Web view5.6 Say at least one word ... Febrile Seizures (request all in this section ☐) 6.1.1 Ever had febrile seizures. 6.1.6 Seizure frequency when individual

Application for Level 3 Access to the Global Angelman Syndrome Registry

This form is required if you wish to request Level 3 access to the Global Angelman Syndrome Registry.

Part 2a: Project Information

Project Title:

Project description, 1000 words max. Include:

- Purpose - Specific aims - Background

- Methods/ analysis - Source of funding - Reason for registry access

Time frame for project completion:

Has this project been reviewed by an Institutional Review Board (IRB) or Human Research Ethics Committee (HREC)? Yes ☐ No ☐

IRB/ HREC name:

IRB/ HREC approval number:

1G4. Level 3 data access form V2 1APR2017

Part 1: Requestor/ Principal Investigator Information

Requestor/ PI Name and Title:

Requestor/ PI Qualifications:

Requestor/ PI Affiliation/ Company:

Requestor/ PI Email:

Requestor/ PI Mailing Address:

Street Address 1

Street Address 2

City

State/ Providence

Zip/ Postal Code

Country

Proposed Research Partners, if relevant:

Project Sponsor, if relevant:


Funding status and source:

Part 2b: Project Protocol

Protocol summary (lay language)

Inclusion criteria:

Exclusion criteria:

Anticipated dates of recruitment:

Clinicaltrials.gov status:

Study contact details:

Name:

Email:

Phone:

Please attach copies of the following:

Study recruitment materials: ☐

Participant information and consent form(s): ☐

IRB/ Ethics status or approval letter: ☐

Investigator biography and CVs: ☐


[INSERT PROJECT DESCRIPTION HERE]

[INSERT PROTOCOL SUMMARY HERE]


Part 3a: Request Information

Requesting raw data file in .csv format: ☐ Yes, please go to part 3b

☐ No, continue below

Assistance with recruiting for a clinical treatment trial or other study

☐ Yes, please outline your request in the box below

☐ No, continue below

All other level 3 request (see below), including :

- Request for a new model or data collection method to be added to the registry

- Data request for commercial purposes.

Please contact the data curator with a brief outline of your proposed request prior to submitting a full application.

Part 3b: Data Elements Requested

If you are requesting a raw data file in .csv format, please check the boxes to indicate the data elements you require. Indicate any parameters for the dataset below (e.g. individuals born after 1 January 1970):

Exclusion criteria:

Module 0. Demographics (request all in this module ☐)

Demographics0.2.5 Date of birth (birth year only given) ☐ 0.2.7 Country of birth ☐0.2.9 Sex ☐ 0.3.6 Country of residence ☐0.2.14 Living status ☐

Note: identifiable/ potentially reidentifiable information cannot be provided


[INSERT REQUEST DETAILS HERE]


Module 1. Newborn and Infancy (request all in this module ☐)

Newborn history (0-1 Month; request all in this section ☐)1.1.1 Difficulty maintaining temperature ☐ 1.1.9 Inability to latch ☐1.1.2 Description of feeding during infancy

☐ 1.1.10 Ineffective suck ☐

1.1.3 Experienced difficulties feeding as a newborn

☐ 1.1.11 Biting ☐

1.1.4 Feeding assistance used ☐ 1.1.12 Vomiting ☐1.1.5 Description of how individual was

fed as a newborn☐ 1.1.13 Arching ☐

1.1.6 Age individual stopped breastfeeding (years)

☐ 1.1.14 Excessive movements ☐

1.1.7 Age individual stopped breastfeeding (months)

☐ 1.1.15 Irritable with feeds ☐

1.1.8 Refusal to nurse ☐ 1.1.16 Other behavioural issues ☐

Infancy history (1-12 Months; request all in this section ☐)1.2.1 Happy in first 12 months of life ☐ 1.2.9 Difficulties with asthma/wheezing ☐1.2.2 Placid in first 12 months of life ☐ 1.2.10 Difficulties with coughing ☐1.2.3 Easy going in first 12 months of life ☐ 1.2.11 Difficulties with pneumonia ☐1.2.4 Affectionate in first 12 months of life

