ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 109 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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
109 citing papers in PubMed, 3 syntheses or guidelines pooled it, 173 citations in OpenAlex.
- The burden of illness in Prader-Willi syndrome: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- 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
- Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study.The Journal of clinical endocrinology and metabolism · 2026Trial
- Diazoxide Choline Extended-Release Tablet in People With Prader-Willi Syndrome: A Double-Blind, Placebo-Controlled Trial.The Journal of clinical endocrinology and metabolism · 2023Trial
- The Efficacy, Safety, and Pharmacology of a Ghrelin O-Acyltransferase Inhibitor for the Treatment of Prader-Willi Syndrome.The Journal of clinical endocrinology and metabolism · 2022Trial
- Trial
- Effects of MetAP2 inhibition on hyperphagia and body weight in Prader-Willi syndrome: A randomized, double-blind, placebo-controlled trial.Diabetes, obesity & metabolism · 2017Trial
- Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome.Medicine · 2026Article
- 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
- Diazoxide choline extended-release (DCCR) use in Prader-Willi syndrome: patient selection, dosing, and management.Journal of the Endocrine Society · 2026Review
- 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
- Autonomic Control of Heart Rate During Sleep Is Depressed in Young Children With Prader-Willi Syndrome.Journal of sleep research · 2026Article
- Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.International journal of molecular sciences · 2026Review
- Laparoscopic sleeve gastrectomy in adults with Prader-Willi syndrome and super-morbid obesity: a case report and literature review.Frontiers in endocrinology · 2026Review
- Efficacy and safety of semaglutide for obesity and hyperphagia in adults with Prader-Willi syndrome.Frontiers in endocrinology · 2026Observational
- A Clinical Prediction Model for Genetic Risk in Children with GDD/ID: A Retrospective Study.Pediatric reports · 2025Article
- Article
- A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan.Endocrine journal · 2025Article
- Effective Conservative Management of Severe Scoliosis in a Girl with Prader-Willi Syndrome: A 20-Year Case Study Follow-Up.Journal of clinical medicine · 2025Article
49 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPrader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS.
methodsThe US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards.
resultsA total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype.
conclusionsThese findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.