title: Applicability of a checklist for clinical screening of the fragile X syndrome.
abstract: In a population of 340,000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993. Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome. The other 344 males were screened for the fragile X syndrome using a three-step method: a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA-locus gene test. Six new fragile X males were found. The minimum prevalence of the fragile X syndrome in the district was calculated to be 1:4400.
authors.affiliation: Pääjärvi Centre, Lammi, Hospital for Children and Adolescents, Pediatric Neurology, University of Helsinki, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Arvio
authors.forename: M
authors.initials: M
authors.lastname: Peippo
authors.forename: K O
authors.initials: KO
authors.lastname: Simola
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000465:Algorithms; D005387:Finland / Q000453:epidemiology; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D015995:Prevalence; D016601:RNA-Binding Proteins
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human