Department of Public Health Sciences, School of Medicine, University of California Davis (UC Davis), Davis, California, USA.
UC Davis MIND (Medical Investigations of Neurodevelopmental Disorders) Institute, UC Davis, Davis, California, USA.
Environ Health Perspect. 2018 Nov;126(11):117004. doi: 10.1289/EHP535.
Until recently, environmental factors in autism spectrum disorder (ASD) were largely ignored. Over the last decade, altered risks from lifestyle, medical, chemical, and other factors have emerged through various study designs: whole population cohorts linked to diagnostic and/or exposure-related databases, large case-control studies, and smaller cohorts of children at elevated risk for ASD.
This study aimed to introduce the MARBLES (Markers of Autism Risk in Babies-Learning Early Signs) prospective study and its goals, motivate the enhanced-risk cohort design, describe protocols and main exposures of interest, and present initial descriptive results for the study population.
Families having one or more previous child with ASD were contacted before or during a pregnancy, and once the woman became pregnant, were invited to enroll. Data and biological samples were collected throughout pregnancy, at birth, and until the child's third birthday. Neurodevelopment was assessed longitudinally. The study began enrolling in 2006 and is ongoing.
As of 30 June 2018, 463 pregnant mothers have enrolled. Most mothers ([Formula: see text]) were thirty years of age or over, including 7.9% who are fourty years of age or over. The sample includes 22% Hispanic and another 25% nonHispanic Black, Asian, or multiracial participants; 24% were born outside the United States. Retention is high: 84% of participants whose pregnancies did not end in miscarriage completed the study or are still currently active. Among children evaluated at 36 months of age, 24% met criteria for ASD, and another 25% were assessed as nonASD nontypical development.
Few environmental studies of ASD prospectively obtain early-life exposure measurements. The MARBLES study fills this gap with extensive data and specimen collection beginning in pregnancy and has achieved excellent retention in an ethnically diverse study population. The 24% familial recurrence risk is consistent with recent reported risks observed in large samples of siblings of children diagnosed with ASD. https://doi.org/10.1289/EHP535.
直到最近，自闭症谱系障碍（ASD）中的环境因素在很大程度上仍被忽视。在过去的十年中，通过各种研究设计，出现了来自生活方式、医疗、化学和其他因素的改变风险：与诊断和/或暴露相关的数据库相链接的全人群队列、大型病例对照研究以及自闭症风险升高的儿童的较小队列。
本研究旨在介绍 MARBLES（婴儿自闭症风险标志物-早期学习迹象）前瞻性研究及其目标，激发增强风险队列设计，描述感兴趣的方案和主要暴露因素，并呈现研究人群的初始描述性结果。
在怀孕前或怀孕期间联系有一个或多个先前患有 ASD 的孩子的家庭，一旦女性怀孕，就邀请她们参加。在整个怀孕期间、分娩时和孩子三岁生日之前收集数据和生物样本。神经发育进行纵向评估。该研究于 2006 年开始招募，并正在进行中。
截至 2018 年 6 月 30 日，已有 463 名孕妇入组。大多数母亲（[公式：见文本]）年龄在三十岁或以上，其中 7.9%的年龄在四十岁或以上。该样本包括 22%的西班牙裔和另外 25%的非西班牙裔黑种人、亚洲人或多种族参与者；24%的人出生在美国以外。保留率很高：84%的怀孕未流产的参与者完成了研究或仍在积极参与。在 36 个月龄评估的儿童中，24%符合 ASD 标准，另有 25%被评估为非 ASD 非典型发育。
很少有前瞻性 ASD 环境研究获得早期生命暴露测量。MARBLES 研究通过从怀孕开始的广泛数据和样本收集填补了这一空白，并在一个种族多样化的研究人群中实现了出色的保留率。24%的家族复发风险与最近在诊断为 ASD 的儿童的兄弟姐妹的大样本中观察到的风险一致。https://doi.org/10.1289/EHP535.
