Prader–Willi syndrome: genotype, cause, phenotype and management
Prader–Willi syndrome: genotype, cause, phenotype and management
Prader–Willi syndrome (PWS) is a complex neurodevelopmental genetic condition that results in a range of phenotypic features including hypotonia, hyperphagia and behavioural difficulties. PWS is caused by the paternal loss of imprinting genes from the chromosome 15q11.2–13. If left unmanaged, the central obesity caused by hyperphagia and the behavioural features such as foraging and stealing of foods will dominate the life of the person with PWS and his/her family, resulting in practical and psychological difficulties. In this article, Delia Pogson outlines the pathogenesis of this rare disorder and discusses the multidisciplinary approach required to manage and treat this condition.
prader–willi syndrome, genomic imprinting, hyperphagia central obesity, intellectual disability
44-49
Pogson, Delia
8c2d4f13-1952-4e6f-a45f-b63c63b01ff2
16 August 2013
Pogson, Delia
8c2d4f13-1952-4e6f-a45f-b63c63b01ff2
Pogson, Delia
(2013)
Prader–Willi syndrome: genotype, cause, phenotype and management.
Gastrointestinal Nursing, 10 (3), .
(doi:10.12968/gasn.2012.10.3.44).
Abstract
Prader–Willi syndrome (PWS) is a complex neurodevelopmental genetic condition that results in a range of phenotypic features including hypotonia, hyperphagia and behavioural difficulties. PWS is caused by the paternal loss of imprinting genes from the chromosome 15q11.2–13. If left unmanaged, the central obesity caused by hyperphagia and the behavioural features such as foraging and stealing of foods will dominate the life of the person with PWS and his/her family, resulting in practical and psychological difficulties. In this article, Delia Pogson outlines the pathogenesis of this rare disorder and discusses the multidisciplinary approach required to manage and treat this condition.
Text
Praderwill syndrom genotype cause phenotype and managementi.pdf
- Accepted Manuscript
More information
Published date: 16 August 2013
Keywords:
prader–willi syndrome, genomic imprinting, hyperphagia central obesity, intellectual disability
Organisations:
Faculty of Health Sciences
Identifiers
Local EPrints ID: 382638
URI: http://eprints.soton.ac.uk/id/eprint/382638
ISSN: 1042-895X
PURE UUID: 4f34f7e9-1321-4295-8e03-cd8d53631b13
Catalogue record
Date deposited: 23 Oct 2015 14:27
Last modified: 14 Mar 2024 21:30
Export record
Altmetrics
Contributors
Author:
Delia Pogson
Download statistics
Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.
View more statistics