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

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Prader-Willi Syndrome: Consensus Diagnostic Criteria

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

DOI 10.1542/peds.91.2.398PMC PMC6714046

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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.

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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)
ORCID: Butler, Merlin G.
Venue: Pediatrics
Publisher: American Academy of Pediatrics (AAP)
Published: 1993-02-01
Volume: 91
Issue: 2
Pages: 398-402
ISSN: 0031-4005 (ISSN-L)
1098-4275
DOI: 10.1542/peds.91.2.398
PMC: PMC6714046
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: green
www.ncbi.nlm.nih.gov
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

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Prader-Willi Syndrome: Consensus Diagnostic Criteria

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