Inside This Issue

Winter 2002 Vol. 4, Issue 2

17V Kabuki journal Javier

Intelligence Profile

See Page 3

By Aida Fraga

Javier's story was written in April 2001. by his mother Aida. Aida wrote the story (n both En- glish and Spanish. We thank her for the extra effort. Unfortunately we were unable to publish the story right away so Aida pro- vided us with an update in May 2002.

Javier was diagnosed with Kabuki syndrome in 1995. He has short fingers, pseudo low set ears, big eyes and big ears. He has long eyelashes and arched eyebrows. We live in San Diego, California, USA.

Javier was born at 38 weeks of gestation from a normal delivery with no com- plications on June 25, 1992. He was born with teeth. He had lots of mucus in his nose and mouth and would not stop sneezing. Initially he was sent to the newborn nursery and there he was noted to have a temperature of 94.8 and inter- mittent grunting. After the pediatric team evaluated him he was transfèrred to the Infant Special Care Unit where he was noted to have a num-

See Javier Page 5

Living with Kabuki Syndrome - an Update

See Page 6

Javier By Aida Fraga

La historia de Javier Jite escrita en cthnï del 2001, por su mamá Aida. Aida escribió la historia en Inglés y Espoftoi nosotros agra- decemos a ella por su esfuerzo. Desafortunadamente no fue publicada la historia pronto. Aida nos puso al día en mago dei 2002.

Javier fue diagnosticado con Kabuki Síndrome en 1995. Javier también incluye dedos cortos, oídos abajo de lo nor- mal, ojos grandes, oídos gran- des, cejas y pestañas muy

Kabuki Syndrome Genetic Research

See Page 6

pobladas. Nosotros vivimos en San Diego California en Estados Unidos.

Javier nació a las 38 sema- nas de gestación de un parto normal y sin complicaciones en Junio 25 de 1992. Nació con dientes y tenia mucho moco en su boca y nariz y no paraba de destornudar. Inicialmerite Javier había sido enviado a los cuneros de los recién Nacidos y ahí se noto que tenia tempera- tura de 94.8 y su respiración era muy rápida. Después de que el eguipo de Pediatría lo evaluó fue transferido a la Unidad de Cuidados Especiales para Infantes donde se le noto que tenia numerosas anormali- dades físicas incluyendo congé- nitas, microcefalia, un agujerito en 1. parte superior de el oído izquierdo un higado y bazo palpables. Subsecuentemente un ultrasonido de el corazón mostró un defecto airial septal; un ultrasonido de riñones mostró riñones bilaterales cisticos y unos rayos x de la espina mostró una vértebra de la mariposa en T 10. El tenia hyperbiirubinemia moderada fue resuelta con foto terapia. (bilirrubina alta). El tenia hypoglycemia. El no podía controlar su azúcar subía

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Javier... de pagina i

mucho y luego bajaba mucho. Lo dieron de alta de el Hospital a la edad de 2 semanas. El necesitaba tener seguimiento por varios Doctores en Cardiologia, Clinica dei Riñón, Neurología, Audiologia, Oftal- mologia, Dismorfologia, su Pediatra y Clínica de Desarrollo. Sus cromosomas se enviaron y fueron normales.

Alas 3 semanas de edad Javier empezó a tomar Bicitra para acidosis metabolica Cróni- ca relacionada con su problema de riñôn el tomo este medica- mento por 7 años. El ahora toma un antibiótico para la protección de su riñón. Durante estos años el a estado teniendo infecciones dei oído, infecciones de la vejiga (orina) y Meningitis solo el virus. Ei tuvo una ciru- gía en Agosto 2000 para corre- gir que sus ojos se cruzaran el esta bien ahora. EI tuvo proble- mas de alimentación por Defen- sa Táctil en boca y cuerpo un programa de cepillado si ayudo mucho el todavía tiene este problema táctil pero no están severo como cuando era un niño pequeño. El es muy selec- tivo con lo que el come. Todavía estoy tratando de introducirlo a nuevas comidas su peso esta bien y su estatura también. El si tuvo problemas de alimenta- ción cuando era un bebe el necesito de mucho apoyo.

Un ultrasonido practicado en Enero de 2001 mostró que su riñón no esta creciendo y los quistes están creciendo. El va ha tener problemas en el futuro y yo espero estar lista para esto.

