Neurobehavioral Research on Infants at Risk for SLI and Autism

描述（由申请人提供）：特定语言障碍（SLI）和自闭症谱系障碍（ASD）是复杂的，高度遗传性的疾病，涉及语言和沟通的原发性障碍。这两种疾病都是异质性的，长期结果差异很大，并且在有确诊孩子的家庭中，其他亲属可能具有一些共同的行为特征，但不符合诊断标准。在大约12个月的时候，对于后来被诊断为SLI或ASD的儿童，首次报告了主要语言和沟通里程碑的延迟，但到目前为止，对生命第一年可能检测到的迹象知之甚少。该研究项目旨在通过调查这些疾病风险婴儿的早期发育来解决这一重要的临床和理论问题（根据确诊的年长兄弟姐妹定义风险）。基于其他人早期的工作和我们自己的初步数据，我们提出，基本处理系统中的神经行为风险标志物（例如，听觉/语言;视觉/社交）可以在生命的第一年的后半期检测到。这是一个非常重要的阶段，因为在此期间，语言和社会感知的发展都取决于关键的社会嵌入式学习经验。我们假设，SLI和ASD风险的婴儿有风险标志物，信号在语音/通信处理机制的问题; ASD风险的婴儿有额外的（非共享）风险标志物，信号在发展中的问题，是基于社会嵌入的经验。这些标志物可能会导致发育轨迹的改变。这项研究的具体目的是（1）确定区分SLI或ASD风险婴儿和低风险对照婴儿的标志物;（2）确定以后SLI和ASD诊断的预测因素（36月龄时）来自6至12月龄之间收集的测量值;（3）比较有和无临床结果的婴儿在6个月和36个月之间的关键语言和相关社会/认知测量的发展轨迹。这些目标将在6至36个月大的婴儿后进行纵向前瞻性设计。将使用行为、眼动跟踪和神经生理学测量以及认知和大脑发育的一般测量（头围; EEG）收集语言和社会感知数据。这项研究的发现将对开发新的临床有用的方法产生重大影响，用于识别SLI和ASD高风险的婴儿;反过来，这将改善他们的预后，因为它将为早期进入干预措施打开大门，这些干预措施已知会导致更好的结果。公共卫生相关性：该项目旨在检测生命第一年中两种最普遍的语言发育障碍的最早风险标志。这项研究的发现将对开发早期筛查和诊断特定语言障碍和自闭症谱系障碍的新方法产生重大影响。反过来，在更小的年龄被确定为表现出显著风险迹象的儿童将能够利用早期干预措施，这些干预措施可能会预防症状的发作或降低疾病的严重程度。

DESCRIPTION (provided by applicant): Specific language impairment (SLI) and autism spectrum disorders (ASD) are complex, highly heritable disorders that involve primary impairments in language and communication. Both disorders are heterogeneous, longer-term outcomes vary considerably, and in families that have a diagnosed child, other relatives may share some behavioral features without meeting diagnostic criteria. At around 12 months, delays in major language and communication milestones are first reported for children later diagnosed with SLI or ASD, but thus far, relatively little is known about signs that may be detected during the first year of life. This research program is designed to address this important clinical and theoretical issue by investigating the early development of infants at risk for these disorders (with risk defined on the basis of an older sibling with a confirmed diagnosis). Building on earlier work by others and our own preliminary data, we propose that neurobehavioral markers of risk in fundamental processing systems (e.g., auditory/speech; visual/social) can be detected in the latter half of the first year of life. This is a highly significant stage because during this time development of both language and social perception depend on critical socially-embedded learning experiences. We hypothesize that infants at risk for SLI and ASD have risk markers that signal problems in speech/communication processing mechanisms; infants at risk for ASD have additional (non-shared) risk markers that signal problems in development that are grounded in socially-embedded experiences. These markers may result in altered developmental trajectories. The specific aims of the research are (1) to identify markers that distinguish between infants at risk for SLI or ASD and low risk controls; (2) to identify the predictors of later SLI and ASD diagnoses (at 36 months of age) from measures collected between 6 and 12 months of age; and (3) to compare developmental trajectories of key language and related social/cognitive measures between 6 and 36 months in infants with and without clinical outcomes. These aims will be pursued in a longitudinal prospective design following infants from 6 to 36 months of age. Data will be collected on language and social perception using behavioral, eye-tracking and neurophysiological measures as well as general measures of cognitive and brain development (head circumference; EEG). The findings from this research will have a significant impact on developing novel clinically useful methods for identifying infants at high risk for SLI and ASD; in turn this will improve their prognosis because it will open the doors for early entry into interventions that are known to lead to better outcomes. PUBLIC HEALTH RELEVANCE: This project is designed to detect the earliest risk markers in the first year of life for the two most prevalent developmental disorders of language. The findings from this research will have a major influence in developing novel approaches to early screening and diagnosis for specific language impairment and autism spectrum disorders. In turn, children identified as showing significant risk signs at much younger ages will be able to take advantage of early interventions that may prevent the onset of symptoms or reduce the severity of the disorder.