Grammatical Development in Boys with Fragile X Syndrome and Autism

描述（由申请人提供）：脆性X综合征是智力残疾的主要遗传原因，大多数男性（95%）智商低于70。大多数患有脆性X染色体的男性表现出类似自闭症的行为，25-30%的人符合DSM-IV的自闭症共同诊断标准。患有脆性X染色体和自闭症共病的男性通常被报道在认知和接受/表达语言方面有更严重的整体障碍。然而，语言表型在脆性X和共病脆性X和自闭症是非常不同的个体。此外，自闭症对脆性X语言表型的影响尚不清楚。该项目的目的是确定FXS和自闭症中是否存在语法缺陷，同时检查脆性X染色体共病自闭症对语言的影响。迄今为止，关于发育性残疾语言发展的研究一直是描述性的，而不是理论驱动的。然而，有一个丰富的理论驱动的研究路线在语言障碍儿童的语法发展。扩展的不定式选择性解释（EOI）认为，有特定语言障碍的儿童似乎被“卡”在一个不定式选择性阶段，在这个阶段中，他们把某些语法语素的使用看作是可选的，尽管它们在成人语法中是强制性的。初步证据表明，患有脆性X的儿童和患有自闭症的儿童可能在语法发展的至少一个方面表现出缺陷（即，有限性标记;过去式：他走了）独立于非语言智商。本项目将通过检查所有有限性标记（BE/DO）以及非有限性语法语素（即，复数-s，所有格-s，现在进行时-ing）。这项调查将告知脆性X的男孩是否表现出类似于SLI的语法特征，或者他们的语言是否以所有语法语素的整体困难为特征。此外，共病自闭症对语法发展的影响将通过比较患有脆性X的男孩与没有自闭症的男孩和患有特发性自闭症的男孩来研究。此外，拟议的研究将检查评估FXS男孩和自闭症男孩语法的最有效方法。63名年龄在9-16岁之间的男孩将参与这项研究：仅患有FXS的男孩，患有FXS和自闭症的男孩，以及患有特发性自闭症的男孩。参与者将完成标准化测试，语言样本，自闭症诊断措施和句子模仿任务。这些结果将为脆性X和自闭症的表型提供信息，并为不同病因条件下语言障碍的变异性性质提供见解。来自拟议研究的信息将告知（1）关于语言发育神经限制的假设以及（2）临床评估和干预程序。这项研究奠定了基础，为未来的研究需要评估语言系统的其他方面。

DESCRIPTION (provided by applicant): Fragile X syndrome is the leading inherited cause of intellectual disability, with the majority of males (95%) having IQs below 70. Most males with fragile X display autistic-like behaviors, and 25-30% meet the DSM-IV criteria for an autism co-diagnosis. Males with comorbid fragile X and autism are typically reported to have more severe overall impairments in cognition and receptive/expressive language. However, the language phenotype within fragile X only and comorbid fragile X and autism is extremely variable across individuals. Moreover, the impact of autism on the language phenotype of fragile X is not clear. The purpose of the proposed project is to determine if there is a grammatical deficit in FXS and in autism, while examining the consequences of comorbid autism on language in fragile X. Research on language development in developmental disabilities to date has been descriptive in nature, as opposed to theory-driven. There is however, a rich theory-driven line of research on grammatical development in children with language impairments. The extended optional infinitive account (EOI) posits that children with specific language impairment seem to get "stuck" in an optional infinitive stage in which they treat the use of certain grammatical morphemes as optional, despite their obligatory status in the adult grammar. Preliminary evidence suggests that children with fragile X and children with autism may demonstrate a deficit in at least one aspect of grammatical development (i.e., finiteness marking; past tense: he walked) independent of nonverbal IQ. This project will advance preliminary work by examining all finiteness markers (BE/DO), as well as non-finiteness grammatical morphemes (i.e., plural -s, possessive -s, present progressive -ing). This investigation will inform whether boys with fragile X show a grammatical profile similar to SLI, or if their language is characterized by global difficulty with all grammatical morphemes. In addition, the impact of co-morbid autism on grammatical development will be examined by comparing boys with fragile X with and without autism and boys with idiopathic autism. Additionally, the proposed study will examine the most effective method of assessing grammar in boys with FXS and boys with autism. Sixty-three boys between the ages of 9-16 years will participate in this study: boys with FXS only, boys with FXS and autism, and boys with idiopathic autism. Participants will complete standardized tests, a language sample, autism diagnostic measures, and a sentence imitation task. These results will inform the phenotypes of fragile X and autism and provide insights into the nature of variability in language impairments across different etiological conditions. The information from the proposed studies will inform (1) hypotheses regarding neural constraints on language development as well as (2) clinical assessment and intervention procedures. This study lays the groundwork for future studies needed to assess additional aspects of the linguistic system.