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、终生的神经发育障碍，与 对个人造成相当大的损害，对其家庭和社区造成沉重负担。小的是 了解 ASD 的原因或相关因素。虽然诊断实践正在改善 ASD 识别， 关于自闭症谱系障碍的风险和保护因素以及表型变异还有很多有待发现 以及合并症的患病率。为了回应日益增长的担忧，2000 年儿童健康法案 授权 CDC 制定自闭症谱系障碍 (ASD) 监测和研究计划，以解决自闭症谱系障碍 (ASD) 的严重程度、发生率、 自闭症谱系障碍 (ASD) 和相关发育障碍的原因。自闭症和发展中心 残疾人研究和流行病学 (CADDRE) 在六个国家站点（加利福尼亚州、 科罗拉多州、佐治亚州、马里兰州、北卡罗来纳州和宾夕法尼亚州）来完成这项任务，目前正在 开展探索早期发展研究（SEED）的第二阶段，这是一个基于人群的案例- 对照研究。 SEED 提出的假设包括： ASD 表型变异，包括核心聚类 症状、认知状态和合并症的存在；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；和荷尔蒙 因素和孕产妇生殖特征。数据收集包括发育评估和 通过访谈、病历审查、自我管理了解产前和围产期健康和环境 问卷和生物样本。截至 2015 年 12 月，SEED 1 和 2 已完成以下方面的数据收集 4652 个家庭，其中 1341 个患有自闭症谱系障碍，1722 个患有其他发育障碍，以及 1589 个对照。这个提议 寻求开展 SEED 3，每个研究组另外收集 625 名儿童。这增加了，合并 样本量将使 SEED 假设能够得到强有力的评估，特别是对于表型亚组 和 GxE 交互。鉴于 SEED 1 和 2 的经验以及每个 CADDRE 的基础设施 现场，SEED 3 可以快速实施，创建临床、风险因素和风险因素的组合 SEED 样本 超过 6500 个家庭的生物样本和数据。 SEED 将是此类自闭症谱系障碍 (ASD) 中最大规模的研究， 为我们理解复杂的自闭症表型做出了重大贡献 识别 ASD 的潜在风险和保护因素。