☐ 1.2.12 Difficulties with bronchitis ☐

1.2.5 Difficulties with suck/ swallow ☐ 1.2.13 Other behavioural issues ☐1.2.6 Difficulties with failure to gain

weight☐ 1.2.14 Other health problems ☐

1.2.7 Reflux/gastro/oesophageal problems

☐ 1.2.15 Description of other health problems

☐

1.2.8 Difficulties with transitioning to solid food

☐

Module 2. History of Diagnosis and Results (request all in this module ☐)

History of Diagnosis (request all in this section ☐)2.1.1 Age at diagnosis (years) ☐ 2.1.7 History that led to diagnosis (other) ☐2.1.2 Age at diagnosis (months) ☐ 2.1.8 Misdiagnoses ☐2.1.3 Current age (years) ☐ 2.1.9 Misdiagnoses other ☐2.1.4 Individual who made diagnosis ☐ 2.1.10 Dual diagnosis ☐2.1.5 Individual who made diagnosis

(other)☐ 2.1.11 Other diagnoses ☐

2.1.6 History leading to diagnosis ☐

Individual with Angelman Syndrome Results (request all in this section ☐)2.2.1 Genetic test for Angelman syndrome

☐ 2.2.3 Test result ☐

2.2.2 Type of test performed ☐





Module 3. History of Diagnosis and Results (request all in this module ☐)

Pneumonia / Respiratory (request all in this section ☐)3.1.1 Ever had pneumonia ☐ 3.1.4 Severity of episodes ☐3.1.2 Pneumonia related to aspiration ☐ 3.1.5 Other respiratory problems ☐3.1.3 Number of episodes per year ☐ 3.1.6 Description of other respiratory

problems ☐

Strep Throat (request all in this section ☐)3.2.1 Ever had strep throat ☐ 3.2.3 Severity of episodes ☐3.2.2 Number of episodes per year ☐

Gastroesophageal Reflux (request all in this section ☐)3.3.1 Ever had gastroesophageal reflux ☐ 3.3.8 Age in months when

gastroesophageal reflux recurred☐

3.3.2 Age at diagnosis (years) ☐3.3.3 Age at diagnosis (months) ☐ 3.3.9 Severity of recurring episodes ☐3.3.4 Severity, if diagnosed ☐ 3.3.10 Medical treatment required, if

recurring☐

3.3.5 Medical treatment required, if diagnosed

☐ 3.3.11 Surgical treatment required, if recurring

☐

3.3.6 Surgical treatment required, if diagnosed

☐ 3.3.12 Age in years when gastroesophageal reflux resolved

☐

3.3.7 Age in years when gastroesophageal reflux recurred (if recurring)

☐ 3.3.13 Age in months when gastroesophageal reflux resolved

☐

Strep Throat (request all in this section ☐)3.4.1 Ever had constipation ☐ 3.4.3 Management of constipation ☐3.4.2 Severity of episodes ☐ 3.4.4 If other, please specify ☐

Vomiting with Feeds (request all in this section ☐)3.5.1 Ever vomited with feeds ☐ 3.5.3 Surgical treatment required (if yes) ☐3.5.2 Medical treatment required (if yes) ☐

Gagging (request all in this section ☐)3.6.1 Ever experienced gagging ☐ 3.6.2 Situations when gagging occurs ☐

Tight Heel Cords or Toe Walking (request all in this section ☐)3.7.1 Ever had tight heel cords or toe

walking☐ 3.7.3 Tight heel cords/ toe walking

recurring☐

3.7.2 Treatments used (if yes) ☐



Module 3. Illnesses or Medical Problems (continued)

History of Diagnosis (request all in this section ☐)3.8.1 Ever had scoliosis ☐ 3.8.4 Age at diagnosis (months) ☐3.8.2 Treatments used (if yes) ☐ 3.8.5 Age when bracing commenced

(years)☐

3.8.3 Age at diagnosis (years) ☐ 3.8.6 Age when bracing commenced (months)

☐

Dental Problems (request all in this section ☐)3.9.1 Ever had dental problems ☐ 3.9.3 Other dental problems ☐3.9.2 Number of fillings ☐

