Request access to data

The Global Angelman Syndrome Registry is a project designed for individuals diagnosed with Angelman syndrome and empower those working towards research and treatments.

You’re welcome to request access to our data. Simply complete the form below and our curation team will be in touch with the relevant data.

Name
First Last
Name (with title)*
Affiliation/Company/Institution*
Job Title*
Email*
Phone
Address
Mailing Address*
Project sponsor (if applicable)
Please select modules that you would like access to:
- Module 1 - Newborn and infancy history
- Module 2 - History of diagnosis and results
- Module 4 – Medical History
- Module 6 – Epilepsy
- Module 7: Medications, Interventions and Therapies
- Module 11 Clinical Trials and Studies
- Module 2.5 - 6 Month Check Up
- Module 3 – Illnesses or Medical Problems
- Module 4.5 – Communication
- Module 5 – Behaviour and Development
- Module 8 – Sleep
- Module 10a: Change in Seizure Activity
- Module 10b: New Hospitalisations or Surgical Procedures
- Module 10c: New Medication or Changed Dose
- Module 10d: Stopped Medication
- Module 10e: New Therapy Service or Changed Frequency or Duration
- Module 10f: Stopped Therapy Service
- Module 10g: Clinical Trials
- Module 10h: Clinic Visit
- Module 10i: Pathology and Diagnostics
Module 1 - Newborn and infancy history
Module Option
- I want all data in this module
- I want specific data in this module
1.1 Did the child reside with you in:
The first 1-12 months of their life?
- Yes
- No
1.1 Newborn (0-1 month)
Describe feeding during infancy
- Breastfed
- Bottlefed
- Other
At what age was breastfeeding stopped?
Years Months
At what age was bottlefeeding stopped?
Years Months
Does/did the individual with Angelman Syndrome experience feeding difficulties as a newborn?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
If difficulties were experienced, was assistance used at any time in their infancy (e.g. lactation support, syringes, spooning in pumped milk)? Please note that there is an option to provide more details below
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
If the individual was unable to breast or bottle feed, please describe how he/she is/was fed as a newborn.
Is/was there refusal to nurse?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Can/could not latch?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Ineffective suck?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Was there biting?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Does/did he/she appear irritable in association with feeding?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
1.2 Newborn (0-1 month): Health and Behavioural
Was there vomiting?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Was there arching?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Does/did he/she show excessive movements?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Does/did the individual with Angelman Syndrome have difficulties maintaining or regulating proper body temperature?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Was there difficulty sleeping?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Please describe your child’s crying
- Excessive/ constant
- Rarely or never cried
- Unusual sounding cry
Were there any behavioural or developmental concerns? (check any/ all that apply)
- Excessive irritability
- Developmental delays
- Unusual or repetitive movements
- Unusual or repetitive behaviours
- Smiling/ Laughter
- Did not communicate needs (eg cry when hungry)
- Did not respond/ seem interested in caregiver/ people
- Did not seem interested in surroundings
- Other
Please specify
Were there any other health problems? (check any/ all that apply)
- Gastrointestinal problems/ reflux
- Failure to thrive; Intolerances or allergies
- Breathing/ respiratory difficulties
- Seizures
- Vision/ Eye problem
- Illness requiring medical care
- Other
Please describe
1.3 Infancy (1-12 months): Temperament
Is/was the individual with Angelman Syndrome happy in the first 12 months of their life?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Is/was he/she placid in the first 12 months of their life?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Is/was he/she easy going in the first 12 months of their life?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Is/was he/she affectionate in the first 12 months of their life?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
1.4 Infancy (1-12 months): Feeding
Are/were there any difficulties with suck/swallow?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Are/were there any difficulties with failure to gain weight?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Are/were there any reflux/gastro/oesophageal problems?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Are/were there any difficulties with transitioning to solid food?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
1.5 Infancy (1-12 months): Respiratory
Are/were there any difficulties with asthma/wheezing?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Are/were there any difficulties with coughing?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Are/were there any difficulties with pneumonia?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Are/were there any difficulties with bronchitis?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
1.6 Infancy (1-12 months): Other Health and Behavioural
Was there difficulty sleeping?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Please describe your child’s crying
- Excessive/ constant
- Rarely or never cried
- Unusual sounding cry
Were there any behavioural or developmental concerns? (check any/ all that apply)
- Excessive irritability
- Developmental delays
- Unusual or repetitive movements
- Unusual or repetitive behaviours
- Smiling/ Laughter
- Did not communicate needs (eg cry when hungry)
- Did not respond/ seem interested in caregiver/ people
- Did not seem interested in surroundings
- Other
Are/were there any other behavioural issues during this period?
Were there any other health problems? (check any/ all that apply)
- Gastrointestinal problems/ reflux
- Failure to thrive; Intolerances or allergies
- Breathing/ respiratory difficulties
- Seizures
- Vision/ Eye problem
- Illness requiring medical care
- Other
Please describe
Module 2 - History of diagnosis and results

To add a new Patient Result File, please click the 'Choose File' button. To add more than one Patient Result File, please click the blue 'Add' button. Once you have selected your files, click the green 'Save' buttons to upload. If you wish to delete a Diagnosis results file, please check the 'mark for deletion' box and click the 'Save and complete later' button.
Module Option
- I want all data in this module
- I want specific data in this module
2.1 History of Diagnosis
Age at diagnosis
Years Months
Current age of the individual with Angelman Syndrome in years (years)
Did you suspect Angelman syndrome prior to the official diagnosis?
- Yes
- No
- Unknown
Who made the diagnosis?
- Paediatrician
- Neuropaediatrician
- Neurologist
- Geneticist
- Other
Please specify
History that led to the Angelman Syndrome Diagnosis
(Check all that apply)
- Microcephaly
- Developmental delay
- Motor development
- Unusual behaviours
- Lack of language
- Abnormal neurological exam
- Seizures
- Ataxia
- Happy disposition/ laughter
- Light pigmentation (e.g, hair, eyes, skin)
- Eye/ vision problems
- Gastrointestinal reflux
- Failure to thrive; 14 – Hypotonia (Low muscle tone)
- Illness/ injury requiring medical care led to diagnosis
- Other
Please give details
If there was a misdiagnosis prior to Angelman syndrome, please select:
(Check all that apply)
- Autism
- Seizure Disorder
- Cerebral Palsy
- Global Development Delay
- Prader-Willi Syndrome
- Other
- Unknown
Please comment
Do they currently have a dual diagnosis?
- Yes
- No
- Unknown
Please list any other current diagnoses the individual has received
- Autism Spectrum Disorder
- Epilepsy
- Lennox-Gastaut syndrome
- Cerebral Palsy
- Global developmental delay
- Other rare disease
- Other, please specify
Please list other diagnoses
2.2 Individual with Angelman Syndrome Results
Has the individual with Angelman Syndrome had a genetic test for Angelman Syndrome?
- Yes
- No
- Unknown
Have they received a clinical diagnosis of Angelman Syndrome?
- Yes
- No
- Unknown
Do you know what type of tests were performed
- Yes
- No
What type of test was performed?
(Check all that apply)
- Array
- Methylation
- Mutation
- FISH
What was the test result?
- Chromosome deletion (Class Unknown)
- Chromosome deletion Class 1
- Chromosome deletion Class II
- Chromosome deletion Class III
- Chromosome deletion Class IV
- Chromosome deletion Class V
- Paternal uniparental disomy (UPD)
- Imprinting centre defect
- UBE3A Mutation (type unknown)
- UBE3A Mutation (Truncating)
- UBE3A Mutation (Missense)
- UBE3A Mutation (nonsense)
- UBE3A Mutation (Benign)
- Mosaic
- Unknown
2.3 Individual with Angelman Syndrome Result Files
Please upload any diagnosis test results you have?
Drop files here or
Module 4 - Medical History

Instructions: To add a new Hospitalisation or Surgery, please click the 'Add' button. If you wish to delete a Hospitalisation or Surgery, please check the 'mark for deletion' box and click the 'Save and complete later' button.
Module Option
- I want all data in this module
- I want specific data in this module
4.3 Hospitalisations and Surgical Procedures
Has your child/ adult ever been hospitalised?
- Yes
- No
- Unknown
Has your child/ adult had any surgical procedures?
- Yes
- No
- Unknown
Please indicate the number of surgeries
(Please indicate approximate number of surgeries if actual number is unknown)
Has your child/ adult ever undergone anaesthesia?
- Yes
- No
- Unknown
Please indicate the number of anaesthesias
- None
- One only
- 2-5
- 5-10
- More than 10
4.4 Details of Hospitalisation/Surgery
Child/ adult's age at admission
Years Months
Hospitalisation reason
- Seizure
- Feeding problems
- Surgery
- Infection
- Other
If surgery, what was the reason?
(e.g. Corrective alignment (toe walking, scoliosis), strabismus
If other, what was the reason?
4.4.8 Number of days in hospital
Level of care
- Low (medical ward)
- Medium (high dependency unit)
- High (Intensive care)
- Emergency department
Module 6 - Epilepsy

