Early Identification of Autism: A Prospective Study

描述(由申请人提供)：早期开始强化干预可能会改善患有自闭症谱系障碍(ASD)的儿童的预后；然而，目前还没有可靠的技术来诊断两岁前的自闭症谱系障碍。这项研究旨在确定在发声、运动和沟通技能方面的出现频率、延迟起病和/或不典型的变化，这些变化可能预示着以后的ASD诊断。所采取的方法包括描述被诊断为自闭症的较大儿童的婴儿兄弟姐妹的这些技能的发展情况。众所周知，婴儿兄弟姐妹患自闭症和语言延迟的风险更高。目标将是前瞻性地区分那些最终被诊断为ASD的婴儿兄弟姐妹，那些最终被诊断为语言延迟但没有ASD的婴儿，以及那些没有明显不典型的婴儿。将对150名婴儿兄弟姐妹进行纵向观察，观察年龄从5到14个月，并在18、24和36个月进行随访。录音和录像观察旨在对参与者一致的情境中的行为进行采样，标准化工具和家长报告将用于研究发声、有节奏的肢体运动、声音-运动协调、姿势和运动能力、粗略、精细和口头运动技能、文字和手势。诊断结果将在36个月时通过自闭症诊断观察表、修订的自闭症诊断量表和使用DSM-IV标准的临床判断进行评估。来自所有三组婴儿兄弟姐妹的数据也将与目前作为NAAR和NIH资助的单独研究的一部分进行跟踪调查的无自闭症风险的婴儿的平行数据进行比较。分析将侧重于识别婴儿时期预测ASD以后诊断的行为标志物，评估它们的阳性预测价值、敏感性和特异性，并评估一组关于婴儿发声、运动和交流行为的产生和发展轨迹的变化的假说，这些假说可能区分不同的群体，并预测最终的ASD或语言延迟诊断。我们目前缺乏诊断2岁以下儿童自闭症谱系障碍(ASD)的可靠方法。为了确定ASD诊断的可能预测因素，本研究将重点关注ASD高危婴儿的发声、运动和沟通技能的发展，并将婴儿发育中的不典型与3岁时的诊断状态联系起来。

DESCRIPTION (provided by applicant): Early initiation of intensive intervention may lead to improved outcomes for children with autism spectrum disorders (ASD); yet there are currently no reliable techniques for diagnosing ASD before the age of two years. This research is designed to identify variations in frequencies of occurrence, delayed onset, and/or atypicalities in vocal, motor, and communicative skills that may index later ASD diagnosis. The approach taken involves describing the development of these skills in infant siblings of older children who have been diagnosed with Autism. Infant Siblings are known to be at elevated risk for ASD and language delay. The goal will be to distinguish prospectively between those Infant Siblings eventually diagnosed with ASD, those eventually diagnosed with Language Delay but not ASD, and those with no apparent atypicalities. One hundred fifty Infant Siblings will be observed longitudinally from ages 5 to 14 months, with follow-up at 18, 24, and 36 months. Audio- and videotaped observations designed to sample behavior in contexts that are consistent across participants, standardized instruments, and parental reports will be employed to study vocalizations, rhythmic limb movements, vocal-motor coordinations, postural and locomotor abilities, gross, fine, and oral-motor skills, words, and gestures. Diagnostic outcomes will be assessed at 36 months with the Autism Diagnostic Observation Schedule, Autism Diagnostic Inventory-Revised, and clinical judgment using DSM-IV criteria. Data from all three subgroups of Infant Siblings will also be compared to parallel data from infants with no known risk for ASD currently being followed as part of separate NAAR and NIH-funded studies. Analyses will focus on identifying behavioral markers in infancy that predict a later diagnosis of ASD, assessing their positive predictive value, sensitivity, and specificity, and on evaluating a set of hypotheses concerning variation in patterns of production and developmental trajectories of infant vocal, motor, and communicative behaviors that may differentiate groups and predict an eventual ASD or Language Delay diagnosis. We currently lack reliable methods for diagnosing autism spectrum disorders (ASD) in children younger than 2 years of age. To identify possible predictors of later ASD diagnosis, this study will focus on the development of vocal, motor, and communicative skills in infants at particular risk for ASD and relate atypicalities in infant development to diagnostic status at 3 years of age.