Obesity (request all in this section ☐)3.10.1 Ever had obesity ☐ 3.10.8 Current weight in lb ☐3.10.2 Age of onset (years) ☐ 3.10.9 BMI (metric) ☐3.10.3 Age of onset (months) ☐ 3.10.10 BMI (imperial) ☐3.10.4 Current height in meters/metres ☐ 3.10.11 Activity level ☐3.10.5 Current height in feet (ft) ☐ 3.10.12 Food intake ☐3.10.6 Current height in inches (in) ☐ 3.10.13 Food seeking behaviours ☐3.10.7 Current weight in kg ☐

Failure to Thrive (request all in this section ☐)3.11.1 Ever had anorexia/ failure to thrive ☐ 3.11.5 Duration of failure to thrive

(years)☐

3.11.2 Age of onset (years) ☐ 3.11.6 Duration (months) ☐3.11.3 Age of onset (months) ☐ 3.11.7 Duration (weeks) ☐3.11.4 Age of onset (weeks) ☐

Tube Feeding (request all in this section ☐)3.12.1 Individual tube fed ☐ 3.12.5 Duration tube fed (weeks) ☐3.12.2 Tube fed type ☐ 3.12.6 Reason for placement ☐3.12.3 Duration tube fed (years) ☐ 3.12.7 Method of tube feeding ☐3.12.4 Duration tube fed (months) ☐ 3.12.8 Description of complications ☐

Eye Problems (request all in this section ☐)3.13.1 Ever had strabismus ☐ 3.13.4 Treatment of recurrances ☐3.13.2 Treatments used ☐ 3.13.5 Ever had cortical visual

impairment☐

3.13.3 Strabismus recurring ☐ 3.13.6 Other visual impairments ☐



Module 3. Illnesses or Medical Problems (continued)

Hearing Problems (request all in this section ☐)3.14.1 Ever had ear infections ☐ 3.14.3 Ever had hearing tested ☐3.14.2 Number of episodes per year ☐ 3.14.4 Hearing test result ☐

Neurological Problems (request all in this section ☐)3.15.1 Auditory processing disorders ☐ 3.15.4 Age of onset in months ☐3.15.2 Cortical myoclonus ☐ 3.15.5 Age of onset in weeks ☐3.15.3 Cortical myoclonus age of onset

(years)☐ 3.15.6 Severity (if diagnosed) ☐

Other Medical Conditions (request all in this section ☐)3.16.1 Other medical conditions ☐ 3.16.6 Severity ☐3.16.2 Name of condition ☐ 3.16.7 Episodes/ recurrences ☐3.16.3 Age of onset (years) ☐ 3.16.8 Frequency of episodes ☐3.16.4 Age of onset (months) ☐ 3.16.9 Other comments ☐3.16.5 Age of onset (weeks) ☐

Module 4. Medical History (request all in this module ☐)

Allergies (request all in this section ☐)4.1.1 Diagnosed allergies ☐ 4.1.3 Allergy details ☐4.1.2 Type of allergies ☐

Intolerances (request all in this section ☐)4.2.1 Intolerances ☐ 4.2.2 Intolerance details ☐

Hospitalisations and Surgical Procedures (request all in this section ☐)4.3.1 Ever been hospitalised ☐ 4.3.4 Number of surgeries ☐4.3.2 Had surgical procedures ☐ 4.3.5 Undergone anaesthesia ☐4.3.3 Number of surgeries ☐ 4.3.6 Number of anaesthesias ☐

Details of Hospitalisation/ Surgery (request all in this section ☐)4.4.1 Admission date (year only) ☐ 4.4.6 Reason for surgery ☐4.4.2 Approximate date if unknown (year

only)☐ 4.4.7 Reason for surgery - other ☐

4.4.3 Age at admission (years) ☐ 4.4.8 Number of days in hospital ☐4.4.4 Age at admission (months) ☐ 4.4.9 Level of care ☐4.4.5 Hospitalisation reason ☐

Module 4. Medical History (continued)



Seizure History (request all in this section ☐)4.4.1 Ever experienced seizures ☐

Module 5. Behaviour and Development (request all in this module ☐)

Allergies (request all in this section ☐)5.1.1 Muscle tone ☐ 5.1.3 Muscle tone in limbs ☐5.1.2 Muscle tone in trunk ☐

Developmental History (request all in this section ☐)

