The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene.
Its frequency, X-linked inheritance, and consequences for relatives all prompt for diagnosis of this disorder on a large scale in all affected individuals.
A screening for the fragile X syndrome has been conducted in a representative sample of 3,352 individuals in schools and institutes for the mentally retarded in the southwestern Netherlands, by use of a brief physical examination and the DNA test.
The attitudes and reactions of (non) consenting parents/guardians were studied by (pre-and posttest) questionnaires.
A total of 2,189 individuals (65%) were eligible for testing, since they had no valid diagnosis, cerebral palsy, or a previous test for the FMR1 gene mutation.
Seventy percent (1,531/2,189) of the parents/guardians consented to testing.
Besides 32 previously diagnosed fragile X patients, 11 new patients (9 males and 2 females) were diagnosed.
Scoring of physical features was effective in preselection, especially for males (sensitivity. 91 and specificity. 92).
Major motives to participate in the screening were the wish to obtain a diagnosis (82%), the hereditary implications (80%), and the support of research into mental retardation (81%). Thirty-four percent of the parents/guardians will seek additional diagnostic workup after exclusion of the fragile X syndrome. (...)
Mots-clés Pascal : X fragile syndrome, Homme, Dépistage, Diagnostic, Maladie héréditaire, Caractère lié au sexe, Arriération mentale, Programme sanitaire, Prévalence, Acceptation, Etude familiale, Attitude, Epidémiologie, Fragilité chromosomique, Déficience intellectuelle
Mots-clés Pascal anglais : Fragile X syndrome, Human, Medical screening, Diagnosis, Genetic disease, Sex linked character, Mental retardation, Sanitary program, Prevalence, Acceptance, Family study, Attitude, Epidemiology, Chromosome fragility, Intellectual deficiency
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0527298
Code Inist : 002B23C. Création : 13/02/1998.