Javier esta en un Programa de Educación Especial en la Escuela el esta en 3r grado. El tiene Terapia Ocupacional, Terapia Física y Terapia dei Lenguaje y también Educación Física Adaptada desde que el

tenia 2 años en el Plantel de la Escuela. El tiene una Maestra maravillosa.

Tenemos un gran equipo de Doctores y otras personas que nos ayudan con la Educación de Javier y su salud, unas gracias muy especiales a Linda Lucas mi trabajadora social de el Centro Regional.

El necesita Seguimientos con Dismorfologia, Clinica de Riñones, su Pediatra y Oftalmó- logo todos los demás Doctores lo dieron de alta.

Javier es un niño feliz el es muy sociable el tiene una hermanita de 3 años llamada Tania. El quiere mucho a Tania. Nosotros como padres apoya- mos y tratamos de darle a Javier lo mejor de nosotros. Lo queremos mucho y damos gracias a Dios por damos la bendición de tener a Javier como nuestro hijo. Yo lo llamo luz de mis ojos.

Mayo del 2002

En Noviembre de el 2001 Javier comenzó a tener dolor de estómago y lo llevamos de emergencia a el hospital ellos pensaron que era su corazón pero siguió teniendo los dolores de estómago y su pediatra dijo que era Reflujo y ella lo refirió con un Gastrointerologo y el tomo Prilosec por 5 meses el esta libre de dolor por ahora espero que no los tenga mas el tiene una cita de seguimiento. EI Dr. también me dijo que es posible que tenga un intestino torcido el no esta seguro. Gra- cias a Dios que asta ahora ha estado bien El esta muy bien en la escuela por que tiene una grandiosa maestra Mrs. Weisbach. El esta creciendo y comiendo mas comidas diferen- tes. Quiero dar gracias a mi famffia por su apoyo. Gracias mamiy papi.

The Kabuki Journal is the newsletter of the Kabuki Syn- drome Network. The purpose of this newsletter is to provide in- formation and support to indi- viduals with Kabuki Syndrome and their families. We will not knowingly print inaccurate or li- belous material. We do not pro- mote or recommend any treat- ment, therapy, institution or pro- fessional. Consult with your pri- vate physicians/professionals for information and advice re- garding medical and therapeu- tic treatments.

KSN Contacts Canada/U.S. I)ean & Margot Schmiedge 8060 Stnithers Crescent Regina, Saskatchewan Canada S4Y 1J3 Phone: (306) 543-8715 Email: dschmiedge@cllcwest corn Web site: http://www.dlcwest.com / -'kabuki/

Incoming Newsletter Editor Heather M. Johnson 2503 Winding Oak Drive Charlotte, NC 28270 Phone: 704-543-9585 Email: hdmj@aol.com

Kabuki Syndrome Network, U.K. Kevin Sutcliffe, International Link 8 Enderby Close, Ovenden, Halifax HX3 5RR England Phone: 01422-342-458 Mobile phone: 07957-158-441 Email: k. sutcliffe@lineone.net or kabuki-syndrome©lineone. net

Netwerk Kabuki Syndroorn (European Kabuki Syndrome Network) Farn. Verouwen Beukenlaan 24 6241 ALI3unde The Nethertarids Phone: 043-3650207 Fax: + 32 43 3650207 Email: martijn95tip,nl Web site: http://home.planet.nl/ kabuki /syndroom.htrnl Information available in Dutch

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Intelligence The behavioural study

done in the Netherlands and Belgium in the past years also studied the intelligence profile of the children in-

volved. During the fifth Kabuki day in the Nether- lands, Prof. H. van der Vlugt gave a presentation of this study, which he did together with Mrs. K. Bernd sen.

To avoid a complicated discussion, he defined intelli- gence. as that is what being measured with intelligence test. Intelligence tests consist of certain tasks and assign- ments that the children have to perform. If you put the results of a lot of children in a graph, then this graph will have a hill-like shape. The top of this shape is defined as an Intelligence Quotient (IQ) of 100, and everything between an IQ of 85 arid 115 is considered as a normal intelligence. A problems is that there is not so much known about the children at the bottom of the graph, simply because there are not so many of them. He stated that below an IQ of 40, it is not possible to make any meaningful statement any- more about the intelligence level.