Frequency Capability Years Months

5.2 Look at you clearly ☐ ☐ ☐ ☐5.3 Sit up ☐ ☐ ☐ ☐5.4 Crawl or scoot ☐ ☐ ☐ ☐5.5 Walked (at least a few steps) ☐ ☐ ☐ ☐5.6 Say at least one word ☐ ☐ ☐ ☐5.7 Hold a rattle ☐ ☐ ☐ ☐5.8 Hold a bottle ☐ ☐ ☐ ☐5.9 Transfer items between hands ☐ ☐ ☐ ☐

NOTE: Frequency – how often the individual with AS performs this activity; Capability – difficulty associated with performing the activity; Years/ Months – age at which the individual first performed activity.

Current Development: General Impressions (request all in this section ☐)5.10.1 Ability to learn ☐ 5.10.2 Loss of skills ☐

Current Development: Speech and Language (request all in this section ☐)5.11.1 Presence of expressive language ☐ 5.11.3 All forms of communication used ☐5.11.2 Best verbal communication ☐ 5.11.4 Best ability to respond to requests ☐

Current Development: Communication (request all in this section ☐)5.12.1 Ability to use spoken words ☐ 5.12.7 Ability to use eye tracking devices ☐5.12.2 Ability to use gestures ☐ 5.12.8 Ability to use low tech AAC ☐5.12.3 Ability to use signing ☐ 5.12.9 Ability to use mid tech AAC ☐5.12.4 Ability to use visual pictures ☐ 5.12.10 Ability to use high tech AAC ☐5.12.5 Ability to use formal PODD books ☐ 5.12.11 Preferred method of

communication with caregiver☐

5.12.6 Ability to use iPad apps, picture to voice etc.

☐



Module 5. Behaviour and Development (continued)

Gross Motor Function (request all in this section ☐)5.13.1 Best mobility ☐ 5.13.4 Gait features differing from

typical development☐

5.13.2 Use of mobility support ☐ 5.13.5 Gait progress ☐5.13.3 Gait in comparison to typically

developing population☐

Gross Motor Function (request all in this section ☐) Frequency Capability Years Months5.14 Rolling across the floor ☐ ☐ ☐ ☐5.15 Crawling ☐ ☐ ☐ ☐5.16 Shuffles or scoots when seated ☐ ☐ ☐ ☐5.17 Standing ☐ ☐ ☐ ☐5.18 Walking ☐ ☐ ☐ ☐5.19 Running ☐ ☐ ☐ ☐5.20 Climbing stairs ☐ ☐ ☐ ☐5.21 Jumping ☐ ☐ ☐ ☐


Gross Motor Function (request all in this section ☐) Frequency Capability Years Months5.22 Hold things (such as a stuffed toy) ☐ ☐ ☐ ☐5.23 Point to indicate things ☐ ☐ ☐ ☐5.24 Transfer things between their hands ☐ ☐ ☐ ☐5.25 Hold a cup or tumbler and drink ☐ ☐ ☐ ☐5.26 Hold a pencil and scribble ☐ ☐ ☐ ☐5.27 Hold a pencil and draw ☐ ☐ ☐ ☐5.28 Finger feed ☐ ☐ ☐ ☐5.29 Hold a spoon and feed ☐ ☐ ☐ ☐5.30 Use a fork ☐ ☐ ☐ ☐5.31 Catch a large ball ☐ ☐ ☐ ☐5.32 Catch a small ball ☐ ☐ ☐ ☐5.33 Do up velcro ☐ ☐ ☐ ☐5.34 Do up buttons or zippers ☐ ☐ ☐ ☐





Adaptive Skills - Dressing (request all in this section ☐)


5.35 Puts up hands to help dress ☐ ☐ ☐ ☐5.36 Removes simple clothes like pants or socks ☐ ☐ ☐ ☐5.37 Removes more complex clothes such as shirts ☐ ☐ ☐ ☐5.38 Dresses self even if not always correct ☐ ☐ ☐ ☐5.39 Dresses self without assistance ☐ ☐ ☐ ☐5.40 Chooses appropriate clothes (e.g. warm clothes if

cold)☐ ☐ ☐ ☐


Adaptive Skills – Toileting and Continence (request all in this section ☐)


