Component A: MD CADDRE: Study to Explore Early Development, SEED Phase III

组件 A：MD CADDRE：探索早期开发的研究，SEED 第三阶段

• 批准号: 9310224
• 负责人: M Daniele Fallin
• 金额: $ 110万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 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/9310224
• 关键词: Component; MD; CADDRE; Study; Explore

Autism Spectrum Disorder (ASD) is a severe, life-long neurodevelopmental disorder that is associated with considerable impairment for individuals and a substantial burden to their families and communities. Little is known about the causes or correlates of ASD. While diagnostic practices are improving ASD identification, much remains to be discovered about risk and protective factors for ASD and about the phenotypic variation and prevalence of co-morbid conditions. In response to growing 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. SEED addresses hypotheses including: ASD phenotypic variation, including clustering of core symptoms, cognitive status, and presence of co-morbidities; gastrointestinal features; genetic variation and gene-environment interaction (GxE); infection, immune function, and autoimmunity factors; and hormonal factors and maternal reproductive characteristics. Data collection includes developmental assessments 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 controls. This proposal seeks to carry out SEED 3, collecting another 625 children in each study group. This increased, combined sample size will enable well-powered assessment of SEED hypotheses, particularly for phenotypic subgroups and GxE interactions. Given the experience of SEED 1 & 2 and the infrastructure in place at each CADDRE site, SEED 3 can be quickly implemented, creating a combined SEED sample of clinical, risk factor, and biological specimens and data on over 6500 families. SEED would be the largest study of ASD of this kind, making significant contributions to our understanding of the complex autism phenotype and identifying potential risk and protective factors for ASD.

自闭症谱系障碍（ASD）是一种严重的终身神经发育障碍，与 对个人和家人和社区的巨大燃烧造成了巨大损害。几乎没有 知道ASD的原因或相关性。虽然诊断实践正在改善ASD识别，但 关于ASD和表型变化的风险和受保护因素还有很多尚待发现 并发生合并条件的患病率。为了应对日益严重的关注，《 2000年儿童健康法》 要求CDC建立ASD监视和研究计划，以解决大小，事件， 和ASD和相关发育障碍的原因。自闭症和发育中心 残疾研究和流行病学（CADDRES）是在六个国家（加利福尼亚州）建立的 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），以实现这一任务 进行研究的第二阶段以探索早期发展（种子），这是一种基于人群的病例 - 控制研究。种子解决了假设，包括：ASD表型变异，包括核心的聚类 症状，认知状况和合并症的存在；胃肠道特征；遗传变异和 基因环境相互作用（GXE）；感染，免疫功能和自身免疫因素；和马 因素和母体生殖特征。数据收集包括发展评估， 通过访谈，病历审查，自我管理的前和围产期健康与环境 问卷和生物样品。截至2015年12月，种子1和2已完成数据收集 4652个家庭-1341与ASD，1722年其他发育障碍和1589个对照。这个建议 试图执行种子3，在每个研究组中收集另外625名儿童。这增加了，结合了 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。鉴于种子1和2的经验以及每个卡德尔的基础设施 站点，种子3可以快速实施，创建临床，危险因素和 关于6500多个家庭的生物标本和数据。种子将是此类ASD的最大研究， 为我们对复杂自闭症表型的理解做出重大贡献 确定潜在的风险和保护ASD的因素。