Language and Executive Function in Females with ASD or FXS

项目摘要/摘要 自闭症女性(IASD)和女性脆性X综合征(FXS)是两个临床上显著 在研究中未被充分研究。尽管事实是，像他们的男性同龄人一样，女性经历了无处不在的终生体验 在那里，语言、适应功能、精神障碍和学习成绩方面的困难 仍然缺乏关于IASD女性和FXS女性的表型发育的研究。FXS 是导致智力残疾的最常见的遗传原因，也是导致自闭症的最常见的单基因原因， 患有FXS的女性中有14-45%的人同时被诊断为ASD。对男性的研究确定了关键 FXS和IASD之间的重叠和区别领域，特别是在语言和认知方面。因此，研究 比较女性FXS和IASD的表型，重点放在重叠和分歧的区域，是 尤其重要，因为它们为临床和教育计划和阐明提供了基础 FXS和IASD表型的产生机制。执行功能是认知的一个方面 这在FXS和IASD中受到了极大的关注，因为它们是现实世界的重要贡献者 结果，特别容易接受治疗。管理层层次化竞争系统模型 功能描述了语言和执行功能在神经典型中的相互关系 但这些关系尚未在IASD女性和患有FXS的女性中进行探索。两者都有 众所周知，语言和行政职能对关键问题有着重大而普遍的影响 发展成果，包括学习技能(即识字)、适应行为和精神病学 症状学。语言和执行功能对这些结果的影响还没有在 女性和患有FXS的女性。迫切需要对语言和认知特征进行描述 学龄期IASD女性和FXS女性在发育框架内的表型 了解发展的性质和进程，以及随着时间的推移对重要成果的影响。穿过 三个具体目标，我们将确定语言障碍的程度、性质和证候特异性 以及IASD女性和FXS女性的执行功能，并通过 纵向关联。我们将招募8-12岁患有FXS的女性(n=60)和IASD女性(n=60)。 拟议的研究将包括标准化评估、可表达的语言样本、实验任务、 和家长报告在两个时间点采取的措施。我们将确定语言和执行的影响 对包括识字、适应功能和精神病学在内的关键发展成果的作用 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 与IASD女性和患有FXS的女性进行合作，并将提供有针对性的开发所需的数据 对认知和语言技能的干预直接影响发展成果。

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.