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Prevalence estimation of Williams syndrome
Petter Strømme1, Per G Bjørnstad, Kjersti Ramstad
1Department of Paediatrics, Rikshospitalet, The National Hospital, Oslo, Norway. petter_stromme@hotmail.com
Journal of Child Neurology
|June 29, 2002
Summary
Williams syndrome affects approximately 1 in 7500 individuals, based on Norwegian population data. This genetic disorder, characterized by a chromosome 7q11.23 deletion, is a significant cause of intellectual disability.
Area of Science:
- Genetics
- Epidemiology
- Pediatrics
Background:
- Limited population-based data exist on the prevalence of Williams syndrome.
- Williams syndrome is a genetic disorder associated with intellectual disability.
Purpose of the Study:
- To estimate the prevalence of Williams syndrome in Norway.
- To determine the frequency of Williams syndrome as a cause of mental retardation.
Main Methods:
- Combined data from an epidemiologic study of mental retardation and a national survey of Williams syndrome.
- Analyzed records of 30,037 children in Akershus County and 57 identified cases nationwide.
- Confirmed diagnosis through detection of the typical chromosome 7q11.23 deletion.
Main Results:
- Identified a prevalence of Williams syndrome of approximately 1 in 7500 births.
- Found that Williams syndrome accounts for about 6% of intellectual disability cases with a genetic etiology.
- Confirmed the characteristic 7q11.23 deletion in all identified cases.
Conclusions:
- Williams syndrome has a higher prevalence than previously estimated from population studies.
- Williams syndrome is a notable cause of genetically linked intellectual disability.
- Further research into the prevalence and impact of Williams syndrome is warranted.