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自闭症谱系障碍（ASD）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。本研究旨在确定发声、运动和沟通技能的发生频率、延迟发作和/或非典型化的变化，这些变化可能是日后ASD诊断的指标。所采取的方法包括描述被诊断为自闭症的年长儿童的婴儿兄弟姐妹的这些技能的发展。众所周知，婴儿兄弟姐妹患自闭症和语言迟缓的风险较高。目标是前瞻性地区分那些最终被诊断为自闭症谱系障碍的婴儿兄弟姐妹，那些最终被诊断为语言迟缓但不是自闭症谱系障碍的婴儿兄弟姐妹，以及那些没有明显非典型特征的婴儿兄弟姐妹。将对150名5至14个月大的婴儿进行纵向观察，并在18、24和36个月时进行随访。音频和视频观察设计用于在参与者、标准化仪器和家长报告中一致的背景下取样行为，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、粗大、精细和口头运动技能、言语和手势。诊断结果将在36个月时通过自闭症诊断观察表、自闭症诊断目录修订和使用DSM-IV标准的临床判断进行评估。来自所有三个婴儿兄弟姐妹亚组的数据也将与来自没有已知ASD风险的婴儿的平行数据进行比较，这些数据目前是NAAR和nih资助的单独研究的一部分。分析将集中在识别婴儿期的行为标记，以预测ASD的后期诊断，评估其积极的预测价值，敏感性和特异性，并评估一系列关于婴儿声音，运动和交流行为的产生模式和发育轨迹的变化的假设，这些变化可能区分群体并预测最终的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。为了确定日后ASD诊断的可能预测因素，本研究将重点关注具有特殊ASD风险的婴儿的声音、运动和沟通技能的发展，并将婴儿发育的非典型特征与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.