Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism

Authors

  • Molly Losh,

    Corresponding author
    1. Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Illinois
    • Roxelyn and Richard Pepper Department of Communication Sciences and Disorders, Northwestern University, Frances Searle, 2-340, Evanston, IL 60208.
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  • Jessica Klusek,

    1. Division of Speech and Hearing Sciences, Department of Allied Health Sciences, University of North Carolina at Chapel Hill, North Carolina
    2. Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, North Carolina
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  • Gary E. Martin,

    1. Division of Speech and Hearing Sciences, Department of Allied Health Sciences, University of North Carolina at Chapel Hill, North Carolina
    2. Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, North Carolina
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  • John Sideris,

    1. Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, North Carolina
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  • Morgan Parlier,

    1. Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, North Carolina
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  • Joseph Piven

    1. Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, North Carolina
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  • How to Cite this Article: Losh M, Klusek J, Martin GE, Sideris J, Parlier M, Piven J. 2012. Defining Genetically Meaningful Language and Personality Traits in Relatives of Individuals With Fragile X Syndrome and Relatives of Individuals With Autism. Am J Med Genet Part B 159B:660–668.

Abstract

Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype. © 2012 Wiley Periodicals, Inc.

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