NC CADDRE: Study to Explore Early Development (SEED) Phase II

NC CADDRE：探索早期开发 (SEED) 第二阶段的研究

• 批准号: 8876363
• 负责人: Julie L Daniels
• 金额: $ 90万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 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 2017-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8876363
• 关键词: NC; 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）是严重的，终生的神经发育障碍，给个人带来了很大的损害，并给家人和社区带来了重大负担。关于ASD的原因或相关性知之甚少。尽管诊断实践正在改善ASD识别，但有关ASD儿童之间表型变化的相对较少的高质量信息，合并症的患病率以及ASD的危险因素，其中一些可能是可以预防的。为了应对自闭症的儿童人数的增加，2000年《儿童健康法》规定了疾病预防控制中心的儿童健康法，以建立自闭症监测和研究计划，以解决自闭症和相关发育障碍的大小，发病率和原因。自闭症和发育障碍中心研究与流行病学中心（CADDRES）是在六个国家（加利福尼亚州，马里兰州，北卡罗来纳州，宾夕法尼亚州，科罗拉多州和乔治亚州）建立的，以履行这项任务，目前正在进行研究以探索早期发展（种子），一项基于人群的病例病例研究。种子将提出假设，包括：ASD表型变异，包括核心症状的聚类模式，发作时间，认知状况以及医学和精神病合并症的存在；胃肠道特征；遗传变异和与环境风险因素（GXE）的相互作用；感染，免疫功能和自身免疫因子；荷尔蒙因子和母体生殖特征；以及社会人口统计学和生活方式因素。数据收集包括通过访谈，医疗记录审查，自我管理的问卷和生物样本的儿童及其父母的前和围产期健康和环境的发展评估和大量数据。数据收集仍在进行中，但是截至2010年12月，种子已经完成了1435名儿童及其家人的数据收集-350 ASD，534，其他神经发育障碍和551个人口控制。该提案试图进行种子II期，在每个研究组中招募另外1080名儿童，以解决五个领域中的假设：1）ASD表型，2）感染和免疫功能，包括自身免疫性，3）生殖和激素特征，4）遗传特征，以及5）遗传学特征。增加的样本量增加将能够对这些假设进行良好的评估，特别是对于表型亚组和GXE相互作用。鉴于种子I和每个Caddre地点的基础设施的经验，可以快速实施种子II，从而创建临床，危险因素和生物标本的组合种子样本以及有关3600多个家庭的数据。合并的种子研究将是对此类ASD的最大研究，并有望为我们对复杂自闭症表型的理解做出重大贡献，并确定自闭症的潜在风险因素，在临床和公共卫生实践中应更详细的关注以减少ASD的影响。