Infants at Risk for Autism Spectrum Disorders or Language Delay

描述（由申请人提供）：自闭症谱系障碍（ASD）和特殊语言障碍（SLI）都是复杂的障碍，涉及语言方面的原发性障碍，通常是根据幼儿或学龄前时期出现的行为症状来诊断的。双胞胎和家庭研究表明，自闭症谱系障碍和特殊语言障碍的遗传率都很高，这些研究的证据表明，这些疾病之间存在重叠，表明部分共同的病因。对于被诊断为ASD和SLI的儿童，结果有相当大的差异，特别是在语言和社交障碍的严重程度上。提出探索性研究计划的主要目标是开发一种新的方法方法，以确定6至12个月之间ASD和SLI的早期语言和沟通发展的风险和早期过程的最早预测因素。建议对ASD和SLI高危婴儿进行纵向前瞻性研究。将招募100名患有ASD （N=50）或SLI （N=50）的先证者的高风险婴儿兄弟姐妹，以及低风险的兄弟姐妹对照（N=30），并从6至18个月大进行随访，此时将进行ASD和语言延迟的临时评估。我们的目标是使用新颖的结构化父母数据收集方法获得密集的婴儿发展的家庭日记记录，包括婴儿的详细日记和录像带，这些日记和录像带将被编码为早期声音，语言和社会交际行为的出现。这些日记将在6个月、12个月和18个月时辅以以实验室为基础的标准评估。分析将集中在比较两个高风险的兄弟姐妹群体，以及在关键发育里程碑的出现时间和异常行为的出现方面的控制。这项研究项目的发现将导致新的临床有用方法的发展，用于诊断和评估婴儿期的ASD和SLI，这些方法可以在社区环境中实施。早期诊断这些疾病的高风险被认为是改善ASD和SLI儿童预后的关键一步，因为这将为早期进入已知可导致更好结果的干预措施打开大门。

DESCRIPTION (provided by applicant): Autism spectrum disorders (ASD) and specific language impairment (SLI) are both complex disorders that involve primary impairments in language that are usually diagnosed on the basis of emerging behavioral symptoms during the toddler or preschool period. Twin and family studies have demonstrated high heritability estimates for both ASD and SLI and there is evidence from these studies for overlap among these disorders, suggesting partially shared etiology. For children diagnosed with ASD and SLI there is considerable variability in outcomes, especially in the severity of language and social-communication impairments. The main goal of the proposed exploratory research program is to develop a new methodological approach for identifying the earliest predictors of risk and early course of language and communication development for ASD and SLI between the ages of 6 and 12 months. A longitudinal prospective study of infants at high risk for ASD and SLI is proposed. 100 high risk infant siblings of probands with either ASD (N=50) or SLI (N=50), as well as low-risk sibling controls (N=30) will be recruited, and followed from 6 to 18 months of age, at which time provisional assessments of ASD and language delay will be conducted. Our goal is to acquire dense home-based diary records of the infants' development using novel structured parent data collection methods, including detailed diaries and video-tapes of the infants that will be coded for the emergence of early vocal, language and social-communicative behaviors. These diaries will be complemented by laboratory-based standard assessments at 6, 12 and 18 months. Analyses will focus on comparing the two high-risk sibling groups to one another and to the controls on the timing of emergence of key developmental milestones and the presence of unusual behaviors. The findings from this research program will lead to the development of new clinically useful methods for diagnosing and assessing ASD and SLI in infancy that could be implemented in community settings. Early diagnosis of high risk for these disorders is considered a crucial step in improving the prognosis for children with ASD and SLI, because this will open the doors for early entry into interventions that are known to lead to better outcomes.