Prader-Willi Syndrome: Clinical Aspects

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 phe...

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Main Authors: Grechi Elena, Cammarata Bruna, Mariani Benedetta, Di Candia Stefania, Chiumello Giuseppe
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Journal of Obesity
Online Access:http://dx.doi.org/10.1155/2012/473941
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author Grechi Elena
Cammarata Bruna
Mariani Benedetta
Di Candia Stefania
Chiumello Giuseppe
author_facet Grechi Elena
Cammarata Bruna
Mariani Benedetta
Di Candia Stefania
Chiumello Giuseppe
author_sort Grechi Elena
collection DOAJ
description 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.
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2090-0716
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publishDate 2012-01-01
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series Journal of Obesity
spelling doaj-art-2bb4dc9ad2dc462a84b89f2d187c73b62025-02-03T05:50:12ZengWileyJournal of Obesity2090-07082090-07162012-01-01201210.1155/2012/473941473941Prader-Willi Syndrome: Clinical AspectsGrechi Elena0Cammarata Bruna1Mariani Benedetta2Di Candia Stefania3Chiumello Giuseppe4Endocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, ItalyEndocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, ItalyEndocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, ItalyEndocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, ItalyEndocrine Unit, Department of Pediatrics, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, 20132 Milan, ItalyPrader-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.http://dx.doi.org/10.1155/2012/473941
spellingShingle Grechi Elena
Cammarata Bruna
Mariani Benedetta
Di Candia Stefania
Chiumello Giuseppe
Prader-Willi Syndrome: Clinical Aspects
Journal of Obesity
title Prader-Willi Syndrome: Clinical Aspects
title_full Prader-Willi Syndrome: Clinical Aspects
title_fullStr Prader-Willi Syndrome: Clinical Aspects
title_full_unstemmed Prader-Willi Syndrome: Clinical Aspects
title_short Prader-Willi Syndrome: Clinical Aspects
title_sort prader willi syndrome clinical aspects
url http://dx.doi.org/10.1155/2012/473941
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AT chiumellogiuseppe praderwillisyndromeclinicalaspects