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Characterizing the Language Endophenotype in Autism: Longitudinal, Genetic, and Neuropsychological Correlates

Chapel Hill
State/Province Full: 
North Carolina
United States

Language impairment is perhaps the most debilitating clinical feature of autism. Findings that language-related impairments are more common among family members of autistic individuals, coupled with evidence for genetic overlap between autism and language disorders (e.g., Specific Language Impairment) suggest that that impaired language is a genetically meaningful feature of autism. Understanding the roots of autistic persons' language difficulties is therefore not only critical from a clinical/therapeutic standpoint, but also promises to inform molecular genetic studies of autism, where the identification of genetically relevant clinical features is essential. The language and social-cognitive functioning of children with autism along with their parents will be assessed by the investigators. These results will be compared to the parents' early measures of verbal functioning using scores on the Iowa Test of Basic Skills, conducted on elementary school children since 1955. This study adopts family-genetics, developmental, and neuropsychological perspectives to systematically examine language features in individuals with autism and their parents suggestive of inter-generational transmission of language impairments genetically relevant to autism. Significance: Results from the proposed studies will provide important guiding phenotypic information for efforts to dissect the genetic underpinnings of autism, and may inform preventive intervention efforts by highlighting targets for intervention across the autistic spectrum. Findings from the proposed studies will also provide a launching point for further investigation into the neural substrates (using fMRI) associated with language impairment in autism.