Back to Modules

Module 2

Module 2 – History of diagnosis and results

Clinics/ Diagnostic Tests, Epilepsy/ Seizure, Fine Motor, Gross Motor, Illness, Speech

Age of diagnosis, results and the pathway to diagnosis

2.1 History of Diagnosis (ANGHistoryOfDiagnosis)

No	Code	Question	Response
2.1.1a	ANGAgeDiagnosis2	Age at diagnosis
2.1.3	ANGCurrentPatientAge	Current age of the individual with Angelman Syndrome in years	Calculated from DOB
2.1.4a	ANGParentDx	Did you suspect Angelman syndrome prior to the official diagnosis?
2.1.4	ANGWhoMadeDiagnosis	Who made the diagnosis? (Check all that apply)	1 – Paediatrician/GP; 2- Neuropaediatrician; 3 – Neurologist; 4 – Geneticist; 5 – Other;
2.1.5	ANGDiagnosisOther	Please specify
2.1.6	ANGNeurologicalSymptoms	History that led to the Angelman Syndrome syndrome Diagnosisdiagnosis (Check all that apply)	1 – Microcephaly; 2 – Developmental delay; 3 – Motor development; 4 – Unusual behaviours; 5 – Lack of language; 6 – Abnormal neurological exam; 7 – Seizures; 8 – Ataxia; 9 – Happy disposition/ laughter; 10 – Light pigmentation ; 11 – Eye/ vision problems; 12 – Gastrointestinal reflux; 13 – Failure to thrive; 14 – Hypotonia ; 15 – Illness/ injury requiring medical care led to diagnosis; 16 – Other;
2.1.7	ANGHistoryOther	Please give details
2.1.8	ANGMisdiagnosis	If there was a misdiagnosis prior to Angelman syndrome, please select (Check all that apply):	1 – Autism; 2 – Seizure Disorder; 3 – Cerebral Palsy; 4 – Global Development Delay; 5 – Prader-Willi Syndrome; 6 – Other; 7 – Unknown
2.1.9	ANGMisdiagnosisOTH	Please comment
2.1.10	ANGDualDX	Do they currently have a dual diagnosis ?	1 – Yes, 2 – No, 3 – Unknown
2.1.11	ANGDualDxWhat2	Please list any other current diagnoses the individual has received (Please do not include any misdiagnoses prior to the diagnosis of Angelman Syndrome).	1 – Autism Spectrum Disorder; 2-– Epilepsy; 3 – Lennox-Gastaut syndrome; 4 – Cerebral Palsy; 5 – Global developmental delay; 6 – Other rare disease (please state); 7 – Other, please specify.
2.1.12	ANGDualDxWhatOther	Please list other diagnoses

2.2 Individual with Angelman Syndrome Results (ANGPatientResults)

No	Code	Question	Response
2.2.1	ANGGeneticTest	Has the individual with Angelman Syndrome had a genetic test for Angelman Syndrome?	1 – Yes; 2 – No; 3 – Unknown
	ANGClinicalDx	Have they received a clinical diagnosis of Angelman Syndrome?	1 – Yes; 2 – No; 3 – Unknown
2.2.1a	ANGGeneticTestKnown	Do you know what type of tests were performed?	1 – Yes; 2 – No;
2.2.2b	ANGGeneticTestType2	What type of test was performed?	1 – Array; 2 – Methylation; 3 – Mutation; 4 – FISH
2.2.3	ANGDNAMethylAbnormalResult	What was the test result?	1 – Chromosome deletion ; 2 – Chromosome deletion Class 1; 3 – Chromosome deletion Class II; 4 – Chromosome deletion Class III; 5 – Chromosome deletion Class IV; 6 – Chromosome deletion Class V; 7 – Paternal uniparental disomy ; 8 – Imprinting centre defect; 9 – UBE3A Mutation (type unknown); 10 – UBE3A Mutation (Truncating); 11 – UBE3A Mutation (Missense); 12 – UBE3A Mutation (nonsense); 13 – UBE3A Mutation (Benign); 14 – Mosaic; 15 – Unknown/ Clinical

2.3 Individual with Angelman Syndrome Result Files (ANGResultFile)

No	Code	Question	Response
2.3.1	ANGBloodResultFile	Please upload any diagnosis test results you have

Providing Insight & Research into Angelman Syndrome

Creating new opportunities, insight & understanding.

Access our Data Register Now

admin