Prader-Willi syndrome: care of adults in general practice

Scheermeyer, Elly (2013) Prader-Willi syndrome: care of adults in general practice. Australian Family Physician, 42 1-2: 51-54.

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Author Scheermeyer, Elly
Title Prader-Willi syndrome: care of adults in general practice
Journal name Australian Family Physician   Check publisher's open access policy
ISSN 0300-8495
Publication date 2013-01-01
Sub-type Article (original research)
Volume 42
Issue 1-2
Start page 51
End page 54
Total pages 4
Place of publication South Melbourne, VIC, Australia
Publisher Royal Australian College of General Practitioners
Language eng
Formatted abstract
Background Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity by decreasing fat mass and increasing muscle mass and physical ability. Adults, however, are treated predominantly for the many disabling secondary complications of the morbid obesity characteristic of this syndrome, and therefore require frequent care from their general practitioner.

Objective Despite improvements in the genetic diagnosis of infants with Prader-Willi syndrome, diagnosis in adults appears to be lacking or is based on uncertain clinical characteristics. This article provides information and advice that may assist in the diagnosis and management of Prader-Willi syndrome in adults.

Discussion The GP can play an important role in identifying Prader-Willi syndrome among adult patients who may have remained undiagnosed. Specific care and treatments can then be provided in the general practice setting.
Keyword Prader-Willi syndrome
Endocrine system diseases
Growth hormone
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Faculty of Health and Behavioural Sciences -- Publications
Queensland Children's Medical Research Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 0 times in Thomson Reuters Web of Science Article
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Created: Sun, 15 Sep 2013, 19:45:59 EST by Elly Scheermeyer on behalf of Child Health Research Centre