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Study of the Prevalence of Autistic Traits in Angelman Syndrome

I

IRCCS Eugenio Medea

Status

Enrolling

Conditions

Angelman Syndrome

Study type

Observational

Funder types

Other

Identifiers

NCT06337383
12.2021 ANGELMAN

Details and patient eligibility

About

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.

Enrollment

46 estimated patients

Sex

All

Ages

4 to 14 years old

Volunteers

No Healthy Volunteers

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

Trial contacts and locations

1

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Central trial contact

Martina Baggio

Data sourced from clinicaltrials.gov

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