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DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

  • Tess Levy
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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  • Paige M. Siper
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA
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  • Bonnie Lerman
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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  • Danielle Halpern
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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  • Jessica Zweifach
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA
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  • Puneet Belani
    Affiliations
    Department of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA
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  • Audrey Thurm
    Affiliations
    Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland 20814, USA
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  • Tjitske Kleefstra
    Affiliations
    Radboud University Medical Center, Nijmegen, The Netherlands; Vincent van Gogh Centre for Neuropsychiatry, Venray, The Netherlands
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  • Elizabeth Berry-Kravis
    Affiliations
    Department of Pediatrics, Neurological Sciences, Anatomy and Cell Biology, Rush University Medical Center, Chicago, Illinois 60612, USA
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  • Joseph D. Buxbaum
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, 10029 USA

    Department of Genetics and Genomic Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA
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  • Dorothy E. Grice
    Correspondence
    Correspondence: Dorothy E Grice. 1 Gustave L. Levy Place Box 1230 New York, NY 10029
    Affiliations
    Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA

    Division of Tics, OCD, and Related Disorders, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA
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      Abstract

      DDX3X syndrome is a surprisingly common newly discovered genetic neurodevelopmental disorder associated with intellectual disability, autism spectrum disorder, language delays, attention-deficit/hyperactivity disorder, and medical comorbidities. Two hundred individuals with DDX3X syndrome have been described in the literature to date, with varied levels of detail. Individuals with DDX3X syndrome often have complex presentations including symptoms in the neurological, psychiatric/psychological, ophthalmologic, and gastrointestinal domains. Due to this complex presentation, an overview of symptom prevalence, medical recommendations, and suggested medical surveillance is vital for the care and health of individuals with DDX3X syndrome. In this article, we summarize the present clinical knowledge of DDX3X syndrome and provide recommendations for clinical assessments and care based on a comprehensive review of the existing literature and of new, not yet published DDX3X syndrome cohorts. As more is learned about DDX3X syndrome, we anticipate that these recommendations will evolve.

      Keywords

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