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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:
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.
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| Age-equivalent score at the Cognitive Scale of the Bayley Scales of Infant Development - 3rd version (Bayley-III) | The Bayley-III Cognitive Scale is used to assess cognitive level. In particular, age-equivalent scores are considered (min: 1 months; max: 42 months). | Once at recruitment |
| Total Stress score at the Parent Stress Index - 4th edition (PSI-4) questionnaire |
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Inclusion Criteria:
Exclusion Criteria:
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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).
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Martina Baggio | Contact | +39 340 802 1282 | martina.baggio@lanostrafamiglia.it |
| Name | Affiliation | Role |
|---|---|---|
| Martina Baggio | Scientific Institute IRCCS E. Medea, Epilepsy Unit, Conegliano 31015, Italy | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| I.R.C.C.S. "E.Medea" | Recruiting | Conegliano | Treviso | 31015 | Italy |
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| ID | Term |
|---|---|
| D017204 | Angelman Syndrome |
| ID | Term |
|---|---|
| D009069 | Movement Disorders |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
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PSI-4 is a standardised parent self-report instrument to explore perceived stress in their role and therefore to identify situations at risk of dysfunctional parent-child system. It is composed of two subscales: the child domain, that identifies six child characteristics, and the parent domain, that describes seven stressors related to parent and family characteristics. Our outcome of interest is the Total Stress score, given by the sum of the scores obtained at the "Child domain" and the "Parent domain". Higher scores correspond to a greater level of parental stress. |
| Once at recruitment |
| Global score at the Aberrant Behaviour Checklist (ABC) | The ABC is a questionnaire that measures psychiatric symptoms and behavioural disturbance in individuals with severe or very severe intellectual disability across 5 domains: irritability, agitation and crying; lethargy/social withdrawal; stereotypic behaviour; hyperactivity/noncompliance; inappropriate speech. It is useful to assess the possible effects of medications or other treatments. In particular is considered the Global score, obtained from the sum of the scores at each subscale (min: 0; max: 171; higher scores correspond to a greater level of behavioural problems). | Once at recruitment |
| Total Raw score at the Social Communication Questionnaire - Current version(SCQ) | Children's communication, social and interpersonal skills are indirectly investigated through the Social Communication Questionnaire- Current version. It screens for characteristics associated with Autism (cut-off: 22) and Autism Spectrum Disorder (cut-off: 15) such as social interaction, communication and repetitive behaviour, considering the last three months (min: 0; max: 33). | Once at recruitment |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |