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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

M Guftar Shaikh  1   2 , Timothy G Barrett  3   4 , Nicola Bridges  5 , Robin Chung  6 , Evelien F Gevers  7   8 , Anthony P Goldstone  9   10 , Anthony Holland  11 , Shankar Kanumakala  12 , Ruth Krone  3 , Andreas Kyriakou  1   13 , E Anne Livesey  12   14 , Angela K Lucas-Herald  1   2 , Christina Meade  15 , Susan Passmore  16 , Edna Roche  15   17 , Chris Smith  12 , Sarita Soni  18
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.
See this image and copyright information in PMC

References

    1. Butler MG Miller JL & Forster JL. Prader-Willi syndrome - clinical genetics, diagnosis and treatment approaches: an update. Current Pediatric Reviews 201915207–244. (10.2174/1573396315666190716120925) - DOI - PMC - PubMed
    1. Bar C Diene G Molinas C Bieth E Casper C & Tauber M. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet Journal of Rare Diseases 201712118. (10.1186/s13023-017-0673-6) - DOI - PMC - PubMed
    1. Whittington JE Holland AJ Webb T Butler J Clarke D & Boer H. Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health Region. Journal of Medical Genetics 200138792–798. (10.1136/jmg.38.11.792) - DOI - PMC - PubMed
    1. Çizmecioğlu FM Jones JH Paterson WF Kherra S Kourime M McGowan R Shaikh MG & Donaldson M. Neonatal features of the Prader-Willi syndrome; the case for making the diagnosis during the first week of life. Journal of Clinical Research in Pediatric Endocrinology 201810264–273. (10.4274/jcrpe.0029) - DOI - PMC - PubMed
    1. Goldstone AP, Holland AJ, Hauffa BP, Hokken-Koelega AC, Tauber M. & speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS. Recommendations for the diagnosis and management of Prader-Willi syndrome. Journal of Clinical Endocrinology and Metabolism 2008934183–4197. (10.1210/jc.2008-0649) - DOI - PubMed

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