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.
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...
References and Readings
- For More Information, See the Prader-Willi Association; www.Pwsausa.Org
- Cassidy, S. B., & Schwartz, S. (1998). Prader-Willi and Angelman syndromes: Disorders of genomic imprinting. Reviews in Molecular Medicine, 77, 140–151.Google Scholar
- Driscoll, D., Miller, J. L., Schwartz, S., & Cassidy, S. B. (2016). Prader-Willi Syndrome. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, et al. (Eds.), GeneReviews® [Internet]. Seattle: University of Washington; 1993–2016. Available from http://www.ncbi.nlm.nih.gov/books/NBK1330/
- Dykens, E. M., & Cassidy, S. B. (1999). Prader-Willi syndrome. In S. Goldstein & C. R. Reynolds (Eds.), Handbook of neurodevelopmental and genetic disorders in children. New York: Guilford.Google Scholar
- Levitas, A., Dykens, E., Finucane, B., & Kates, W. (2007). Behavioral phenotype of genetic disorders. In R. Fletcher, E. Loschen, C. Stavrakaki, & M. First (Eds.), Diagnostic manual – Intellectual disability: A textbook of diagnoses of mental disorders in persons with intellectual disability. Kingston: NADD Press.Google Scholar
- Prader, A., Labhart, A., & Willi, H. (1956). Ein Syndrom von adipositas, Kleinwuchs, Kryptorchismus, und Oligophrenie nach myotonieartigen Zustand im Neugeborenenalter. Schweiz Med Wschr, 86, 1260–1261.Google Scholar
- Zarcone, J., Napolitano, D., Peterson, C., Breidbord, J., Ferraioli, S., Caruso-Anderson, M., et al. (2007). The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. Journal of Intellectual Disability Research, 51, 478–487.CrossRefGoogle Scholar