We’d like to collect more information on your child/adult with Angelman Syndrome’s seizures. If you are able to complete this section, please do so.
Otherwise, we would be glad to contact your child/adult’s clinician on your behalf if you have provided consent to do this. If the individual has never experienced seizure activity you can move to the next module: Medications and Interventions
If you require more information, please visit the following website: http://www.ilae.org/
Module Option
- I want all data in this module
- I want specific data in this module
6.0 Seizure History
Has your child/ adult ever experienced any seizures?
- Yes
- No
What is your child/ adult's current seizure status?
- Controlled without medication
- Controlled with medication
- Controlled with diet
- Mostly controlled with occasional breakthroughs
- Uncontrolled with medication
- Uncontrolled without medication
- Unknown
What do you feel is the source of breakthrough seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
What age was the first observed seizure activity?
What type of seizure was it?
- Absence Seizures (“Petit Mal Seizures”)
- Myoclonic seizures
- Atonic Seizures (“Drop Attacks”)
- Tonic, Clonic and Tonic-Clonic (Formerly called Grand Mal) Seizures
- Unknown/unaware of type
What do you think triggered the seizure?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Was medication given?
- Yes – please report in the medications and interventions module
- No
Was hospitalisation required?
- Yes – please report in the medications and interventions module
- No
Was ongoing medication prescribed at this stage?
- Yes – please report in the medications and interventions module
- No
6.1 Has your child/ adult ever had any of the following seizure types?
Atonic Seizures?
- Yes
- No
- Unknown
Age of onset
Years Months
Is your child/ adult currently free from atonic seizures?
- Yes
- No
- Unknown
Has your child/ adult experienced freedom or recurrences of atonic seizures in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for atonic seizures?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for atonic seizures?
- Yes – please report in the medications and interventions module
- No
Please comment on any other details about their atonic seizures
(eg significant seizure events/ changes)
Tonic, Clonic or Tonic-Clonic seizures?
- Yes
- No
- Unknown
Was it focal or generalised?
- Focal
- Generalised
- Unknown
Has your child/ adult experienced freedom or recurrences of Tonic, Clonic or Tonic-Clonic seizures in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for Tonic, Clonic or Tonic-Clonic seizures?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for Tonic, Clonic or Tonic-Clonic seizures?
- Yes – please report in the medications and interventions module
- No
Please comment on any other details about their Tonic, Clonic or Tonic-Clonic seizures
(eg significant seizure events/ changes)
Please comment on any other details about their Tonic, Clonic or Tonic-Clonic seizures
(eg significant seizure events/ changes)
Myoclonic seizures?
- Yes
- No
- Unknown
Age of onset
Is your child/ adult currently free from Myoclonic seizures seizures?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of Myoclonic seizures in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please describe
Ever been hospitalised for Myoclonic seizures?
- Yes – please report in the medical history and hospitalisations module
- No
Please comment on any other details about their Myoclonic seizures
(eg significant seizure events/ changes)
Cluster motor seizures?
- Yes
- No
- Unknown
Is your child/ adult currently free from Cluster motor seizures?
- Yes
- No
Age of onset
Has your child/ adult experienced freedom or recurrences of Cluster motor seizures in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for Cluster motor seizures?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for Cluster motor seizures?
- Yes – please report in the medical history and hospitalisations module
- No
Please comment on any other details about their Cluster motor seizures
(eg significant seizure events/ changes)
Absence seizures?
- Yes
- No
- Unknown
Age of onset
Is your child/ adult currently free from Absence seizures?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of Absence seizures in the past?
- Yes
- No
Please describe
How often do/did seizures occur
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for Absence seizures?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for Absence seizures?
- Yes – please report in the medical history and hospitalisations module
- No
Please comment on any other details about their Absence seizures
(eg significant seizure events/ changes)
Cluster non-motor seizures?
- Yes
- No
- Unknown
Age of onset
Is your child/ adult currently free from Cluster non-motor seizures?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of Cluster non-motor seizures in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been hospitalised for Cluster non-motor seizures?
- Yes – please report in the medical history and hospitalisations module
- No
Please comment on any other details about their Cluster non-motor seizures
(eg significant seizure events/ changes)
Epileptic spasms?
- Yes
- No
- Unknown
Age of onset
Is your child/ adult currently free from epileptic spasms?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of epileptic spasms in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please describe
Ever been medicated for epileptic spasms?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for epileptic spasms?
- Yes – please report in the medications and interventions module
- No
Please comment on any other details about their epileptic spasms?
(eg significant seizure events/ changes)
Convulsive status epilepticus?
- Yes
- No
- Unknown
Was it focal or generalised?
- Focal
- Generalised
- Unknown
Age of onset
Is your child/ adult currently free from Convulsive status epilepticus?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of Convulsive status epilepticus in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for Convulsive status epilepticus?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for Convulsive status epilepticus?
- Yes – please report in the medical history and hospitalisations module
- No
Please comment on any other details about their Convulsive status epilepticus?
(eg significant seizure events/ changes)
Non-convulsive status epilepticus?
- Yes
- No
- Unknown
Age of onset
Is your child/ adult currently free from Non-convulsive status epilepticus?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of Non-convulsive status epilepticus in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for Non-convulsive status epilepticus?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for Non-convulsive status epilepticus?
- Yes – please report in the medications and interventions module
- No
Please comment on any other details about their Non-convulsive status epilepticus
(eg significant seizure events/ changes)
Unknown/ unaware?
- Yes
- No
- Unknown
Age of onset
Is your child/ adult currently free from unknown/ unaware?
- Yes
- No
Has your child/ adult experienced freedom or recurrences of unknown/ unaware in the past?
- Yes
- No
Please describe
How often do/did seizures occur?
- Daily
- Weekly
- Monthly
- Yearly
- Rarely (less than once a year)
How many seizures do they typically have in this time frame?
- Less than 5
- 5-10
- 10-20
- 20-50
- More than 50
What events, if any, trigger their seizures?
- Illness/infection without fever
- Illness/infection with fever
- Co-medication/drug interaction
- Tiredness/ fatigue
- Emotions or overstimulation, e.g. stress, anxiety, or excitement
- Hot weather, overheating or dehydration
- Hormonal
- Other
- Unknown
Please specify
Ever been medicated for unknown/ unaware?
- Yes – please report in the medications and interventions module
- No
Ever been hospitalised for unknown/ unawaye seizures?
- Yes – please report in the medical history and hospitalisations module
- No
Please comment on any other details about their unknown/ unaware seizures
(eg significant seizure events/ changes)
Module 7 - Medications, Interventions and Therapies

