Language and Executive Function in Females with ASD or FXS

患有 ASD 或 FXS 的女性的语言和执行功能

• 批准号: 10657280
• 负责人: Audra Marie Sterling
• 金额: $ 67.74万
• 依托单位: UNIVERSITY OF WISCONSIN-MADISON
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2028-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10657280
• 关键词: 12 year old; Academic achievement; Academic skills; Adaptive Behaviors; Address; Age; Area; Attention; Biological Models; Child; Clinical; Coffee; Cognition; Cognitive; Communication; Communication impairment; Comparative Study; Complex; Data; Development; Diagnosis; Disease; Educational Models; Female; Foundations; Fragile X Syndrome; Genes; Goals; Impairment; Individual; Inherited; Intellectual functioning disability; Intervention; Knowledge; Language; Language Development; Measures; Mission; National Institute on Deafness and Other Communication Disorders; Nature; Neurodevelopmental Disorder; Outcome; Parents; Performance; Phenotype; Population; Prevalence; Public Health; Reporting; Research; Sampling; School-Age Population; Schools; Severities; Specificity; Standardization; Symptoms; Syndrome; Testing; Time; Work; autism spectrum disorder; autistic; behavioral phenotyping; clinical practice; cognitive ability; course development; education planning; executive function; experience; functional outcomes; improved; individualized medicine; language impairment; literacy; longitudinal design; male; non-verbal; peer; programs; psychiatric comorbidity; recruit; skills; symptomatology

PROJECT SUMMARY/ABSTRACT Autistic females (iASD) and females with fragile X syndrome (FXS) are two clinical groups that are significantly understudied in research. Despite the fact that, like their male peers, females experience pervasive, lifelong difficulties with language, adaptive functioning, psychiatric comorbidities, and academic achievement, there remains a dearth of research regarding phenotypic development in iASD females and females with FXS. FXS is the most common inherited cause of intellectual disability and the most common single gene cause of ASD, with 14-45% of females with FXS having a co-occurring ASD diagnosis. Research on males has identified key areas of overlap and distinction between FXS and iASD, particularly in language and cognition. Thus, studies comparing the phenotypes of FXS and iASD in females, focusing on areas of overlap and divergence, are particularly important because they provide the foundation for clinical and educational planning and elucidating the mechanisms producing the phenotypes of FXS and iASD. Executive functions are one aspect of cognition that has received significant attention in FXS and iASD, since they are an important contributor to real-world outcomes and particularly amenable to treatment. The hierarchical competing systems model of executive functions describes the interrelationships between language and executive functions in neurotypical development, but these relationships have yet to be explored in iASD females and females with FXS. Both language and executive functions are known to have a significant and pervasive impact on critical developmental outcomes including academic skills (i.e., literacy), adaptive behavior, and psychiatric symptomatology. The impact of language and executive functions on these outcomes has not been explored in iADS females and females with FXS. There is an urgent need to characterize the language and cognitive phenotypes of school-age iASD females and females with FXS within a developmental framework to understand the nature and course of development, and impact over time on important outcomes. Through three specific aims, we will determine the extent, nature and syndrome specificity of impairments in language and executive functions in iASD females and females with FXS, and test their causal relationships through longitudinal associations. We will recruit 8-12 year-old females with FXS (n = 60) and iASD females (n = 60). The proposed study will include standardized assessments, expressive language samples, experimental tasks, and parent report measures taken at two time points. We will determine the impact of language and executive functions on key developmental outcomes including literacy, adaptive functioning, and psychiatric symptomatology. The data from this study will provide critical information for clinicians and educators working with iASD females and females with FXS and will provide data necessary for the development of targeted interventions for cognitive and language skills directly impacting developmental outcomes.

项目摘要/摘要 自闭症女性（IASD）和患有脆弱X综合征（FXS）的女性是两个显着的临床组 研究研究。尽管像男性同龄人一样，女性经历了普遍的终生 语言，自适应功能，精神病合并症和学术成就的困难， 关于IASD女性和FX女性的表型发育的研究仍然是缺乏研究。 FXS 是智力残疾的最常见原因，也是ASD最常见的单个基因原因， 有14-45％的女性具有同时存在ASD诊断的FXS。关于男性的研究已经确定了关键 FXS和IASD之间的重叠和区别领域，尤其是语言和认知方面。因此，研究 比较女性的FXS和IASD的表型，重点是重叠和差异领域 特别重要，因为它们为临床和教育计划和阐明为基础 产生FXS和IASD表型的机制。执行功能是认知的一个方面 这在FXS和IASD上受到了极大的关注，因为它们是现实世界中的重要贡献者 结局，特别适合治疗。执行的分层竞争系统模型 功能描述了神经型中语言与执行功能之间的相互关系 发展，但是这些关系尚未在IASD女性和FXS中探索。两个都 语言和执行功能已知对关键产生重大且普遍的影响 发展成果，包括学术技能（即识字），适应性行为和精神病学 症状学。语言和执行功能对这些结果的影响尚未在 IAD女性和女性具有FXS。迫切需要表征语言和认知 在发育框架内具有FXS的学龄女性和女性的表型 了解发展的性质和过程，并随着时间的推移影响重要的结果。通过 三个具体目标，我们将确定语言障碍的程度，性质和综合征特异性 以及具有FXS的IASD女性和女性的行政职能，并通过 纵向关联。我们将招募具有FXS（n = 60）和IASD女性（n = 60）的8-12岁女性。 拟议的研究将包括标准化评估，表达语言样本，实验任务， 和父母报告在两个时间点采取的措施。我们将确定语言和高管的影响 在关键发展成果上发挥作用，包括识字，自适应功能和精神病学 症状学。这项研究的数据将为临床医生和教育工作者提供关键信息 具有IASD女性和具有FXS的女性，将提供针对目标的发展所必需的数据 认知和语言技能的干预措施直接影响发展成果。