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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Language: | English |
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Wiley
2012-01-01
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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. |
format | Article |
id | doaj-art-2bb4dc9ad2dc462a84b89f2d187c73b6 |
institution | Kabale University |
issn | 2090-0708 2090-0716 |
language | English |
publishDate | 2012-01-01 |
publisher | Wiley |
record_format | Article |
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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