We’d like to collect more information on your child/adult with Angelman syndrome’s current and past medications, as well as current and past therapies. Please record interventions your child/adult is taking as part of a clinical trial in Module 11: Clinical Trials and Studies. If you are able to complete this section, please do so.
Module Option
- I want all data in this module
- I want specific data in this module
7.1a Medications/ Interventions and Therapy Use
Is your child/ adult currently taking any medications/ interventions?
- Yes
- No
- Unknown
Has your child/ adult tried any medications/ interventions that they are no longer using?
- Yes
- No
- Unknown
Has your child/ adult ever taken part in any therapies?
- Yes
- No
- Unknown
7.2 Current medications/interventions
Please tell us what medications/interventions your child/ adult is currently taking
- Cabamazepine (Tegretol)
- Clobazam (Frisium, Onfi)
- Clonozepam (Rivotril)
- Ethosuximide (Zarontin)
- Folate (Folic acid)
- Lamotrigine (Lamictal, Lamogine)
- Levetiracetam (Keppra)
- Oxcarbazepine (Trileptal)
- Phenobarbintone aspen (Dilantin)
- Sodium valproate (Epilim)
- Topiramate (Topamax)
- Aripiprazole (Abilify)
- Methylphenidate (Ritalin)
- Risperidone (Risperdal)
- Efalex (Efamol)
- Evening primrose oil (Efamol)
- Amitriptyline (Endep)
- Diazepam (Valium)
- Melatonin (Circadin)
- Midazolam (Versed)
- Nitrazepam (Mogadon)
- Phenobarbital (Phenobarb)
- Promethazine (Phenergan)
- Trimeprazine tartrate (Vallergan forte)
- Lactulose (Actilax, Dulose)
- Ommeprazole (Losec, Acimax, Maxor)
- Ondansetron (Zofran)
- Macrogol (Osmolax)
- Probiotic (Cytopro)
- Psyllium (Metamucil)
- Baclofen (Lioresal, Gablofen)
- Benzatropine (Benztrop)
- Calcium (Caltrate)
- Celepram (Citalopram)
- Cephalexin (Keflex)
- Clonidine (Diaformin)
- Cyproheptadine (Periactin)
- Fluticasone (Flixotide)
- Hexamine hipp (hiprex)
- Minocycline (Akamin, Minomycin)
- Mometasone (Nasonex)
- Montelukast (Singulair)
- Netformin (Diaformin)
- Oxybutynin (Ditropan)
- Pantoprazole (Somac)
- Miralax /polyethylene glycol
- Lactulose
- Dulcolax/Bisacodyl
- Benefiber/Metamucil or other fiber laxative
- Cannabis or cannabinoid
- Ketogenic diet
- LGIT diet
- Other diet (please specify)
- Vagus Nerve Stimulation (VNS)
If medication is not listed above, please state
What is the reason for using this drug/intervention?
Check all that apply
- Anti epileptic
- Behavioural
- Sleep
- Gastrointestinal
- Complimentary
- Diet
- Vagus nerve stimulation
- Other
Other reason
What was your child/ adult's age when medication/ intervention was started?
Years Months
How often is this medication given?
- Once a day
- Twice a day
- 3 times a day
- 4 times a day
- 5 times a day
- 6 times a day
- As needed
Is the same dose given each time?
- Yes
- No
Dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Dosage unit. Please indicate the dosage unit
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time 1
Please indicate what time this medication/ intervention is given

HH :

MM
Time 1 dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Time 1 dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time 2
Please indicate what time this medication/ intervention is given

HH :

MM
Time 2 dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Time 2 dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time 3
Please indicate what time this medication/ intervention is given

HH :

MM
Time 3 dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Time 3 dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time 4
Please indicate what time this medication/ intervention is given

HH :

MM
Time 4 dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Time 4 dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time 5
Please indicate what time this medication/ intervention is given

HH :

MM
Time 5 dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Time 5 dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time 6
Please indicate what time this medication/ intervention is given

HH :

MM
Time 6 dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Time 6 dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Medication time other
Please indicate what time this medication/ intervention is given

HH :

