Cited by 1,278Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Open access
Holm, Vanja A., Cassidy, Suzanne B., Butler, Merlin G., Hanchett, Jeanne M., Greenswag, Louise R., Whitman, Barbara Y., Greenberg, Frank·1993·Pediatrics

Abstract

The diagnosis of Prader-Willi syndrome (PWS) is based on clinical findings that change with age. Hypotonia is prominent in infancy. Obesity, mild mental retardation or learning disability, and behavior problems, especially in association with food and eating result in a debilitating physical and developmental disability in adolescence and adulthood. No consistent biological marker is yet available for PWS in spite of recent research activity in cytogenetics and molecular genetics. Diagnostic criteria for PWS were developed by consensus of seven clinicians experienced with the syndrome in consultation with national and international experts. Two scoring systems are provided: one for children aged 0 to 36 months and another one for children aged 3 years to adults. These criteria will aid in recognition of the syndrome in hypotonic infants and in obese, mildly retarded, behaviorally disturbed adolescents and adults. They will also ensure uniform diagnosis for future clinical and laboratory research in PWS.

Integrity signals

Registry

Crossref · 10.1542/peds.91.2.398

Cites

31 of 31 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Holm, V. A., Cassidy, S. B., Butler, M. G., Hanchett, J. M., Greenswag, L. R., Whitman, B. Y., & Greenberg, F.
Affiliations
University of Washington (US)
Venue
Pediatrics
Published
1993-02-01
Volume
91
Issue
2
Pages
398-402
ISSN
  • 0031-4005 (ISSN-L)
  • 1098-4275
OpenAlex
W2169243271
Cited by
1,278
References
31
Citations by year
2026: 12 · 2025: 14 · 2024: 24 · 2023: 34 · 2022: 38 · 2021: 47 · 2020: 42 · 2019: 31 · 2018: 43 · 2017: 33 · 2016: 49 · 2015: 35 · 2014: 32 · 2013: 45 · 2012: 45
FWCI
13.67
Type
journal article
Language
en
Open access
Locations
  • PEDIATRICS (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD030329)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
Prader-Willi syndrome, diagnostic criteria, hypotonia, infantile obesity, intellectual disability, eating behavior problems, developmental disabilities, scoring system, consensus diagnosis, molecular genetics, cytogenetics
MeSH terms
Adolescent, Adult, Age Factors, Child, Child Behavior Disorders, Child, Preschool, Clinical Competence, Clinical Protocols, Evaluation Studies as Topic, Humans, Infant, Infant, Newborn, Intellectual Disability, Muscle Hypotonia, Obesity, Prader-Willi Syndrome, Sensitivity and Specificity, Severity of Illness Index

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review