5.41 Individual is continent (toilet trained) ☐ ☐ ☐ ☐5.42 Shows indicators of toileting behaviours ☐ ☐ ☐ ☐5.43 Timed go to the toilet ☐ ☐ ☐ ☐5.44 Individual indicates when he/ she wants to use

toilet☐ ☐ ☐ ☐

5.45 Individual is continent of stools ☐ ☐ ☐ ☐5.46 Individual is continent of urine during day ☐ ☐ ☐ ☐5.47 Individual is continent of urine during night ☐ ☐ ☐ ☐


Adaptive Skills - Eating (request all in this section ☐)5.48.1 Textures or tastes individual does

not like☐ 5.48.2 Examples of disliked textures ☐

Adaptive Skills – Eating (request all in this section ☐) Frequency Capability Years Months5.49 Fussiness about food ☐ ☐ ☐ ☐5.50 Chews all textures ☐ ☐ ☐ ☐5.51 Feeds self using fingers or utensils ☐ ☐ ☐ ☐5.52 Needs support with feeding from a parent/

caregiver☐ ☐ ☐ ☐

5.53 Indicates when he/ she is full ☐ ☐ ☐ ☐5.54 Uses supplementation in forms of additional

formulas☐ ☐ ☐ ☐





Activities (request all in this section ☐)5.55.1 Preferred activities ☐ 5.55.2 Description of other ☐

Behavioural (request all in this section ☐)5.56.1 Rating of problematic behaviour

on a scale of 1 to 10 compared to age matched typical peers

☐ 5.56.17 Exhibits hyperactivity ☐

5.56.2 Exhibits repetitive behaviours such as slapping the wall

☐ 5.56.18 Exhibits poor attention ☐

5.56.3 Exhibits focal hand movements ☐ 5.56.19 Exhibits good concentration on things they enjoy (e.g. iPad games)

☐

5.56.4 Exhibits whole body movements ☐ 5.56.20 Exhibits fascination with water ☐5.56.5 Exhibits mouthing or chewing ☐ 5.56.21 Exhibits impulsivity (e.g. running

on road)☐

5.56.6 Exhibits agitation in new situations ☐ 5.56.22 Exhibits frequent smiling at nothing in particular

☐

5.56.7 Exhibits fear of strangers ☐ 5.56.23 Exhibits frequent appropriate smiling

☐

5.56.8 Exhibits socialisation with anyone ☐ 5.56.24 Exhibits spontaneous laughter at nothing in particular

☐

5.56.9 Exhibits fear of new situations ☐ 5.56.25 Exhibits night time laughter ☐5.56.10 Exhibits anxious behaviours ☐ 5.56.26 Exhibits appropriate laughter ☐5.56.11 Description of anxious behaviours ☐ 5.56.27 Exhibits separation anxiety ☐5.56.12 Exhibits oppositional behaviours ☐ 5.56.28 Exhibits fear of being left at

school or other care situations☐

5.56.13 Exhibits biting ☐ 5.56.29 Exhibits skin picking ☐5.56.14 Exhibits hair pulling ☐ 5.56.30 Exhibits head banging ☐5.56.15 Exhibits hitting ☐ 5.56.31 Exhibits self hitting ☐5.56.16 Exhibits grabbing ☐

Module 6. Epilepsy (request all in this module ☐)

Febrile Seizures (request all in this section ☐)6.1.1 Ever had febrile seizures ☐ 6.1.6 Seizure frequency when individual

has a fever☐

6.1.2 Age of onset (years) ☐ 6.1.7 Number of seizures within timeframe

☐

6.1.3 Age of onset (months) ☐ 6.1.8 Total number of seizures ☐6.1.4 Age of cessation (years) ☐ 6.1.9 Other comments on seizure type ☐6.1.5 Age of cessation (months) ☐



Module 6. Epilepsy (continued)

Generalised Seizures (request all in this section ☐)6.2.1 Ever had generalised seizures ☐ 6.2.7 Number of seizures within

timeframe ☐

6.2.2 Age of onset (years) ☐ 6.2.8 Seizure triggers ☐6.2.3 Age of onset (months) ☐ 6.2.9 Other comments on seizure

triggers☐

6.2.4 Age of cessation (years) ☐ 6.2.10 Total number of seizures ☐6.2.5 Age of cessation (months) ☐ 6.2.11 Other comments on seizure type ☐6.2.6 Seizure frequency ☐

