title: The prevalence of fragile-X syndrome in an institution for people with learning disability.
abstract: The prevalence of Fragile-X syndrome in those with learning disability has been reported. There is little agreement regarding the prevalence rate which varies between 0% and 16%. We report a study investigating the prevalence of Fragile-X syndrome in two institutions for those with learning disability, using DNA testing. We found a rate of 0.7%, which is one of the lowest record rates. We also found that physical signs could be used as a reliable discriminator to determine those likely to have the disorder. We conclude that indiscriminate mass screening of those with learning disability for the Fragile-X syndrome is probably not useful because, in adults, physical signs and a family history of learning disability can predict those likely to have the disorder.
authors.affiliation: University Department of Psychiatry, Northern General Hospital, Sheffield, UK. J.ODwyer@sheffield.ac.uk
authors.forename: J
authors.initials: J
authors.lastname: O'Dwyer
authors.forename: J
authors.initials: J
authors.lastname: Holmes
authors.forename: R
authors.initials: R
authors.lastname: Mueller
authors.forename: G
authors.initials: G
authors.lastname: Taylor
mesh_terms: D000328:Adult; D001824:Body Constitution / Q000235:genetics; D004739:England; D005600:Fragile X Syndrome / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D007326:Institutionalization; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D015995:Prevalence; D012307:Risk Factors