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Prader–Willi syndrome: genotype, cause, phenotype and management

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
1042-895X
44-49
Pogson, Delia
8c2d4f13-1952-4e6f-a45f-b63c63b01ff2
Pogson, Delia
8c2d4f13-1952-4e6f-a45f-b63c63b01ff2

Pogson, Delia (2013) Prader–Willi syndrome: genotype, cause, phenotype and management. Gastrointestinal Nursing, 10 (3), 44-49. (doi:10.12968/gasn.2012.10.3.44).

Record type: Article

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.

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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

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Date deposited: 23 Oct 2015 14:27
Last modified: 14 Mar 2024 21:30

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Author: Delia Pogson

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