Evidence map›Paper›PMID 31333129›Full record

ReviewCurrent pediatric reviews2019

Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.

Merlin G Butler, Jennifer L Miller, Janice L Forster

Open access · hybridAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Current pediatric reviews, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 178 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
178citing papers in PubMed, 4 pooled it
24.5field-weighted citation impact, top 1% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

178 citing papers in PubMed, 4 syntheses or guidelines pooled it, 332 citations in OpenAlex.

  1. Pooled it
  2. Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.European psychiatry : the journal of the Association of European Psychiatrists · 2025
    Pooled it
  3. Pooled it
  4. The outcomes of growth hormone therapy in the obstructive sleep apnea parameters of Prader-Willi syndrome patients: a systematic review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024
    Pooled it
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  8. Liraglutide for Weight Management in Children and Adolescents With Prader-Willi Syndrome and Obesity.The Journal of clinical endocrinology and metabolism · 2022 · on this map
    Trial
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118 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors at 2 institutions in 1 country.

Merlin G ButlerDepartments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, United States.
Jennifer L MillerDepartment of Pediatrics, University of Florida School of Medicine, Gainesville, FL, United States.
Janice L ForsterPittsburgh Partnership, Pittsburgh, PA, United States.
University of Florida · USUniversity of Kansas Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both 15s from the mother (about 35%). An imprinting center controls the expression of imprinted genes in the chromosome 15q11-q13 region. Key findings include infantile hypotonia, a poor suck, failure to thrive and hypogonadism/hypogenitalism. Short stature and small hands/feet due to growth and other hormone deficiencies, hyperphagia and marked obesity occur in early childhood, if uncontrolled. Cognitive and behavioral problems (tantrums, compulsions, compulsive skin picking) are common.

objectiveHyperphagia and obesity with related complications are major causes of morbidity and mortality in PWS. This report will describe an accurate diagnosis with determination of specific genetic subtypes, appropriate medical management and best practice treatment approaches. METHODS AND

resultsAn extensive literature review was undertaken related to genetics, clinical findings and laboratory testing, clinical and behavioral assessments and summary of updated health-related information addressing the importance of early PWS diagnosis and treatment. A searchable, bulleted and formatted list of topics is provided utilizing a Table of Contents approach for the clinical practitioner.

conclusionPhysicians and other health care providers can use this review with clinical, genetic and treatment summaries divided into sections pertinent in the context of clinical practice. Frequently asked questions by clinicians, families and other interested participants or providers will be addressed.

Indexed as

Disease ProgressionGenetic TestingAdolescentChildDevelopmental DisabilitiesDisease ManagementEvidence-Based MedicineFeeding BehaviorGenetic CounselingGenomic ImprintingGuidelines as TopicHumansInfantInterdisciplinary CommunicationMorbidityObesitycaloric intakecare managementDiagnostic protocolsgenetic testinggenomic imprintingmedicationobesityPrader-Willi syndrometreatment approaches.

Identifiers

PMID31333129
PMCPMC7040524
OpenAlexW2963932255

What Socratic holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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 Socratic graph.