During the study, eleven children were examined. Their IQ ranged from below 40 to 72. Intelligence can be divided into verbal and non- verbal. Verbal intelligence has to do with speaking, listening and language. Non- verbal intelligence consists of everything else, which in- cludes visual perception, abstract reasoning, and comprehending logical rela- tionships. With eight of the eleven children their verbal intelligence was clearly stron-

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profile of children with Kabuki By Frans Faase

ger than their non-verbal intelligence.

To get an impression of the verbal intelligence a num- ber of tests were performed. These were:

Knowledge questions. Questions like: who discovered America? The children did not score high on this, probably also because they did not get much education. Similarities. They were asked to explain the similarity between a sweatshirt and a pair of trousers. They scored better with this. They realized that these were things you could put on, but often they did not present the abstract concept of clothes. Simple maths. With this they were weaker on the average. Idiom. This is clearly one of their qualities. Their knowledge of words and their mean- ing can be considered as good compared to their average lQ score. Insight questions. They scored well with these especially if it con- cerned concrete situa- tions. Repeating aloud num- ber sequences. This is something that requires attention and concen- tration. Something that appeared to be difficult for them

Although the children are stronger in the verbal range, it should be remarked that they are rather weak with respect to the kind of language that is often used in an educational setting.

The non-verbal intelligence was also tested by a variety of means:

Incomplete drawings. For example, they were shown a drawing of a face without a nose. With this kind of test they performed reason- ably well. Cartoons. They were asked to put a number of cartoons in the right order. With this they also scored reasonably well. Block patterns. They were given a set of blocks that were par- tially coloured and asked to put them together such that the colour pattern matched a given example pat- tern. They did have great difficulties with this, especially with asymmetric example patterns. They had the tendency to rotate these patterns so that they would look more sym- metric. Jigsaw puzzles. This also posed great prob- lems. Codes. With this experi- ment they had to mark certain symbols in sequences of symbols. They did not score too well, probably also because of their low motor skills. Labyrinths. With this test some scored very well, others did not understand it at all, and simply drew a straight line from the entrance to the exit.

What is the cause of the clear difference in verbal and

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Intelligence... continued from page 3

non-verbal intelligence that is being observed? We know language abilities are found in the left hemisphere, while the right hemisphere is more visual oriented. We know that the right side of our brain is good at recognizing faces, and that the left side is especially good at performing sequential activities. During the develop- ment of our brains new kind of tasks are often first performed by the right side of the brain, but as soon as the brain has mastered the tasks, when they have become automatic, they migrate to the left side of the brain.

lt seems that with the children there is something wrong with the right side of the brain. Furthermore, you also see problems with the visual and tactile perception. All this could indicate that there is something wrong with the myelination process in the brain. Neuron cells have den- drites and axons. Through the dendrites the cell body receives signals. The axon conducts signals away from the cell body. Some axons are wrapped in a myelin sheath formed from the plasma membranes of so-called Schwann cells. Myeli- nation is the process of the formation of myelin sheaths around the axons. This pro- cess already starts before the birth and is greatly finished at about three years of age, but it continues until thirty years of age for certain parts of the brain in the frontal lobes. If there are problems with this process, then there will not be enough myelin surrounding the axons in the end. Because of this, the axons will not be able to transport the signals as well and as fast as they should, especially if the signals

follow each other rapidly. The degree of myelination in the right hemisphere is stronger than the left. This explains why, if the myelination process is disturbed, the right hand side suffers most.

Also the difference be- tween verbal and visual per- ception can be explained. When a child is born the myelination of the auditory nerves is already almost com- plete. A very young baby can already discern the direction from which noises come. The degree of myelination of the visual nerves is still very low, and improves rather slow. That is why children books need to have big letters. A low degree of myelination also explains the sensory integra- tion issues and the low muscle tone, because these signals need to travel a long way. A distorted myelination is not specific to the Kabuki syn- drome. It is also seen with a number of other syndromes, as for example with Williams syndrome.

With respect to children with the Kabuki syndrome the following advices can be given:

Be verbal. Some chi!- dren have difficulties recognizing facial ex- pressions. Say things very clearly. Some do not under- stand figurative expres- sions. Give them time to pro- cess. Give verbal expla- nation of what is going to happen shortly before they do. Do not over feed them with too many stimuli.

