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

• 批准号: 10294955
• 负责人: HEATHER E VOLK
• 金额: $ 38.67万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 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/10294955
• 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

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.

包括ASD在内的神经发育障碍（NDDS）影响了15％的美国儿童 - 仅自闭症谱系障碍（ASD）就会影响大约1.5％的美国儿童。鉴别 基本原因可能导致初级和二级预防工作。大量证据 支持基因和环境的贡献，尤其是产前暴露。 前瞻性研究，在怀孕期间收集的暴露信息，症状前 发病是迫切需要的，尽管在普通人群中的前瞻性研究不可行，但 成本效益或对ASD的高效。丰富的 - 族风险设计，该设计资源 在ASD儿童的兄弟姐妹中，ASD和NDD的重大风险已经存在 用于实现与合理结果事件的预期数据收集。早 自闭症风险纵向调查（Earli）的研究有助于停产这种丰富的风险 队列方法。 Earli招募并遵循了260多名孕妇 患有多次学习访问，儿童评估，生物采样和家庭环境的ASD的儿童 对怀孕和生命的头三年进行调查。而总样本量受到限制； Earli的值是多个纵向数据和分子测量的深度 组织类型和早期发育窗口。迄今为止，超过94亿数据点已有 跨多种表型，组织，暴露和 - 摩尼克措施产生。电流 提案旨在维护和丰富这项有价值的研究，以充分实现其对 环境健康。目标是：1。维护和扩展Earli BioSample存储库 通过支持存储和检索工作以及脱落乳牙的添加和储存 这将使纵向产前暴露措施能够跨越不断增长的有毒物质 暴露。 2。测量在学龄前新兴的同时发生条件的频率和模式 更好地表征跨同时发生的NDD和定量性状的表型。 3。 表征重金属测量的变异性，家庭成员和 矩阵在内，包括母子血液和尿液以及脱落的乳牙。 4。开发和应用方法 用于表型和使用潜在构建体进行统一的曝光，在内部和交叉中启用 队列调查； 5。迁移，增强和提高伯爵利研究的可重复性 数据以启用数据共享。 Earli研究是早期生活环境的宝贵资产 神经发育结果的流行病学。进行这些目标将使我们能够最大化 这项新研究对ASD和NDD病因的理解的贡献。