Encyclopedia of Clinical Neuropsychology

2018 Edition
| Editors: Jeffrey S. Kreutzer, John DeLuca, Bruce Caplan

Down Syndrome

  • Kelly M. JankeEmail author
  • Bonita P. “Bonnie” Klein-Tasman
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_1542


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).


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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References and Readings

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Kelly M. Janke
    • 1
    Email author
  • Bonita P. “Bonnie” Klein-Tasman
    • 2
  1. 1.Columbia University Medical CenterNew YorkUSA
  2. 2.Department of PsychologyUniversity of Wisconsin-MilwaukeeMilwaukeeUSA