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. 2024 Jul 10;13(8):e240091.
doi: 10.1530/EC-24-0091. Print 2024 Aug 1.

Prader-Willi syndrome: guidance for children and transition into adulthood

Affiliations

Prader-Willi syndrome: guidance for children and transition into adulthood

M Guftar Shaikh et al. Endocr Connect. .

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.

Keywords: Prader–Willi; hypogonadism; multidisciplinary team; psychosocial; scoliosis.

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Conflict of interest statement

MGS has received funding/speaker honoraria from Novo Nordisk, Sandoz, and Pfizer, and received honoraria for consultancies/advisory boards from Novo Nordisk, Pfizer, and Merck. RC has received funding on behalf of PWSA-UK from Radius Health (Medical Advisory Board). EFG has received funding/speaker honorarium from Novo Nordisk, Sandoz, Pfizer, and Soleno, and received honoraria for consultancies/advisory boards from Pfizer, Soleno Therapeutics, and Radius Health. APG has received funding from Novo Nordisk (Data Safety Monitoring Committee, speaker honorarium), Soleno Therapeutics (consultant), Millendo Therapeutics (Medical Advisory Board), Radius Health (Medical Advisory Board), Helsinn Healthcare S.A. (consultant), and Pfizer (research grant support). ER has received funding/speaker honoraria from Novo Nordisk and Pfizer.

Figures

Figure 1
Figure 1
Suggested headings and content of health reports for Education Plans.

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