Encyclopedia of Clinical Neuropsychology

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

Prader-Willi Syndrome

  • Kristen SmithEmail author
  • Bonita P. “Bonnie” Klein-Tasman
Reference work entry
DOI: https://doi.org/10.1007/978-3-319-57111-9_1588

Synonyms

Prader-Willi-Labhart syndrome; PWS

Short Description or Definition

Prader-Willi syndrome (PWS) is a genetic disorder resulting from a sporadic hemizygous deletion or aberration on paternal chromosome 15, specifically the region 15q11.2–13. Characteristic facial features include a long face, narrow forehead, and almond-shaped eyes (Cassidy and Schwartz 1998). Common features include short stature, hypotonia, hypogonadism, hyperphagia, obesity, and cognitive delays (Driscoll et al. 2016). Additionally, thermoinstability, hypopigmentation, strabismus, and speech difficulties have been observed. A range of behavioral features have been described, including higher rates of both internalizing and externalizing behavior problems.

Categorization

The critical region 15q11–13, implicated in both PWS and Angelman syndrome, is involved in a process known as genetic imprinting, which occurs when the expression of genes is dependent upon the parent of origin. Both a maternal and a paternal...

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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

  • Kristen Smith
    • 1
    Email author
  • Bonita P. “Bonnie” Klein-Tasman
    • 2
  1. 1.Department of Psychology and the Neuroscience InstituteGeorgia State UniversityAtlantaUSA
  2. 2.Department of PsychologyUniversity of Wisconsin-MilwaukeeMilwaukeeUSA