Language and Executive Function in Females with ASD or FXS

University Of Wisconsin-Madison, Madison WI

Investigators

Abstract

PROJECT SUMMARY/ABSTRACT Females with neurodevelopmental disabilities, including females with Down syndrome (DS), autistic females (iASD), and females with fragile X syndrome (FXS), are significantly understudied in research. Even though, 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 females in these clinical groups. DS is the most common genetic cause of intellectual disability, while FXS is the most common inherited cause of intellectual disability and the most common single-gene cause of ASD. Both DS and FXS are associated with higher rates of co-occurring autism compared to the general population. Research on males has identified key areas of overlap and distinction between these three neurodevelopmental disabilities, particularly in language and cognition. Thus, studies comparing the phenotypes of DS, 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 these three clinical disorders. Executive functions are one aspect of cognition that has received significant attention in DS, FXS, and iASD, since they are an important contributor to real-world outcomes and particularly amenable to treatment. 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 females with DS, FXS, or iASD. There is an urgent need to characterize the language and cognitive phenotypes of school-age females with these disorders to understand the nature and course of development. The proposed supplement will add a group of 20 8-12- year-old females with DS to the parent project, which includes 8–12-year-old females with FXS (n = 70) and iASD females (n = 70). Through two specific aims, we will determine the extent, nature, and syndrome specificity of impairments in language and executive functions and examine their relationships. We will determine the impact of language and executive functions on key developmental outcomes, including literacy, adaptive functioning, and psychiatric symptomatology. The proposed study will include standardized assessments, expressive language samples, experimental tasks, and parent report measures. The data from this study will provide critical information for clinicians and educators working with females with DS, FXS, and iASD and will provide data necessary for the development of targeted interventions for cognitive and language skills directly impacting developmental outcomes.