ReviewAmerican journal of medical genetics. Part A2018
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.
Review in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- The burden of illness in Prader-Willi syndrome: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome.PloS one · 2019Trial
- Correlations between endocrine-metabolic characteristics and body fat distribution, appetite, growth, and memory in children with Prader-Willi syndrome.Clinics (Sao Paulo, Brazil) · 2026Article
- Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.Journal of endocrinological investigation · 2026Article
- Emergency Department Care for Patients With Prader-Willi Syndrome: A 2019-2021 National Emergency Department Sample Analysis.Journal of autism and developmental disorders · 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
- Age-dependent dissociation between sleep-disordered breathing severity and ventilatory impairment in children with Prader-Willi syndrome.Frontiers in pediatrics · 2026Article
- Efficacy and safety of semaglutide for obesity and hyperphagia in adults with Prader-Willi syndrome.Frontiers in endocrinology · 2026Observational
- Beta cells to brain cells: The pivotal role of insulin and glucose metabolism in Alzheimer's disease.Neuroprotection (Chichester, England) · 2025Review
- Inpatient Hospitalizations for COVID-19 Among Patients With Prader-Willi Syndrome: A National Inpatient Sample Analysis.American journal of medical genetics. Part A · 2025Article
- Inpatient Hospitalizations for COVID-19 Among Patients with Prader-Willi Syndrome: a National Inpatient Sample Analysis.medRxiv : the preprint server for health sciences · 2024Article
- Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study.Molecular cytogenetics · 2024Article
- Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Prader-Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review.International journal of molecular sciences · 2023Review
- Progress in Brain Magnetic Resonance Imaging of Individuals with Prader-Willi Syndrome.Journal of clinical medicine · 2023Review
- Clinical Trials in Prader-Willi Syndrome: A Review.International journal of molecular sciences · 2023Review
- Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.American journal of medical genetics. Part A · 2022Article
- Demographics and medical comorbidities among hospitalized patients with Prader-Willi Syndrome: A National Inpatient Sample analysis.American journal of medical genetics. Part A · 2022Article
- Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.Bioscience reports · 2022Review
- Molecular Classes and Growth Hormone Treatment Effects on Behavior and Emotion in Patients with Prader-Willi Syndrome.Journal of clinical medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
We describe the National Institutes of Health rare disease consortium for Prader-Willi syndrome (PWS) developed to address concerns regarding medical care, diagnosis, growth and development, awareness, and natural history. PWS results from errors in genomic imprinting leading to loss of paternally expressed genes due to 15q11-q13 deletion, maternal disomy 15 or imprinting defects. The 8 year study was conducted at four national sites on individuals with genetically confirmed PWS and early-onset morbid obesity (EMO) with data accumulated to gain a better understanding of the natural history, cause and treatment of PWS. Enrollment of 355 subjects with PWS and 36 subjects with EMO began in September 2006 with study completion in July 2014. Clinical, genetic, cognitive, behavior, and natural history data were systematically collected along with PWS genetic subtypes, pregnancy and birth history, mortality, obesity, and cognitive status with study details as important endpoints in both subject groups. Of the 355 individuals with PWS, 217 (61%) had the 15q11-q13 deletion, 127 (36%) had maternal disomy 15, and 11 (3%) had imprinting defects. Six deaths were reported in our PWS cohort with 598 cumulative years of study exposure and one death in the EMO group with 42 years of exposure. To our knowledge, this description of a longitudinal study in PWS represents the largest and most comprehensive cohort useful for investigators in planning comparable studies in other rare disorders. Ongoing studies utilizing this database should have a direct impact on care and services, diagnosis, treatment, genotype-phenotype correlations, and clinical outcomes in PWS.
Indexed as
Identifiers
What OpenQuestion holds
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.