Embed Size (px)
DESCRIPTION
Angelman Today online magazine is the first and only publication dedicated to parents, caretakers and professionals of individuals with special needs, specifically Angelman Syndrome. www.angelmantoday.com In this edition: The latest AS research by Ed Weeber Ph.D. Dr. Anna Larson: A life changing encounter Summer time tips for water safety
Citation preview
Angelman Today
INCLUDING RESOURCES RESEARCH INSPIRATION
digital magazine
Angelman Research By Ed Weeber PhD Win a QR Code ID
We are giving away a QR Code ID
to 10 Lucky Winners
This marks the anniversary of the first edition of Angelman Today and the first
magazine dedicated to individuals with Angelman Syndrome their families care
takers and anyone wanting to know more about this genetic condition
This year has gone by very quickly but so much progress has been made We have
partnered with many of the Angelman Foundations across the globe to unite in a
single resource that makes it easy for families and those interested in Angelman
Syndrome to learn about what life is really like be inspired by what our loved ones
can do find products and services to help them in their daily lives support those on
therapeutic diets and read about the latest AS research
Today families are busy with work therapies IEP meetings and doing what they can
to fundraise for the amazing AS organizations Angelman Today gives each and every
foundation the opportunity to share with parents the great things that money is being
used for We (at Angelman Today) are parents too so we understand there is not
enough time to go to all of the websites and search for information and that is why we
bring it to you in this magazine
I want to say ldquoThank yourdquo to everyone for your support and the well wishes as we
celebrate our first year We look forward to many more
Warm Wishes
Lizzie Sordia
Editor - in - Chief
WWWANGELMANTODAYCOM JULY AUGUST 2014
EDITORrsquoS LETTER
Giveaway QR Code IDhelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip5 Angels in Action - Kamaray age 7helliphellip9 Joseph E Wagstaff Postdoctoral Fellowshiphelliphelliphelliphelliphelliphelliphellip10 Summer Time Tips for Water Safety By Shannon Purcellhelliphelliphelliphelliphelliphelliphellip11 The (Not So Invisible) Dangers In Your Homehelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip12 The History of Angelman Syndrome (Spanish)helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip14 Evarsquos Journey with Seizureshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip22 Mompreneur Marketplacehelliphelliphelliphelliphellip hellip23 History of AShelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip24 Dr Anna Larsonhelliphelliphelliphelliphelliphelliphelliphellip26-28 Parent Recommended Bookshelliphelliphelliphellip23 Angelman Research By Ed Weeber PhDhelliphelliphelliphelliphelliphellip31-32 Healthy Fatshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip33 Hello Summer By Sybille Kraft Bellamyhelliphelliphelliphellip24 Classifiedshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip27
Whatrsquos inside
Angelman and Associated
Foundations Canadian Angelman Syndrome Societyhelliphelliphelliphelliphelliphellip4 Angelman Syndrome Francehellip6 AS Meeting ndash Paris 2014 The Angelman Syndrome Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip16 Asociacion Sindrome de Angelmanhelliphelliphelliphelliphelliphelliphelliphelliphelliphellip19 The Angelman Network ndash New Zealandhelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip21 THERAsurfhelliphelliphelliphelliphelliphelliphelliphelliphellip35
30
14
28
Cover Alyssa is 18 years old del+ She recently graduated high school in May She lives with her Mom Dad and 13-year-old sister in Medford Wisconsin She loves to swim ride 4-wheeler go to amusement parks watch movies run around in the backyard swing go to the movies and go out to eat Alyssa is a pretty happy girl She will continue on in high school until she is 21
11
17
26
Photo by
Photos by
Julee
715-965-7448
For information on how to register for the conference and see our 20-page Conference Booklet go
to wwwangelmancanadaorg We look forward to welcoming you to ldquoUnlocking the Possibilitiesrdquo
this July 23rd to 25th
Take Advantage of our Great Room Block Rates ndash while they last Rooms at the Delta Ottawa
City Centre (booked prior to June 23rd) cost $13900 plus taxes per night
Delta Ottawa City Centre
Reservations Direct (613) 237-3600 x 6200
Toll Free 1-855-330-5360
Fax (613) 688-6821
Email dotreservationssmdeltahotelscom
Group Block Code 0714CASS
Group Name Canadian Angelman Syndrome Society
Our Speakers
CASS CONFERENCE IN OTTAWA
23 to 25 JULY 2014
Mary-Louise Bertram ndash Technology for
Communication Workshop Updated Research
Communication Options and Implementing at Home
Alex Dunn ndash Is Your Child Integrated But Not Fully
Included
Dr Jane Summers ndash Update on the Angelman Syndrome
Behaviour Modules Update on Applied Behaviour
Analysis and Angelman Syndrome
Diane News ndash Housing From the Ground Up
Betty Daley ndash Creative Solutions to Housing for People
with Disabilities
Erin Sheldon ndash Lab We Got an Ipad Now What do we
do With it Workshop ndash Parent Advocacy Conversation
Skills and Emerging Literacy
J Michel Longtin ndash Financial and Estate Planning for
Families Impacted by AS
Kimberley Gavan ndash A Meaningful Day and the Power of
Roles as well as ndash
Interactive Sessions -- ldquoAsk the Doctorsrdquo ldquoParent to
Parentrdquo and ldquoAsk the Professionalsrdquo`
Dr Ben Philpot ndash Gene Awakenings for the Treatment of
Angelman Syndrome
Dr Stormy Chamberlain ndash Induced Pluripotent Stem
Cell (iPSWC) Models of Angelman Syndrome
Heidi Blackburn ndash First Timersrsquo Session
Dr Julien Marcadier ndash Genetics 101
Dr Wen-Hann Tan ndash Clinical Research in Angelman
Syndrome
Dr Ron Thibert ndash Seizures and Sleep in AS Seizure
Treatment and Sleep Disorder Treatment Options Adult
Issues in AS and (with Dr Portia McCoy)
Gastrointestinal Issues in AS
Dr Ben Philpot ndash Insights From Mouse Models into the
Pathophysiology of Angelman Syndrome
Dr Charles A Williams ndash Mosaicism in Angelman
Syndrome Infancy to Adulthood Understanding
Angelman Syndrome After Five Decades of Awareness
Eileen Braun ndash Update on AS Clinics
WWWANGELMANTODAYCOM JULY AUGUST 2014
GIVEAWAY
10 Will Win A Patch
From QR Code ID
Enter online at
angelmantodaycom
WWWANGELMANTODAYCOM JULY AUGUST 2014
In 2012 the following four European
associations Nina Foundation
(Netherlands) Orsa (Italy) AVO (Austria)
and AFSA (France) joined to organize an
international meeting bringing together
researchers involved into Angelman
Syndrome (AS) The first meeting in 2012
in Rotterdam (Netherlands) was a huge
success The 2013 edition took place in
Rome (Italy) Paris (France) will host this
year organized by AFSA on 17 October
2014 It will be followed by the French
associationrsquos national conference
The international meeting is open to
researchers and clinicians involved in
neuroscience gene therapy
neurodevelopmental disorders particularly
in Angelman Syndrome It is also open to
officials of European and international
organizations created around Angelman
Syndrome
The aim of the international meeting is to
encourage researchers to share their
experience and knowledge about AS For
this reason speakers present their
scientific projects to one another
As the Rotterdam and Rome conferences
have shown direct exchanges definitely
increase scientific research on Angelman
Syndrome which is supported only by
associations foundations or fundraising
Every two years AFSA organizes its
traditional two-day national meeting This
is a special opportunity for all French
families affected by Angelman Syndrome
to meet and share their experiences and
improve their knowledge Newly
diagnosed families seeking answers and
comfort are particularly welcome
Medical and paramedical professionals
(physicians geneticists psychomotors
physiotherapists researchers etc) take
part in the national meeting and share
with parents all the progress and
improvements that they are aware of
This year AFSA is proud to combine
these two major events the international
meeting will be followed by the French
national meeting (18 and 19 October
2014)
More information can be found on
wwwangelman-afsaorg
AFSArsquos fundraising page for the
international meeting
httpwwwalvarumcomcolloque-
angelman2014
3rd Angelman Syndrome International Meeting 17 October 2014 ndash Paris
WWWANGELMANTODAYCOM JULY AUGUST 2014
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