MM
Other time dosage (as a number)
Please indicate units of dosage as a number(e.g. 100, 2.5)
Other time dosage unit.
- Grams (g)
- Milligrams (mg)
- Micrograms (mcg)
- Grams per millilitre (g/ml)
- Milligrams per millilitre (mg/ml)
- Micrograms per millilitre (mcg/ml)
- Millilitres (ml)
- Other
Please specify If other, please specify
Comments
7.3 Medications/Interventions no longer used
What medications has the individual with Angelman Syndrome tried and is no longer using?
- Cabamazepine (Tegretol)
- Clobazam (Frisium, Onfi)
- Clonozepam (Rivotril)
- Ethosuximide (Zarontin)
- Folate (Folic acid)
- Lamotrigine (Lamictal, Lamogine)
- Levetiracetam (Keppra)
- Oxcarbazepine (Trileptal)
- Phenobarbintone aspen (Dilantin)
- Sodium valproate (Epilim)
- Topiramate (Topamax)
- Aripiprazole (Abilify)
- Methylphenidate (Ritalin)
- Risperidone (Risperdal)
- Efalex (Efamol)
- Evening primrose oil (Efamol)
- Amitriptyline (Endep)
- Diazepam (Valium)
- Melatonin (Circadin)
- Midazolam (Versed)
- Nitrazepam (Mogadon)
- Phenobarbital (Phenobarb)
- Promethazine (Phenergan)
- Trimeprazine tartrate (Vallergan forte)
- Lactulose (Actilax, Dulose)
- Ommeprazole (Losec, Acimax, Maxor)
- Ondansetron (Zofran)
- Macrogol (Osmolax)
- Probiotic (Cytopro)
- Psyllium (Metamucil)
- Baclofen (Lioresal, Gablofen)
- Benzatropine (Benztrop)
- Calcium (Caltrate)
- Celepram (Citalopram)
- Cephalexin (Keflex)
- Clonidine (Diaformin)
- Cyproheptadine (Periactin)
- Fluticasone (Flixotide)
- Hexamine hipp (hiprex)
- Minocycline (Akamin, Minomycin)
- Mometasone (Nasonex)
- Montelukast (Singulair)
- Netformin (Diaformin)
- Oxybutynin (Ditropan)
- Pantoprazole (Somac)
- Miralax /polyethylene glycol
- Lactulose
- Dulcolax/Bisacodyl
- Benefiber/Metamucil or other fiber laxative
- Cannabis or cannabinoid
- Ketogenic diet
- LGIT diet
- Other diet (please specify)
- Vagus Nerve Stimulation (VNS)
If medication is not listed above, please state
What was the reason for using this drug/intervention?
(Check all that apply)
- Anti epileptic
- Behavioural
- Sleep
- Gastrointestinal
- Complimentary
- Diet
- Vagus nerve stimulation
- Other
Other reason
What was the reason for stopping this drug/intervention?
- Exacerbation/worsening of seizures
- intolerable side effects (please describe)
- inadequate seizure control
- transferring to a new medication
- No longer required
- Other
Please describe
What was their age when the medication/intervention was stopped?
Years Months
Comments
7.5 Therapy Services
Please tell us which therapy services your child/adult with Angelman syndrome has participated in
(either current or no longer undertaken)
- Physical therapy/ exercise
- Speech and language therapy
- Augmentative and Alternative Communication (AAC)
- Occupational therapy
- Physiotherapy
- Hippotherapy
- Hydro/aquatic therapy
- Music therapy
- Art therapy
- Pet therapy
- Behavioural therapy
- Adaptive sports
- Play therapy
- Chiropractic
- Diet/ dietetic
- Massage
- Other
If the service is not listed above, please state
Have you participated in a short or intensive course about delivering therapies to your child/ adult?
(either current or no longer undertaken)
- Physical therapy/ exercise
- Speech and language therapy
- Augmentative and Alternative Communication (AAC)
- Occupational therapy
- Physiotherapy
- Hippotherapy
- Hydro/aquatic therapy
- Music therapy
- Art therapy
- Pet therapy
- Behavioural therapy
- Adaptive sports
- Play therapy
- Chiropractic
- Diet/ dietetic
- Massage
- Other
Please specify
Is your child/ adult currently participating in physical therapy?
- Yes
- No
Has your child/ adult started and stopped physical therapy?
- Yes
- No
Please specify
At what age did they start physical therapy?
Years Months
At what age did they stop physical therapy?
Years Months
How frequently do they attend this service?
- Daily
- 3-5 times per week
- Twice a week
- Once a week
- Twice a month (fortnightly)
- Once a month
- Once every 2-3 months (4-6 times per year)
- Once every 4-6 months (2-3 times per year)
- Once a year
- Less than once a year or one off session
- Other
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in speech and language therapy?
- Yes
- No
Has your child/ adult started and stopped speech and language therapy?
- Yes
- No
Please describe
At what age did they start speech and language therapy?
Years Months
At what age did they stop speech and language therapy?
Years Months
How frequently do they attend this service?
Years Months
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in Augmentative and Alternative Communication (AAC) therapy?
- Yes
- No
Has your child/ adult started and stopped AAC therapy?
- Yes
- No
Please describe
At what age did they start Augmentative and Alternative Communication (AAC) therapy?
Years Months
At what age did they stop AAC therapy?
Years Months
How frequently do they attend this service?
Years Months
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in occupational therapy?
- Yes
- No
Has your child/ adult started and stopped occupational therapy?
- Yes
- No
Please describe
At what age did they start occupational therapy?
Years Months
At what age did they stop occupational therapy?
Years Months
How frequently do they attend this service?
Years Months
Please specify
How frequently did they attend this service?
Please specify
How long was a typical session?
(in minutes) E.g. 60 minutes
How long is a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in physiotherapy?
- Yes
- No
Has your child/ adult started and stopped physiotherapy?
- Yes
- No
Please describe
At what age did they start physiotherapy?
Years Months
At what age did they stop physiotherapy?
Years Months
How frequently do they attend this service?
Years Months
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in hippotherapy?
- Yes
- No
Has your child/ adult started and stopped hippotherapy?
- Yes
- No
Please describe
At what age did they start hippotherapy?
Years Months
At what age did they stop hippotherapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in hydro/aquatic therapy?
- Yes
- No
Has your child/ adult started and stopped hydro/aquatic therapy?
- Yes
- No
Please describe
At what age did they start hydro/aquatic therapy?
Years Months
At what age did they stop hydro/aquatic therapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in music therapy?
- Yes
- No
Has your child/ adult started and stopped music therapy?
- Yes
- No
Please describe
At what age did they start music therapy?
Years Months
At what age did they stop music therapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in art therapy?
- Yes
- No
Has your child/ adult started and stopped art therapy?
- Yes
- No
Please describe
At what age did they start art therapy?
Years Months
At what age did they stop art therapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in pet therapy?
- Yes
- No
Has your child/ adult started and stopped pet therapy?
- Yes
- No
Please describe
At what age did they start pet therapy?
Years Months
At what age did they stop pet therapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in behavioural therapy?
- Yes
- No
Has your child/ adult started and stopped behavioural therapy?
- Yes
- No
Please describe
At what age did they start behavioural therapy?
Years Months
At what age did they stop behavioural therapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in adaptive sports?
- Yes
- No
Has your child/ adult started and stopped adaptive sports?
- Yes
- No
Please describe
At what age did they start adaptive sports?
Years Months
At what age did they stop adaptive sports?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in play therapy?
- Yes
- No
Has your child/ adult started and stopped play therapy?
- Yes
- No
Please describe
At what age did they start play therapy?
Years Months
At what age did they stop play therapy?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in chiropractic treatment?
- Yes
- No
Has your child/ adult started and stopped chiropractic treatment?
- Yes
- No
Please describe
At what age did they start chiropractic treatment?
Years Months
At what age did they stop chiropractic treatment?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in treatment for their diet?
- Yes
- No
Has your child/ adult started and stopped treatment for their diet?
- Yes
- No
Please describe
At what age did they start treatment for their diet?
Years Months
At what age did they stop treatment for their diet?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in massage therapies?
- Yes
- No
Has your child/ adult started and stopped massage therapies?
- Yes
- No
Please describe
At what age did they start massage therapies?
Years Months
At what age did they stop massage therapies?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
Is your child/ adult currently participating in other therapies?
- Yes
- No
Has your child/ adult started and stopped other therapies?
- Yes
- No
Please describe
At what age did they start other therapies?
Years Months
At what age did they stop other therapies?
Years Months
How frequently do they attend this service?
Please specify
How frequently did they attend this service?
Please specify
How long is a typical session?
(in minutes) E.g. 60 minutes
How long was a typical session?
(in minutes) E.g. 60 minutes
What was the individual’s age (in years) when the service was started? (years)
Age in months
(if applicable) (months)
How frequently does the individual attend this service?
(e.g. Once a week)
How long is a typical session?
(e.g. one hour)
Comments
Module 11 - Clinical Trials and Studies
Module Option
- I want all data in this module
- I want specific data in this module
11.1 Clinics and Research Studies
Has your child/ adult ever been involved in any research studies or clinical trials?
- Yes
- No
Has your child/ adult ever attended an Angelman Syndrome clinic?
- Yes
- No
11.2 Study Participation
Name of study/ trial
- Natural History Trial 2011-2014
- Natural History Study 2018 onward
- Metfolin Trial (Dietary Supplements for the Treatment of Angelman Syndrome)
- Levodopa Trial
- Minocycline Trial (Minocycline in the Treatment of Angelman Syndrome) - University of South Florida, Tampa, FL (Ed Weeber);
- Minocycline Trial (Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome A-MANECE) – Puerta de Hierro University Hospital, Spain (Belen Ruiz-Antorán)
- Ovid Trial
- MRI trial - Baylor College of Medicine, Houston, TX (Sarika Peters)
- Ovid STARS Trial (A Study in Adults and Adolescents With Angelman Syndrome)
- MRI trial at UNC, Chapel Hill, NC (Heather Hazlett)
- Gait trial - University of South Florida, Tampa, FL (Joe Grieco)
- Lena device trial - University of South Florida, Tampa, FL (Ruth Bahr)
- Sleep trial (Kansas)
- Study on the Brain Network of Angelman Syndrome, Fudan University, China (Dr Yi Wang)
- Disruptive Nutrition FANS/ketone trial
- GeneTX KIK-AS trial
- Roche & Genetech FREESIAS Endpoint Study
- Roche Tangelo Clinical trial
- Other
Name of study/ trial
Are you still participating in other study/ trial?
- Yes
- No
Are you still participating in the Minocycline Trial (Minocycline in the Treatment of Angelman Syndrome)?
- Yes
- No
Are you still participating in the Minocycline Trial (Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome A-MANECE)?
- Yes
- No
Are you still participating in the MRI trial at Baylor College of Medicine?
- Yes
- No
Are you still participating in the MRI trial at UNC?
- Yes
- No
Are you still participating in the Gait trial at the University of South Florida?
- Yes
- No
Are you still participating in the Lena device trial at the University of South Florida?
- Yes
- No
Are you still participating in the Sleep trial at Kansas?
- Yes
- No
Are you still participating in the Disruptive Nutrition FANS/ketone trial?
- Yes
- No
Are you still participating in the GeneTX KIK-AS trial?
- Yes
- No
Are you still participating in the Roche & Genetech FREESIAS Endpoint Study?
- Yes
- No
Are you still participating in the Roche Tangelo Clinical trial?
- Yes
- No
Are you still participating in the Study on the Brain Network of Angelman Syndrome, Fudan University, China (Dr Yi Wang)
- Yes
- No
Which 2011-2014 Natural History Study site?
- Baylor-Texas Children's, Houston, TX.  (Carlos Bacino)
- Rady Children's Hospital, San Diego, CA (Lynne Bird)
- Children's Hospital, Boston, MA (Virginia Kimonis then Wen-Hann Tan)
- Greenwood Genetics Center, Greenwood, SC (Steve Skinner)
- UCSF, San Francisco, CA (Anne Slavotinek)
- Children's Hospital, Cincinnati, OH (Logan Wink)
- Vanderbilt Children's Hosptial, Nashville, TN (Greg Barnes, then Cary Fu)
Which 2018-current Natural History Study site?
- Rady Children's Hospital, San Diego, CA
- Children's Hospital, Boston
- Other
If other, please state
Are you still participating in the Folic Acid/Betaine Trial?
- Yes
- No
Which Folic Acid/Betaine Trial site?
- Baylor-Texas Children's, Houston, TX.  (Art Beaudet then Carlos Bacino)
- Rady Children's Hospital, San Diego, CA (Lynne Bird)
- Children's Hospital, Boston, MA (Wen-Hann Tan)
- Greenwood Genetics Center, Greenwood, SC (Steve Skinner)
Which Metafolin Trial (Dietary Supplements for the Treatment of Angelman Syndrome) site?
- Baylor-Texas Children's, Houston, TX.  (Carlos Bacino)
- Rady Children's Hospital, San Diego, CA (Lynne Bird)
- Children's Hospital, Boston, MA (Wen-Hann Tan)
- Greenwood Genetics Center, Greenwood, SC (Steve Skinner)
Are you still participating in the Metafolin Trial?
- Yes
- No
Which Levodopa Trial site?
- Baylor-Texas Children's, Houston, TX.  (Carlos Bacino)
- Rady Children's Hospital, San Diego, CA (Lynne Bird)
- Children's Hospital, Boston, MA (Wen-Hann Tan)
- Greenwood Genetics Center, Greenwood, SC (Steve Skinner)
- UCSF, San Francisco, CA (Anne Slavotinek)
- Children's Hospital, Cincinnati, OH (Logan Wink)
- Vanderbilt Children's Hospital, Nashville, TN (Greg Barnes, then Cary Fu)
Are you still participating in the Levodopa Trial?
- Yes
- No
Which Ovid Trial site?
- Baylor-Texas Children's, Houston, TX.  (Carlos Bacino)
- Rady Children's Hospital, San Diego, CA (Lynne Bird)
- Children's Hospital, Boston, MA (Wen-Hann Tan)
- Greenwood Genetics Center, Greenwood, SC (Steve Skinner)
- UCSF, San Francisco, CA (Anne Slavotinek)
- Children's Hospital, Cincinnati, OH (Logan Wink)
- Vanderbilt Children's Hospital, Nashville, TN (Greg Barnes, then Cary Fu)
Are you still participating in the Ovid Trial?
- Yes
- No
Which Ovid STARS Trial (A Study in Adults and Adolescents With Angelman Syndrome) Site?
- Arizona
- California
- Florida
- Georgia
- Illinois
- Massachusetts
- Ohio
- Pennsylvania
- South Carolina
- Tennessee
- Israel
Are you still participating in the Ovid STARS Trial?
- Yes
- No
11.3 Clinic attendance
Region where clinic(s) located
- United States of America
- Other North America
- South America
- Europe
- Asia
- Africa
- Oceania
Which clinic(s) in the United States of America?
- Seattle Children's Hospital (Seattle, Washington US)
- UCSF Benioff Children's Hospital (San Francisco, California US)
- UCLA CART Center for Autism Research and Treatment (Los Angeles, California US)
- Rady Children's Hospital San Diego (San Diego, California US)
- Intermountain Primary Children's Medical Center (Salt Lake City, Utah US)
- Children's Hospital Colorado (Aurora, Colorado US)
- Texas Children's Hospital (Houston, Texas US)
- Mayo Clinic (Rochester, Minnesota US)
- Minnesota Epilepsy Group (St. Paul, Minnesota US)
- Rush University Medical Center (Chicago, Illinois US)
- Lurie Children's Hospital Chicago (Chicago, Illinois US)
- Monroe Carell Jr. Children's Hospital (Nashville, Tennessee US)
- Geisinger Autism & Developmental Medicine Institute (Lewisburg, Pennsylvania US)
- NYU Langone Medical Center (New York, New York US)
- Weill Cornell Medical College of New York (New York, New York US)
- Massachusetts General Hospital (Boston, Massachusetts US)
- UNC Carolina Institute for Developmental Disabilities (Carrboro, North Carolina US)
- Miami Children's Hospital (Miami, Florida US)
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Are you still attending the Seattle Children's Hospital?
- Yes
- No
Are you still attending the UCSF Benioff Children's Hospital?
- Yes
- No
Are you still attending the UCLA CART Center for Autism Research and Treatment?
- Yes
- No
Are you still attending the Rady Children's Hospital San Diego?
- Yes
- No
Are you still attending the Intermountain Primary Children's Medical Center?
- Yes
- No
Are you still attending the Children's Hospital Colorado?
- Yes
- No
Are you still attending the Texas Children's Hospital?
- Yes
- No
Are you still attending the Mayo Clinic?
- Yes
- No
Are you still attending the Minnesota Epilepsy Group?
- Yes
- No
Are you still attending the Rush University Medical Center?
- Yes
- No
Are you still attending the Lurie Children's Hospital Chicago?
- Yes
- No
Are you still attending the Monroe Carell Jr Children's Hospital?
- Yes
- No
Are you still attending the Geisinger Autism & Developmental Medicine Institute?
- Yes
- No
Are you still attending the NYU Langone Medical Center?
- Yes
- No
Are you still attending the Weill Cornell Medical College of New York?
- Yes
- No
Are you still attending the Massachusetts General Hospital?
- Yes
- No
Are you still attending the UNC Carolina Institute for Developmental Disabilities?
- Yes
- No
Are you still attending the Miami Children's Hospital?
- Yes
- No
Which clinic(s) in other North American countries?
- Children's Hospital of Eastern Ontario (Ottowa, Canada)
- BC Children's Hospital
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Are you still attending the Children's Hospital of Eastern Ontario (Ottowa, Canada)
- Yes
- No
Are you still attending the BC Children's Hospital
- Yes
- No
Which clinic(s) in South America?
- Brazil Angelman Clinic
- Argentina Angelman Syndrome Clinic
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Are you still attending the Brazil Angelman Clinic
- Yes
- No
Are you still attending the Argentina Angelman Syndrome Clinic
- Yes
- No
Which clinic(s) in Europe?
- Erasmus Angelman Syndrome Center, Rotterdam, The Netherlands
- St Mary’s Hospital, Manchester, UK
- Edmond and Lily Safra Children's Hospital, Sheba Tel Hashomer (Tel Aviv, Israel)
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Are you still attending the Erasmus Angelman Syndrome Center, Rotterdam, The Netherlands
- Yes
- No
Are you still attending the St Mary’s Hospital, Manchester, UK
- Yes
- No
Which clinic(s) in Asia?
- Edmond and Lily Safra Children's Hospital, Sheba Tel Hashomer (Tel Aviv, Israel)
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Which clinic(s) in Africa?
- Edmond and Lily Safra Children's Hospital, Sheba Tel Hashomer (Tel Aviv, Israel)
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Are you still attending the Edmond and Lily Safra Children's Hospital?
- Yes
- No
Which clinic(s) in Oceania?
- Melbourne Royal Children’s Hospital Clinic
- Development Assessment Service, St George Hospital, Kogarah, NSW
- Other
Name and location
Are you still attending this clinic?
- Yes
- No
Are you still attending the Melbourne Royal Children’s Hospital Clinic?
- Yes
- No
Are you still attending the Development Assessment Service, St George Hospital?
- Yes
- No
Module 2.5 – 6 Month Check Up

