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。这些重要信息的主要差距的原因是因为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的、假设驱动的研究将是有力的，也是必不可少的，但却缺失了。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，并对研究人员的沉重要求，以确定，招募，并保持长期接触大量的母亲和婴儿。我们提出了一个不同的前瞻性策略，称为“1年健康婴儿检查方法”，不涉及任何这些限制。因为大多数婴儿在1岁时去看儿科医生，我们建议让60名儿科医生在候诊室给父母一份简短的筛查问卷，即CSBS-DP婴儿幼儿检查表（Wetherby和Prizant，2002），在每一个1岁的健康婴儿检查时。分数超出正常范围的婴儿将被转介到我们进行后续诊断和心理测试。被判断为有自闭症或发育迟缓风险的婴儿将被纵向随访，以确定该程序的成功率。对照受试者将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。被判定为有自闭症或DD风险的婴儿以及对照组将参加两项研究，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特异性免疫显著细胞因子和生长因子的血浆水平。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。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，因为这可能会导致儿科转诊高危婴儿进行定量和客观测试，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.