Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri 63110, USA; email:
Department of Psychology, King's College London Institute of Psychiatry, Psychology & Neuroscience, London SE5 8AF, United Kingdom.
Annu Rev Clin Psychol. 2021 May 7;17:365-389. doi: 10.1146/annurev-clinpsy-081219-110503. Epub 2021 Feb 12.
A vast share of the population-attributable risk for autism relates to inherited polygenic risk. A growing number of studies in the past five years have indicated that inherited susceptibility may operate through a finite number of early developmental liabilities that, in various permutations and combinations, jointly predict familial recurrence of the convergent syndrome of social communication disability that defines the condition. Here, we synthesize this body of research to derive evidence for a novel developmental substructure for autism, which has profound implications for ongoing discovery efforts to elucidate its neurobiological causes, and to inform future clinical and biomarker studies, early interventions, and personalized approaches to therapy.
自闭症的发病风险很大程度上与遗传多基因风险相关。过去五年中越来越多的研究表明，遗传易感性可能通过有限数量的早期发育缺陷来起作用，这些缺陷以各种排列组合共同预测了导致自闭症的社会交流障碍这一共性综合征的家族复发。在这里，我们综合了这一领域的研究成果，为自闭症提供了一种新的发展结构的证据，这对正在进行的揭示其神经生物学原因的发现工作，以及为未来的临床和生物标志物研究、早期干预和个性化治疗方法提供了信息。
