Study of the Prevalence of Autistic Traits in Angelman Syndrome

Study of the Prevalence of Autistic Traits in Angelman Syndrome, the Correlation With Cognitive Level, Epilepsy, With Socio-communication Skills and Parenting Styles

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.

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