Study of the Prevalence of Autistic Traits in Angelman Syndrome

NCT06337383 | Recruiting

• 1 other identifier: 12.2021 ANGELMAN
• Study Type: observational
• Target: 46
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Angelman Syndrome

Outcome Measures

Primary Outcomes (1)

• Total score of the Autism Diagnostic Observation Schedule -2 (ADOS-2), Module 1,

  The ADOS-2 consists of different semi-structured standard situations that induce communication, social interaction and imaginative play and that is considered a gold standard in autism assessment; Module 1, that does not require the use of speech, is employed. In particular, our outcome of interest is the "Total score", given by the sum of the "Communication and Reciprocal Social Interactions" and the "Stereotyped Behaviors and Restricted Interests" raw scores. Higher scores correspond to a greater presence of autistic features (min:0; max:28; cut-off for autism spectrum disorder:11; cut-off for autism disorder:16).

  Once at recruitment

Secondary Outcomes (4)

• Age-equivalent score at the Cognitive Scale of the Bayley Scales of Infant Development - 3rd version (Bayley-III)

  Once at recruitment

• Total Stress score at the Parent Stress Index - 4th edition (PSI-4) questionnaire

  Once at recruitment

• Global score at the Aberrant Behaviour Checklist (ABC)

  Once at recruitment

• Total Raw score at the Social Communication Questionnaire - Current version(SCQ)

  Once at recruitment

Eligibility Criteria

• Age: 4 Years - 14 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Participants are recruited at I.R.C.C.S. "E. Medea", in Conegliano (Italian referral centre for Anelman Syndrome) in collaboration with Or.S.A (the Italian organisation for the syndrome).

You may qualify if:

• genetically confirmed diagnosis of Angelman Syndrome
• chronological age between 4-15 years

You may not qualify if:

• genetic examination pending report
• mental age lower than 12 months
• brain injury acquired in the peri- or postnatal period

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (1)

I.R.C.C.S. "E.Medea"

Conegliano, Treviso, 31015, Italy

RECRUITING

MeSH Terms

Conditions

Angelman Syndrome

Condition Hierarchy (Ancestors)

Movement Disorders; Central Nervous System Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chromosome Disorders; Genetic Diseases, Inborn; Imprinting Disorders

Study Officials

• Martina Baggio

  Scientific Institute IRCCS E. Medea, Epilepsy Unit, Conegliano 31015, Italy

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Martina Baggio

CONTACT

+39 340 802 1282; martina.baggio@lanostrafamiglia.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 21, 2024
• First Posted: March 29, 2024
• Study Start: March 15, 2022
• Primary Completion: June 1, 2024
• Study Completion: June 1, 2024
• Last Updated: April 18, 2024

Record last verified: 2024-04

Locations

IT (1)