Natural History Study for Patients With Angelman Syndrome

A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman

This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.

The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.

Patients are seen every six months for five years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II).

Inclusion Criteria:

• Genetically confirmed diagnosis of AS
• 0-99 years
• Male or Female
• Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study

Exclusion Criteria:

• comorbidity that could potentially affect the results of the study coexists. This