An Overview of the Adaptive Behaviour Profile in Young Children with Angelman Syndrome: Insights from the Global Angelman Syndrome Registry

Abstract Objectives Angelman syndrome (AS) is a rare genetic disorder that affects the expression of UBE3A gene within central nervous system profoundly impacts neurodevelopment. Individuals with AS experience significant challenges across multiple adaptive behaviour domains including communication, motor skills, and ability to independently perform daily functions such as feeding, toileting. Furthermore, persons can demonstrate specific behaviours limit their participate social environment vary age. The aim this paper explore profile through parent report from Global Syndrome Registry. Methods Specific data Registry were analysed 204 young children, under age 6 years old, formal diagnoses AS. Analysis focused on communication gross fine self-care skills (feeding, toileting, dressing), behavioural characteristics. Several relationships explored: (a) at which certain first performed based genotype; (b) abilities in behaviours, according genotype, (c) frequency children presence challenging genotype. Results We visually present ages frequent speech, walking, independent dressing toileting mastered by children. Additionally, we provide in-depth descriptives expressive receptive (including use alternative forms), eating, dressing, anxiety, aggression, other Conclusions This cross-sectional showcases although many determined age, non-deletion aetiology exhibited advantages may have impacted upon subsequent skills. study provides valuable insight into