Instructions: Please report on changes to your child’s health and treatment in the last 6 months, and record any details the forms “My Child/ Adult’s Treatment” (bottom left corner).
Module Option
- I want all data in this module
- I want specific data in this module
Please enter your child/ adult’s current age, height and weight
Age in years and months
Years Months
Height in cm:
Weight in kg:
In the past 6 months has there been any changes in your child/ adult’s
Epilepsy
- Yes – please report changes in “My Child/ Adult’s Treatment – Change in seizure activity”
- No
How have your child/ adult’s seizures changed
- Increased in frequency
- Decreased in frequency
- Change in seizure activity or symptoms
- Other
If other, please describe.
Medications
- Yes – please report changes in “My Child/ Adult’s Treatment – Started/ Changed or Stopped Medication”
- No
How has your child/ adult’s medication changed in the last 6 months?
- Started a new medication
- Stopped a medication
- Changed the dosage or frequency of a current medication
- Other
If other, please describe.
Therapies
- Yes – please report changes in “My Child/ Adult’s Treatment – Started/ Changed or Stopped Therapy”
- No
How has your child/ adult’s therapy service use changed in the last 6 months?
- Started a new therapy
- Stopped a therapy
- Changed the duration or frequency of a current therapy
- Other
If other, please describe.
In the past 6 months, has your child/ adult
Undergone any pathology or testing?
- Yes – please report in “My Child/ Adult’s Treatment – Pathology and Diagnostics”
- No
Started or stopped taking part in any clinical trials or studies?
- Yes - please report in “My Child/ Adult’s Treatment – Clinical trials and studies”
- No
Attended an Angelman clinic?
- Yes - please report in “My Child/ Adult’s Treatment – Clinic Attendance”
- No
Module 3 – Illnesses or Medical Problems

Instructions: To add a new medical condition that has not been covered by the questions, please provide details in the “Other Medical Conditions” section. To add more than one condition, please click the 'Add' button. If you wish to delete an “Other” condition, please check the 'mark for deletion' box and click the green 'Save' button.

If you child/ adult has had a hospitalisation or surgery, please record this information in the Medical History and Hospitalisations module.

If you child/ adult uses or has used medication or therapy, please record this information in the Medications and Interventions module.