Also in the Non-verbal Learning Disorder (NLD) there is a problem with non-verbal intelligence. Children with a normal intelligence with which NLD is diagnosed are known to encounter very grave problems

when reaching adolescent because they fail to establish normal social contacts. Luck- ily, children with the Kabuki syndrome will not have these kinds of problems because they are much less reflective. They are simply not so strongly aware of the fact that their behaviour is looked on as a little strange by those around them, and because of this they are probably not restricted by worries about what others might think of them.

The hearing problems, which some of the children might have, probably do not affect the balance between verbal and non-verba! intelli- gence score. The difference does become more apparent when the children grow older.

According to Prof. van der Vlugt no medical treatment for problems with myelination has yet been found, but if it were it could also be used to treat other demyelination diseases such as Multiple Sclerosis. Prof. vari der Vugt himself is not involved in any myelina- tion research. He is only an expert in the field of measuring intelligence of children with mental handicaps.

With respect to learning to read, his suggestion is to start as early as possible, because they will need more time to learn to read. Reading requires the association of sounds (verbal) with symbols (non- verbal). Quite often, a sudden improvement is seen.

It is important to realize that non-verbal communica- tion is often not understood. This can also be one of the causes behind behaviour problems. His most important advice with respect to educa- tion is that attention should be paid to both verbal and non- verbal intelligence, but that we should aim at keeping it enjoy- able for them.

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Javier... from page 1

ber of physical abnoi iiialities including microcephaly, a pit in the superior aspect of the left ear, arid palpable liver and spleen. Subsequently, a cardiac ultrasound showed an atrial septal defect, a renal ultra- sound showed bilateral cystic kidneys and a spine x-ray showed butterfly vertebrae at TiO. He had moderate hyperbi- lirubinemia (high biirubine) resolved with phototherapy. He had hypoglycemia. He couldn't control his sugar: it would go high and then low. He was discharged at the age of 2 weeks. He needed to be followed by several doctors in Cardiol- ogy, Renal Clinic, Neurology, Audiology, Ophthalmology, Dysmorphology, primary care physician, and the Development Clinic. His chromosomes were sent and they were normal.

At 3 weeks of age Javier began taking Bicitra for Chronic Metabolic Acidosis related to his renal problem. He took this medicine for 7 years. He is now on an antibiotic for his kidney protection. During these years he's been having ear infections, urine infections and the Menin- gitis virus. He had eye surgery in August 2000 for correction of eye crossing. He is doing fine now. He had eating problems because of tactile defensiveness. A brushing program did help a lot. He still has it a little but not as bad as when he was a little boy. He is very selective with what he eats. I'm working on getting him into new foods. His weight and height are fine even though when he was a baby he needed lots of support. An ultrasound done in January 2001 showed that his kidney is not growing and the cysts are growing. He will have problems in the future and I hope I will be

ready for this. Javier is in a special educa-

tion program and is in the third grade. He has had Occupa- tional, Physical and Speech therapy and Adaptive Physical Education since he was 2. He has a wonderful teacher.

We have a great team of doctors and other people that help us with Javier's education and health. A special thanks to Linda Lucas my social worker from Regional Center. He still has follow ups with Dysmorphology, Renal clinic, Ophthalmology and primary care physician. The rest of the doctors discharged him.

Javier is a happy boy. He is very sociable. He has a 3-year- old sister named Tania and he loves her very much. We as parents support Javier and try to give Javier the best of us. We love him very much and thank God for giving us the blessing of having Javier as our son. I call him "light of my eyes".

May 2002 Update In November 2001, Javier

started having stomachaches. We rushed him to the hospital. They thought it was his heart but he continued having stoni- achaches. His pediatrician said it was Reflux and she referred him to a Gastroenterologist. He took Prilosec for 5 months. He is free of pain for now. I hope he does not have them any more. He has a follow up appoint- ment. The doctor also told me it is possible that he has a twisted intestine but he is not sure. Thank God he is okay for now. He is doing great at school because he has a great teacher, Mrs. Weisbach. He is growing and eating more different foods. I want to say thank you to my family for their support. Thank you mom and dad.