This marks the anniversary of the first edition of Angelman Today and the first
magazine dedicated to individuals with Angelman Syndrome their families care
takers and anyone wanting to know more about this genetic condition
This year has gone by very quickly but so much progress has been made We have
partnered with many of the Angelman Foundations across the globe to unite in a
single resource that makes it easy for families and those interested in Angelman
Syndrome to learn about what life is really like be inspired by what our loved ones
can do find products and services to help them in their daily lives support those on
therapeutic diets and read about the latest AS research
Today families are busy with work therapies IEP meetings and doing what they can
to fundraise for the amazing AS organizations Angelman Today gives each and every
foundation the opportunity to share with parents the great things that money is being
used for We (at Angelman Today) are parents too so we understand there is not
enough time to go to all of the websites and search for information and that is why we
bring it to you in this magazine
I want to say ldquoThank yourdquo to everyone for your support and the well wishes as we
celebrate our first year We look forward to many more
Warm Wishes
Lizzie Sordia
Editor - in - Chief
WWWANGELMANTODAYCOM JULY AUGUST 2014
EDITORrsquoS LETTER
Giveaway QR Code IDhelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip5 Angels in Action - Kamaray age 7helliphellip9 Joseph E Wagstaff Postdoctoral Fellowshiphelliphelliphelliphelliphelliphelliphellip10 Summer Time Tips for Water Safety By Shannon Purcellhelliphelliphelliphelliphelliphelliphellip11 The (Not So Invisible) Dangers In Your Homehelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip12 The History of Angelman Syndrome (Spanish)helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip14 Evarsquos Journey with Seizureshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip22 Mompreneur Marketplacehelliphelliphelliphelliphellip hellip23 History of AShelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip24 Dr Anna Larsonhelliphelliphelliphelliphelliphelliphelliphellip26-28 Parent Recommended Bookshelliphelliphelliphellip23 Angelman Research By Ed Weeber PhDhelliphelliphelliphelliphelliphellip31-32 Healthy Fatshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip33 Hello Summer By Sybille Kraft Bellamyhelliphelliphelliphellip24 Classifiedshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip27
Whatrsquos inside
Angelman and Associated
Foundations Canadian Angelman Syndrome Societyhelliphelliphelliphelliphelliphellip4 Angelman Syndrome Francehellip6 AS Meeting ndash Paris 2014 The Angelman Syndrome Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip16 Asociacion Sindrome de Angelmanhelliphelliphelliphelliphelliphelliphelliphelliphelliphellip19 The Angelman Network ndash New Zealandhelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip21 THERAsurfhelliphelliphelliphelliphelliphelliphelliphelliphellip35
30
14
28
Cover Alyssa is 18 years old del+ She recently graduated high school in May She lives with her Mom Dad and 13-year-old sister in Medford Wisconsin She loves to swim ride 4-wheeler go to amusement parks watch movies run around in the backyard swing go to the movies and go out to eat Alyssa is a pretty happy girl She will continue on in high school until she is 21
11
17
26
Photo by
Photos by
Julee
715-965-7448
For information on how to register for the conference and see our 20-page Conference Booklet go
to wwwangelmancanadaorg We look forward to welcoming you to ldquoUnlocking the Possibilitiesrdquo
this July 23rd to 25th
Take Advantage of our Great Room Block Rates ndash while they last Rooms at the Delta Ottawa
City Centre (booked prior to June 23rd) cost $13900 plus taxes per night
Delta Ottawa City Centre
Reservations Direct (613) 237-3600 x 6200
Toll Free 1-855-330-5360
Fax (613) 688-6821
Email dotreservationssmdeltahotelscom
Group Block Code 0714CASS
Group Name Canadian Angelman Syndrome Society
Our Speakers
CASS CONFERENCE IN OTTAWA
23 to 25 JULY 2014
Mary-Louise Bertram ndash Technology for
Communication Workshop Updated Research
Communication Options and Implementing at Home
Alex Dunn ndash Is Your Child Integrated But Not Fully
Included
Dr Jane Summers ndash Update on the Angelman Syndrome
Behaviour Modules Update on Applied Behaviour
Analysis and Angelman Syndrome
Diane News ndash Housing From the Ground Up
Betty Daley ndash Creative Solutions to Housing for People
with Disabilities
Erin Sheldon ndash Lab We Got an Ipad Now What do we
do With it Workshop ndash Parent Advocacy Conversation
Skills and Emerging Literacy
J Michel Longtin ndash Financial and Estate Planning for
Families Impacted by AS
Kimberley Gavan ndash A Meaningful Day and the Power of
Roles as well as ndash
Interactive Sessions -- ldquoAsk the Doctorsrdquo ldquoParent to
Parentrdquo and ldquoAsk the Professionalsrdquo`
Dr Ben Philpot ndash Gene Awakenings for the Treatment of
Angelman Syndrome
Dr Stormy Chamberlain ndash Induced Pluripotent Stem
Cell (iPSWC) Models of Angelman Syndrome
Heidi Blackburn ndash First Timersrsquo Session
Dr Julien Marcadier ndash Genetics 101
Dr Wen-Hann Tan ndash Clinical Research in Angelman
Syndrome
Dr Ron Thibert ndash Seizures and Sleep in AS Seizure
Treatment and Sleep Disorder Treatment Options Adult
Issues in AS and (with Dr Portia McCoy)
Gastrointestinal Issues in AS
Dr Ben Philpot ndash Insights From Mouse Models into the
Pathophysiology of Angelman Syndrome
Dr Charles A Williams ndash Mosaicism in Angelman
Syndrome Infancy to Adulthood Understanding
Angelman Syndrome After Five Decades of Awareness
Eileen Braun ndash Update on AS Clinics
WWWANGELMANTODAYCOM JULY AUGUST 2014
GIVEAWAY
10 Will Win A Patch
From QR Code ID
Enter online at
angelmantodaycom
WWWANGELMANTODAYCOM JULY AUGUST 2014
In 2012 the following four European
associations Nina Foundation
(Netherlands) Orsa (Italy) AVO (Austria)
and AFSA (France) joined to organize an
international meeting bringing together
researchers involved into Angelman
Syndrome (AS) The first meeting in 2012
in Rotterdam (Netherlands) was a huge
success The 2013 edition took place in
Rome (Italy) Paris (France) will host this
year organized by AFSA on 17 October
2014 It will be followed by the French
associationrsquos national conference
The international meeting is open to
researchers and clinicians involved in
neuroscience gene therapy
neurodevelopmental disorders particularly
in Angelman Syndrome It is also open to
officials of European and international
organizations created around Angelman
Syndrome
The aim of the international meeting is to
encourage researchers to share their
experience and knowledge about AS For
this reason speakers present their
scientific projects to one another
As the Rotterdam and Rome conferences
have shown direct exchanges definitely
increase scientific research on Angelman
Syndrome which is supported only by
associations foundations or fundraising
Every two years AFSA organizes its
traditional two-day national meeting This
is a special opportunity for all French
families affected by Angelman Syndrome
to meet and share their experiences and
improve their knowledge Newly
diagnosed families seeking answers and
comfort are particularly welcome
Medical and paramedical professionals
(physicians geneticists psychomotors
physiotherapists researchers etc) take
part in the national meeting and share
with parents all the progress and
improvements that they are aware of
This year AFSA is proud to combine
these two major events the international
meeting will be followed by the French
national meeting (18 and 19 October
2014)
More information can be found on
wwwangelman-afsaorg
AFSArsquos fundraising page for the
international meeting
httpwwwalvarumcomcolloque-
angelman2014
3rd Angelman Syndrome International Meeting 17 October 2014 ndash Paris
WWWANGELMANTODAYCOM JULY AUGUST 2014
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Giveaway QR Code IDhelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip5 Angels in Action - Kamaray age 7helliphellip9 Joseph E Wagstaff Postdoctoral Fellowshiphelliphelliphelliphelliphelliphelliphellip10 Summer Time Tips for Water Safety By Shannon Purcellhelliphelliphelliphelliphelliphelliphellip11 The (Not So Invisible) Dangers In Your Homehelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip12 The History of Angelman Syndrome (Spanish)helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip14 Evarsquos Journey with Seizureshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip22 Mompreneur Marketplacehelliphelliphelliphelliphellip hellip23 History of AShelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip24 Dr Anna Larsonhelliphelliphelliphelliphelliphelliphelliphellip26-28 Parent Recommended Bookshelliphelliphelliphellip23 Angelman Research By Ed Weeber PhDhelliphelliphelliphelliphelliphellip31-32 Healthy Fatshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip33 Hello Summer By Sybille Kraft Bellamyhelliphelliphelliphellip24 Classifiedshelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip27
