Pragmatic Language in autism and fragile X syndrome: Genetic and clinical applications

Perspect Lang Learn Educ. 2012 Mar 1:19:48-55. doi: 10.1044/lle19.2.48.

Abstract

Evidence suggests a strong genetic basis to autism. Our research program focuses on identifying genetically meaningful phenotypes in autism, through family-genetic and cross-population methods, with a particular focus on language and social phenotypes that have been shown to aggregate in families of individuals with autism. In this article, we discuss recent findings from family study research implicating particular language and personality features as markers for genetic liability to autism and fragile X syndrome and FMR1-related variation in relatives. We conclude with consideration of the clinical implications of such findings.

Keywords: Autism; Broad Autism Phenotype; FMR1 Premutation; Fragile X Syndrome; Pragmatic Language.