Centers for Autism & Develop Disabilities Resarch & Epidemiol:A Case-Cohort Study

描述（由申请人提供）：自闭症谱系障碍 (ASD) 是一种严重的、终生的神经发育障碍，会给个人带来相当大的损害，并给家庭带来沉重的负担。人们对自闭症谱系障碍的患病率或相关性知之甚少。关于自闭症谱系障碍患者的表型变异、共病的患病率以及可能与自闭症谱系障碍发展相关的风险因素，几乎没有高质量的信息。自闭症和发育障碍研究及流行病学中心成立于 2001 年，旨在调查自闭症的原因和相关因素。第二个资助周期的重点是开展多中心协作流行病学研究，采用基于人群的病例队列研究设计来调查自闭症谱系障碍 (ASD) 和 ASD 表型亚组的风险和致病因素。六个地点（加利福尼亚州、马里兰州、北卡罗来纳州、宾夕法尼亚州、科罗拉多州和佐治亚州）将在为期 5 年的研究期间合作招收 2700 名儿童及其家人。每个研究中心将包括大约 150 名患有自闭症谱系障碍 (ASD) 的儿童、150 名患有其他神经发育障碍的儿童和 150 名一般人群对照，以解决六个广泛领域的具体假设：1) 自闭症谱系障碍的表型变异，包括核心症状的聚集模式、发病时间、认知状态以及是否存在医学和精神共病； 2) 可能与 ASD 相关的胃肠道特征，3) ASD 个体的候选基因和遗传变异以及它们如何与环境风险因素相互作用，4) 父母感染、免疫功能和自身免疫与 ASD 风险增加相关的可能性，5) 父母激素和生殖特征与 ASD 风险增加相关的可能性，以及 6) 社会人口统计和生活方式因素与 ASD 风险增加相关的可能性。为了实现这些目标，本研究将对儿童进行发育评估，并通过访谈、病历审查和生物样本收集，收集有关儿童及其父母的产前和围产期健康和环境的大量数据。这项针对自闭症谱系障碍的大型研究将提高我们对自闭症与其他残疾和典型发育的表型差异的理解。它还将有助于识别值得更多关注的自闭症潜在风险因素。

DESCRIPTION (provided by applicant): Autism Spectrum Disorders (ASD) are severe, life-long neurodevelopmental disorders that confer considerable impairment to individuals as well as a substantial burden to their families. Little is known about the prevalence or correlates of ASDs. Little high quality information is available regarding the phenotypic variation among individuals with ASDs, prevalence of co-morbid conditions, and risk factors that might be related to the development of ASDs. The Centers for Autism and Developmental Disabilities Research and Epidemiology were established in 2001 to investigate causes and correlates of autism. The focus of this second funding cycle is to conduct a multi-site collaborative epidemiologic study to investigate risk and causal factors for Autism Spectrum Disorders (ASDs) and phenotypic subgroups of ASDs using a population-based case-cohort study design. Six sites (California, Maryland, North Carolina, Pennsylvania, Colorado, and Georgia) will collaborate to enroll 2700 children and their families over the 5-year study period. Each site will include approximately 150 children with ASD, 150 with other neurodevelopmental disorders, and 150 general population controls to address specific hypotheses in six broad domains: 1) phenotypic variation in ASD, including the pattern of clustering of core symptoms, timing of onset, cognitive status, and presence of medical and psychiatric co- morbidities; 2) gastrointestinal features that may be associated with ASD, 3) candidate genes and genetic variation among individuals with ASD and how they interact with environmental risk factors, 4) potential for parental infection, immune function, and autoimmunity to be associated with increased ASD risk, 5) potential for parental hormonal and reproductive characteristics to be associated with increased ASD risk, and 6) potential for sociodemographic and lifestyle factors to be associated with increased ASD risk. To address these goals, this study will conduct developmental assessments on the children and collect extensive data on the pre- and perinatal health and environment of the children and their parents via interviews, medical record review, and the collection of biologic samples. This large study of ASD will improve our understanding of how autism differs phenotypically from other disabilities and from typical development. It will also help identify potential risk factors for autism that deserve more attention.