Requirements for improving health and well-being of children with Prader-Willi syndrome and their families.
Prader-Willi syndrome
endocrine
hyperphagia
quality of life
sleep disordered breathing
Journal
Journal of paediatrics and child health
ISSN: 1440-1754
Titre abrégé: J Paediatr Child Health
Pays: Australia
ID NLM: 9005421
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
25
02
2019
revised:
15
05
2019
accepted:
02
06
2019
pubmed:
2
7
2019
medline:
7
2
2021
entrez:
2
7
2019
Statut:
ppublish
Résumé
Prader-Willi syndrome (PWS) is a rare genetic condition with multi-system involvement. The literature was reviewed to describe neurodevelopment and the behavioural phenotype, endocrine and metabolic disorders and respiratory and sleep functioning. Implications for child and family quality of life were explored. Challenging behaviours contribute to poorer well-being and quality of life for both the child and caregiver. Recent evidence indicates healthy outcomes of weight and height can be achieved with growth hormone therapy and dietary restriction and should be the current target for all individuals with PWS. Gaps in the literature included therapies to manage challenging behaviours, as well as understanding the effects of growth hormone on respiratory and sleep function. New knowledge regarding the transition of children and families from schooling and paediatric health services to employment, accommodation and adult health services is also needed. Developing a national population-based registry could address these knowledge gaps and inform advocacy for support services that improve the well-being of individuals with PWS and their families.
Identifiants
pubmed: 31257692
doi: 10.1111/jpc.14546
pmc: PMC6852695
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1029-1037Subventions
Organisme : Perth Children's Hospital Foundation
Organisme : Prader Willi Association USA
Informations de copyright
© 2019 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).
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