Letter from the Editor Dear Friends,

KSN member Heather Johnson will be our new Ka-

buki Journal editor beginning with the next issue. I am moving on to focus on other responsibilities. I want to thank all of the families and professionals who have con- tributed their time, effort and knowledge over the last few years. KSN has come a long way since Margot Schmiedge and I first discussed the possi- bility of a newsletter in 1998. Thank you Margot, for your inspiration, guidance and patience but most of all for your friendship. None of us would have ever connected if it hadn't been for your vision. Thank you mom and dad for putting so much of your hearts into the production of this newsletter and for continuing to work with Heather in getting the information out. You're the best grandparents a Kabuki Kid could have. And finally, best wishes to Heather. I

know she will do a great job. She would appreciate your ideas and help with articles.

You may contact her at:

Heather M. Johnson 2503 Winding Oak Drive Charlotte, NC 28270 Phone: 704-543-9585 Email:

Looking forward to the next issue!

Dawn Rocco KSN member

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Living with Kabuki Syndrome - an Update Since I last wrote a lot of

things have happened, some for the good and some for the bad. As always life with Ka- buki syndrome is like a great roller coaster and where it will end nobody knows.

I had my left shoulder operated on when I was 18 years old and I was just about to start my second semester of the GNVQ Business Intermedi- ate course. Due to some com- plications with the operation I

had to do my second semester in September later that year. During the operation my heart had stopped and I was sent to see a cardiologist the Monday after my operation, which was on a F'riday. As well as being in considerable pain, which is quite normal following an operation, my family and I

were nervous but lucky to find that my heart was OK. It was just my slight heart mummer playing up due to having a seizure.

After a lot of pain and hard work by myself, my Physiotherapist, consultant and parents I was ready to go back to college to finish my course. I found it very enjoy- able, rewarding and hard. I helped my new classmates with their work and also taught my carers* to use the computer. Through my hard work I was rewarded with the Best GNVQ Business interme- diate student of the year award. I couldn't believe it. After I was always told I

wouldn't amount to anything at school I was being pre- sented with this award by the local MP (Member of Parlia- ment) in front of my parents. friends and their families,

By Karen Burbridge

tutor's and the principle and the Mayor of Wakefield at that time. Last year I finished a new computer course called ECDL Computer licence (I can now drive a Computer ha ha!) I

have just started an Advanced Level in Computers. It's one step down from a degree. As you can image, my mum dad and brother are really proud of me. It's a two-year course. The College wants me to do a teaching degree after this course.

I have been having a lot of seizures, which aren't epileptic but are non-psychological and doctors don't know yet what is causing them and don't know how to treat them. The sei- zures have caused my left shoulder to dislocate, my left kneecap to dislocate and my eyes to be damaged. I now face the prospect of having another operation on my shoulder and a possibility of having to have surgery on my knee. The good news is I have an appointment provisionally made to see genetics to see if they can refer me to a neurologist for treat- ment of my seizures.

In September I had an emergency dental appointment as I was in extreme pain with one of my teeth. I went and saw my dental surgeon and found that the right hand side and jaw have calcified. He said he thinks it's due to Kabuki Syndrome and that it would be a good idea to let everyone know so you can mention it to your dentists. My teeth will have to be removed soon and I

will be given false teeth. As you know it's common in a lot of Kabuki kids not to have adult teeth and I'm no exception

because I haven't either. I will also have to have my bottom right wisdom tooth removed because it's deformed.

Even though all these things are happening I am still determined that in the future I

will be able to drive and fulfil my ambition of being a Learn- ing support assistant & con- tinue trying to help others who care for and have Kabuki Syndrome. Until I can achieve & fulfil my ambition I am trying to continue at college and do a further computer course to improve my skills and prospects in getting a job. My door is always open to anyone. If I can help I will.

*editor's note: Karen informed me that in England "carers" are what we would call a personal aide in the United States.

Kabuki Syndrome Genetic

Research Conti nues

Researchers at The Children's Hospital of Philadelphia con- tinue to be interested in iden- tifying the genes that are involved in Kabuki syndrome. There is no cost to participate and all information is kept confidential. If you would like further information, please contact:

Karen Russell, M.S. Genetic Counselor 215-590-2920; russellk@email.chop.edu

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