Prader-Willi Syndrome : Clinical Aspects
Joint Authors
Bruna, Cammarata
Giuseppe, Chiumello
Stefania, Di Candia
Benedetta, Mariani
Elena, Grechi
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-13, 13 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-10-23
Country of Publication
Egypt
No. of Pages
13
Main Subjects
Abstract EN
Prader-Willi Syndrome (PWS) is a complex multisystem genetic disorder that shows great variability, with changing clinical features during a patient’s life.
The syndrome is due to the loss of expression of several genes encoded on the proximal long arm of chromosome 15 (15q11.2–q13).
The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for hormonal dysfunctions and for absence of the sense of satiety.
For this reason a Prader-Willi (PW) child develops hyperphagia during the initial stage of infancy that can lead to obesity and its complications.
During infancy many PW child display a range of behavioural problems that become more noticeable in adolescence and adulthood and interfere mostly with quality of life.
Early diagnosis of PWS is important for effective long-term management, and a precocious multidisciplinary approach is fundamental to improve quality of life, prevent complications, and prolong life expectancy.
American Psychological Association (APA)
Elena, Grechi& Bruna, Cammarata& Benedetta, Mariani& Stefania, Di Candia& Giuseppe, Chiumello. 2012. Prader-Willi Syndrome : Clinical Aspects. Journal of Obesity،Vol. 2012, no. 2012, pp.1-13.
https://search.emarefa.net/detail/BIM-474386
Modern Language Association (MLA)
Elena, Grechi…[et al.]. Prader-Willi Syndrome : Clinical Aspects. Journal of Obesity No. 2012 (2012), pp.1-13.
https://search.emarefa.net/detail/BIM-474386
American Medical Association (AMA)
Elena, Grechi& Bruna, Cammarata& Benedetta, Mariani& Stefania, Di Candia& Giuseppe, Chiumello. Prader-Willi Syndrome : Clinical Aspects. Journal of Obesity. 2012. Vol. 2012, no. 2012, pp.1-13.
https://search.emarefa.net/detail/BIM-474386
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-474386