Differences in pragmatic (i.e., social) language are the language deficit most robustly associated with AutismSpectrum Disorder (ASD) and the Broad Autism Phenotype (BAP, a constellation of subclinical features inrelatives that parallel in quality the defining characteristics of ASD and are believed to reflect genetic liability inclinically unaffected relatives). Findings from the initial award period indicate that retrospective, longitudinalmeasures of childhood language and cognitive development in parents, together with our battery ofpsycholinguistic and computational linguistic measures of pragmatic ability, measurable in individuals with ASDand their parents, are highly promising markers of ASD endophenotypes that can be targeted in genetic,neurobiological and treatment studies. This competing renewal builds significantly on these findings and ourrelated work, in three important ways. First, given striking findings that parents' early rates of language andcognitive growth in childhood predict the BAP in adulthood, and ASD severity in the next generation (i.e., theirchildren), we expand our study design and methods significantly, to investigate a unique and more expansivearchival database of retrospective developmental, cognitive, social, behavior and personality measuresavailable on a cohort of grandparents and parents of individuals with ASD, from high school through youngadult years. These rich resources, together with our existing longitudinal data on parents' grade school testingrecords (which we will continue to collect), will afford an unprecedented look at developmental profiles throughchildhood and young adulthood (prior to having a child with ASD) that may predict genetic risk of ASD. We alsofurther investigate the biological basis of our candidate pragmatic language endophenotypes through analysisof auditory brainstem response related to an expanded battery of pragmatic language in ASD families. Finally,we investigate the molecular basis of these candidate endophenotypes in families of individuals with ASDthrough measurement of the Fragile X Mental Retardation Protein, which is the protein product of FMR1(implicated in ASD symptomatology), with strong connections to the auditory brainstem, and which preliminarydata show may relate to pragmatic language features in family members of individuals with ASD.
Interagency Autism Coordinating Committee (IACC)
Autism Research Database (AFD)
