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，终身的神经发育障碍，对个人造成相当大的损害，并对其家庭和社区造成重大负担。关于ASD的原因或相关因素知之甚少。虽然诊断实践正在改善ASD识别，但关于ASD儿童的表型变异，共病状况的患病率以及ASD的风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，人们对自闭症的关注日益增加，2000年的《儿童健康法》授权CDC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程度、发病率和原因。为了完成这项任务，在六个国家地点（加州、马里兰州、北卡罗来纳州、宾夕法尼亚州、科罗拉多和格鲁吉亚）建立了自闭症和发育障碍研究与流行病学中心（CADDREs），目前正在开展探索早期发育研究（SEED），这是一项基于人群的病例对照研究。SEED将解决的假设包括：ASD表型变异，包括核心症状的聚集模式，发病时间，认知状态，以及存在的医疗和精神共病;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素;激素因素和孕产妇生殖特征;和社会人口和生活方式因素。数据收集包括发育评估和广泛的数据，通过访谈，医疗记录审查，自我管理的问卷调查和生物样本的产前和围产期的健康和环境的儿童和他们的父母。数据收集仍在进行中，但截至2010年12月，SEED已经完成了1435名儿童及其家庭的数据收集- 350名ASD患者，534名其他神经发育障碍患者和551名人群对照。该提案旨在开展SEED II期，在全国各地的每个研究组中招募另外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。合并样本量的增加将使这些假设的评估具有良好的把握度，特别是对于表型亚组和GxE相互作用。鉴于SEED I的经验和每个CADDRE站点的基础设施，SEED II可以快速实施，创建超过3600个家庭的临床，风险因素和生物样本和数据的综合SEED样本。合并后的SEED研究将是此类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，这些因素值得在临床和公共卫生实践中更详细地关注，以减少ASD的影响。