Whatrsquos inside
Angelman and Associated
Foundations Canadian Angelman Syndrome Societyhelliphelliphelliphelliphelliphellip4 Angelman Syndrome Francehellip6 AS Meeting ndash Paris 2014 The Angelman Syndrome Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip16 Asociacion Sindrome de Angelmanhelliphelliphelliphelliphelliphelliphelliphelliphelliphellip19 The Angelman Network ndash New Zealandhelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip21 THERAsurfhelliphelliphelliphelliphelliphelliphelliphelliphellip35
30
14
28
Cover Alyssa is 18 years old del+ She recently graduated high school in May She lives with her Mom Dad and 13-year-old sister in Medford Wisconsin She loves to swim ride 4-wheeler go to amusement parks watch movies run around in the backyard swing go to the movies and go out to eat Alyssa is a pretty happy girl She will continue on in high school until she is 21
11
17
26
Photo by
Photos by
Julee
715-965-7448
For information on how to register for the conference and see our 20-page Conference Booklet go
to wwwangelmancanadaorg We look forward to welcoming you to ldquoUnlocking the Possibilitiesrdquo
this July 23rd to 25th
Take Advantage of our Great Room Block Rates ndash while they last Rooms at the Delta Ottawa
City Centre (booked prior to June 23rd) cost $13900 plus taxes per night
Delta Ottawa City Centre
Reservations Direct (613) 237-3600 x 6200
Toll Free 1-855-330-5360
Fax (613) 688-6821
Email dotreservationssmdeltahotelscom
Group Block Code 0714CASS
Group Name Canadian Angelman Syndrome Society
Our Speakers
CASS CONFERENCE IN OTTAWA
23 to 25 JULY 2014
Mary-Louise Bertram ndash Technology for
Communication Workshop Updated Research
Communication Options and Implementing at Home
Alex Dunn ndash Is Your Child Integrated But Not Fully
Included
Dr Jane Summers ndash Update on the Angelman Syndrome
Behaviour Modules Update on Applied Behaviour
Analysis and Angelman Syndrome
Diane News ndash Housing From the Ground Up
Betty Daley ndash Creative Solutions to Housing for People
with Disabilities
Erin Sheldon ndash Lab We Got an Ipad Now What do we
do With it Workshop ndash Parent Advocacy Conversation
Skills and Emerging Literacy
J Michel Longtin ndash Financial and Estate Planning for
Families Impacted by AS
Kimberley Gavan ndash A Meaningful Day and the Power of
Roles as well as ndash
Interactive Sessions -- ldquoAsk the Doctorsrdquo ldquoParent to
Parentrdquo and ldquoAsk the Professionalsrdquo`
Dr Ben Philpot ndash Gene Awakenings for the Treatment of
Angelman Syndrome
Dr Stormy Chamberlain ndash Induced Pluripotent Stem
Cell (iPSWC) Models of Angelman Syndrome
Heidi Blackburn ndash First Timersrsquo Session
Dr Julien Marcadier ndash Genetics 101
Dr Wen-Hann Tan ndash Clinical Research in Angelman
Syndrome
Dr Ron Thibert ndash Seizures and Sleep in AS Seizure
Treatment and Sleep Disorder Treatment Options Adult
Issues in AS and (with Dr Portia McCoy)
Gastrointestinal Issues in AS
Dr Ben Philpot ndash Insights From Mouse Models into the
Pathophysiology of Angelman Syndrome
Dr Charles A Williams ndash Mosaicism in Angelman
Syndrome Infancy to Adulthood Understanding
Angelman Syndrome After Five Decades of Awareness
Eileen Braun ndash Update on AS Clinics
WWWANGELMANTODAYCOM JULY AUGUST 2014
GIVEAWAY
10 Will Win A Patch
From QR Code ID
Enter online at
angelmantodaycom
WWWANGELMANTODAYCOM JULY AUGUST 2014
In 2012 the following four European
associations Nina Foundation
(Netherlands) Orsa (Italy) AVO (Austria)
and AFSA (France) joined to organize an
international meeting bringing together
researchers involved into Angelman
Syndrome (AS) The first meeting in 2012
in Rotterdam (Netherlands) was a huge
success The 2013 edition took place in
Rome (Italy) Paris (France) will host this
year organized by AFSA on 17 October
2014 It will be followed by the French
associationrsquos national conference
The international meeting is open to
researchers and clinicians involved in
neuroscience gene therapy
neurodevelopmental disorders particularly
in Angelman Syndrome It is also open to
officials of European and international
organizations created around Angelman
Syndrome
The aim of the international meeting is to
encourage researchers to share their
experience and knowledge about AS For
this reason speakers present their
scientific projects to one another
As the Rotterdam and Rome conferences
have shown direct exchanges definitely
increase scientific research on Angelman
Syndrome which is supported only by
associations foundations or fundraising
Every two years AFSA organizes its
traditional two-day national meeting This
is a special opportunity for all French
families affected by Angelman Syndrome
to meet and share their experiences and
improve their knowledge Newly
diagnosed families seeking answers and
comfort are particularly welcome
Medical and paramedical professionals
(physicians geneticists psychomotors
physiotherapists researchers etc) take
part in the national meeting and share
with parents all the progress and
improvements that they are aware of
This year AFSA is proud to combine
these two major events the international
meeting will be followed by the French
national meeting (18 and 19 October
2014)
More information can be found on
wwwangelman-afsaorg
AFSArsquos fundraising page for the
international meeting
httpwwwalvarumcomcolloque-
angelman2014
3rd Angelman Syndrome International Meeting 17 October 2014 ndash Paris
WWWANGELMANTODAYCOM JULY AUGUST 2014
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
For information on how to register for the conference and see our 20-page Conference Booklet go
to wwwangelmancanadaorg We look forward to welcoming you to ldquoUnlocking the Possibilitiesrdquo
this July 23rd to 25th
Take Advantage of our Great Room Block Rates ndash while they last Rooms at the Delta Ottawa
City Centre (booked prior to June 23rd) cost $13900 plus taxes per night
Delta Ottawa City Centre
Reservations Direct (613) 237-3600 x 6200
Toll Free 1-855-330-5360
Fax (613) 688-6821
Email dotreservationssmdeltahotelscom
Group Block Code 0714CASS
Group Name Canadian Angelman Syndrome Society
Our Speakers
CASS CONFERENCE IN OTTAWA
23 to 25 JULY 2014
Mary-Louise Bertram ndash Technology for
Communication Workshop Updated Research
Communication Options and Implementing at Home
Alex Dunn ndash Is Your Child Integrated But Not Fully
Included
Dr Jane Summers ndash Update on the Angelman Syndrome
Behaviour Modules Update on Applied Behaviour
Analysis and Angelman Syndrome
Diane News ndash Housing From the Ground Up
Betty Daley ndash Creative Solutions to Housing for People
with Disabilities
Erin Sheldon ndash Lab We Got an Ipad Now What do we
do With it Workshop ndash Parent Advocacy Conversation
Skills and Emerging Literacy
J Michel Longtin ndash Financial and Estate Planning for
Families Impacted by AS
Kimberley Gavan ndash A Meaningful Day and the Power of
Roles as well as ndash
Interactive Sessions -- ldquoAsk the Doctorsrdquo ldquoParent to
Parentrdquo and ldquoAsk the Professionalsrdquo`
Dr Ben Philpot ndash Gene Awakenings for the Treatment of
Angelman Syndrome
Dr Stormy Chamberlain ndash Induced Pluripotent Stem
Cell (iPSWC) Models of Angelman Syndrome
Heidi Blackburn ndash First Timersrsquo Session
Dr Julien Marcadier ndash Genetics 101
Dr Wen-Hann Tan ndash Clinical Research in Angelman
Syndrome
Dr Ron Thibert ndash Seizures and Sleep in AS Seizure
Treatment and Sleep Disorder Treatment Options Adult
Issues in AS and (with Dr Portia McCoy)
Gastrointestinal Issues in AS
Dr Ben Philpot ndash Insights From Mouse Models into the
Pathophysiology of Angelman Syndrome
Dr Charles A Williams ndash Mosaicism in Angelman
Syndrome Infancy to Adulthood Understanding
Angelman Syndrome After Five Decades of Awareness
Eileen Braun ndash Update on AS Clinics
WWWANGELMANTODAYCOM JULY AUGUST 2014
GIVEAWAY
10 Will Win A Patch
From QR Code ID
Enter online at
angelmantodaycom
WWWANGELMANTODAYCOM JULY AUGUST 2014
In 2012 the following four European
associations Nina Foundation
