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Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome

Authors

  • Mariko Nakanishi,

    Corresponding author
    1. Division of Child Development, Rehabilitation, and Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    • The Children's Hospital of Philadelphia, 3550 Market Street, 3rd floor, Philadelphia, PA 19104.
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  • Matthew A. Deardorff,

    1. Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Dinah Clark,

    1. Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Susan E. Levy,

    1. Division of Child Development, Rehabilitation, and Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Ian Krantz,

    1. Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Mary Pipan

    1. Division of Child Development, Rehabilitation, and Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • How to Cite this Article: Nakanishi M, Deardorff M, Clark D, Levy SE, Krantz I, Pipan M. 2012. Investigation of autistic features among individuals with mild to moderate Cornelia de Lange syndrome. Am J Med Genet Part A. 158A:1841–1847.

Abstract

Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Autism has been reported to occur frequently in CdLS, but the frequency of autism in individuals with the milder CdLS phenotype is not well studied. We investigated autistic features by using a screening tool and a diagnostic interview in 49 individuals with the mild to moderate phenotype from a CdLS research database at the Children's Hospital of Philadelphia. The Social Communication Questionnaire (SCQ), a screening instrument for autistic disorder, was completed for all individuals. For individuals who screened positive and a subset of those that screened negative, the Autism Diagnostic Interview-Revised (ADI-R) was administered. Autistic symptom severity was not significantly different by gender, age groups, and genotypes. There was a significant correlation between higher levels of adaptive functioning and lower scores of autistic symptoms. The estimated prevalence of significant autistic features by ADI-R criteria was 43% in our cohort of individuals with the mild to moderate CdLS phenotype, which suggests that prevalence of autistic disorder may be higher than previously described among individuals with mild to moderate phenotype of CdLS. Clinicians who take care of individuals with CdLS should have a high index of suspicion for autistic features, and refer for further evaluation when these features are present in order to expedite appropriate intervention. © 2012 Wiley Periodicals, Inc.

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