Study of the Prevalence of Autistic Traits in Angelman Syndrome, the Correlation With Cognitive Level, Epilepsy, With Socio-communication Skills and Parenting Styles
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 46
- 试验地点
- 1
- 主要终点
- Total score of the Autism Diagnostic Observation Schedule -2 (ADOS-2), Module 1,
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 4 Years 至 14 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •genetically confirmed diagnosis of Angelman Syndrome
- •chronological age between 4-15 years
排除标准
- •genetic examination pending report
- •mental age lower than 12 months
- •brain injury acquired in the peri- or postnatal period
结局指标
主要结局
Total score of the Autism Diagnostic Observation Schedule -2 (ADOS-2), Module 1,
时间窗: Once at recruitment
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).
次要结局
- Total Raw score at the Social Communication Questionnaire - Current version(SCQ)(Once at recruitment)
- 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)