Tonic-Clonic Seizures (request all in this section ☐)6.3.1 Ever had tonic-clonic seizures ☐ 6.3.7 Number of seizures within

timeframe ☐


triggers☐


Absence Seizures (request all in this section ☐)6.4.1 Ever had absence seizures ☐ 6.4.7 Number of seizures within

timeframe ☐


triggers☐


Typical Absence Seizures (request all in this section ☐)6.5.1 Ever had typical absence seizures ☐ 6.5.7 Number of seizures within

timeframe ☐


triggers☐





Atypical Absence Seizures (request all in this section ☐)6.6.1 Ever had atypical absence seizures ☐ 6.6.7 Number of seizures within

timeframe ☐


triggers☐


Myoclonic Absence Seizures (request all in this section ☐)6.7.1 Ever had myoclonic absence seizures

☐ 6.7.7 Number of seizures within timeframe

☐


triggers☐


Eyelid Myoclonia Absence Seizures (request all in this section ☐)6.8.1 Ever had eyelid myoclonia absence

seizures☐ 6.8.7 Number of seizures within

timeframe ☐


triggers☐


Myoclonic Seizures (request all in this section ☐)6.9.1 Ever had myoclonia seizures ☐ 6.9.7 Number of seizures within

timeframe ☐


triggers☐





Myoclonic Atonic Seizures (request all in this section ☐)6.10.1 Ever had myoclonia atonic seizures ☐ 6.10.7 Number of seizures within

timeframe ☐


triggers☐


Clonic Seizures (request all in this section ☐)6.11.1 Ever had clonic seizures ☐ 6.11.7 Number of seizures within

timeframe ☐


triggers☐


Tonic Seizures (request all in this section ☐)6.12.1 Ever had tonic seizures ☐ 6.12.7 Number of seizures within

timeframe ☐


triggers☐


Atonic Seizures (request all in this section ☐)6.13.1 Ever had atonic seizures ☐ 6.13.7 Number of seizures within

timeframe ☐


triggers☐





Focal Seizures (request all in this section ☐)6.14.1 Ever had focal seizures ☐ 6.14.7 Number of seizures within

timeframe ☐


triggers☐


Spasms (request all in this section ☐)6.15.1 Ever had spasms ☐ 6.15.7 Number of seizures within

timeframe ☐


triggers☐


Unknown/ Undiagnosed Seizures (request all in this section ☐)6.16.1 Ever had unknown/ undiagnosed


timeframe ☐


triggers☐


Convulsive Status Seizures (request all in this section ☐)6.17.1 Ever had convulsive status seizures ☐ 6.17.7 Number of seizures within

timeframe ☐


triggers☐





Non Convulsive Status Seizures (request all in this section ☐)6.18.1 Ever had non convulsive status


timeframe ☐


triggers☐


Module 7: Medications and Interventions (request all in this module ☐)Generalised Seizures (request all in this section ☐)7.1.1 Current weight at the time of

completing this module in kg☐ 7.1.2 Current weight at the time of

completing this module in lb☐

Current Medications and Interventions (request all in this section ☐)7.2.1 Current medications and

interventions☐ 7.2.6 Daily dose in units ☐

7.2.2 Other medications/ interventions ☐ 7.2.7 Frequency medication given ☐7.2.3 Reason for using drug/ intervention ☐ 7.2.8 Strength/ concentration ☐7.2.4 Age when medication started (years)

☐ 7.2.9 Other comments about medication ☐

7.2.5 Age when medications started (in months)

☐

Medications and Interventions no longer used (request all in this section ☐)7.3.1 Medications and interventions no

longer used☐ 7.3.5 Age when medications stopped

(years)☐

7.3.2 Other medications/ interventions ☐ 7.3.6 Age when medications stopped (in months)

☐

7.3.3 Reason for using drug/ intervention ☐ 7.3.7 Other comments about stopping medication

☐

7.3.4 Reason for stopping drug/ intervention

☐



Module 7: Medications and Interventions (continued)