If you child/ adult has undergone any pathology or diagnostic testing that you wish to report, please record this information in the Pathology and Diagnostics module.
Module Option
- I want all data in this module
- I want specific data in this module
Is this the first time you are completing this module?
- Yes, first time
- No, follow up
Has there been any changes to the following medical conditions in your child/ adult in the last 12 months?
- Gastrointestinal reflux
- Constipation
- Vomiting with feeds
- Gagging
- Pneumonia
- Strep throat
- Toe walking
- Tight heel cords
- Scoliosis
- Dental problems
- Obesity
- Tube feeding
- Strabismus
- Cortical visual impairment
- Ear infections (Otis media)
- Auditory processing disorders
- Cortical myoclonus (tremors)
- Diagnosed allergies
- Intolerances
- Other
Has there been any changes to the following in your child/ adult?
- Activity level
- Food intake
- Food seeking behaviours
3.1 Gastrointestinal Problems - Has your child/adult ever experienced any of the following:
Gastroesophageal reflux?
- None
- Never formally diagnosed, but compatible history
- Yes, diagnosed
What is the current status of your child/ adult’s gastroesophageal reflux?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
What was their age at diagnosis?
Years Months
What is the severity?
- Mild
- Moderate
- Severe
- Varied
- Unknown
Was medical treatment required?
- Yes
- No
- Recommended, but not done
What is the severity?
- Mild
- Moderate
- Severe
- Varied
- Unknown
What was their age at which the gastroesophageal reflux recurred?
Years Months
What is the severity when recurring?
- Mild
- Moderate
- Severe
- Varied
- Unknown
Was medical treatment required when recurring?
- Yes
- No
- Unknown
Was surgical treatment required when recurring?
- Yes
- No
- Recommended, but not done
- Unknown
What was their age when resolved?
Years Months
Constipation?
- Yes all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
What is the current status of their constipation?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
What is the severity during episodes?
- Mild
- Moderate
- Severe
- Varied
- Unknown
How is the constipation (or regular bowel function) managed?
- Dietary
- Medication
- Other
Please specify.
Vomited with feeds (after 12 months of age)?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
What is the current status of their vomiting with feeds?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Was medical treatment required?
- Yes
- No
- Unknown
Was surgical treatment required?
- Yes
- No
- Recommended, but not done
- Unknown
Gagging (after 12 months of age)?
- Yes all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
What is the current status of their gagging?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the situation/s when gagging occurs
- Eating/ Feeding/ Drinking
- Mornings/ after sleeping
- Sensory (smells or textures)
- Emotional situations (anxiety/ excitement)
- Illness (e.g. Aspiration/ respiratory problems)
- Taking medication
- Seizure
- Brushing teeth
- Infancy only
- Other
Please specify
3.2 Throat/ Respiratory Problems - Has your child/adult ever experienced any of the following:
Pneumonia?
- Yes
- No
- Unknown
What is the current status of their pneumonia?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Was it related to aspiration?
- Yes
- No
- Unknown
Please indicate the number of episodes per year
- One off episode
- 1-2 episodes
- 3 or more episodes
What is the severity during episodes?
- Mild
- Moderate
- Severe
- Varied
- Unknown
Strep throat?
- Yes
- No
- Unknown
What is the current status of their strep throat?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the number of episodes per year
- One off episode
- 1-2 episodes
- 3 or more episodes
What is the severity during episodes?
- Mild
- Moderate
- Severe
- Varied
- Unknown
3.3 Musculoskeletal Problems - Has your child/adult ever experienced any of the following:
Toe walking?
- Yes all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
What is the current status of their toe walking?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate any treatments used
(Check all that apply. Please describe surgery in the Medical History and Hospitalisation module)
- Ankle-foot orthosis (AFO)
- Surgery
- Physical therapy
- No treatment
Tight heel cords?
- Yes all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
What is the current status of their tight heel cords?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate any treatments used
(Check all that apply. Please describe surgery in the Medical History and Hospitalisation module)
- Ankle-foot orthosis (AFO)
- Surgery
- Physical therapy
- No treatment
Does (or did) the individual exhibit scoliosis (curvature of the spine)?
- Yes
- No
- Unknown
If yes to scoliosis, please indicate any treatments used
(Check all that apply)
- Observation
- Back brace
- Surgery
- Other
What was their age at diagnosis?
Years Months
What was their age when bracing was commenced?
Years Months
Does (or did) the individual with Angelman Syndrome have any dental problems?
- Yes
- No
- Unknown
What is the current status of your child/ adult’s dental problems?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the number of fillings
- None
- 1-4
- 5-9
- More than 10
3.4 Nutrition and Feeding - Has your child/adult ever experienced any of the following:
Overweight?
- Yes
- No
- Unknown
Classified as obese?
- Yes
- No
- Unknown
What is the current status of their obesity?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the age of onset
Years Months
Food refusal/failure to thrive over 12 months of age?
- Yes
- No
- Unknown
What is the current status of their failure to thrive?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
What was their age at onset of failure to thrive?
Years Months
What was the duration of failure to thrive?
Years Months
Tube feeding (after 12 months of age)?
- Yes
- No
- Unknown
What is the current status of your child/ adult’s tube feeding?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
If he/she was tube fed, please indicate the type used
- NG tube
- OG tube
- Gastrostomy tube
What was the duration of tube feeding?
Years Months
If he/she was tube fed, please indicate the reason for placement
(Check all that apply)
- Inability to feed orally as infant
- Gastroesophageal reflux disease
- Vomiting
- Food refusal
- Complications
- Failure to thrive
Please indicate how he/she is tube fed
(Check all that apply)
- Medications only
- Nutrition using bolus feeds
- Nutrition using overnight feeds
If there were complications with tube feeding, please describe
If there were complications with tube feeding, please describe
(metres/meters – imperial to metric converter: https://www.metric-conversions.org/length/feet-to-meters.htm)
What is the your child/ adult’s current weight of the individual in kg?
(kg - - imperial to metric converter: https://www.metric-conversions.org/weight/pounds-to-kilograms.htm)
BMI
Please describe their activity level.
- Decreased
- Increased
- Normal
- Unknown
Please describe their food intake.
- Decreased
- Increased
- Normal
- Unknown
Do they exhibit food seeking behaviours?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
3.5 Sensory Problems - Has your child/adult ever experienced any of the following:
Strabismus (esotropia, exotropia, hypotropia, or hypertropia)?
- Yes
- No
- Unknown
What is the current status of their strabismus?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate any treatments used
(Check all that apply. Please describe surgery in the Medical History and Hospitalisation module)
- Glasses
- Patching
- Surgery
- No treatment
- Other
Were these recurrences of strabismus treated?
- Yes
- No
- Unknown
Cortical visual impairment?
- Yes
- No
- Unknown
What is the current status of their cortical visual impairment?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Ear infections (otitis media)?
- Yes
- No
- Unknown
What is the current status of their otitis media?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the number of episodes per year
- One off episode
- 1 – 5 episodes per year
- > 5 episodes per year
Have they ever had their hearing tested?
- Yes
- No
- Unknown
What were the results
- Typical/Normal
- Abnormal
- Unknown
3.6 Neurological Problems - Has your child/adult ever experienced any of the following:
Auditory processing disorders?
- Yes
- No
- Unknown
What is the current status of their auditory processing disorders?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Cortical myoclonus (tremors)?
- Yes
- No
- Unknown
What is the current status of their cortical myoclonus?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
What was their age at onset of cortical myoclonus?
Years Months
What is the severity?
- Mild
- Intermittently experiencing/ episodic
- Moderate
- Severe
- Varied
- Unknown
3.6 Neurological Problems - Has your child/adult ever experienced any of the following:
Diagnosed allergies?
- Yes
- No
- Unknown
What is the current status of their allergies?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the types of allergies
(Check all that apply)
- Dairy products
- Gluten or wheat
- Egg
- Nuts
- Sugar
- Other food
- Environmental triggers
- Seasonal
- Medications
- Insect bites or stings
- Other
Please specify details of allergies
Intolerances?
- Yes
- No
- Unknown
What is the current status of their intolerances?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
Please indicate the types of intolerances
(Check all that apply)
- Dairy products
- Gluten or wheat
- Egg
- Nuts
- Sugar
- Other food
- Environmental triggers
- Seasonal
- Medications
- Insect bites or stings
- Other
Please specify details of intolerances
3.16 Other Medical Conditions
Has your child/ adult had any other medical conditions that have not been covered?
- Yes
- No
- Unknown
If yes, what is the condition?
What is the current status of this condition?
- Currently experiencing
- Intermittently experiencing/ episodic
- Resolved
- Unknown
What was the age at onset of the condition?
Years Months
What is the severity, if applicable?
- Mild
- Moderate
- Severe
- Varied
- Unknown
If episodic or recurring, how often does the condition recur?
- One off episode
- Less than once a year
- 5 episodes per year
- 5 or more episodes per year
Do you have any other comments about this condition?
Module 4.5 – Communication
Module Option
- I want all data in this module
- I want specific data in this module
4.5.1. Speech,Language and Communication
Please indicate all language communication forms used
(Check all that apply)
- Moans
- Babbles (CV, VC, CVC, VCV combinations)
- Uses an intentional sound to attract attention
- Single words (or word approximations)
- 2-3 word phrases
- Longer phrase speech (conversational speech)
How many words (or word approximations)?
- 1-5
- 5-10
- More than 10
How often do they use words or word approximations
- All the time
- Most of the time
- Some of the time
- Rarely
- Never
- Unknown
At what age did they say their first word?
If yes, please indicate their most effective verbal language communication.
- Moans
- Babbles
- Uses an intentional sound to attract attention
- Single words
- 2-3 word phrases
- Longer phrase speech
Please indicate the best ability to respond to requests.
- Single word such as no
- Simple phrase command such as “Don’t touch”
- Commands - single step- longer sentence i,e, “Go to your room now”
- Commands - 2 step e.g “Go to your room and bring back your water bottle.”
- Commands - 3 step; 6 – None of the above
What is your child/ adult’s method(s) of communicating with you?
(Check all that apply)
- Spoken words
- Gestures
- Signing
- Visual pictures
- Eye tracking devices
- Low tech AAC (light tech or paper based, e.g. PODD books, core vocab boards, aided language displays)
- Mid tech (big mack switches, tech talks or voice output)
- High tech AAC (e.g. Dynamic display, iPad, Novachat Tobii)
4.5.2. Please rate your child/ adult ability to use the following communication methods/systems:
Spoken words
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
Gestures
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
Signing
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
Visual pictures
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
Eye tracking devices
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
Low tech AAC (light tech or paper based, e.g. PODD books, core vocab boards, aided language displays)
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
Mid tech (big mark switches, tech talks or voice output)
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
High tech AAC (e.g. Dynamic display, iPad, Novachat Tobii)
- Doesn’t use
- Rarely uses
- Uses for single requests regularly
- Communicates effectively with known people
- Communicates effectively with known and unknown people
4.5.3. Assisted and Augmented Communication (AAC) Usage
Has your child/adult participated in speech-language therapy before?
- Yes
- No
- Unknown
Have you heard of the Communication Matrix tool?
- Yes, and I have completed it myself
- Yes, and it has been completed by a third party (e.g. school teacher or speech therapist)
- Yes, I have heard about it but I have not completed it
- No, I have never heard of it
If you have participated in the Communication Matrix as a caregiver, please record your Matrix ID
Administration Date (test date)
Date Format: MM slash DD slash YYYY
Total Score
Percentage
Does your child/ adult use a form of Augmentative and Alternative Communication (AAC)?
- Yes
- No
- Unsure what AAC is and if it is helpful
If you have not used AAC, are you interested in using AAC with your child/ adult?
- Yes
- No
Why not?
If you were denied a form of AAC therapy, what reason was given for this?
(Select all that apply)
- Not making progress
- They were told the individual with AS was not a candidate for AAC
- Need to work on skills before introducing AAC; 4 - Not ready for AAC
- Other
Please state
Where does your child/ adult use AAC?
(Select all that apply)
- Home
- School
- Speech therapy
- Other
How often do you estimate that they use AAC to communicate at Home?
- All of the time
- Some of the time
- Rarely
- Never
What type of AAC does your child/ adult use to communicate at home?
- Gestures
- Signing
- Visual pictures
- Eye tracking devices
- Low tech AAC (light tech or paper based, e.g. PODD books, core vocab boards, aided language displays)
- Mid tech (big mack switches, tech talks or voice output)
- High tech AAC (e.g. Dynamic display, iPad, Novachat Tobii)
- Other
If other, please describe
How often do you estimate that they use AAC to communicate at School?
- All of the time
- Some of the time
- Rarely
- Never
What type of AAC does your child/ adult use to communicate at school?
- Gestures
- Signing
- Visual pictures
- Eye tracking devices
- Low tech AAC (light tech or paper based, e.g. PODD books, core vocab boards, aided language displays)
- Mid tech (big mack switches, tech talks or voice output)
- High tech AAC (e.g. Dynamic display, iPad, Novachat Tobii)
- Other
If other, please describe
How often do you estimate that they use AAC to communicate at Speech Therapy?
- All of the time
- Some of the time
- Rarely
- Never
What type of AAC does your child/ adult use to communicate at speech therapy?
- Gestures
- Signing
- Visual pictures
- Eye tracking devices
- Low tech AAC (light tech or paper based, e.g. PODD books, core vocab boards, aided language displays)
- Mid tech (big mack switches, tech talks or voice output)
- High tech AAC (e.g. Dynamic display, iPad, Novachat Tobii)
- Other
If other, please describe
How did you hear about AAC?
(Select all that apply)
- Upon diagnosis
- Less than three months after diagnosis
- 3-6 months after diagnosis
- 7-24 months after diagnosis
- 4 years after diagnosis
- 5+ years after diagnosis
For what function of communication does your child use AAC with you?
(Select all that apply)
- Make requests
- Reject/refuse
- Make comments (e.g. fun!)
- Express emotional and physical states (e.g. I am tired)
- Label (e.g. bird, mum, etc)
- Answer questions
- Call someone (e.g. Mum!)
- Assert independence (e.g. my turn !)
- Greet
- Ask questions
- Direct other’s actions (e.g. your turn)
- Share personal experiences (e.g. I had a birthday party on the weekend)
- Share thoughts and ideas
- Express manners (e.g. thank you)
Does your child use an electronic communication device for other purposes than AAC?
(Select all that apply)
- Watching videos (e.g. on YouTube)
- Listening to music
- Playing games
- Other
Please specify
On a typical day, how many hours do they spend using the device for AAC purposes?
- Less than 2 hours
- Between 2 and 4 hours
- More than 4 hours
4.5.4 Assisted and Augmented Communication (AAC) Usage by Others
Who else uses the AAC to communicate with your child/ adult?
(Select all that apply)
- Family members
- Friends
- School teachers
- Speech therapists
- Caregivers
- Other
Please specify
Did you, as a caregiver, receive training on how to use AAC with your child/ adult?
- Yes
- No
Please give details of who provided the AAC training to you.
(Select all that apply)
- School
- AAC company directly
- General AAC workshops
- Online training
- Speech therapist
- Other
Please specify
How much training have you, as a caregiver, had on using AAC?
(Select all that apply)
- None
- Self-trained via e.g. YouTube training
- Up to 1 hour
- Up to 8 hour (1-full day training)
- Several days of training
How confident/comfortable are you, as a caregiver, in using AAC with your child/ adult?
(Select all that apply)
- Limited
- Confident
- Highly-confident
Module 5 – Behaviour and Development

