AUTISM AND SLI--THE LANGUAGE PHENOTYPES IN FAMILIES

自闭症和 SLI——家庭中的语言表型

• 批准号: 6152422
• 负责人: Susan E. FOLSTEIN
• 金额: $ 5万
• 依托单位: EUNICE KENNEDY SHRIVER CTR MTL RETARDATN
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-01-08 至 2002-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6152422
• 关键词: adolescence (12-20); autism; behavioral /social science research tag; behavioral genetics; clinical research; disease /disorder etiology; family genetics; human subject; intelligence tests; interview; language development; language disorders; mental disorder diagnosis; middle childhood (6-11); neuropsychological tests; parents; phenotype; psycholinguistics; semantics; siblings

Because of advances in methods for neuroimaging and genetic linkage, we now have the means to make important gains in our knowledge of the biological mechanisms and etiologies of autism. Advances depend, in part on more precise and specific definitions of the language phenotypes of autism, particularly in their family members who often have traits that are conceptually similar to components of the core disorder. The goals of this proposed study are to characterize more precisely the language phenotype found in the first degree relatives (parents and siblings) of autistic probands, to assess its specificity by similarly assessing families identified through a proband with specific language Impairment (SLI) and to explore the relationship between the language phenotype in probands (both autism and SLI) and their family members. We hypothesize that the autistic probands and their families will have abnormalities mainly in pragmatic and discourse aspects of language while the SLI families will have predominantly structural language deficits particularly in syntax/morphology and phonology/fluency. We also hypothesize that there will be some overlap between these populations which may reflect commonalities in etiology or mechanism of the two disorders. In this collaborative effort between the Eunice Kennedy Shriver Center and the University of Iowa, we propose to study the probands and first degree relatives of 100 families with a child with SLI, and 50 normal control families. All probands and their parents and siblings will be given parallel measures of intelligence, reading, spelling and language including standardized test, experimental procedures and natural language samples to quantify both pragmatic and structural aspects of language.

由于神经影像学和遗传连锁方法的进步，我们现在有办法在自闭症的生物学机制和病因学知识方面取得重要进展。 进展部分取决于对自闭症语言表型的更精确和具体的定义，特别是在其家庭成员中，他们的特征在概念上与核心疾病的组成部分相似。 这项拟议研究的目标是更准确地描述自闭症先证者的一级亲属（父母和兄弟姐妹）中发现的语言表型，通过类似地评估通过具有特定语言障碍（SLI）的先证者确定的家庭来评估其特异性，并探索先证者（自闭症和 SLI）的语言表型与其家庭成员之间的关系。我们假设自闭症先证者及其家人主要在语言的语用和话语方面存在异常，而 SLI 家庭主要存在结构性语言缺陷，特别是在句法/形态和音系/流利度方面。 我们还假设这些人群之间会有一些重叠，这可能反映了两种疾病的病因或机制的共性。 在尤尼斯·肯尼迪·施赖弗中心和爱荷华大学的这项合作中，我们建议对 100 个有 SLI 儿童的家庭和 50 个正常对照家庭的先证者和一级亲属进行研究。 所有先证者及其父母和兄弟姐妹都将接受智力、阅读、拼写和语言的平行测量，包括标准化测试、实验程序和自然语言样本，以量化语言的语用和结构方面。