(Netherlands) Orsa (Italy) AVO (Austria)
and AFSA (France) joined to organize an
international meeting bringing together
researchers involved into Angelman
Syndrome (AS) The first meeting in 2012
in Rotterdam (Netherlands) was a huge
success The 2013 edition took place in
Rome (Italy) Paris (France) will host this
year organized by AFSA on 17 October
2014 It will be followed by the French
associationrsquos national conference
The international meeting is open to
researchers and clinicians involved in
neuroscience gene therapy
neurodevelopmental disorders particularly
in Angelman Syndrome It is also open to
officials of European and international
organizations created around Angelman
Syndrome
The aim of the international meeting is to
encourage researchers to share their
experience and knowledge about AS For
this reason speakers present their
scientific projects to one another
As the Rotterdam and Rome conferences
have shown direct exchanges definitely
increase scientific research on Angelman
Syndrome which is supported only by
associations foundations or fundraising
Every two years AFSA organizes its
traditional two-day national meeting This
is a special opportunity for all French
families affected by Angelman Syndrome
to meet and share their experiences and
improve their knowledge Newly
diagnosed families seeking answers and
comfort are particularly welcome
Medical and paramedical professionals
(physicians geneticists psychomotors
physiotherapists researchers etc) take
part in the national meeting and share
with parents all the progress and
improvements that they are aware of
This year AFSA is proud to combine
these two major events the international
meeting will be followed by the French
national meeting (18 and 19 October
2014)
More information can be found on
wwwangelman-afsaorg
AFSArsquos fundraising page for the
international meeting
httpwwwalvarumcomcolloque-
angelman2014
3rd Angelman Syndrome International Meeting 17 October 2014 ndash Paris
WWWANGELMANTODAYCOM JULY AUGUST 2014
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
GIVEAWAY
10 Will Win A Patch
From QR Code ID
Enter online at
angelmantodaycom
WWWANGELMANTODAYCOM JULY AUGUST 2014
In 2012 the following four European
associations Nina Foundation
(Netherlands) Orsa (Italy) AVO (Austria)
and AFSA (France) joined to organize an
international meeting bringing together
researchers involved into Angelman
Syndrome (AS) The first meeting in 2012
in Rotterdam (Netherlands) was a huge
success The 2013 edition took place in
Rome (Italy) Paris (France) will host this
year organized by AFSA on 17 October
2014 It will be followed by the French
associationrsquos national conference
The international meeting is open to
researchers and clinicians involved in
neuroscience gene therapy
neurodevelopmental disorders particularly
in Angelman Syndrome It is also open to
officials of European and international
organizations created around Angelman
Syndrome
The aim of the international meeting is to
encourage researchers to share their
experience and knowledge about AS For
this reason speakers present their
scientific projects to one another
As the Rotterdam and Rome conferences
have shown direct exchanges definitely
increase scientific research on Angelman
Syndrome which is supported only by
associations foundations or fundraising
Every two years AFSA organizes its
traditional two-day national meeting This
is a special opportunity for all French
families affected by Angelman Syndrome
to meet and share their experiences and
improve their knowledge Newly
diagnosed families seeking answers and
comfort are particularly welcome
Medical and paramedical professionals
(physicians geneticists psychomotors
physiotherapists researchers etc) take
part in the national meeting and share
with parents all the progress and
improvements that they are aware of
This year AFSA is proud to combine
these two major events the international
meeting will be followed by the French
national meeting (18 and 19 October
2014)
More information can be found on
wwwangelman-afsaorg
AFSArsquos fundraising page for the
international meeting
httpwwwalvarumcomcolloque-
angelman2014
3rd Angelman Syndrome International Meeting 17 October 2014 ndash Paris
WWWANGELMANTODAYCOM JULY AUGUST 2014
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
In 2012 the following four European
associations Nina Foundation
(Netherlands) Orsa (Italy) AVO (Austria)
and AFSA (France) joined to organize an
international meeting bringing together
researchers involved into Angelman
Syndrome (AS) The first meeting in 2012
in Rotterdam (Netherlands) was a huge
success The 2013 edition took place in
Rome (Italy) Paris (France) will host this
year organized by AFSA on 17 October
2014 It will be followed by the French
associationrsquos national conference
The international meeting is open to
researchers and clinicians involved in
neuroscience gene therapy
neurodevelopmental disorders particularly
in Angelman Syndrome It is also open to
officials of European and international
organizations created around Angelman
Syndrome
The aim of the international meeting is to
encourage researchers to share their
experience and knowledge about AS For
this reason speakers present their
scientific projects to one another
As the Rotterdam and Rome conferences
have shown direct exchanges definitely
increase scientific research on Angelman
Syndrome which is supported only by
associations foundations or fundraising
Every two years AFSA organizes its
traditional two-day national meeting This
is a special opportunity for all French
families affected by Angelman Syndrome
to meet and share their experiences and
improve their knowledge Newly
diagnosed families seeking answers and
comfort are particularly welcome
Medical and paramedical professionals
(physicians geneticists psychomotors
physiotherapists researchers etc) take
part in the national meeting and share
with parents all the progress and
improvements that they are aware of
This year AFSA is proud to combine
these two major events the international
meeting will be followed by the French
national meeting (18 and 19 October
2014)
More information can be found on
wwwangelman-afsaorg
AFSArsquos fundraising page for the
international meeting
httpwwwalvarumcomcolloque-
angelman2014
3rd Angelman Syndrome International Meeting 17 October 2014 ndash Paris
WWWANGELMANTODAYCOM JULY AUGUST 2014
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Angels in Action Celebrating the Abilities
of our Angels By Andria Sivill Mom to Kamaray
This is Kamaray (Kami)
Sivill age 7 from South
Sioux city NE riding her
new adaptive TRIAID
bike she won through the
Great Bike Giveaway
Kami is enjoying her
summer amp new found
freedom riding in the
outdoors
Thank you
Bart Andria amp Kamaray
Sivill
In the previous
March-April edition
of Angelman Today
we helped to promote
The Great Bike
Giveaway through
Friendshipcircleorg
and we are proud to
announce a winner
from our very own
Angelman
community
WWWANGELMANTODAYCOM JULY AUGUST 2014
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
The Joseph E Wagstaff Postdoctoral Fellowship leads the way to a brighter future for Angelman syndrome
Joseph E Wagstaff was a pediatrician medical geneticist and leading researcher for Angelman
syndrome His contribution to the Angelman syndrome community was immeasurable from
the scientific discoveries he made in the lab to the hearts he touched in the community In his
honor the Angelman Syndrome Foundation has established the Joseph E Wagstaff Postdoctoral
Fellowship a two-year grant awarding $55000 per year to young researchers interested
in pursuing a career in Angelman syndrome research and discovering a cure for
Angelman syndrome
Since the beginning the ASF has been dedicated to bringing the brightest research minds
together to improve the quality of life for individuals with AS and their families Thanks to your
support The Wagstaff Fellowship is one more way that wersquore leading the way to finding a cure
wwwAngelmanorg (800) 432-6435 infoangelmanorg
Two years Brilliant minds Endless potential
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
1 Touch supervisionbe within arms length of your
child at all times
2 Arm floaties noodles inner tubes should not be
considered safety devices under any circumstance
A coast guard approved life jacket is always
recommended
3 CPR is a must and saves lives Anyone with a
seizure disorder should always be monitored with
one on one supervision
4 Make sure your pool is up to code and install a
minimum of a 4 foot fence surrounds the pool on all
