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

描述(申请人提供)：缺乏关于12个月大的自闭症的行为数据和生物学数据。在重要信息方面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，被定义和诊断。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强有力的，是必要的，但缺乏。目前，婴儿兄弟姐妹设计是唯一有前景的方法。这种设计很强大，但也有局限性，包括高成本、长期规模、潜在的抽样偏差，以及对研究人员识别、招募和长期与大量母婴保持联系的巨大要求。我们提出了一种不同的前瞻性策略，称为“1年健康婴儿体检法”，它不涉及任何这些限制。因为大多数婴儿在1岁时去看他们的儿科医生，我们建议让60名儿科医生在候诊室中给父母一个简短的筛查问卷，CSBS-DP婴儿学步儿童检查表(Wetherby和Prizant，2002)，在每次1岁健康婴儿检查时。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。将对被判断为有自闭症或发育迟缓(DD)风险的婴儿进行纵向跟踪，以确定该手术的成功率。控制对象将是检查清单上得分在正常范围内的婴儿。这种模式的成功可以对儿科实践产生立竿见影的影响。被判定为自闭症或发育迟缓风险的婴儿以及对照组，将参与两项旨在证明通过这种方法可以获得重要行为和生物信息的研究。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检测特定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，为了解决有关自闭症早期社会兴趣和定位异常的重要问题，我们将使用定量实验程序来调查社会偏好行为和眼神凝视模式。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，因为这将引入儿科转诊高危婴儿进行定量和客观测试的可能性，这有助于更早的诊断和治疗决策。

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.