Pragmatic Language and Social-Emotional Processing in Autism, Fragile X, and the FMR1 Premutation

Project: Research project

Project Details


Though it is now clear that autism is a highly genetic disorder, genetic basis of the disorder is quite complex, and it is likely caused by many genes and gene-environment interactions. Fragile X syndrome (FXS), a neurodevelopmental disorder caused by mutations in the FMR1 gene, is the most common single-gene disorder associated with autism. Approximately 25-50% of children with FXS meet diagnostic criteria for autism (3-6), and 2-3% of children with autism also have FXS. The molecular mechanisms of FXS are relatively well understood, and promising drug therapies are being developed to treat the social and behavioral deficits of FXS. Recent studies have found that several potential autism genes interact with FMRP, the protein encoded by FMR1, suggesting that this protein plays a role in autism. Thus, examining the relationship between behavioral characteristics of autism and FMRP expression may help to clarify the phenotypes which are tied to the FMR1 gene. Impairments in pragmatic language (i.e., social communication) and social-emotional processing are hallmark characteristics of both autism and FXS. Additionally, adults who carry the FMR1 gene in its premutation state also exhibit subtle pragmatic and social-emotional processing differences similar to those observed in autism. However, no studies to date have investigated pragmatic language and social-emotional processing in children with autism, FXS, and the FMR1 premutation simultaneously, nor have they explored the relationship between FMRP and these core deficits in individuals with autism. The proposed study aims to characterize the pragmatic language and social-emotional processing phenotypes in boys with autism, FXS, and the FMR1 premutation. The rate and severity of pragmatic language differences will be assessed with a semi-naturalistic measure of pragmatic language. This study will also investigate social-emotional processing patterns. Using innovative eye tracking methodology, visual processing pattern
Effective start/end date9/1/138/31/15


  • Autism Speaks Inc. (Grant #8609)


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