Module 2

Module 2 – History of diagnosis and results

Moico Module 4 Alt

Age of diagnosis, results and the pathway to diagnosis

2.1 History of Diagnosis (ANGHistoryOfDiagnosis)
NoCodeQuestionResponse
2.1.1aANGAgeDiagnosis2Age at diagnosis 
2.1.3ANGCurrentPatientAgeCurrent age of the individual with Angelman Syndrome in years  Calculated from DOB
2.1.4aANGParentDxDid you suspect Angelman syndrome prior to the official diagnosis? 
2.1.4ANGWhoMadeDiagnosisWho made the diagnosis?
(Check all that apply)
1 – Paediatrician/GP;
2- Neuropaediatrician;
3 – Neurologist;
4 – Geneticist;
5 – Other;
2.1.5ANGDiagnosisOtherPlease specify 
2.1.6ANGNeurologicalSymptomsHistory 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; 
2.1.7ANGHistoryOtherPlease give details 
2.1.8ANGMisdiagnosisIf 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
2.1.9ANGMisdiagnosisOTHPlease comment 
2.1.10ANGDualDXDo they currently have a dual diagnosis ?1 – Yes,
2 – No,
3 – Unknown
2.1.11ANGDualDxWhat2Please 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. 
2.1.12ANGDualDxWhatOtherPlease list other diagnoses 

2.2 Individual with Angelman Syndrome Results (ANGPatientResults)

NoCodeQuestionResponse
2.2.1ANGGeneticTestHas the individual with Angelman Syndrome had a genetic test for Angelman Syndrome?1 – Yes;
2 – No;
3 – Unknown
 ANGClinicalDxHave they received a clinical diagnosis of Angelman Syndrome?1 – Yes;
2 – No;
3 – Unknown
2.2.1aANGGeneticTestKnownDo you know what type of tests were performed?1 – Yes;
2 – No;
2.2.2bANGGeneticTestType2What type of test was performed?

1 – Array;
2 – Methylation;
3 – Mutation;
4 – FISH

2.2.3ANGDNAMethylAbnormalResultWhat 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)

NoCodeQuestionResponse
2.3.1ANGBloodResultFilePlease upload any diagnosis test results you have 
Providing Insight & Research into Angelman Syndrome
Creating new opportunities, insight & understanding.
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Hi Patient Data

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