Epigenetic processes have been suggested as key mechanisms in the etiology of neurodevelopmental disorders. This systematic review summarizes the current evidence for an association between epigenetics and Autism Spectrum Disorder (ASD) and Attention/Deficit-Hyperactivity Disorder (ADHD). Six databases were searched until the 24th of October 2017. Of the 2169 retrieved articles, 29 met our inclusion criteria. While generally associations between epigenetics and neurodevelopmental disorders were reported, only a few findings were consistent across independent analyses. Differential epigenetic markers were repeatedly identified in OR2L13, C11orf21/TSPAN32, PRRT1 and H3K27 for autism, and in VIPR2 for ADHD. Overall, evidence of an association between epigenetic modifications and ASD or ADHD should be considered preliminary and based on studies suffering from numerous caveats. We highlight the need for carefully designed investigations and for greater homogeneity and provide specific recommendations for future research. Despite the current limited understanding, the suggestive findings and rapid advances in the field hold the promise of a forthcoming elucidation of the role of epigenetic modifications in neurodevelopmental disorders.

已经提出表观遗传过程是神经发育障碍的病因学中的关键机制。这篇系统的综述总结了表观遗传学和自闭症谱系障碍（ASD）与注意力/缺乏多动症（ADHD）之间存在关联的当前证据。截至2017年10月24日，共检索了六个数据库。在检索到的2169篇文章中，有29篇符合我们的纳入标准。虽然一般报道了表观遗传学和神经发育障碍之间的关联，但在独立分析中只有少数发现是一致的。在自闭症的OR2L13，C11orf21 / TSPAN32，PRRT1和H3K27和VIPR2中反复鉴定了不同的表观遗传标记用于多动症。总体而言，表观遗传修饰与ASD或ADHD之间存在关联的证据应被认为是初步的，并基于遭受许多警告的研究。我们强调需要精心设计的调查和更高的同质性，并为以后的研究提供具体建议。尽管目前知之甚少，但是该领域中的暗示性发现和快速进展仍有望阐明表观遗传修饰在神经发育障碍中的作用。