PDF(Pubmed)
Abstract：
UNASSIGNED: Elevated prevalence of autism characteristics is reported in genetic syndromes associated with intellectual disability. This review summarises recent evidence on the behavioural heterogeneity of autism in the following syndromes: Fragile X, Cornelia de Lange, Williams, Prader-Willi, Angelman, Down, Smith-Magenis, and tuberous sclerosis complex. Key considerations for assessment and support are discussed.
UNASSIGNED: The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations.
UNASSIGNED: Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.
UNASSIGNED: The profile and developmental trajectory of autism-related behaviour in these syndromes indicate some degree of syndrome specificity which may interact with broader behavioural phenotypes (e.g. hypersociability), intellectual disability, and mental health (e.g. anxiety). Genetic subtype and co-occurring epilepsy within syndromes contribute to increased significance of autism characteristics. Autism-related strengths and challenges are likely to be overlooked or misunderstood using existing screening/diagnostic tools and criteria, which lack sensitivity and specificity within these populations.
UNASSIGNED: Autism characteristics are highly heterogeneous across genetic syndromes and often distinguishable from non-syndromic autism. Autism diagnostic assessment practices in this population should be tailored to specific syndromes. Service provisions must begin to prioritise needs-led support.
摘要：
■据报道，在与智力障碍相关的遗传综合征中，自闭症特征的患病率升高。这篇综述总结了以下综合征中自闭症行为异质性的最新证据：脆性X，CorneliadeLange,威廉姆斯，Prader-Willi,Angelman,Down,Smith-Magenis,和结节性硬化症。讨论了评估和支持的关键考虑因素。
这些综合征中自闭症相关行为的概况和发展轨迹表明某种程度的综合征特异性，可能与更广泛的行为表型（例如超社交能力）相互作用，智力残疾,和心理健康（例如焦虑）。综合征中的遗传亚型和共同发生的癫痫有助于自闭症特征的重要性增加。使用现有的筛查/诊断工具和标准，自闭症相关的优势和挑战可能会被忽视或误解。在这些人群中缺乏敏感性和特异性。
自闭症特征在遗传综合征中具有高度异质性，并且通常与非综合征性自闭症可区分。该人群的自闭症诊断评估实践应针对特定综合征进行定制。服务规定必须开始优先考虑以需求为导向的支持。
这些综合征中自闭症相关行为的概况和发展轨迹表明某种程度的综合征特异性，可能与更广泛的行为表型（例如超社交能力）相互作用，智力残疾,和心理健康（例如焦虑）。综合征中的遗传亚型和共同发生的癫痫有助于自闭症特征的重要性增加。使用现有的筛查/诊断工具和标准，自闭症相关的优势和挑战可能会被忽视或误解。在这些人群中缺乏敏感性和特异性。
自闭症特征在遗传综合征中具有高度异质性，并且通常与非综合征性自闭症可区分。该人群的自闭症诊断评估实践应针对特定综合征进行定制。服务规定必须开始优先考虑以需求为导向的支持。
