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Phelan–McDermid syndrome: Clinical report of a 70-year-old woman

Authors

  • Willem M.A. Verhoeven,

    Corresponding author
    1. Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands
    2. Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands
    • Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Stationsweg 46, 5803AC Venray, The Netherlands.
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  • Jos I.M. Egger,

    1. Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands
    2. Donders Centre for Cognition, Radboud University Nijmegen, Nijmegen, The Netherlands
    3. Behavioural Science Institute, Radboud University Nijmegen, Nijmegen, The Netherlands
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  • Ruthy Cohen-Snuijf,

    1. Ipse de Bruggen, Centre for People With Intellectual Disabilities, Nieuwveen, The Netherlands
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  • Sarina G. Kant,

    1. Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
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  • Nicole de Leeuw

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • How to Cite this Article: Verhoeven WMA, Egger JIM, Cohen-Snuijf R, Kant SG, de Leeuw N. 2012. Phelan–Mcdermid syndrome: Clinical report of a 70-year-old woman. Am J Med Genet Part A 161A:158–161.

  • No conflicts of interest.

Abstract

Phelan–McDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data about adult patients are virtually absent. The expression of its phenotypical characteristics appears to be linearly related to the deletion size. Here, an intellectually disabled geriatric female patient is described with a long history of challenging behaviors in whom Phelan–McDermid syndrome was demonstrated. Detailed analysis of the patient's history and functioning resulted in a psychiatric diagnosis of atypical bipolar disorder and her behavior significantly improved upon maintenance treatment with a mood stabilizing agent. The present article confirms recent findings that atypical bipolar disorder may be part of the psychopathological phenotype of Phelan–McDermid syndrome, reason why careful etiological search is warranted, also in the geriatric population. © 2012 Wiley Periodicals, Inc.

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