Component A: CADDRE: Study to Explore Early Development (SEED) 3

项目摘要 自闭症谱系障碍（ASD）是一种神经发育障碍，可导致严重的终身障碍 对于受影响的个人。ASD的患病率在全世界范围内都有增加的记录， 由于需要大量的家庭和社会资源来提供 为受影响的人提供长期服务。关于ASD的原因还有很多有待发现， 包括其发生和表现的风险和保护因素，以及表型变异 和共同发生的条件，以及这些如何相互作用，在受ASD影响的人。为了应对日益增长的公众 2000年的《儿童健康法》授权CDC建立ASD监测和研究 解决ASD和相关发育障碍的程度，发病率和原因的计划。 自闭症和发育障碍研究与流行病学中心（CADDREs） 在六个国家站点（加州、科罗拉多、格鲁吉亚、马里兰州、北卡罗来纳州和宾夕法尼亚州）建立， 我们现正进行第二阶段的早期发展研究， （SEED），一项基于人群的病例对照研究。SEED的目的是检查ASD表型 变异，包括核心症状、认知状态和合并症的聚集;遗传 变异和基因-环境相互作用（GxE）;以及感染、免疫功能、自身免疫、激素 可能影响ASD发生或表现的因素和母体生殖特征。数据 SEED的收集包括通过标准化工具和预 围产期健康和环境，通过访谈，医疗记录审查，自我管理的问卷调查， 生物样本截至2015年12月，SEED 1和2已经完成了4652个家庭的数据收集，其中1341个家庭 1722例ASD患者，1722例其他发育障碍患者，1589例普通人群对照。这项建议 寻求进行种子3，招收625名儿童在每个研究组。组合更大 样本量将使SEED假设的评估具有良好的效力，特别是对于表型亚组 和GxE相互作用。考虑到科罗拉多和其他CADDRE站点的基础设施， 成功实施SEED 1和2的丰富经验，SEED 3可以在科罗拉多快速实施 在整个网络中，创建一个临床、风险因素和生物学的综合SEED样本， 超过6500个家庭的标本和数据。SEED将是同类ASD中最大的研究， 对我们理解复杂自闭症表型和识别潜在风险做出了重大贡献 和ASD的保护因素，以告知未来干预和治疗的发展。

Project Summary Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that can cause severe lifelong impairment for affected individuals. An increase in the prevalence of ASD has been documented worldwide, which has major public health implications because of the substantial familial and societal resources required to provide long-term services to those who are affected. Much remains to be discovered about the causes of ASD, including risk and protective factors for its occurrence and presentation, as well as about phenotypic variations and co-occurring conditions, and how these interact, in persons affected by ASD. In response to growing public health concerns, the Children's Health Act of 2000 mandated CDC to establish ASD surveillance and research programs that address the magnitude, incidence, and causes of ASD and related developmental disabilities. The Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDREs) were established at six national sites (California, Colorado, Georgia, Maryland, North Carolina, and Pennsylvania) to fulfill this mandate and are currently carrying out the second phase of the Study to Explore Early Development (SEED), a population-based case-control study. The objectives of SEED are to examine ASD phenotypic variation, including clustering of core symptoms, cognitive status, and presence of co-morbidities; genetic variation and gene-environment interaction (GxE); and infection, immune function, autoimmunity, hormonal factors and maternal reproductive characteristics that may influence ASD occurrence or presentation. Data collection for SEED includes assessments of development through standardized instruments and pre- and perinatal health and environment via interviews, medical record review, self-administered questionnaires, and biologic samples. As of December 2015, SEED 1 & 2 had completed data collection on 4652 families - 1341 with ASD, 1722 with other developmental disorders, and 1589 general population controls. This proposal seeks to carry out SEED 3, enrolling 625 additional children in each study group. The combined greater sample size will enable well-powered assessment of SEED hypotheses, particularly for phenotypic subgroups and GxE interactions. Given the infrastructure in place at Colorado and the other CADDRE sites, and their extensive experience successfully implementing SEED 1 & 2, SEED 3 can be quickly implemented in Colorado and throughout the network, creating a combined SEED sample of clinical, risk factor, and biological specimens and data on over 6500 families. SEED will be the largest study of ASD of its kind, making significant contributions to our understanding of the complex autism phenotype and identifying potential risk and protective factors for ASD to inform future development of interventions and treatments.