Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom.
Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, United Kingdom; Centre for Addiction and Mental Health & The Hospital for Sick Children, Department of Psychiatry, University of Toronto, Toronto, ON, Canada.
Handb Clin Neurol. 2020;175:283-297. doi: 10.1016/B978-0-444-64123-6.00020-5.
Autism is a heterogenous set of early-onset neurodevelopmental conditions that are more prevalent in males than in females. Due to the high phenotypic, neurobiological, developmental, and etiological heterogeneity in the autism spectrum, recent research programs are increasingly exploring whether sex- and gender-related factors could be helpful markers to clarify the heterogeneity in autism and work toward a personalized approach to intervention and support. In this chapter, we summarize recent clinical and neuroscientific research addressing sex/gender influences in autism and explore how sex/gender-based investigations shed light on similar or different underlying neurodevelopmental mechanisms of autism by sex/gender. We review evidence that may help to explain some of the underlying sex-related biological mechanisms associated with autism, including genetics and the effects of sex steroid hormones in the prenatal environment. We conclude that current research points toward coexisting quantitative and, perhaps more evidently, qualitative sex/gender-modulation effects in autism across multiple neurobiological aspects. However, converging findings of specific neurobiological presentations and sex/gender-informed mechanisms cutting across the many subgroups within the autism spectrum are still lacking. Future research should use big data approaches and new stratification methods to decompose sex/gender-related heterogeneity in autism and work toward personalized, sex/gender-informed intervention and support for autistic people.
自闭症是一组异质性的早发性神经发育障碍，在男性中比在女性中更为普遍。由于自闭症谱系中存在高度表型、神经生物学、发育和病因学的异质性，最近的研究项目越来越多地探索性别和性别相关因素是否可以作为有助于阐明自闭症异质性的标志物，并朝着个性化的干预和支持方法努力。在本章中，我们总结了最近涉及自闭症中性别影响的临床和神经科学研究，并探讨了性别/基于性别的调查如何通过性别/性别揭示自闭症潜在的神经发育机制的相似或不同之处。我们回顾了一些可能有助于解释与自闭症相关的一些潜在的与性相关的生物学机制的证据，包括遗传学和产前环境中性类固醇激素的作用。我们得出结论，目前的研究表明，自闭症在多个神经生物学方面存在共存的定量和（也许更明显）定性的性别调节效应。然而，自闭症谱系内的许多亚组中仍然缺乏特定神经生物学表现和性别/性别告知机制的一致发现。未来的研究应该使用大数据方法和新的分层方法来分解自闭症中的性别/性别相关异质性，并朝着个性化、性别/性别告知的干预和支持自闭症患者的方向努力。
