MD CADDRE: Study to Explore Early Development, SEED Phase II

MD CADDRE：探索早期开发的研究，SEED 第二阶段

• 批准号: 8501229
• 负责人: M Daniele Fallin
• 金额: $ 100万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-07-01 至 2016-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8501229
• 关键词: MD; CADDRE; Study; Explore; Early

DESCRIPTION (provided by applicant): Autism Spectrum Disorders (ASDs) are severe, life-long neurodevelopmental disorders that confer considerable impairment to individuals and a substantial burden to their families and communities. Little is known about the causes or correlates of ASDs. While diagnostic practices are improving ASD identification, relatively little high quality information is available about the phenotypic variation among ASD children, prevalence of co-morbid conditions, and risk factors for ASDs, some of which might be preventable. In response to growing concern as the number of children identified with autism increased, The Children's Health Act of 2000 mandated CDC to establish autism surveillance and research programs that address the magnitude, incidence, and causes of autism and related developmental disabilities. The Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDREs) were established at six national sites (California, Maryland, North Carolina, Pennsylvania, Colorado, and Georgia) to fulfill this mandate and are currently carrying out the Study to Explore Early Development (SEED), a population-based case-control study. SEED will address hypotheses including: ASD phenotypic variation, including the pattern of clustering of core symptoms, timing of onset, cognitive status, and presence of medical and psychiatric co-morbidities; gastrointestinal features; genetic variation and interaction with environmental risk factors (GxE); infection, immune function, and autoimmunity factors; hormonal factors and maternal reproductive characteristics; and sociodemographic and lifestyle factors. Data collection includes developmental assessments and extensive data on the pre- and perinatal health and environment of the children and their parents via interviews, medical record review, self-administered questionnaires, and biologic samples. Data collection is still ongoing, but as of December 2010, SEED had completed data collection on 1435 children and their families - 350 with ASD, 534 with other neurodevelopmental disorders, and 551 population controls. This proposal seeks to carry out SEED Phase II, recruiting another 1080 children in each study group across the national sites to address hypotheses in five domains: 1) ASD phenotype, 2) infection and immune function, including autoimmunity, 3) reproductive and hormonal features, 4) genetic features, and 5) sociodemographic features. The increased combined sample size will enable well-powered assessment of these hypotheses, particularly for phenotypic subgroups and GxE interactions. Given the experience of SEED I and the infrastructure in place at each CADDRE site, SEED II can be quickly implemented, creating a combined SEED sample of clinical, risk factor, and biological specimens and data on over 3600 families. The combined SEED study will be the largest study of ASD of this kind and is poised to make significant contributions to our understanding of the complex autism phenotype and to identify potential risk factors for autism that deserve more detailed attention in clinical and public health practice to reduce the impact of ASDs.

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，并给他们的家庭和社区带来沉重的负担。人们对自闭症谱系障碍的原因或相关性知之甚少。虽然诊断实践正在改善自闭症谱系障碍的识别，但关于自闭症谱系障碍儿童的表型变异、共病的患病率以及自闭症谱系障碍的危险因素的高质量信息相对较少，其中一些可能是可以预防的。随着自闭症儿童数量的增加，人们日益关注这一问题，2000 年《儿童健康法案》授权 CDC 制定自闭症监测和研究计划，以解决自闭症和相关发育障碍的严重程度、发病率和原因。自闭症和发育障碍研究与流行病学中心 (CADDRE) 在六个国家地点（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）成立，以履行这一任务，目前正在开展探索早期发展的研究（ SEED），一项基于人群的病例对照研究。 SEED 将解决以下假设： ASD 表型变异，包括核心症状的聚类模式、发病时间、认知状态以及是否存在医学和精神共病；胃肠道特征；遗传变异及其与环境风险因素的相互作用（GxE）；感染、免疫功能和自身免疫因素；荷尔蒙因素和孕产妇生殖特征；以及社会人口和生活方式因素。数据收集包括通过访谈、病历审查、自填问卷和生物样本对儿童及其父母的产前和围产期健康和环境进行的发育评估和广泛数据。数据收集仍在进行中，但截至 2010 年 12 月，SEED 已完成 1435 名儿童及其家庭的数据收集，其中 350 名患有 ASD，534 名患有其他神经发育障碍，以及 551 名人口对照。该提案旨在开展 SEED 第二阶段，在全国各地的每个研究组中再招募 1080 名儿童，以解决五个领域的假设：1) ASD 表型，2) 感染和免疫功能，包括自身免疫，3) 生殖和激素特征，4) 遗传特征，以及 5) 社会人口特征。增加的组合样本量将使这些假设能够得到强有力的评估，特别是对于表型亚组和 GxE 相互作用。鉴于 SEED I 的经验以及每个 CADDRE 站点现有的基础设施，SEED II 可以快速实施，创建包含 3600 多个家庭的临床、风险因素、生物样本和数据的组合 SEED 样本。联合 SEED 研究将是此类自闭症谱系障碍 (ASD) 领域规模最大的研究，有望为我们了解复杂的自闭症表型做出重大贡献，并确定自闭症的潜在危险因素，这些因素值得在临床和公共卫生实践中得到更详细的关注，以减少自闭症的发生。 ASD 的影响。