Prader-Willi Syndrome: guidance for children and transition into adulthood
File(s)
Published version
Author(s)
Type
Journal Article
Abstract
Prader Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000-30,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood. Children and adolescents (CA) with PWS usually display developmental delay and mild learning disability, and can develop endocrinopathies, scoliosis, respiratory difficulties (both central and obstructive sleep apnoea), challenging behaviours, skin picking, and mental health issues especially into adulthood. This consensus statement is intended to be a reference document for clinicians managing children and adolescents (up to 18 years of age) with PWS. It considers the bio-psycho-social domains of diagnosis, clinical assessment, and management in the paediatric setting as well as during and after transition to adult services. The guidance has been developed from information gathered from peer-reviewed scientific reports and from the expertise of a range of experienced clinicians in the United Kingdom and Ireland involved in the care of patients with PWS.
Date Issued
2024-07-10
Date Acceptance
2024-06-05
Citation
Endocrine Connections, 2024, 13 (8)
ISSN
2049-3614
Publisher
Bioscientifica
Journal / Book Title
Endocrine Connections
Volume
13
Issue
8
Copyright Statement
© 2024 the author(s). Published by Bioscientifica Ltd. Open Access. This work is licensed under a Creative Commons
Attribution-NonCommercial 4.0 International License.
https://creativecommons.org/licenses/by-nc/4.0
Attribution-NonCommercial 4.0 International License.
https://creativecommons.org/licenses/by-nc/4.0
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/38838713
Publication Status
Published
Coverage Spatial
England
Article Number
e240091
Date Publish Online
2024-06-05