Studying the Biology and Behavior of Autism at 1-Year: The Well-Baby Check-Up App

描述（由申请人提供）：缺乏关于12个月大自闭症的行为数据和生物学数据。在重要信息上存在这些重大差距的原因是，自闭症仍然是行为上的，而不是生物学上的，定义和诊断。对自闭症婴儿的行为和生物学进行前瞻性、假设驱动的研究将是强有力的，也是必不可少的，但目前还缺乏。目前，婴儿同胞设计是唯一使用的前瞻性方法。这种设计是强大的，但也有局限性，包括高成本、长时间的规模、潜在的抽样偏差，以及研究者需要识别、招募和保持与大量母亲和婴儿的长期联系。我们提出了一种不同的前瞻性策略，称为“1年健康婴儿检查方法”，它不涉及任何这些限制。由于大多数婴儿在1岁时看儿科医生，我们建议让60名儿科医生在候诊室向父母提供一份简短的筛查问卷，即CSBS-DP婴幼儿检查表（Wetherby and Prizant, 2002），在每1岁的婴儿健康检查中。得分超出正常范围的婴儿将被转介给我们进行后续诊断和心理测试。被判定有自闭症或发育迟缓（DD）风险的婴儿将被纵向跟踪，以确定该程序的成功率。对照对象是在检查表上得分在正常范围内的婴儿。这种模式方法的成功可以对儿科实践产生直接影响。被判定有自闭症或发育障碍风险的婴儿，以及对照组，将参与两项研究，旨在证明通过这种方法可以获得重要的行为和生物学信息。在一项研究中，为了解决自闭症早期免疫异常的重要问题，我们将使用最先进的方法来测定血浆中特定免疫重要细胞因子和生长因子的水平。在第二项研究中，为了解决自闭症早期社会兴趣和定向异常的重要问题，我们将使用定量实验程序来调查社会偏好行为和眼睛注视模式。7.在12个月大时成功识别自闭症的生物学和行为特征将产生重大影响，因为这将为高风险婴儿的儿科转诊提供可能，使其能够进行定量和客观的测试，从而有助于早期诊断和治疗决策。

DESCRIPTION (provided by applicant): There is a paucity of behavioral data and an absence of biological data on autism at 12 months of age. The reason for these major gaps in vital information is because autism remains behaviorally, not biologically, defined and diagnosed. Prospective, hypothesis- driven studies of behavior and biology in autistic infants would be powerful and are essential, but are missing. Currently, the infant sibling design is the only prospective approach in use. This design is strong but also has limitations including high costs, long-time scale, potential for sampling bias, and the heavy demands on the researcher to identify, recruit, and maintain contact long-term with large numbers of mothers and infants. We propose a different prospective strategy, called the "1-Year Well Baby Check-Up Approach", that does not involve any of these limitations. Because most babies see their pediatrician at 1 year, we propose to have 60 pediatricians give a brief screening questionnaire to parents while in the waiting room, the CSBS-DP Infant Toddler Checklist (Wetherby and Prizant, 2002), at every 1-year well baby check-up. Infants whose scores fall outside of the normal range will be referred to us for follow-up diagnostic and psychometric testing. Babies judged to be at-risk for autism or developmental delay (DD) will be followed longitudinally to determine the success rate of this procedure. Control subjects will be babies who score within the normal range on the checklist. Success of this model approach can have an immediate impact on pediatric practice. Babies judged to be at-risk for autism or DD, as well as controls, will participate in two studies aimed at demonstrating that important behavioral and biological information can be obtained via this approach. In one study, to address the important question of immunological abnormality in autism early in life, we will use state- of-the-art methods to assay plasma levels of specific immune significant cytokines and growth factors. In the second study, to address important questions about early social interest and orienting abnormalities in autism, we will use a quantitative experimental procedure for investigating social preference behavior and eye gaze patterns. Successful identification of biological and behavioral features of autism at 12 months of age will have a major impact by introducing the possibility of pediatric referral of high risk infants for quantitative and objective tests that can aid in earlier diagnostic and treatment decisions.7.