Please answer the following questions about your child/ adult's behaviour and development. Complete this module once when you first join the registry, then every year if your child is 10 years of age or younger, or every 2 years if your child is aged 11 or older.
*Ability questions: 1 = Unable to perform activity; 3 = Moderate difficulty; 5 = No difficulty **
**Frequency questions: 1 = Never; 3 = Some of the time; 5 = All the time **
Module Option
- I want all data in this module
- I want specific data in this module
5a.1 Please describe these types of muscle tone
How would you describe the individuals’ muscle tone?
- Low
- Medium
- High
- Mixed
How would you describe the individuals muscle tone in his/her trunk?
- Low
- Medium
- High
- Mixed
How would you describe the individuals muscle tone in his/her limbs?
- Low
- Medium
- High
- Mixed
5a.2. Current Development: General Impressions
Tick which best applies to the individual’s ability to learn
- Continues to learn new things
- Learning is static
- Lost some skills in the last year
If the individual with Angelman Syndrome has lost significant skills, what skills have he/she lost?
(Select all that apply)
- Speech
- Understanding
- Motor
What motor skills?
(Select all that apply)
- Walking
- Dressing
- Feeding
- Other
Please describe
5a.3 Other comments
Any other comments about your child/ adult’s development?
5b.1 Current Development: Gross Motor function
Please indicate the individual with Angelman Syndrome’s best mobility
- Can’t mobilise
- Rolls across floor
- Crawls
- Shuffles/scoots along seated
- Stands supported but not mobilising
- Stands alone with minimal support
- Stands alone
- Mobilises walking with support
- Mobilises walking with minimal support
- Walks independently but loses balance occasionally
- Walks but very unsteady
- Walks with stable gait
- Runs independently
- Climbs stairs (alternating foot over foot)
- Jumps
If they use support, what form of support do they use?
(Select all that apply)
- Walking frame (walker and gait trainer)
- Wheelchair for long distances
- Wheelchair for all mobilisation
Would you describe your child/ adult’s gait as typical when compared to the typically developing age matched peers?
- Yes
- No
- Unknown
Please describe your child/ adult's gait
- Broad based/ wide
- Lopsided
- Jerky
- Frequent falls
- Gets tired
- Walks on toes
- Walks with knees bent (crouched)
- Walks with feet turned in
- Walks with feet turned out
Would you describe their gait as:
- Getting better
- Stable
- Getting worse
Please describe
5b.2 Gross Motor Function - please describe your child/adult's ability to do the following:
Roll across the floor
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Sit up
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Crawl
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Shuffles or scoots when seated
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Stand up
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
And frequency
(unassisted)
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Run
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Climb stairs
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Jump
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
5.3 Fine Motor Function - please describe your child/adult's ability to do the following:
Hold things, such as a stuffed toy
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Point to indicate things
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Transfer things between hands
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Hold a pencil and scribble
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Hold a pencil and draw
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Catch a large ball
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Catch a small ball
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
5b.4 Other comments
Any other comments about your child/ adult’s motor function?
5c.1. Adaptive Skills – Dressing - please describe your child/adult's ability to do the following:
Put up their hands to help dress
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Take off simple clothes such as socks
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Take off complex clothes such as shirts
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Do up velcro
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Do up buttons or zippers
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Dress themselves, even if not always right
(eg buttons not lined up, clothes back to front)
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Dress themselves without assistance
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Chooses clothes appropriately
(eg warm clothes if cold)
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
5c.2. Adaptive Skills – Toileting and Continence - please describe your child/adult's ability to do the following:
Is continent
(toilet trained)
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Showed indications of toileting behaviours
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Timed to go to the toilet
(eg taken to the toilet every 3 hours)
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Indicates when they want to go to the toilet
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Continent of stools
(bowel movements)
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Continent of urine (dry) during the day
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Continent of urine (dry) at night
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
5c. 3. Adaptive Behaviour: Eating - please describe your child/adult's ability to do the following:
Are there textures or tastes he/she really doesn’t like?
- Yes
- No
- Unknown
Please give examples.
- Meat or fish
- Fruit or vegetables
- Rice, pasta or bread
- Beans
- Thick textures or pastes
- Crunchy textures
- Eggs
- Hard textures
- Soft textures
- Crispy textures
- Hot foods
- Cold foods
- Salty or savory foods
- Sweet foods
- Sour foods
- Spicy foods
- Dry textures
- Wet textures
- Solid foods
- Chewy textures
- Other
If yes, please give examples
Fussy with their food - frequency
And age?
(Age first performed activity)
Years Months
Hold a bottle
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Chew all textures
Or, don't know
- Or, don't know
And age?
(Age first performed activity)
Years Months
Finger feed
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Hold a spoon and feed
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Use a fork
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Feed self using fingers or utensils
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Hold a cup or tumbler and drink
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Need support with feeding from a parent/caregiver - frequency
And age?
(Age first performed activity)
Years Months
Indicates that they are full
Or, don't know
- Or, don't know
And frequency
And age?
(Age first performed activity)
Years Months
Use supplementation in the form of additional formulas - frequency
And age?
(Age first performed activity)
Years Months
5c.4 Other comments
Any other comments about your child/ adult’s dressing, toileting or eating?
5d.1 Activities
What are the individual with Angelman Syndrome’s preferred activities?
- Socialising
- Being with familiar people
- Playing social games such as peek a boo or hide and seek
- Watching TV
- Using technology and games, e.g. iPads
- Swimming
- Being outside
- Music or dancing
- Playing with toys
- Riding a bike or scooter
- Riding in a car/ travelling
- Eating/ mealtimes
- Bathing
- Playing on play equipment
- Other
(Check all that apply)
If other, please state
5d.2 Behavioural
How problematic do you see your child/ adult’s behaviour on a scale of 1 to 10 in comparison to age matched typical peers?
5d.3 Do they exhibit any of the following behaviours?
Repetitive behaviours such as slapping the wall
Or, don't know
- Or, don't know
Unusual movements that are repetitive: Focal hand movements
Or, don't know
- Or, don't know
Whole body movements
Or, don't know
- Or, don't know
Mouthing or chewing
Or, don't know
- Or, don't know
Do they exhibit any of the following behaviours? Agitation in new situations
Or, don't know
- Or, don't know
Fear of strangers
Or, don't know
- Or, don't know
Will socialise with anyone
Or, don't know
- Or, don't know
Fear of new situations
Or, don't know
- Or, don't know
Anxious behaviours
Or, don't know
- Or, don't know
When do they show these behaviours
- New situations or people
- Overstimulating settings (e.g. loud noise or crowds)
- Separation from parent/ caregiver
- Medical settings or tests
- Having to wait
- When ill or injured
- When hungry or thirsty
- When unable to communicate
- Other
What anxious behaviours
- Crying
- Repetitive movements or laughter
- Aggression (e.g. hitting, grabbing or hair pulling)
- Self harm (e.g biting own hand)
- Yelling or other vocalisations; 6 - Gagging or vomiting
- Clinging to caregiver
- Mouthing or chewing objects
- Avoidance (e.g. drop to floor)
- Escape (e.g. running away)
- Other
If yes to anxious behaviours, what?
Oppositional behaviours, e.g. refusing to do something
Or, don't know
- Or, don't know
Aggressive behaviours: biting
Or, don't know
- Or, don't know
Hair pulling
Or, don't know
- Or, don't know
Hitting
Or, don't know
- Or, don't know
Grabbing
Or, don't know
- Or, don't know
Hyperactivity
Or, don't know
- Or, don't know
Poor attention
Or, don't know
- Or, don't know
Good concentration on things he/she enjoys such as iPad games
Or, don't know
- Or, don't know
Fascination with water
Or, don't know
- Or, don't know
Impulsivity – such as running out on road/hitting out
Or, don't know
- Or, don't know
Frequent smiling at nothing in particular
Or, don't know
- Or, don't know
Frequent appropriate smiling
Or, don't know
- Or, don't know
Spontaneous laughter at nothing in particular
Or, don't know
- Or, don't know
Night time laughter
Or, don't know
- Or, don't know
Appropriate laughter
Or, don't know
- Or, don't know
Separation anxiety
Or, don't know
- Or, don't know
Fear of being left at school or in care situations
Or, don't know
- Or, don't know
Do they exhibit self harming behaviour: Skin picking
Or, don't know
- Or, don't know
Head banging
Or, don't know
- Or, don't know
Self hitting
Or, don't know
- Or, don't know
5d.4 Other comments
Any other comments about your child/ adult’s behaviour?
Module 8 – Sleep

