The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Prader-Willi Syndrome: Consensus Diagnostic Criteria
Open accessAbstract
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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“PWS is characterized by infantile hypotonia, mental retardation, short stature, hypogonadism, hyperphagia and early-onset morbid obesity [669].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [669]
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Obesity in children and young people: a crisis in public health
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Self-citationPsychosis and autism as diametrical disorders of the social brain
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Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings
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Metadata
- 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
- 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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