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

组件 A：CADDRE：探索早期发展的研究 (SEED) 3

• 批准号: 9222984
• 负责人: CORDELIA ROBINSON
• 金额: $ 71万
• 依托单位: UNIVERSITY OF COLORADO DENVER
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-07-01 至 2021-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9222984
• 关键词: Component; CADDRE; Study; Explore; Early

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.

项目摘要 自闭症谱系障碍（ASD）是一种神经发育障碍，可能导致严重的终身障碍 适用于受影响的个体。在全球范围内，ASD的患病率提高已有 由于提供的大量家庭和社会资源需要提供的主要公共卫生影响 为受影响的人提供长期服务。关于ASD的原因，还有很多要发现的 包括其发生和表现的风险和保护因素，以及表型变化 以及同时发生的条件，以及它们如何相互作用，在受ASD影响的人中。回应不断增长的公众 健康问题，《 2000年儿童健康法》要求CDC建立ASD监视和研究 解决ASD和相关发育障碍的大小，发病率和原因的程序。 自闭症与发育障碍中心研究与流行病学（Caddres）是 在六个国家地点（加利福尼亚，科罗拉多州，乔治亚州，马里兰州，北卡罗来纳州和宾夕法尼亚州）成立至 履行这一任务，目前正在进行研究的第二阶段以探索早期发展 （种子），一项基于人群的病例对照研究。种子的目标是检查ASD表型 变异，包括核心症状的聚类，认知状况以及合并症的存在；遗传 变异和基因环境相互作用（GXE）；和感染，免疫功能，自身免疫性，荷尔蒙 可能影响ASD发生或表现的因素和母体生殖特征。数据 种子收集包括通过标准化工具以及前和 通过访谈，医疗记录审查，自我管理问卷调查以及 生物样品。截至2015年12月，种子1和2已完成4652个家庭的数据收集-1341 ASD为1722年，患有其他发育障碍，1589个普通人群控制。这个建议 寻求执行种子3，在每个研究组中招募625名其他儿童。总和更大 样本量将对种子假设进行良好的驱动评估，特别是对于表型亚组 和GXE相互作用。考虑到科罗拉多州和其他卡德尔站点的基础设施，他们 在科罗拉多州成功实施种子1和2成功实施种子1和种子3的丰富经验 在整个网络中，创建了临床，危险因素和生物学的组合种子样本 超过6500个家庭的标本和数据。种子将是同类ASD的最大研究，使 对我们对复杂自闭症表型的理解和确定潜在风险的重要贡献 以及ASD为未来开发干预措施和治疗的保护因素。