Emberti Gialloreti Leonardo, Mazzone Luigi, Benvenuto Arianna, Fasano Alessio, Alcon Alicia Garcia, Kraneveld Aletta, Moavero Romina, Raz Raanan, Riccio Maria Pia, Siracusano Martina, Zachor Ditza A, Marini Marina, Curatolo Paolo
Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.
Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University of Rome, 00133 Rome, Italy.
J Clin Med. 2019 Feb 8;8(2):217. doi: 10.3390/jcm8020217.
Autism Spectrum Disorder (ASD) is a complex condition with early childhood onset, characterized by a set of common behavioral features. The etiology of ASD is not yet fully understood; however, it reflects the interaction between genetics and environment. While genetics is now a well-established risk factor, several data support a contribution of the environment as well. This paper summarizes the conclusions of a consensus conference focused on the potential pathogenetic role of environmental factors and on their interactions with genetics. Several environmental factors have been discussed in terms of ASD risk, namely advanced parental age, assisted reproductive technologies, nutritional factors, maternal infections and diseases, environmental chemicals and toxicants, and medications, as well as some other conditions. The analysis focused on their specific impact on three biologically relevant time windows for brain development: the periconception, prenatal, and early postnatal periods. Possible protective factors that might prevent or modify an ASD trajectory have been explored as well. Recommendations for clinicians to reduce ASD risk or its severity have been proposed. Developments in molecular biology and big data approaches, which are able to assess a large number of coexisting factors, are offering new opportunities to disentangle the gene⁻environment interplay that can lead to the development of ASD.
自闭症谱系障碍(ASD)是一种起病于儿童早期的复杂病症,其特征为一系列常见的行为表现。ASD的病因尚未完全明确;然而,它反映了基因与环境之间的相互作用。虽然基因现在是一个已明确的风险因素,但也有若干数据支持环境因素也有影响。本文总结了一次共识会议的结论,该会议聚焦于环境因素的潜在致病作用及其与基因的相互作用。已从ASD风险的角度讨论了若干环境因素,即父母高龄、辅助生殖技术、营养因素、母体感染与疾病、环境化学物质与毒物、药物以及一些其他情况。分析聚焦于它们对大脑发育三个生物学相关时间窗的具体影响:受孕前后、产前和产后早期。还探讨了可能预防或改变ASD病程的潜在保护因素。已针对临床医生提出了降低ASD风险或减轻其严重程度的建议。分子生物学和大数据方法的发展能够评估大量共存因素,为厘清可能导致ASD发生的基因-环境相互作用提供了新机遇。