Please answer the following questions about your child/ adult's sleep. Complete this module once when you first join the registry, then every year if your child is 10 years of age or younger, or every 2 years if your child is aged 11 or older.
This module contains the Sleep Disturbance Scale for Children. This questionnaire will allow your Doctor to have a better understanding of the sleep-wake rhythm of your child, and of any problems in his/her sleep behaviour. Try to answer every question; in answering, consider each question as pertaining to the past six (6) months of the child's life. Please answer the questions by choosing the answer that best applies to your child.
Reference: Oliviero Bruni et al
This module also includes a sleep diary of your child/adult’s sleep over one week. You can return to the Registry at any time to complete the diary for subsequent days.
To add a new Sleep Diary entry, please click the 'Add' button. If you wish to delete a Sleep Diary entry, please check the 'mark for deletion' box and click the green 'Save' button.
If you wish, you may print a paper copy of the Sleep Diary from this link.
Module Option
- I want all data in this module
- I want specific data in this module
8.1 General Sleeping
On a scale of 1-10 how would you rate your child/adult’s sleep
At what age did they first sleep through the night?
Years Months
Or, don't know
- Or, don't know
Does (or did) your child/ adult have a regular sleeping pattern?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Please describe
Do they have difficulty going to sleep on his/her own?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Do they wake during the night?
- Yes, can settle back to sleep independently
- Yes, requires help to resettle
- Yes, remains awake and unsettled
- Unknown
Do they wake up early?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Is a parent/caregiver needed to be there when they go to sleep?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Do they experience nocturnal waking (waking during the night)?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Does the individual require an adult to co sleep to get to sleep?
- Yes, all the time
- Yes, most of the time
- Yes, some of the time
- Yes, rarely
- No, never
- Unknown
Have you had a modified or special needs bed for sleeping?
- Yes, currently have
- Yes, previously had
- No
The Sleep Disturbance Scale for Children
How many hours of sleep does your child have per night?
- 9-11 hours
- 8-9 hours
- 7-8 hours
- 5-7 hours
- Less than 5 hours
How long after going to bed does your child usually fall asleep?
- Less than 15 minutes
- 15-30 minutes
- 30-45 minutes
- 45-60 minutes
- More than 60 minutes
Your child does not like going to bed
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child has difficulty in getting to sleep at night
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child feels anxious or afraid when falling asleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child startles or jerks parts of the body while falling asleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child shows repetitive actions such as rocking or head banging while falling asleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child has very strange dreams while falling asleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child sweats a lot while falling asleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child wakes up more than twice per night
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
After waking up in the night, your child has trouble falling asleep again
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
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
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child has trouble breathing during the night
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child gasps for breath or is unable to breathe during sleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child snores
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
Your child sweats a lot during the night
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
You have seen your child sleep walking
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often (3 or 5 times per week)
- Always (daily)
- Don’t know
You have seen your child verbalising in his/her sleep
- Never
- Occasionally (once or twice per month or less)
- Sometimes (once or twice per month)
- Often

Request access to data

Module 1 - Newborn and infancy history

Module 2 - History of diagnosis and results

Module 4 - Medical History

Module 6 - Epilepsy

Module 7 - Medications, Interventions and Therapies

Module 11 - Clinical Trials and Studies

Module 2.5 – 6 Month Check Up

Module 3 – Illnesses or Medical Problems

Module 4.5 – Communication

Module 5 – Behaviour and Development

Module 8 – Sleep