Prevalence Estimation of Williams Syndrome
Abstract
There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations. One was an epidemiologic study originally designed to assess the prevalence and etiology of mental retardation among 30,037 Norwegian children born between 1980 and 1985 and living in Akershus County on January 1, 1993. The other investigation was a national survey of Williams syndrome. In the first study, 213 children were referred for evaluation, whereas the second study comprised 57 cases with Williams syndrome born between 1970 and 1992, who were referred for evaluation from all Norwegian counties. The epidemiologic study revealed three children with Williams syndrome, whereas one additional case complying with our demographic criteria was identified in the national survey, thus giving a prevalence of 1 in 7500. In all cases, a typical chromosome 7q11.23 deletion was detected. We also conclude that Williams syndrome is not an uncommon cause of mental retardation, with a prevalence of approximately 6% of patients with genetic etiology. (J Child Neurol 2002;17:269-271).
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WS has a prevalence of about 1 in 7,500.
“WS (also known as Williams–Beuren syndrome), with a prevalence of about 1 in 7,500 [683]”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [683]
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- Authors
- Strømme, P., Bjømstad, P. G., & Ramstad, K.
- Affiliations
- Oslo University Hospital (NO)
- Akershus University Hospital (NO)
- Corresponding author
- Strømme, Petter
- Venue
- Journal of Child Neurology
- Publisher
- SAGE Publications
- Published
- 2002-04
- Volume
- 17
- Issue
- 4
- Pages
- 269-271
- ISSN
- 0883-0738 (ISSN-L)
- 1708-8283
- OpenAlex
- W2032989977
- Cited by
- 779
- References
- 17
- Citations by year
- 2026: 26 · 2025: 26 · 2024: 34 · 2023: 34 · 2022: 32 · 2021: 35 · 2020: 30 · 2019: 31 · 2018: 38 · 2017: 54 · 2016: 56 · 2015: 41 · 2014: 45 · 2013: 45 · 2012: 51
- FWCI
- 1.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Child Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- Williams syndrome, prevalence, chromosome 7q11.23 deletion, intellectual disability, children, Norway
- MeSH terms
- Child, Chromosome Deletion, Chromosomes, Human, Pair 7, Humans, Norway, Prevalence, Williams Syndrome
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