Current Medications and Interventions (request all in this section ☐)7.2.1 Current medications and

interventions as a part of clinical trials

☐ 7.2.6 Daily dose in units ☐

7.2.2 Other clinical trial medications/ interventions

☐ 7.2.7 Frequency medication given ☐

7.2.3 Reason for using drug/ intervention ☐ 7.2.8 Strength/ concentration ☐7.2.4 Age when medication started (years)

☐ 7.2.9 Reason for stopping drug/ intervention

☐

7.2.5 Age when medications started (in months)

☐ 7.4.10 Other comments about medication

☐

Therapy Services (request all in this section ☐)7.5.1 Current therapy services ☐ 7.2.5 Frequency service attended ☐7.5.2 Other therapy services ☐ 7.2.6 Length of typical session ☐7.5.3 Age when service started (years) ☐ 7.2.7 Other comments about therapy

services☐

7.5.4 Age when service started (in months)

☐

Module 8: General Sleeping (request all in this module ☐)Current Medications and Interventions (request all in this section ☐)8.1.1 Rating of individual with Angelman

Syndrome’s sleep on a scale of 1-10☐ 8.1.6 Difficulty going to sleep on own ☐

8.1.2 Age at which individual first slept through night (years)

☐ 8.1.7 Waking during the night ☐

8.1.3 Age at which individual first slept through night (months)

☐ 8.1.8 Early morning waking ☐

8.1.4 Regularity of sleeping pattern ☐ 8.1.9 Parent/ caregiver required to go to sleep

☐

8.1.5 Description of irregular sleeping pattern

☐

Sleep Diary (request all in this section ☐) Seven Day Sleep DiaryD1 D2 D3 D4 D5 D6 D7

8.2.1 Day of the week ☐ ☐ ☐ ☐ ☐ ☐ ☐8.2.2 Time to bed ☐ ☐ ☐ ☐ ☐ ☐ ☐8.2.3 Time to sleep ☐ ☐ ☐ ☐ ☐ ☐ ☐8.2.4 Number of times they woke ☐ ☐ ☐ ☐ ☐ ☐ ☐8.2.5 Longest time awake during the night (in

minutes) e.g 10 mins☐ ☐ ☐ ☐ ☐ ☐ ☐

8.2.6 Wake up time ☐ ☐ ☐ ☐ ☐ ☐ ☐8.2.7 Daytime naps number ☐ ☐ ☐ ☐ ☐ ☐ ☐8. 2.8 Duration of daytime naps (minutes) ☐ ☐ ☐ ☐ ☐ ☐ ☐



Module 9. The Sleep Disturbance Scale for Children (request all in this module ☐)

The Sleep Disturbance Scale for Children (request all in this section ☐)9.1.1 How many hours of sleep does your

child have per night?☐ 9.1.18 You have seen your child

verbalising in his/her sleep☐

9.1.2 How long after going to bed does your child usually fall asleep?

☐ 9.1.19 Your child grinds his/her teeth during sleep

☐

9.1.3 Your child does not like going to bed ☐ 9.1.20 Your child sometimes wakes from sleep screaming or confused so that you cannot seem to get through to him/her, but has no memory of these events the next morning

☐

9.1.4 Your child has difficulty in getting to sleep at night

☐ 9.1.21 Your child has nightmares which he/she can’t remember the next day

☐

9.1.5 Your child feels anxious or afraid when falling asleep

☐ 9.1.22 Your child is hard to wake up in the morning

☐

9.1.6 Your child startles or jerks parts of the body while falling asleep

☐ 9.1.23 Your child wakes up in the morning feeling tired

☐

9.1.7 Your child shows repetitive actions such as rocking or head banging while falling asleep

☐ 9.1.24 Your child sometimes feels unable to move when waking up in the morning

☐

9.1.8 Your child has very strange dreams while falling asleep

☐ 9.1.25 Your child is tired during the day ☐

9.1.9 Your child sweats a lot while falling asleep

☐ 9.1.26 Your child falls asleep suddenly in unusual situations

☐

9.1.10 Your child wakes up more than twice per night

☐ 9.1.27 Disorders of initiating and maintaining sleep Sum of items 1,2,3,4,5,10,11

