ReviewJournal of endocrinological investigation2021
Obesity in Prader-Willi syndrome: physiopathological mechanisms, nutritional and pharmacological approaches.
Review in Journal of endocrinological investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis 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.
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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
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 92 citations in OpenAlex.
- The burden of illness in Prader-Willi syndrome: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Sustained weight loss exceeding 100 kg with sequential incretin-based therapy in Prader-Willi syndrome.JCEM case reports · 2026Article
- Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome.Medicine · 2026Article
- Challenges in managing endocrine and metabolic dysfunction in a child with Prader-Willi syndrome and medulloblastoma.JCEM case reports · 2026Article
- Correlations between endocrine-metabolic characteristics and body fat distribution, appetite, growth, and memory in children with Prader-Willi syndrome.Clinics (Sao Paulo, Brazil) · 2026Article
- Low dose systemic AAV-exendin-4 gene therapy for Prader-Willi syndrome and dietary obesity.Molecular therapy. Advances · 2026Article
- Management of Childhood Obesity.International journal of molecular sciences · 2026Review
- Dual Genetic Diagnosis of Prader-Willi Syndrome and TMC1-Related Severe Congenital Hearing Loss: Diagnostic Challenges and Cochlear Implant Outcomes.Diagnostics (Basel, Switzerland) · 2026Article
- Patient reported outcomes that matter to individuals with (genetic) intellectual disabilities: a qualitative study.Journal of neurodevelopmental disorders · 2025Article
- Patient reported outcomes used in clinical trials and core outcome sets for individuals with genetic intellectual disability: a scoping review.Journal of neurodevelopmental disorders · 2025Article
- Prenatal Phenotype in a Neonate with Prader-Willi Syndrome and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Sensorineural deafness in a child with Prader-Willi Syndrome-A rare case report.Journal of family medicine and primary care · 2025Article
- Anxiety, Depression and Stress in Parents and Siblings of People Who Have Prader-Willi Syndrome: Morbidity Prevalence and Mitigating Factors.Journal of intellectual disability research : JIDR · 2025Article
- Towards a genetic obesity risk score in a single-center study of children and adolescents with obesity.Scientific reports · 2025Article
- Comparison of Body Composition, Basal Metabolic Rate and Metabolic Outcomes of Adults with Prader-Willi Syndrome and Age- and BMI-Matched Patients with Essential Obesity.Journal of clinical medicine · 2025Article
- Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with prader-Willi Syndrome.Journal of endocrinological investigation · 2025Article
- Resting Energy Expenditure and Metabolic Features in Children With Septo-Optic Dysplasia.Journal of the Endocrine Society · 2025Article
- GnRH and Cognition.Endocrinology · 2025Review
- Management of a complex tibial fracture in a patient with Prader-Willi syndrome and severe obesity.Journal of Yeungnam medical science · 2025Article
- Food responsiveness, addiction, and hyperphagia in Prader-Willi syndrome: a cross-sectional study of 210 Chinese patients.Frontiers in endocrinology · 2025Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. The three main genetic subtypes are represented by paternal 15q11-q13 deletion, maternal uniparental disomy 15, and imprinting defect. Clinical picture of PWS changes across life stages. The main clinical characteristics are represented by short stature, developmental delay, cognitive disability and behavioral diseases. Hypotonia and poor suck resulting in failure to thrive are typical of infancy. As the subjects with PWS age, clinical manifestations such as hyperphagia, temperature instability, high pain threshold, hypersomnia and multiple endocrine abnormalities including growth hormone and thyroid-stimulating hormone deficiencies, hypogonadism and central adrenal insufficiency due to hypothalamic dysfunction occur. Obesity and its complications are the most common causes of morbidity and mortality in PWS. Several mechanisms for the aetiology of obesity in PWS have been hypothesized, which include aberration in hypothalamic pathways of satiety control resulting in hyperphagia, disruption in hormones regulating appetite and satiety and reduced energy expenditure. However, despite the advancement in the research field of the genetic basis of obesity in PWS, there are contradictory data on the management. Although it is mandatory to adopt obesity strategy prevention from infancy, there is promising evidence regarding the management of obesity in adulthood with current obesity drugs along with lifestyle interventions, although the data are limited. Therefore, the current manuscript provides a review of the current evidence on obesity and PWS, covering physiopathological aspects, obesity-related complications and conservative management.
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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.