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

结节性硬化症 (TSC) 的早期沟通及其对自闭症的预测

基本信息

批准号：
10672967
负责人：
Tanjala Trinette Gipson
金额：
$ 19.77万
依托单位：
UNIVERSITY OF TENNESSEE HEALTH SCI CTR
依托单位国家：
美国
项目类别：
财政年份：
2022
资助国家：
美国
起止时间：
2022-08-01 至 2027-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10672967
关键词：
Age Autism Diagnosis Award Behavior Centers of Research Excellence Child Child Development Clinical Code Communication Data Data Set Databases Dedications Development Diagnosis Early Intervention Early identification Environment Epilepsy Equipment and supply inventories Evaluation Foundations Goals Home Human Individual Infant K-Series Research Career Programs Knowledge Laboratories Language Language Development Language Development Disorders Language Disorders Life Longitudinal Studies Maps Measures Mentors Methods Modeling Neurobiology Nursery Schools Outcome Outcome Measure Persons Population Procedures Psychosocial Factor Recording of previous events Reporting Research Role Severities Standardization Testing Toddler Tuberous Sclerosis Video Recording Vocabulary Work auditory comprehension autism diagnostic observation schedule autism spectrum disorder automated analysis effective intervention follow-up gaze genetic testing high risk high risk population insight instrument interest joint attention language outcome non-verbal outcome prediction programs shared attention social social communication vocalization word learning

项目摘要

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.

项目概要/摘要据报道，近 70% 的结节性硬化症患者存在语言困难复杂（TSC），但对该人群的语言发展知之甚少。此外，50% 患有 TSC 的人患有自闭症谱系障碍 (ASD)；语言缺陷也常见于 ASD。在一项初步研究中，我们发现大多数人的早期发声发育存在缺陷患有 TSC 的婴儿，无论 ASD 的诊断如何。因此，我们当前提案的目标是检查 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（Tuberous 硬化症自闭症卓越中心）用于规范的牙牙学语（语言的先驱）和流畅度。我们将把规范的牙牙学语和发音与非声音测量进行比较，共享注意力，预测 12 个月时的语言结果和自闭症谱系障碍 (ASD) 严重程度（按早期社会沟通量表（ESCS）。目标 2-4 将需要对语言发展轨迹进行新的纵向研究以及语言结果和 ASD 严重程度的预测因素。语言将使用 LENA 进行测量（语言环境分析）录音（目标 2）；快速映射范式（目标 3）和麦克阿瑟-贝茨交际发展量表 (MCDI)（目标 3）。共同关注将使用 ESCS 进行测量（目标 2）。每项措施都会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（由评估者评估）学前语言量表 5 (PLS-5)（目标 2-3）和自闭症严重程度（通过 36 个月时的自闭症诊断观察计划 (ADOS)（目标 4）。目前，尽管 TSC 中语言困难和自闭症谱系障碍 (ASD) 的风险很高，但很少甚至没有关于 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。该奖项产生的数据将作为独立的基础致力于 TSC 神经生物学和语言交叉的研究项目发展。