Abstract

Autism spectrum disorder (ASD), a heritable neurodevelopmental disorder, confers genetic liability that is often expressed among relatives through subclinical, genetically-meaningful traits, or endophenotypes. For instance, relative to controls, parents of individuals with ASD differ in language-related skills, with differences emerging in childhood. To examine ASD-related endophenotypes, this study investigated developmental academic profiles among clinically unaffected siblings of individuals with ASD (n = 29). Lower performance in language-related skills among siblings mirrored previously-reported patterns among parents, which were also associated with greater subclinical ASD-related traits in themselves and their parents, and with greater symptom severity in their sibling with ASD. Findings demonstrated specific phenotypes, derived from standardized academic testing, that may represent childhood indicators of genetic liability to ASD in first-degree relatives.

Highlights

  • Autism spectrum disorder (ASD) is a highly heritable, genetically complex neurodevelopmental disorder

  • Studies of parents of individuals with ASD suggest important differences from controls in language-related skills in particular, including evidence that such differences may emerge in childhood, that may serve as early markers of genetic liability to ASD

  • This study investigated whether developmental academic profiles may be evident among clinically unaffected siblings of individuals with ASD, and possibly constitute developmental endophenotypic markers of ASD genetic risk among relatives

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Summary

Introduction

Autism spectrum disorder (ASD) is a highly heritable, genetically complex neurodevelopmental disorder. Tom Wassink The University of Iowa Healthcare m-losh@northwestern.edu Studies of parents of individuals with ASD suggest important differences from controls in language-related skills in particular, including evidence that such differences may emerge in childhood, that may serve as early markers of genetic liability to ASD.

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