Disentangling the heterogeneity of autism spectrum disorder through genetic findings.
Disentangling the heterogeneity of autism spectrum disorder through genetic findings.
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DOI：
10.1038/nrneurol.2013.278
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发表时间：
2014-02
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自闭症谱系障碍（ASD）是一组异质性的疾病，这给诊断和治疗带来了巨大的挑战。在过去的十年中，在确定ASD的遗传风险因素方面取得了相当大的进展，这些因素定义了相关行为缺陷的具体机制和途径。在这篇综述中，我们讨论了ASD遗传学的一些最新进展如何促进了这种疾病的表型异质性的解析。我们认为，只有通过这些进展，我们将开始定义内表型，可以受益于有针对性的，假设驱动的治疗。我们回顾了用于识别和表征ASD遗传学的最新技术，然后考虑三个主题-单基因疾病，ASD中的性别偏见和神经系统共病的遗传学-突出了我们可以使用遗传学来定义自闭症谱系内的许多表型的方法。我们还介绍了目前ASD基因检测的临床指南及其对预后和治疗的影响。
Autism spectrum disorder (ASD) represents a heterogeneous group of disorders, which presents a substantial challenge to diagnosis and treatment. Over the past decade, considerable progress has been made in the identification of genetic risk factors for ASD that define specific mechanisms and pathways underlying the associated behavioural deficits. In this Review, we discuss how some of the latest advances in the genetics of ASD have facilitated parsing of the phenotypic heterogeneity of this disorder. We argue that only through such advances will we begin to define endophenotypes that can benefit from targeted, hypothesis-driven treatments. We review the latest technologies used to identify and characterize the genetics underlying ASD and then consider three themes—single-gene disorders, the gender bias in ASD, and the genetics of neurological comorbidities—that highlight ways in which we can use genetics to define the many phenotypes within the autism spectrum. We also present current clinical guidelines for genetic testing in ASD and their implications for prognosis and treatment.