Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Department of Psychology, University of Miami, Coral Gables, Florida.
Biol Psychiatry Cogn Neurosci Neuroimaging. 2021 Feb;6(2):200-210. doi: 10.1016/j.bpsc.2020.06.017. Epub 2020 Jul 6.
Autism spectrum disorder is a complex, heterogeneous neurodevelopmental condition of largely unknown etiology. This heterogeneity of symptom presentation, combined with high rates of comorbidity with other developmental disorders and a lack of reliable biomarkers, makes diagnosing and evaluating life outcomes for individuals with autism spectrum disorder a challenge. We review the growing literature on neuroimaging-based biomarkers of risk for the development of autism and explore evidence for resilience in some autistic individuals. The current literature suggests that neuroimaging during early infancy, in combination with prebirth and early genetic studies, is a promising tool for identifying biomarkers of risk, while studies of gene expression and DNA methylation have provided some key insights into mechanisms of resilience. With genetics and the environment contributing to both risk for the development of autism spectrum disorder and conditions for resilience, additional studies are needed to understand how risk and resilience interact mechanistically, whereby factors of risk may engender conditions for adaptation. Future studies should prioritize longitudinal designs in global cohorts, with the involvement of the autism community as partners in research to help identify domains of functioning that hold value and importance to the community.
自闭症谱系障碍是一种病因不明的复杂、异质性神经发育障碍。这种症状表现的异质性,加上与其他发育障碍的高共病率和缺乏可靠的生物标志物,使得自闭症谱系障碍患者的诊断和生活结局评估成为一项挑战。我们回顾了越来越多的基于神经影像学的自闭症发展风险生物标志物的文献,并探讨了一些自闭症个体的弹性证据。目前的文献表明,在婴儿早期进行神经影像学检查,结合产前和早期遗传学研究,是识别风险生物标志物的有前途的工具,而对基因表达和 DNA 甲基化的研究为弹性机制提供了一些关键见解。由于遗传和环境既导致自闭症谱系障碍的发展风险,也导致弹性条件,因此需要进一步的研究来了解风险和弹性如何在机制上相互作用,从而使风险因素产生适应条件。未来的研究应该在全球队列中优先进行纵向设计,并让自闭症社区作为研究伙伴参与,以帮助确定对社区具有价值和重要意义的功能领域。