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

• 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
• 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

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.

项目摘要/摘要 据报道，近70％的结节硬化症患者已经遇到了语言困难 复杂（TSC），但是在这个人群中，语言发展知之甚少。此外，50％ TSC患者患有自闭症谱系障碍（ASD）；语言缺陷也是 在ASD中常见。在一项初步研究中，我们在大多数人中发现了早期人声发展的缺陷 患有TSC的婴儿无论ASD的诊断如何。因此，我们当前建议的目标是 检查TSC婴儿的语言结果和ASD严重程度的潜在预测指标。 在AIM 1中，我们将编码来自Tacern的婴儿的Audio-Video录音 硬化自闭症卓越中心）适用于典型的bablbling（语言的先驱）和 能力。我们将比较规范的胡言乱语和不易体性，并共享 注意，预测12个月的语言结果和ASD严重程度。 早期社交沟通量表（ESC）。 AIMS 2-4将需要对语言发展轨迹的新纵向研究 以及语言结果和ASD严重性的预测因素。语言将使用Lena测量 （语言环境分析）录音（AIM 2）；快速映射范式（AIM 3）和 MacArthur-Bates交流发展清单（MCDI）（AIM 3）。共同注意 将使用ESC进行测量（AIM 2）。每个措施都会产生潜在的预测指标 结果。我们将研究这些措施如何预测语言结果，如 学龄前语言量表5（PLS-5）（目标2-3）和自闭症严重程度 自闭症诊断观察时间表（ADOS）在36个月时（AIM 4）。 目前，尽管语言困难和TSC中的ASD风险很高，但很少 有关TSC中语言的来源和轨迹的数据以及如何预测 结果。根据该奖项生成的数据将成为独立的基础 研究计划致力于TSC神经生物学与语言的交集 发展。