Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support.

IF 2.2 Q3 NEUROSCIENCES

Current Developmental Disorders Reports Pub Date : 2023-01-01 Epub Date: 2023-05-09 DOI:10.1007/s40474-023-00276-6

Lauren Jenner, Caroline Richards, Rachel Howard, Joanna Moss

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引用次数: 0

Abstract

Purpose of review: 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.

Recent findings: 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.

Summary: 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.

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遗传综合征中自闭症特征的异质性：评估和支持的主要考虑因素。

综述目的：据报道，与智力残疾相关的遗传综合征中自闭症特征的患病率升高。这篇综述总结了自闭症在以下综合征中行为异质性的最新证据：Fragile X、Cornelia de Lange、Williams、Prader Willi、Angelman、Down、Smith Magenis和结节性硬化症。讨论了评估和支持的主要考虑因素。最近的发现：这些综合征中自闭症相关行为的特征和发展轨迹表明了一定程度的综合征特异性，这可能与更广泛的行为表型（如社交能力亢进）、智力残疾和心理健康（如焦虑）相互作用。遗传亚型和综合征中并发癫痫有助于增加自闭症特征的重要性。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，因为这些工具和标准在这些人群中缺乏敏感性和特异性。摘要：自闭症的特征在遗传综合征中具有高度异质性，通常可与非综合征自闭症区分开来。该人群的自闭症诊断评估实践应针对特定的综合征进行调整。服务提供必须开始优先考虑以需求为导向的支持。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Current Developmental Disorders Reports Psychology-Developmental and Educational Psychology

CiteScore

3.50

自引率

5.00%

发文量

期刊介绍： Current Developmental Disorders Reports commissions expert reviews from leading scientists and clinicians in the field of developmental disorders. What makes the journal unique is its focus—coverage of not one but a host of major disorders in the field, ranging from autism, ADHD, and Tourette’s syndrome, to motor disorders such as cerebral palsy and developmental coordination disorder, through to language and reading disorders such as developmental dyslexia. International authorities serve as editorial board members and section editors, and articles from some of the world’s leading researchers will focus on timely and current reviews of the literature in areas spanning the continuum from bench to communities to individuals. Reviews on new scientific discoveries in neurosciences, genetics, and epidemiology, as well as clinical interventions and policy will provide readers with access to new, innovative, and impactful discoveries as they emerge.