Expanding the Value of the EARLI study: Small Cohort with Big Data

扩大 EARLI 研究的价值：小队列与大数据

基本信息

批准号：
10087931
负责人：
M Daniele Fallin
金额：
$ 39.35万
依托单位：
JOHNS HOPKINS UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2020
资助国家：
美国
起止时间：
2020-01-24 至 2024-10-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10087931
关键词：
Address Affect Aliquot Big Data Biological Biological Assay Biological Specimen Banks Blood California Child Child Development Child Health Code Collaborations Collection Communities Data Data Analytics Data Collection Data Science Databases Development Environment Environmental Epidemiology Environmental Exposure Environmental Health Environmental Risk Factor Etiology Event Family member Frequencies General Population Genes Goals Hair Heavy Metals Home environment Information Systems Infrastructure Investigation Lead Life Life Cycle Stages Maintenance Measurement Measures Medical Medical Records Methods Molecular Molecular Epidemiology Neurodevelopmental Disability Neurodevelopmental Disorder Outcome Pathway interactions Pattern Phenotype Placenta Play Population Study Pregnancy Pregnant Women Prevalence Prevention Primary Prevention Prospective Studies Protocols documentation Recurrence Reproducibility Research Research Design Resources Retrieval Risk Risk Factors Role Sample Size Sampling School-Age Population Secondary Prevention Seminal fluid Siblings Social Interaction Surveys Symptoms Time Tissues Tooth structure Toxicant exposure Umbilical Cord Blood Universities Urine Visit autism spectrum disorder autistic children cohort comorbidity cost cost effective data harmonization data management data sharing deciduous tooth design disability disorder prevention early childhood innovation method development modifiable risk novel phenotypic data prenatal prenatal exposure prospective recruit social communication trait

项目摘要

Neurodevelopmental disorders (NDDs), including ASD, affect over 15 percent of US children – Autism Spectrum Disorder (ASD) alone affects approximately 1.5% of US children. Identification of underlying causes can lead to primary and secondary prevention efforts. Substantial evidence supports contribution of both genes and environment, particularly prenatal exposures. Prospective studies, with exposure information collected during pregnancy, prior to symptom onset, are sorely needed although prospective studies in the general population are not feasible, cost effective, or efficient for ASD. The enriched-familial-risk design, which capitalizes on the substantial recurrence risk of both ASD and NDD among siblings of children with ASD, has been employed to achieve prospective data collection with reasonable outcome events. The Early Autism Risk Longitudinal Investigation (EARLI) study has helped to trailblaze this enriched risk cohort approach. EARLI recruited and followed over 260 pregnant women who already had a child with ASD with multiple study visits, child assessments, biosampling, and home environment surveys over pregnancy and the first 3 years of life. While the total sample size was constrained; the value of EARLI is the depth of longitudinal data and molecular measurements across multiple tissue types and early developmental windows. To date, over 9.4 billion data points have been generated across multiple phenotypes, tissues, exposures, and -omic measures. The current proposal seeks to maintain and enrich this valuable study to fully realize its impact on environmental health. The goals are to: 1. Maintain and extend the EARLI Biosample Repository through support of the storage and retrieval efforts and addition and storage of shed baby teeth that will enable longitudinal prenatal exposure measures across a growing array of toxicant exposures. 2. Measure frequency and patterns of emerging co-occurring conditions at school age to better characterize phenotypes across co-occurring NDDs and quantitative traits. 3. Characterize variability of heavy metals measurement across timing, family members, and matrices including maternal blood and urine and shed baby teeth. 4. Develop and apply methods for phenotype and for exposure harmonization using latent constructs, enabling within and cross- cohort investigations; 5. Migrate, enhance, and increase the reproducibility of EARLI research data to enable data sharing. The EARLI study is a valuable asset to early life environmental epidemiology of neurodevelopmental outcomes. Conducting these aims will allow us to maximize the contribution of this novel study to the understanding of ASD and NDD etiology.

神经发育障碍 (NDD)，包括自闭症谱系障碍 (ASD)，影响着超过 15% 的美国儿童 – 仅自闭症谱系障碍 (ASD) 就影响了大约 1.5% 的美国儿童。根本原因的发现可以导致一级和二级预防工作的开展。支持基因和环境的贡献，特别是产前暴露。前瞻性研究，在怀孕期间、出现症状之前收集暴露信息尽管在一般人群中进行前瞻性研究不可行，但迫切需要具有成本效益，或者说对自闭症谱系障碍（ASD）来说是高效的丰富的家族风险设计，充分利用了 ASD 儿童的兄弟姐妹中 ASD 和 NDD 的复发风险很高用于实现具有合理结果事件的前瞻性数据收集。自闭症风险纵向调查（EARLI）研究有助于开拓这种丰富的风险 EARLI 招募并跟踪了 260 多名已经怀孕的孕妇。对患有 ASD 的儿童进行多次研究访问、儿童评估、生物采样和家庭环境对怀孕和生命前 3 年的调查，但总样本量受到限制； EARLI 的值是跨多个纵向数据和分子测量的深度迄今为止，已有超过 94 亿个数据点。跨多种表型、组织、暴露和组学测量产生。该提案旨在维持和丰富这项有价值的研究，以充分认识其对目标是： 1. 维护和扩展 EARLI 生物样本存储库。通过支持存储和检索工作以及脱落乳牙的添加和存储这将使针对越来越多的有毒物质采取纵向产前暴露措施成为可能 2. 测量学龄期出现的同时出现的情况的频率和模式。更好地表征同时发生的 NDD 和数量性状的表型 3. 描述重金属测量随时间、家庭成员和时间的变化的特征基质，包括母体血液和尿液以及脱落的乳牙 4. 开发和应用方法。使用潜在结构实现表型和暴露协调，从而实现内部和交叉 5. 迁移、增强和提高 EARLI 研究的可重复性 EARLI 研究是早期生命环境的宝贵资产。实现这些目标将使我们能够最大限度地发挥神经发育结果的流行病学作用。这项新颖的研究对理解 ASD 和 NDD 病因学的贡献。