Journal of Child Neurology, volume 17, issue 4, pages 269-271
Prevalence Estimation of Williams Syndrome
3
Department of Paediatrics (Dr Ramstad), Akershus Central Hospital, Norway
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Publication type: Journal Article
Publication date: 2002-04-01
Journal:
Journal of Child Neurology
Quartile SCImago
Q2
Quartile WOS
Q3
Impact factor: 1.9
ISSN: 08830738, 17088283
Neurology (clinical)
Pediatrics, Perinatology and Child Health
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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GOST
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Strømme P., Bjømstad P. G., Ramstad K. Prevalence Estimation of Williams Syndrome // Journal of Child Neurology. 2002. Vol. 17. No. 4. pp. 269-271.
GOST all authors (up to 50)
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Strømme P., Bjømstad P. G., Ramstad K. Prevalence Estimation of Williams Syndrome // Journal of Child Neurology. 2002. Vol. 17. No. 4. pp. 269-271.
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TY - JOUR
DO - 10.1177/088307380201700406
UR - https://doi.org/10.1177%2F088307380201700406
TI - Prevalence Estimation of Williams Syndrome
T2 - Journal of Child Neurology
AU - Strømme, Petter
AU - Bjømstad, Per G
AU - Ramstad, Kjersti
PY - 2002
DA - 2002/04/01 00:00:00
PB - SAGE
SP - 269-271
IS - 4
VL - 17
SN - 0883-0738
SN - 1708-8283
ER -
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@article{2002_Strømme,
author = {Petter Strømme and Per G Bjømstad and Kjersti Ramstad},
title = {Prevalence Estimation of Williams Syndrome},
journal = {Journal of Child Neurology},
year = {2002},
volume = {17},
publisher = {SAGE},
month = {apr},
url = {https://doi.org/10.1177%2F088307380201700406},
number = {4},
pages = {269--271},
doi = {10.1177/088307380201700406}
}
Cite this
MLA
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Strømme, Petter, et al. “Prevalence Estimation of Williams Syndrome.” Journal of Child Neurology, vol. 17, no. 4, Apr. 2002, pp. 269-271. https://doi.org/10.1177%2F088307380201700406.