Overview
The goal of this observational cross-sectional study is to establish the prevalence of autism spectrum disorder in children and adolescents with Angelman syndrome. The main questions it aims to answer are:
- which clinical variables differentiate AS patients with and without Autism Spectrum Disorder between genetics, epilepsy, pharmacotherapy, behavioural problems, parenting style and parents' perceived stress.
- which clinical variables differentiate parenting styles and levels of perceived stress.
Data from neuropsychological, speech therapy and physiotherapeutic assessments are collected during regular clinical follow-ups, regarding: cognitive development ("Bayely Scales of Infant Development-III", Cognitive Scale) and adaptive behaviour; Autism and Autism Spectrum Disorder ("Autism Diagnostic Observational Schedule-2"); parental stress and parenting styles; social-communicative skills; motor development.
Eligibility
Inclusion Criteria:
- genetically confirmed diagnosis of Angelman Syndrome
- chronological age between 4-15 years
Exclusion Criteria:
- genetic examination pending report
- mental age lower than 12 months
- brain injury acquired in the peri- or postnatal period