☐

9.1.11 After waking up in the night, your child has trouble falling asleep again

☐ 9.1.28 Sleep Breathing Disorders Sum of items 13,14,15

☐

9.1.12 Your child has twitching or jerking of the legs during sleep or often changes position during the night or kicks the covers off the bed

☐ 9.1.29 Disorders of arousal Sum of items 17,20,21

☐

9.1.13 Your child has trouble breathing during the night

☐ 9.1.30 Sleep-Wake Transition Disorders Sum of items 6,7,8,12,18,19

☐

9.1.14 Your child gasps for breath or is unable to breathe during sleep

☐ 9.1.31 Disorders of excessive somnolence (increased sleepiness) Sum of items 22,23,24,25,26

☐

9.1.15 Your child snores ☐ 9.1.32 Sleep Hyperhydrosis (sweating in sleep) Sum of items 9,16

☐

9.1.16 Your child sweats a lot during the night

☐ 9.1.33 Total score Sum of factor scores ☐

9.1.17 You have seen your child sleep walking

☐



Data requestor/ investigator responsibilities

1. You must take reasonable steps to protect the registry participants’ personal information against security breaches or loss of information, and preserve the confidentiality of participants in any form of presentation or publication of data. It is requested that that data cells with fewer than five (5) participants be further aggregated or not published in line with the Guidelines for the Use and Disclosure of Health Data for Statistical Purposes.

2. You must acknowledge the Global Angelman Syndrome Registry in all presentations and publications involving the use of the data by including the following text:

The authors gratefully acknowledge the Global Angelman Syndrome Patient Registry team for the use of Patient Registry data to conduct this research. In addition, we would like to thank the patients, parents and caregivers, and clinicians for their involvement in the Global Angelman Syndrome Patient Registry.

3. You must report all posters, presentations, abstracts, manuscripts and reports to the data curator, and provide a pdf copy for the Global Angelman Syndrome Registry for the bibliography and publication repository.

4. At the end of your project’s estimated timeframe, you must destroy or delete all data files, or advise the data curator that you wish to extend the project.

Project approval process:

Please submit this form with the signed confidentiality agreement to the data curator at [email protected]. The data curator will review your application and forward and advise you of any further action required prior to submission it to the Global Angelman Syndrome Registry Governance Committee. If no further action on your behalf is required, the data curator will forward your application directly to the Global Angelman Syndrome Registry Governance Committee and advise you of this. Committee reviews will take 4 to 8 weeks.

Application and confidentiality agreement:

The Global Angelman Syndrome Registry has a policy to protect parent, caregiver and patient personal information from unauthorised distribution and to ensure that data will only be used, shared, or stored in line with the Australian Federal Privacy Act and National Statement on Ethical Conduct in Humans. This is to provide the highest level of confidentiality for the parents, caregivers and patients in the Global Angelman Syndrome Registry. Potential patient identifiers such as postal/ zip codes will not be provided unless necessary for the project and approved by the Global Angelman Syndrome Registry Governance Committee. Your institution will also need to sign the application and confidentiality agreement. Data should never be shared or used for marketing purposes.

The data will be provided to you via a secure transfer with the agreement that you will use the Global Angelman Syndrome Registry data responsibly for the exact purpose you requested. You agree not to disclose or share any information without written permission of the Global Angelman Syndrome Registry Governance Committee. You must provide evidence of ethical approval prior to


mailto:[email protected]


data release. Once you complete your data analysis, you must destroy all data files. The Global Angelman Sydrome Registry must be advised of any publications and receive acknowledgement for provision of the data.

Acknowledgements

The Institution agrees to the terms of this Confidentiality Agreement and Data Application to be effective as of the date of the Institution’s signature by an authorised representative. Please direct any questions to [email protected] regarding this agreement or application process.

Institution:

Authorised Representative name/ title:

Signature:

Date:

The principal investigator has read and agreed to comply with the conditions in the Application for Level 3 Access to the Global Angelman Syndrome Registry and Confidentiality Agreement from the Global Angelman Syndrome Registry team, but not as a formal party:

Name/ Title:

Signature:

Date:


mailto:[email protected]

Documents

Web view5.6 Say at least one word ... Febrile Seizures (request all in this section ☐) 6.1.1 Ever had febrile seizures. 6.1.6 Seizure frequency when individual