神经发育关键期环境危险因素与孤独症谱系障碍遗传特征关系的人群研究

孤独症谱系障碍（ASD）病因是目前尚未解决的科学问题，它制约了ASD预防及治疗成为研究热点。目前公认遗传与环境因素协同引发ASD，在神经发育关键窗口期的环境危险因素引人注目，但该期与ASD遗传变异特征关系的人群直接证据缺乏。本项目在以往研究的基础上应用流行病学研究方法和多学科手段，使用回顾和前瞻性方法调查胎、婴儿期环境内分泌干扰化合物（EDCs）相关的环境毒物暴露、营养、生活方式及身心健康等环境危险因素对ASD患病的影响及可能机制；测定ASD先证者核心家庭的遗传变异特征并分析在不同遗传特征下环境危险因素的作用；观测ASD早期发育特征。本项目将阐明在人神经发育关键期的环境危险因素对ASD患病的影响及其氧化还原机制；这些环境危险因素与ASD致病基因遗传变异的关系；提供我国尚缺乏的ASD患儿神经系统发育早期特征的前瞻性人群资料。为探讨ASD病因提供依据，为预防、早期干预和治疗ASD提供直接证据。

The etiology of autism spectrum disorders (ASD), largely restricting the prevention and treatment of the ASD, remains an unsolved global scientific problem. Currently it is widely acknowledged by researchers that genetic combined with environmental factors contribute to the induction of ASD, of which the environmental risk factors during the critical window period are most compelling. However the evident link between this critical window period in neurodevelopment and the genetic variation of ASD is still missing. This study, based on previous research, resorts to the methodology of epidemiological studies and multidisciplinary approaches to investigate the impact of environmental risk factors, including the exposure with endocrine disrupting compounds (EDCs), nutrition, lifestyle and physical and mental health status in fetal and infants, on ASD and its possible mechanism. Meanwhile we aim to examine genetic mutational properties within core families of ASD probands, evaluate the role of environmental risk factors in children with ASD under difference circumstances of genetic characteristics and monitor early developmental characteristics of the children with ASD. This project will not only illustrate the impact of environmental risk factors on the prevalence of ASD during critical neurodevelopmental period and its redox mechanism, which would assist us to clarify the relationship between these environmental risk factors and the genetic variation of ASD, but also provide prospective population data for the early development of nervous system in children with ASD deficiency in China. Therefore this study is significant as it lays the foundation for the exploration of the etiology of ASD and provides direct evidence for prevention, early intervention and treatment of ASD.