4 sides and separates the pool from the house
5 Be aware that drowning can happen even in very
shallow water Wading pools should always be
emptied after each use
We know
Angels are
fascinated
with
water
letrsquos have a
fun and
safe
summer
WWWANGELMANTODAYCOM JULY AUGUST 2014
Summer Time Tips for Water Safety By Shannon Purcell AngelMom to Kyle and Swim Instructor
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
You canrsquot see them but they are there You
can touch them smell them and often
times taste them not that you want to
What are they These are everyday
household and personal products that we
use to clean disinfect and deodorize But
what are they really Depending on which
ones you use they are harmful products
that can cause allergies cancer arthritis
sinus infections and the list goes on But
what ARE THEY REALLY They are the
products that contain bleach such as
Clorox for the floorscounters chlorine
such as Cascade Dishwashing Detergent
Triclosan found in antibacterial hand
sanitizers formaldehyde which is found in
many of our personal products such as
sunscreen cosmetics body washes lotion
all of which are harmful to our health our
familiesrsquo health and the environment
What if there was an alternative What if
there was a safer less expensive way to
shop for these products What if you didnrsquot
have to worry if your child(s) ingested a
cleaning product or better yet what if your
home smelled clean and fresh but without
the strong chemical odors How about
having products that are made in the USA
There is a way and the answer is YES to all
of these questions
Say ldquoYesrdquo to products containing
melaleuca oil which is a natural healing
agent and other natural cleaning products
such as biodegradable cleaning agents
water softening agents plant derived
products and naturally derived enzymes
These are just some of the ingredients that make
up Tough and Tender Diamond Brite Clear
Defense Sun Shade Sunscreen Sei Bella make-
up Body Satin and Renew Skin Lotion and
much more
For more information contact Jocelyn Silverman
via email LHJBS18gmailcom
Each year over 1 million children are
accidentally poisoned in their homes 250000 of
these victims are hospitalized 3000 children
will end up in intensive care Dozens more will
die The amazing fact is the most common
substance to poison children is a household
cleaner Many of these products are considered
safe Think of your own home - you probably
have dozens of bottles of cleaners containing
hundreds of chemicals Could an accident
happen in your home
The (Not So Invisible) Dangers in Your Home By Jocelyn Silverman
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Thank you
A Big Thanks to all of the contributors that help bring
you Angelman Today
Angelman Today Supporters Sleep Safe Bed wwwsleepsafebedcom
Linda Roberts wwwyouravoncomlindaroberts
Shari Caspert wwwyoungliving4specialneedscom
Jocelyn Silverman LHJBS18gmailcom
QR Code ID wwwQRcodeidorg
All of the Angelman and
Associated
Foundations
across the globe
Contributors
Ed Weeber PhD
Dr Anna Larson
Sybille Kraft Bellamy
Claire Lerman
Kathy Parker
Jocelyn Silverman
Pritzker Family
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Dr Harry Angelman
1915 ndash 1996
El Dr Harry Angelman fue un meacutedico Ingleacutes quien
identificoacute lo que hoy en diacutea se llama Siacutendrome de
Angelman
Nacioacute en Birkenhead Inglaterra Le fascinaba el idioma
y la cultura de Italia
El fue el primero quien observoacute treacutes nintildeos no
relacionados quienes demostraban siacutentomas similares ndash
atrasos severos intelectuales un modo de andar que era
espasmoacutedico y riacutegido ausencia del hablar
convulsiones y una disposicioacuten contento
Luego duranted unas vacaciones en Italia descubrioacute
una pintura llamada ldquoUn Nintildeo con una Marionetardquo
creado por el artista del Renascimiento Giovanni
Francesco Caroto en el museo Castelvecchio en
Verona La pintura le hizo pensar en los nintildeos que eran
sus pacientes y le condujo a publicar un artiacuteculo
profesional en el antildeo 1965 que describiacutea lo que el
llamaba ldquoNintildeos Marionetasrdquo En aquel momento la
importancia de su artiacuteculo no fue reconocido como algo
importante
No pasoacute nada mas hasta Charles A Williams y Jaime L
Frias del departamento de Pediacuteatra Divisiacuteon de
Geneacutetica de la Universidad de Florida Colegio de
Medicina de Gainesville Florida sometieron un
artiacuteculo a la Revista Americana de Geneacutetica Meacutedica
explicando estudios de seacuteis pacientes comparando sus
datos con los de informes previos ndash incluyendo atrasos
intelectuales severos el andar como un ldquomarionetardquo
anormalidades cranio-faciales y espisodios frecuentes
de risas De repente se notoacute que eso era mucho maacutes
comuacuten de lo que anteriormente se creiacutea Ellos
propusieron ponerle el nombre de Siacutendrome de
Angelman en honor del Dr Harry Angelman
La Historia del Siacutendrome de Angelman
WWWANGELMANTODAYCOM JULY AUGUST 2014
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
STAY CONNECTED ON THE GO
Insert Current Cover
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
ITrsquoS TIME TO WALK
We are on our way to reaching our $12 million fundraising goal in support of the AS communityThe Angelman Syndrome Foundation and the entire Angelman syndrome community are incredibly grateful for everyone who attended donated to and volunteered in support of the 2014 ASF National Walk Nearly 10000 individuals across the country participated in the 30 Walk sites this year raising hundreds of thousands in support of AS research and direct family support
A special THANK YOU to the 2014 Walk Coordinators
The 2014 Walk was possible because of the tireless selfless efforts of our Walk Coordinators Be sure to say thank-you to these folks
bull KerryBurdenAlabamabull PeterSanGiovanniBostonbull MichelleFontenotBreauxBridgebull KimPrenattBuffaloNYbull JohnGeraghtyChicagobull PennyJuskoCincinnatibull JenniferHarrisonBullColumbiaSCbull DonnaManhartDallasbull SusanDanielDanvilleVAbull CindySnyderDenverbull JustinGrillGrandHavenMIbull LeahBoiceHartfordCTbull AdrienneForetHoustonbull KathyRokitaIndianapolisbull GraceSamsonLasVegasbull IrisFaverLongIslandbull MaryFasangLosAngelesbull AprilRocheNashvillebull LizzieSordiaOrlandobull PamPeppersPhiladelphiabull AmyWestPhoenixbull CorrinnaBiscegliaPittsburghbull CrystalHarrisonPuyallupORbull TraceyKuriharaSacramentobull MichelleGilbertSaltLakeCitybull SusanRavelletteSanDiegobull ElisaThelanStLouisbull SaraSchwarzrockTwinCitiesMNbull DevarBurbageWashingtonDCbull JamiNorthcuttWichita
THANK YOU for your support of the ASF National Walk
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
ITrsquoS TIME TO WALK
During the ASF National Walk on Long Island the Rockville Centre St Patrickrsquos Parade committee presented its $30000 donation to the ASF amid much fanfare The ASF was chosen as one of three charities to benefit from funds raised during the St Patrickrsquos Parade in March and other events leading up to the Parade The ASF is incredibly honored and appreciative to the Rockville Centre community and all individuals who supported the Parade for their immense contributions in raising funds to support the AS community
Weareedgingclosertoour$12millionfundraisinggoalandneed your continued supporttoreachthatgoalHerersquoshowyou can help
bull AskyouremployeraboutmatchinggiftsManyemployerswillmatchemployeesrsquodonationstonon-profitorganizationsandallyouneedtodoisask
bull HostafundraiserWiththeWalkbehindususecreativewaystoraiseadditionalfundssuchasbakesalesdoingsummerchoresdinnerpartiesandworkplacepotlucks
bull Send5emailsto5folksaskingfor$25Askthoseclosetoyouiftheyhavenrsquotalreadydonatedtodosointhissmallerincrement
THANK YOU Rockville Centre St Patrickrsquos Parade
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
View Previous ASF Educational Webinars on YouTubeNearly2000haveparticipatedintheASFEducationalWebinarSerieswhichhelpsfamiliesandcaregiversstayup-to-datewithawiderangeofimportanttopicsrelatedtoASincludingresearchupdatesclinicaldevelopmentstipsforeverydaylivingandmanagingsymptomsandmanymoreAttendeeshavetheability to ask questions and interact with the speakers who areexpertsintheirrespectivefieldClickheretoviewpastASFEducationalWebinarsontheASFrsquosYouTubeChannelincludingthemostrecentwebinarbyDrArtBeaudetwhodiscussedhowhis ASF-fundedresearchismakingsignificantprogress
