- Title
- An Overview of the Adaptive Behaviour Profile in Young Children with Angelman Syndrome: Insights from the Global Angelman Syndrome Registry
- Creator
- Roche, Laura; Tones, Megan; Cross, Meagan; Bellgard, Matthew; Heussler, Helen
- Relation
- Advances in Neurodevelopmental Disorders Vol. 6, p. 442-455
- Publisher Link
- http://dx.doi.org/10.1007/s41252-022-00278-2
- Publisher
- Springer
- Resource Type
- journal article
- Date
- 2022
- Description
- Objectives: Angelman syndrome (AS) is a rare genetic disorder that affects the expression of the UBE3A gene within the central nervous system that profoundly impacts neurodevelopment. Individuals with AS experience significant challenges across multiple adaptive behaviour domains including communication, motor skills, and the ability to independently perform daily functions such as feeding, and toileting. Furthermore, persons with AS can demonstrate specific behaviours that limit their ability to participate within their social environment that vary with age. The aim of this paper is to explore the adaptive behaviour profile through parent report from the Global Angelman Syndrome Registry.Methods: Specific parent report data from the Global Angelman Syndrome Registry were analysed to explore the adaptive profile of 204 young children, under the age of 6 years old, with formal diagnoses of AS. Analysis of data focused on communication skills, gross and fine motor skills, daily self-care skills (feeding, toileting, and dressing), and behavioural characteristics. Several relationships were explored: (a) the age at which certain skills were first performed based on genotype; (b) abilities in motor and adaptive behaviours, according to age and genotype, and (c) the frequency at which children performed specific communication skills and the presence and frequency of challenging behaviours, across age and genotype.Results: We visually present the ages at which frequent speech, walking, and independent dressing and toileting were first mastered by children. Additionally, we provide in-depth descriptives of expressive and receptive communication skills (including the use of alternative communication forms), fine and gross motor skills, eating, dressing, toileting, anxiety, aggression, and other behavioural characteristics.Conclusions: This cross-sectional profile of adaptive skills in 204 young children with AS showcases that although many communication, motor and adaptive skills were determined by age, children with a non-deletion aetiology exhibited advantages in communication skills, which may have impacted upon subsequent adaptive skills. The use of parent report in the present study provides valuable insight into the adaptive behaviour profile of young children with AS.
- Subject
- Angelman syndrome; behavioural phenotype; independent functioning; daily living; maladaptive behaviours; patient registry
- Identifier
- http://hdl.handle.net/1959.13/1481147
- Identifier
- uon:50652
- Identifier
- ISSN:2366-7532
- Language
- eng
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