Early Communication in Tuberous Sclerosis Complex (TSC) and its Prediction of Autism

项目总结/摘要 据报道，近70%的结节性硬化症患者存在语言障碍 复杂（TSC），但语言发展在这一人群中知之甚少。此外，50% 的TSC患者发展为自闭症谱系障碍（ASD）;语言缺陷也是 在ASD中常见。在一项初步研究中，我们发现大多数人在早期发声发育中存在缺陷， TSC婴儿，无论ASD的诊断如何。因此，我们目前提案的目标是， 研究TSC婴儿语言结果和ASD严重程度的潜在预测因素。 在目标1中，我们将对来自TACERN（澳大利亚）的婴儿的音视频记录进行编码 硬化症自闭症卓越中心）的规范咿呀学语（语言的前身）和 健谈我们将比较典型的咿呀学语和能言善辩的非声乐措施，共享 注意力，在预测12个月时的语言结果和ASD严重程度时， 早期社会沟通量表（ESCS） 目标2-4需要对语言发展的轨迹进行新的纵向研究 以及语言结果和ASD严重程度的预测因子。语言将使用LENA进行测量 （语言强化分析）记录（目标2）;快速映射范式（目标3）和 MacArthur-Bates沟通发展量表（MCDI）（目标3）。共同的关注点 将使用ESCS（目标2）进行测量。每项措施将产生潜在的预测因素， 结果。我们将研究这些措施如何预测语言结果的评估， 学龄前语言量表5（PLS-5）（目标2-3）和自闭症严重程度， 36个月时的自闭症诊断观察计划（ADOS）（目标4）。 目前，尽管TSC中语言困难和ASD的风险很高， 关于TSC中语言的起源和轨迹以及如何预测的数据是可用的 结果。在此奖项下产生的数据将作为一个独立的基础， 致力于TSC神经生物学和语言交叉的研究计划 发展

Project Summary/Abstract Language difficulties have been reported in nearly 70% of people with tuberous sclerosis complex (TSC), but language development is poorly understood in this population. Further, 50% of individuals with TSC develop autism spectrum disorder (ASD); language deficits are also common in ASD. In a preliminary study, we found deficits in early vocal development in most infants with TSC regardless of the diagnosis of ASD. Thus, the goal of our current proposal is to examine potential predictors of language outcome and ASD severity in infants with TSC. In Aim 1, we will code audio-video recordings of infants from TACERN (Tuberous Sclerosis Autism Center of Excellence) for canonical babbling (a precursor to language) and volubility. We will compare canonical babbling and volubility to a non-vocal measure, shared attention, in predicting language outcome and ASD severity at 12 months as measured by the Early Social Communication Scales (ESCS). Aims 2-4 will entail a new longitudinal study of the trajectory of language development and predictors of language outcome and ASD severity. Language will be measured using LENA (Language ENvironment Analysis) recordings (Aim 2); a fast-mapping paradigm (Aim 3) and the MacArthur-Bates Communicative Development Inventories (MCDI) (Aim 3). Shared attention will be measured using the ESCS (Aim 2). Each measure will generate potential predictors of outcome. We will examine how these measures predict language outcome as assessed by the Preschool Language Scale 5 (PLS-5) (Aims 2-3) and autism severity as measured by the Autism Diagnostic Observation Schedule (ADOS) at 36 months (Aim 4). Currently, despite the high risk of language difficulties and ASD in TSC, very little to no data are available about the origin and trajectory of language in TSC and how this might predict outcome. Data generated under this Award will serve as the foundation of an independent research program dedicated to the intersection of TSC neurobiology and language development.