TheASFbringstogetherthebestandbrightestinASresearcheveryyearbyfundingtheASFScientificSymposium takingplaceAugust14-16inCambridgecommencingthedayafterHarryAngelmanrsquosbirthdayonAugust13TheASFembracescollaborationbybringingtogetherresearchersofotherrelateddisorderstodrivefurtheradvancementsinASresearchandtheDup15AllianceisjoiningthisyearrsquosSymposiumtobroadenthescopeofresearchdiscussedResearcherswillbediscussingthecurrentstateofASandDup15researchtocomparefindingsdiscussbestpracticesandworktomoveresearchclosertowardsclinicaltrials
FundsraisedduringtheASFNationalWalkandothereventssupportASF-fundedresearchgrants and the JosephEWagstaffPostdoctoralFellowshipTheWagstaffFellowshipfostersthebrightestandbestyoungresearchersinpursuitofASscientificdiscoveryandthe2014callforapplicationswillbeissuedinthenearfutureTreatmentsresultingfromtheASFrsquos$62millioninvestmentinresearchhelpindividualswithASlivebetterlivestodayandthatsameinvestmenthasalsodiscoveredpathwaystowardsacureleadingtobetterlivestomorrowforindividualswithASbutrequiringongoingfinancialsupport
SummerishereanditistimetostartplanningaheadfornextschoolyearAnIndividualEducationPlan(IEP)isusedinanacademicsettingforplanningandperformanceevaluationwiththeeducationalteamassistingyourlovedonewithASandyourfamilyDevelopmentispersonaltoeachindividualevenmoreso
withindividualswithASandawell-craftedIEPcansignificantlyhelpyourlovedonestayontrackwithhisorherpersonalgoalsTheASFIEPBankisaplatformtoexchangeIEPgoalsandobjectivestoassistyouandyourstudentrsquoseducationalteaminplanningherhisIEPClickheretobeginusingtheASFIEPBank
Educational Webinar SeriesAngelman Syndrome Foundation
ASF Scientific Symposium in August
Individual Education Plan BankhellipTime to Start Planning
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sign-uptoreceivetheASFrsquosweeklyemailupdatetostaytunedwithresearchfamilysupportandotherAScommunityupdates
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Treatment of behavioral disorder related to Angelman Syndrome PhD Ignacio Sanchez Cubillo clinical neuropsychologist of adults children and youth in brain injury (Red Menni Bilbao) and at the Balearic Institute of Psyquiatry and Psychology (Palma de Mallorca)
Phd Sanchez Cubillo neuropsychologist tried to explain the concepts and basis ideas that parents must understand in order to bear in mind the current behaviour that we notice with our children Behaviour always has a reason they pursue an objective (attention power revenge etchellip) and we need to gure out these objectives in order to understand their beha-viour at the same time we will be able to modify misconduct
According to Pdh Sanchez it is essential to analyze in depth the context of behaviour that needs to be corrected For that reason it is necessary to take into account what happened before and during the misconduct and value our reaction to it The behaviour of our children will be modied when we modify our reaction to such conduct This is why it is essential to know if our reaction was correct or not
During his presentation Pdh Sanchez analyzed and explained the guidelines you should follow with real cases
This past 10th and 11th of May Spanish Angelman Syndrome Association conducted a professional conference in Madrid under the title of letrsquos make the journey together for parents and professionals who deal with our children
The conference was a success both because of the level of participation as well as the professionals who were there and shared their knowledgeThe association undertook the commitment of holding this conference during an assembly We do believe that our expectations became self-fullling both in participation as well as chosen issues
In addition you can nd some brief summaries of conference presentations Videos will be available to anyone who is interested on our YouTube channel
ldquoLetrsquos make the journey togetherrdquoConference
10-11th May-Madrid
Genetic aspects of Angelman Syndrome PhD Pablo Lapunzina head of the Institute of Genetics and Molecular Medicine (INGEMM) the Hospital La Paz (Madrid) member of the advisory committee at Dravet Syndrome Foundation PDh
Pablo Lapunzina made a complete introduction to Angelman syndrome reminding its characteristics and genetic mechanisms He explained dicult concepts to grasp such as methylation and genomic imprinting with simples terms Then he went on to outline the genetic mechanisms that cause Angelman syndrome (deletion paternal uniparental disomy mutation in the UBE3A gene and clinical cases) he also talked about the occurrence of each one He spoke openly about diagnostic techniques that are being currently used to conrm Angelman syndrome
To conclude he delved into the key themes sleep disorder He recommend us to create a safe sleep zone and the measure that we should take to treat such disorders
Spain
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Introduction to PECS workshop PhD Sonia Vilatela Verdes speech therapist and managing director at Pyramid Educational Consultants ndash Spain (wwwpecs-spaincom)
Sonia Vitatella Verdes introduced us to picture exchange communication system (PECS) The rst thing that she explained to us is that we are not always using PECs when we are using any king of images it is essential a picture exchange among users with a clear feedback intention PECS starts teaching how to carry out spontaneous requests and then to add additional communicative functions such as answer questions and comment
PECS has 6 phasesbullPHASE I how to communicate The child is trained to initiate communication with one picture at a time (non discrimation)bullPHASE II distance and persistence Aid and support are progressively eliminatedbullPHASE III Discrimation The child learns to select the appropriate picture (simple discrimation) Then heshe learns conditional discriminationbullPHASE IV the child learns to construct simple senteces by using expressions such as ldquoI wanthelliprdquobullPHASE V the child is taught to respond to the prompt ldquowhat do you wantrdquobullPHASE VI the child is taught to make comments about what they see hearetc
Sonia spoke about the importance of making generalizations in every possible context family school etc
ROUND TABLE At the end of our Professional Conference we had a round table exclusively parents of children with Angelman syndrome The aim was to create a space in which everybody can talk about concerns share experiences and worries
Several issued emerged during the topic including sleep disorders We discussed and raised issues about routines whether it is important or not to establish and keep routine associated with bedtime We also talked about the options that each family has selected for their children sleep alone in a room or share the room with hisher parents end up with himher when heshe wakes up etcSphincter control was has also been much discussed how to teach children to use the toilet and remove diaper at nightWe also share some tricks to make daily life easier for instance get kids to wear their glasses collaboration during bathtime dress undresses ecthellip
We could have stayed talking for a few hours the time seemed too brief for too many things that we wanted to share It was a great group therapy group which helped to bring emotions to the surface
The two-day event was recorded also and it is available to anyone interested on our Angelman Syndrome association youtube channel
httpwwwyoutubecomuserSociosAngelmanASA
When epilepsy is only a part of the clinical case advances and challenges in the treatment of drug-resistant epilepsy PhD Ana Mingorance head of Techonology and Innovation at Dravet Syndrome Foundation she works in Brussels as specialist in epilepsy Alzheimer and Parkinson diseases
Dr Ana Mingorance analyzed in depth the various types of epilepsy and the incidence each one has According to her drugs are progressing rapidly to control seizures although it is still unknown what causes the seizures She commented on the fact that some kind of epilepsies cannot be controlled with drugs Numerous parents asked about the characteristics of the seizures experienced by their children such as fainting convulsion and possible solutions to these problems
According to Mingorance it is very important to spend money on epilepsy research and the search of new drugs which can help to control seizures and the eect that they have on children
wwwangelman-asaorg
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
On the 28th June 2013 our beautiful little
16-month-old Eva was diagnosed with
Angelman Syndrome
Just 4 months after her diagnosis Eva
started with epilepsy and has been in amp
out of the hospital numerous times All the
medications we were given completely
failed to control Evas seizures
