ArticleThe Journal of clinical endocrinology and metabolism2020
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.Frontiers in endocrinology · 2023Pooled it
- Growth Hormone Treatment for Adults With Prader-Willi Syndrome: A Meta-Analysis.The Journal of clinical endocrinology and metabolism · 2021Pooled it
- Hyperphagia in Prader-Willi syndrome: linking hypothalamic dysfunction to clinical assessment and management across the lifespan.Orphanet journal of rare diseases · 2026Review
- Magel2 deficiency promotes cardiac remodeling and increases arrhythmogenic susceptibility in a mouse model relevant to Prader-Willi and Schaaf-Yang syndromes.Clinical science (London, England : 1979) · 2026Article
- Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.Journal of endocrinological investigation · 2026Article
- Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.Journal of obesity & metabolic syndrome · 2026Article
- Efficacy and safety of semaglutide for obesity and hyperphagia in adults with Prader-Willi syndrome.Frontiers in endocrinology · 2026Observational
- Endocrine-informed monitoring of scoliosis in Prader-Willi syndrome: integrating neuroendocrine pathophysiology, growth hormone therapy, and pubertal transition.Frontiers in endocrinology · 2026Review
- Innovative models to explore hepatic involvement in Prader-Willi syndrome.Frontiers in endocrinology · 2026Review
- Optimal timing of recombinant growth hormone therapy in Prader-Willi syndrome: the case for very early initiation.Frontiers in endocrinology · 2026Article
- Article
- Serum Lipoprotein(a) and High-Sensitivity C-reactive Protein Correlate With Somatic Parameters Including MLPA Subgroups in Children With Prader-Willi Syndrome.Journal of the Endocrine Society · 2025Article
- Comorbidities, Endocrine Medications, and Mortality in Prader-Willi Syndrome-A Swedish Register Study.Journal of clinical medicine · 2025Article
- Prader-Willi syndrome: guidance for children and transition into adulthood.Endocrine connections · 2024Article
- Early onset stage III diabetic nephropathy in a child with Prader-Willi syndrome treated with dulaglutide: a case report.Translational pediatrics · 2024Article
- The Pivotal Role of Oxytocin's Mechanism of Thermoregulation in Prader-Willi Syndrome, Schaaf-Yang Syndrome, and Autism Spectrum Disorder.International journal of molecular sciences · 2024Review
- Body weight, behaviours of concern, and social contact in adults and adolescents with Prader-Willi syndrome in full-time care services: Findings from pooled international archival data.Orphanet journal of rare diseases · 2024Article
- Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.The Journal of clinical endocrinology and metabolism · 2023Review
- Multicentric Italian case-control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome.Journal of endocrinological investigation · 2023Article
- What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.Frontiers in endocrinology · 2023Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextPrader-Willi syndrome (PWS) is a complex hypothalamic disorder, combining hyperphagia, hypotonia, intellectual disability, and pituitary hormone deficiencies. Annual mortality of patients with PWS is high (3%). In half of the patients, the cause of death is obesity related and/or of cardiopulmonary origin. Health problems leading to this increased mortality often remain undetected due to the complexity and rareness of the syndrome.
objectiveTo assess the prevalence of health problems in adults with PWS retrospectively. PATIENTS, DESIGN, AND
settingWe systematically screened 115 PWS adults for undiagnosed health problems. All patients visited the multidisciplinary outpatient clinic for rare endocrine syndromes at the Erasmus University Medical Center, Rotterdam, Netherlands. We collected the results of medical questionnaires, interviews, physical examinations, biochemical measurements, polygraphy, polysomnography, and radiology.
main outcome measuresPresence or absence of endocrine and nonendocrine comorbidities in relation to living situation, body mass index, genotype, and demographic factors.
resultsSeventy patients (61%) had undiagnosed health problems, while 1 in every 4 patients had multiple undiagnosed health problems simultaneously. All males and 93% of females had hypogonadism, 74% had scoliosis, 18% had hypertension, 19% had hypercholesterolemia, 17% had type 2 diabetes mellitus, and 17% had hypothyroidism. Unfavorable lifestyles were common: 22% exercised too little (according to PWS criteria) and 37% did not see a dietitian.
conclusionsSystematic screening revealed many undiagnosed health problems in PWS adults. Based on patient characteristics, we provide an algorithm for diagnostics and treatment, with the aim to prevent early complications and reduce mortality in this vulnerable patient group.
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