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）和特定语言障碍（SLI）都是涉及语言原发性障碍的复杂疾病，通常根据幼儿或学龄前期间出现的行为症状进行诊断。双胞胎和家庭研究已经证明了ASD和SLI的高遗传率估计，并且这些研究中有证据表明这些疾病之间存在重叠，表明部分共同的病因。对于被诊断患有ASD和SLI的儿童，结果存在相当大的差异，特别是在语言和社交障碍的严重程度方面。拟议的探索性研究计划的主要目标是开发一种新的方法学方法，用于确定6至12个月的ASD和SLI的风险和语言和沟通发展的早期预测因素。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婴儿发展的密集的家庭日记记录，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发声、语言和社会交往行为的出现。这些日志将在6、12和18个月时通过基于实验室的标准评估进行补充。分析的重点是将两个高风险兄弟姐妹群体相互比较，以及对关键发育里程碑出现时间和异常行为存在的控制。这项研究计划的结果将导致开发新的临床有用的方法，用于诊断和评估婴儿期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会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.