We had read about something called a
Ketogenic diet amp we were desperate for
Eva to be able to try this as a form of
medication After battling to get consent to
go onto the diet we eventually received
our neurologists consent
Eva started the diet on the 4th March 2014
at which point her seizures had ramped up
to a level where she was having them
every minute of every day Amazingly
within 48hrs of starting the diet they
stopped completely We have not seen any
seizures in the past 3 months Our lives
have been transformed amp we hope and
pray that it continues
Evarsquos Journey With Seizures And What Her Mom Is Doing About It By Claire Lerman
WWWANGELMANTODAYCOM JULY AUGUST 2014
wwwfacebookcompagesEvas-Ketogenic-Angelman-Journey
Claire is so passionate about the success
that Eva has experienced on the Ketogenic
she has created a facebook page to
document Evarsquos Journey It is her goal to
share with families that they too can give it
a try to see if it will work for their child
Check it out at
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
10 of your order
donated to the
Angelman Syndrome
Foundation
AVON ndash IT LOOKS
GOOD ON YOU
DISCOVER THE
AVON DIFFERENCE Linda Roberts
Independent Sales Representative
wwwyouravoncomlindaroberts
Your Ad Here
Call Today
407-509-5439
WWWANGELMANTODAYCOM JULY AUGUST 2014
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician who
identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England He
was an enthusiast for the language and country of
Italy
He first observed three children who were unrelated
but showed similar symptoms of severe intellectual
delay stiff jerky gait lack of speech seizures
motor disorders and happy demeanors
Then while vacationing in Italy he observed an oil
painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at the
Castelvecchio museum in Verona
Reminded of the children Dr Angelman published
a paper in 1965 that described what he called
ldquopuppet childrenrdquo At this time his paper was not
immediately recognized as important
It wasnrsquot until 1982 when Charles A Williams and
Jaime L Frias of the department of Pediatrics
Division of Genetics University of Florida College
of Medicine Gainesville submitted a paper to the
American Journal of Medical Genetics reporting
studies of six patients and comparing their data to
those from previous reports - severe developmental
delay ldquopuppet-likerdquo gait craniofacial
abnormalities and frequent episodes of laughter
that it became clear the syndrome was more
common than previously thought They proposed
the name of this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
WWWANGELMANTODAYCOM JULY AUGUST 2014
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
New SleepSafe
Manual Crank Safety Bed
Now Available
866-852-2337 wwwSleepSafeBedcom
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Wersquove all heard stories about unexpected
encounters that change peoplersquos lives in
profound ways While not all of us have
experienced that kind of event Dr Anna Larson
is one who has
It came when she was applying to medical
schools A friend mentioned that a couple she
knew was seeking a caregiver for their son Jake
Pritzker a young adult with Angelman syndrome
(AS) living in St Paul Minnesota and Anna
accepted the task Once she started working with
Jake it helped focus her future plans on
specializing in pediatric neurology and in
particular epilepsy and AS It is a path she is still
pursuing though her accomplishments are
already quite impressive
Dr Anna Larson A Life-Changing Encounter Leads To A Lifetimersquos Inspiration
Today as a recent graduate of the University of
Minnesota Medical School she is preparing to
start a residency at the prestigious Massachusetts
General Hospital where she will work with Drs
Elizabeth Thiele and Ronald Thibert leading
Angelman Syndrome Foundation (ASF)-funded
researchers and AS clinicians and members of
the ASF Scientific Advisory Committee In fact
she previously had a chance to assist in research
at Mass General while in medical school That
work too was inspired by her time with Jake
ldquoWe grew very closerdquo Anna said ldquoBeing able to
have Jake in my life before and during medical
school was incredibly important to me The
chance to spend time with him was always very
grounding and helpful to me because it expanded
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Continuedhellip
my focus from flash cards and exams to the
people I wanted to care forrdquo
Although fond of science throughout her early
years and during her undergraduate studies in
chemistry at Carleton College Anna had been
unsure of her precise path for the future ldquoSome
kids grow up knowing they are going to be say a
cardiothoracic surgeon for surerdquo Anna said ldquoBut
I didnrsquot know what kind of doctor I was going to
be Caring for Jake and learning about him and
AS was fundamental in terms of helping me find
my path in pediatric neurologyrdquo
Annarsquos inclination toward a medical career may
even have had its earliest roots in her childhood
When she was in grade school she took piano
lessons in a neighboring town Her dad drove her
to the lessons and on the way home because he
was a pastor they would often go to the hospital
to visit patients ldquoI have such strong and positive
memories of that of being at the hospital and
being comfortable with my dad there I think in
some ways that was an important piece for me
too In high school I also had a phenomenal
biology teacher who was very inspiring for me in
many ways and very much helped me find my
stride in sciencerdquo
Annarsquos work with Jake has also led to an active
role with the ASF ldquoI was very very luckyrdquo she
said ldquoWhen I first met the Pritzkers Fred was
president of the ASF I started working with Jake
in the summer of 2006 and I was able to go to the
ASF Biennial Conference in St Louis in 2007 ldquoI
met a lot of families and heard incredible talks
while there Later while conducting research at
Mass General in 2011 I attended the ASF
Conference again in Salt Lake City and had the
opportunity to present research at the ASF
Scientific Symposium and during the
Conferencerdquo
With nearly two-dozen publications and
presentations to her credit Annarsquos body of
research is already impressive
ldquoSome of our most exciting research has focused
on the efficacy of the low-glycemic-index
treatmentdiet (LGIT) in ASrdquo she explained
ldquoLGIT was developed by Dr Thiele and dietician
Heidi Pfeifer at Mass General and is a modified
version of the ketogenic diet which is a very low-
carbohydrate diet thatrsquos effective in seizure
management for some patientsrdquo
ldquoAnother important project looked at adults with
AS We conducted an interview series with
parents and caregivers of adults and adolescents
over the age of 16 by phone Then we compiled
those results and presented them at conferences
Now we are in the final stages of publication of
those results which are currently in peer review
This is the project that was most inspired by my
work with Jakerdquo
Of her day-to-day work with Jake Anna said
ldquoWhen we are together we organize his daily
schedule Hersquos involved in his community with a
group called Highland Friendship Club Itrsquos a
wonderful organization for young adults both with
and without disabilities for social inclusion and
involvement in community They do volunteer
work in the area and have fitness classes art
classes cooking classes and weekend movie
night We often spend time with his friends We
have meals together and exercise together toordquo
Anna recalls one particular day when she took
Jake to visit his grandfather who was in a nursing
home at the time The staff had set up a balloon-
volleyball net in the dining room and divided
residents and guests into teams ldquoJake was the
team captainrdquo said Anna ldquoand he was so into the
game It was a really special day for merdquo
Anna reports that Jake now 29 is doing quite
well And she believes the future holds promise
for individuals with AS ldquoI think itrsquos a really
exciting time a very hopeful time in historyrdquo she
said ldquoWersquore continuing to learn more and more
about the neurogenetics of AS and seeing the
work of the ASF is phenomenal in terms of
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
research funding and supporting
individuals with AS and their
families directly The research and
the energy around research in AS
continues to build in many ways
due to the support and focus of the
ASFrdquo
As for her own
future Anna is eager to begin her
