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Down Syndrome

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Encyclopedia of Clinical Neuropsychology

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Synonyms

Down’s Syndrome; Trisomy 21

Short Description or Definition

Down syndrome (DS) is a neurodevelopmental disorder that is the most prevalent genetic etiology of intellectual disability (ID). In addition to cognitive delays, DS is also associated with characteristic facial features such as a depressed nasal bridge, upslanting or downslanting palpebral fissures, epicanthic folds, tongue protrusion, and folding of the helix of the ear. Other features include congenital heart malformations, gastrointestinal defects, hearing and vision impairment, delayed motor function, language impairments, accelerated aging, and an increased risk for early onset Alzheimer’s Disease (AD).

Categorization

Down syndrome results from the presence of extra genetic material on chromosome 21, and three types of chromosome errors have been described (Sheets et al. 2011). The majority of individuals with DS (92–95%) have an extra chromosome repeated in every cell. This results from nondysjuntion, the...

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Author information

Authors and Affiliations

  1. Columbia University Medical Center, New York, NY, USA

    Kelly M. Janke

  2. Department of Psychology, University of Wisconsin-Milwaukee, Milwaukee, WI, USA

    Bonita P. “Bonnie” Klein-Tasman

Authors
  1. Kelly M. Janke
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  2. Bonita P. “Bonnie” Klein-Tasman
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Corresponding author

Correspondence to Kelly M. Janke .

Editor information

Editors and Affiliations

  1. Department of Physical Medicine and Rehabilitation, Virginia Commonwealth University, Richmond, VA, USA

    Jeffrey S. Kreutzer

  2. Kessler Foundation, Pleasant Valley Way, West Orange, NJ, USA

    John DeLuca

  3. Independent Practice, Wynnewood, PA, USA

    Bruce Caplan

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Janke, K.M., Klein-Tasman, B.P.“. (2018). Down Syndrome. In: Kreutzer, J.S., DeLuca, J., Caplan, B. (eds) Encyclopedia of Clinical Neuropsychology. Springer, Cham. https://doi.org/10.1007/978-3-319-57111-9_1542

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