Cited by 779Williams Syndrome ResearchGenetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Prevalence Estimation of Williams Syndrome

Strømme, Petter, Bjømstad, Per G., Ramstad, Kjersti·2002·Journal of Child Neurology

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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Crossref · 10.1177/088307380201700406

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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
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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