Social-Affective Bases of Word Learning in Fragile X Syndrome and Autism

描述(由申请人提供)：虽然脆性X综合征(FXS)是一种单基因(即FMR1)障碍，与典型的行为表型相关，但在影响的严重程度以及神经认知障碍和并存情况的特征方面，综合征内存在相当大的变异性。大约25%-30%的FXS患者也符合自闭症(AUT)的诊断标准，其余的人表现出低于诊断阈值的自闭症样行为。在这个项目中，我们着重于了解FXS男孩在语言发展中的症状内变异性与AUT状态的关系。我们建议使用一个成熟的范式(即，新词学习)来研究患有FXS的儿童(有或没有AUT)如何使用社交情感线索学习新单词(特定目标1)；这种学习过程如何影响后来的语言结果(特定目标2)；以及AUT状态、症状和焦虑以及环境和FMR1基因的差异如何导致这些过程中的综合症内差异(特定目标3)。四组男孩将参与其中，这些组在非语言心理年龄上进行匹配：仅FXS；FXS和AUT共病；特发性AUT；以及典型的发展阶段。在第一时间，每个男孩将参与三个单词学习研究，每个研究的重点是一种不同类型的社交情感线索的使用。还将进行AUT症状、焦虑、认知和语言的评估。母亲的同步性，一种支持语言发展的二元互动策略，以及FMRP水平也将被测量。1.5年后，每个男孩的语言将再次接受评估。采用方差分析、多元线性回归和通径分析等方法，比较两组学生在词汇学习任务中的表现，考察时间1词汇学习与后续语言的关系，以及词汇学习、自闭症症状领域、焦虑、母体同步性和FMR1变异之间的同步关系。该项目将在威斯康星州的韦斯曼中心和M.I.N.D.研究所(CA)进行。该项目的独特之处在于，它纳入了这三个非典型群体，并将重点放在语言问题的根本过程上。

DESCRIPTION (provided by applicant): Although fragile X syndrome (FXS) is a single-gene (i.e., FMR1) disorder associated with a characteristic behavioral phenotype, there is considerable within-syndrome variability in the severity of affectedness and the profile of neurocognitive impairments and co-morbid conditions displayed. About 25-30% of people with FXS also meet diagnostic criteria for autism (AUT), with the remainder displaying autistic-like behavior below the diagnostic threshold. In this project, we focus on understanding within-syndrome variability in language development in relation to AUT status among boys with FXS. We propose to use a well-established paradigm (i.e., novel word learning) to study the ways in which children with FXS (with and without AUT) use social- affective cues to learn new words (Specific Aim 1); how such learning processes impact later language outcomes (Specific Aim 2); and how differences in AUT status and symptoms and anxiety, as well as in the environment and the FMR1 gene, contribute to within-syndrome variation in these processes (Specific Aim 3). Four groups of boys will participate, with the groups matched on nonverbal mental age: FXS only; co-morbid FXS and AUT; idiopathic AUT; and typically developing. At Time 1, each boy will participate in three word- learning studies, each focused on the use of a different type of social-affective cue. Assessments of AUT symptoms, anxiety, cognition, and language will also be conducted. Maternal synchrony, a dyadic interaction strategy known to support language development, and FMRP levels will also be measured. 1.5 years later, each boy's language will again be assessed. ANOVA, multiple linear regression, and path analysis will be used to compare the performance of the groups in the word learning tasks, to examine the relationship between Time 1 word learning and later language, and to examine the concurrent relationships among word learning, autism symptom domains, anxiety, maternal synchrony, and FMR1 variation. The project will be conducted at the Waisman Center (Wisconsin) and the M.I.N.D. Institute (CA). The project is unique in its inclusion of these three atypical groups and its focus on the processes underlying language problems.