CLINICAL PHENOTYPE: RECRUITMENT AND ASSESMENT CORE

我们的自闭症卓越中心(ACE)旨在发现与早期大脑相关的机制 自闭症的过度生长和确定与高危婴儿相关的特定行为和生物因素 为这一障碍负责。这些目标只有在对自闭症进行前瞻性研究的情况下才能实现。目前，唯一的 未来使用的策略是婴儿兄弟姐妹设计。不幸的是，婴儿-兄弟姐妹的方法被权衡了 由于沉重的研究成本，识别和跟踪病例的时间较长，仅将自闭症代表为 它发生在多个家庭中。 临床表型：招募和评估核心(CPRAC)将实施不同的战略， 被称为一年健康婴儿体检方法，以识别和研究有ASD风险的婴儿 未雨绸缪。如初步结果部分所示，此方法具有识别风险的潜力 病例迅速，而且只需婴儿同胞研究费用的一小部分。重要的是，这种不偏不倚的方法将 从单胞胎和多胞胎家庭中找出自闭症病例，这样可以更真实地代表 自闭症的人群。这种方法将允许有ASD风险的婴儿以及有ASD风险的婴儿 发育障碍(DD)参与核磁共振(项目1)、功能核磁共振(项目2)和基因研究 (项目3和4)从12个月开始。CPRAC还将使用相同的方法招募， 年龄、性别和种族匹配的典型对照。因此，CPRAC将共招募3个学习小组： 高危ASD、高危DD和典型。 CPRAC还将使用标准化的临床和 在社会、认知、语言和探索行为的一般领域进行实验测量。 婴儿还将接受彻底的身体和神经检查，并采集血液样本 通过CPRAC服务。CPRAC将对婴儿进行纵向跟踪，并每隔一年收集选定的研究数据 6个月，直到每个参与者满三岁。 CPRAC调查员将实施评估质量控制，坚持所有研究课题 包括HIPAA在内的保护指南。 总而言之，CPRAC将负责：1)识别和招募12个月大的婴儿； 2)每6个月对研究婴儿进行诊断和心理测量评估3)每个婴儿的协调 参与项目1-4；4)当每个参与者年满三岁时进行最终诊断。中巴合作伙伴关系委员会也将 负责知情同意并确保遵守当前的临床和研究标准 准则，包括HIPAA。CPRAC还将在每个项目上与调查人员密切合作，因为 其他核心也是如此。

Our Autism Center of Excellence (ACE) aims to discover the mechanisms related to early brain overgrowth in autism and to define specific behavioral and biological factors associated with infants at-risk for the disorder. These goals can only be achieved if autism is studied prospectively. Currently, the only prospective strategy in use is the baby-sibling design. Unfortunately, the baby-sib approach is weighed down by heavy research costs, long time frames to identify and follow cases, and only represents autism as it occurs in multiplex families. The Clinical Phenotype: Recruitment and Assessment Core (CPRAC) will implement a different strategy, called the 1-Year Well-Baby Check-Up Approach, to identify and study infants at risk for an ASD prospectively. As shown in the preliminary results section, this approach has the potential to identify at-risk cases quickly, and for a fraction of the cost of baby-sib research. Importantly, this unbiased approach will identify ASD cases from singleton and multiplex families alike, and as such may more realistically represent the population of autism. This method will allow infants at-risk for an ASD as well as those at-risk for a developmental disorder (DD) to participate in MRI (Project 1), fMRI (Project 2) and genetic research studies (Projects 3 and 4) beginning at 12-months in age. The CPRAC will also recruit, using the same approach, age, gender and ethnicity-matched typical controls. Thus, the CPRAC will recruit a total of 3 study groups: at-risk ASD, at-risk DD, and typical. The CPRAC will also thoroughly characterize each study infant using standardized clinical and experimental measures in the general areas of social, cognitive, language, and exploration behavior. Infants will also receive a thorough physical and neurological examination and have blood samples collected through CPRAC services. The CPRAC will follow infants longitudinally and collect selected study data every 6 months until each participant turns three years old. CPRAC investigators will implement quality control of assessments and adhere to all research subject protection guidelines including HIPAA. In summary, the CPRAC will be responsible for: 1) identification and recruitment of 12-month old infants; 2) diagnostic and psychometric evaluations of study infants every 6 months 3) coordination of each infant's participation in Projects 1-4; 4) final diagnoses when each participant turns three. The CPRAC will also be responsible for informed consent and ensuring compliance with current clinical and research standards and guidelines, including HIPAA. The CPRAC will also work closely with investigators on each of the projects, as well as the other Cores.