residency at Mass General It will
take five years the first two of
which will focus on general
pediatric care The following three
years will be spent in the
neurology department At the end
she will be board eligible in both
pediatrics and neurology
ldquoAfter my
residency I intend to pursue an
epilepsy fellowship to become a
specialist in epilepsy carerdquo she
said ldquoI am interested in working
in an academic center potentially
in the future to be involved in
teaching For my clinical practice
Irsquom interested in the possibility of
being a caregiver for kids over
time Itrsquos a real honor and
privilege that child neurologists
often have working with kids as
they grow up I hope to have a
joint focus on both clinical care
and clinical research Thatrsquos the
dream anywayrdquo
That dream of
Anna Larsonrsquos continues to come
closer to reality As she embarks
on her residency at Mass General
there is little doubt that the
inspiration she found in Jake
Pritzker will stay with her
throughout her career ldquoI look
back at this experience as defining
my dedication to pediatric
neurologyrdquo she said ldquoThrough
Jake I have found my passionrdquo
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Books Recommended by Parents
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Abstract Angelman Syndrome (AS) is a
devastating neurological disorder caused by
disruption of the maternal UBE3A gene Ube3a
protein is identified as an E3 ubiquitin ligase
that shows neuron-specific imprinting Despite
extensive research evaluating the localization
and basal expression profiles of Ube3a in
mouse models the molecular mechanisms
whereby Ube3a deficiency results in AS are
enigmatic Using in vitro and in vivo systems
we show dramatic changes in the expression of
Ube3a following synaptic activation In
primary neuronal culture neuronal
depolarization was found to increase both
nuclear and cytoplasmic Ube3a levels
Analogous up-regulation in maternal and
paternal Ube3a expression was observed in
Ube3a-YFP reporter mice following fear
conditioning Absence of Ube3a led to deficits
in the activity-dependent increases in ERK12
phosphorylation which may contribute to
reported deficits in synaptic plasticity and
cognitive function in AS mice Taken together
our findings provide novel insight into the
regulation of Ube3a by synaptic activity and its
potential role in kinase regulation
Synopsis Nearly all research looking
into the molecular changes in the brains
of the Angelman syndrome mouse model
examine the brain in a static condition
Brain chemistry is incredibly difficult to
research and in order to measure
differences in the AS model versus non-
AS model it is often studied in brains
removed from anesthetized animals and
quickly put in cold solutions to stop any
biochemical activity In this study
memory formation was induced and then
biochemical changes were determined
They find that Ube3a protein is not
stable but changes in the brain following
neuronal activation from both maternal
and paternal genes Also a main enzyme
called extracellular regulated kinase
(ERK) known for years to be highly
involved in memory formation shows
reduced activity following memory
training These studies show that there
may be significant changes in the AS
mouse brain that have yet to be identified
under neuronal activity conditions
including changes in Ube3a gene
expression
By Edwin J Weeber PhD
The Latest Research for Angelman Syndrome
Learn Mem 2014 Jan
1621(2)98-104 doi
101101lm032375113
Activity-dependent
changes in MAPK
activation in the
Angelman Syndrome
mouse model
Filonova I1 Trotter JH
Banko JL Weeber EJ
Author information
WWWANGELMANTODAYCOM JULY AUGUST 2014
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Angelman Research Contrsquod
Cell Rep 2013 Aug 154(3)405-12 doi
101016jcelrep201307005 Epub 2013
Aug 1
Genetic reduction of the α1 subunit of
NaK-ATPase corrects multiple
hippocampal phenotypes in Angelman
syndrome
Kaphzan H1 Buffington SA Ramaraj AB
Lingrel JB Rasband MN Santini E Klann
E
Author information
Abstract
Angelman syndrome (AS) is associated with
symptoms that include autism intellectual
disability motor abnormalities and
epilepsy We recently showed that AS model
mice have increased expression of the
alpha1 subunit of NaK-ATPase (α1-NaKA)
in the hippocampus which was correlated
with increased expression of axon initial
segment (AIS) proteins Our developmental
analysis revealed that the increase in α1-
NaKA expression preceded that of the AIS
proteins Therefore we hypothesized that
α1-NaKA overexpression drives AIS
abnormalities and that by reducing its
expression these and other phenotypes could
be corrected in AS model mice Herein we
report that the genetic normalization of α1-
NaKA levels in AS model mice corrects
multiple hippocampal phenotypes including
alterations in the AIS aberrant intrinsic
membrane properties impaired synaptic
plasticity and memory deficits These
findings strongly suggest that increased
expression of α1-NaKA plays an important
role in a broad range of abnormalities in the
hippocampus of AS model mice
Synopsis
The axon initial segment (AIS) is an area of
the neuron that controls whether that neuron
fires or not Synaptic activity has to be
coordinated in order to depolarize the
neuron to a threshold that allows the neuron
to fire and give input onto another neuron
This is the basics of how signals from your
visual cortex (reading this sentence) is
processed and determined if it is of
importance to have this become a long-
lasting memory This highly coordinated
process relies on the synapse of course
however the outcome of synaptic activity is
the firing of activated neurons This is one
of the first studies to measure differences in
the AS mouse model at the AIS and find
increases in a protein called α1-NaKA
which is a sodium potassium ATPase This
protein controls the excitability of the
neuron This paper not only describes a
seminal finding in a potential therapeutic
target outside the synapse but also
fundamentally changes how we see the
global effect of Ube3a deficiency
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
WWWANGELMANTODAYCOM JULY AUGUST 2014
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
WWWANGELMANTODAYCOM JULY AUGUST 2014
Healthy Fats
Ingredients
-Avocado
-Can of Tuna
(in water or Olive
oil)
-Relish (fine
chopped pickles)
-Olives
GF Gluten Free
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
WWWANGELMANTODAYCOM JULY AUGUST 2014
Hello Summer
Hello Summer By Sybille Kraft Bellamy
Summer is the perfect time to
enjoy seasonal fruits and
vegetables
The LGIT diet is a healthy diet
when a high diversity of good
quality products are used No
ldquostrangerdquo food Only real natural
food without packaging Our
family like most of the families
who have an individual
following the LGIT eat low
glycemic food The principal
difference is the modification of
the fat ratio Max has a higher
fat ratio in all his meals in order
to obtain the effects of the LGIT
Since mid spring we have been
able to find great fruits and
vegetables at very reasonable
prices Vitamins and minerals
are essential to our health and
ordinary I will never stop
insisting of the amazing effects
the diet has on Maxrsquos health
This winter was long and very
cold Unfortunately Max got
quite sick at the end of it
contracting the flu strep and
mononucleosis (basically
simultaneously) He was very
tired he did have very small
amount of medication to help
him He was definitely under
the weather but we were not
scared about his condition We
had no hospital trips and very
little stress His mood was
excellent he did great at school
(only out four days) and was
sleeping more than usual
He is a trooper and a warrior
because he has the good
weapons to fight
critical for our developing
children The best way for
our body to metabolize
vitamins and minerals is to
have them in their natural
form and not synthetically
Pills will never replace a
healthy diet
Everyday Max drinks a
freshly prepared raw
vegetable juice with carrots
cucumber spinach mint and
olive oil He drinks about
4oz just before his snack It
stimulates his bowel
movement and triggers his
appetite
The list of fruits and
vegetables for the LGIT is
very large and covers most of
the regular products we
should all have in our
kitchen nothing out of the
ldquoTrue health starts with fresh fruits and veggiesrdquo
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
WWWANGELMANTODAYCOM JULY AUGUST 2014
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Thanks for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
