APPLICABILITY OF A CHECKLIST FOR CLINICAL SCREENING OF THE FRAGILE-X-SYNDROME

In a population of 340 000 in Southern Hame, Finland, there were 541 i ntellectually disabled adult males (>16 years) known to the District O rganisation for the Care of the Mentally Retarded in August 1993. Of t hese, 197 already had a confirmed etiological diagnosis, with 20 havin g the fragile X syndrome. The other 344 males were screened for the fr agile X syndrome using a three-step method: a clinical checklist used by a specialist nurse, a clinical examination by a physician who was v ery familiar with the fragile X syndrome, and the FRAXA-locus gene tes t. Six new fragile X males were found. The minimum prevalence of the f ragile X syndrome in the district was calculated to be 1:4400.