logo BDSP

Base documentaire


Fermeture du portail BDSP le 1er juillet 2019. En savoir plus...

  1. Screening and diagnosis for the fragile X syndrome among the mentally retarded : An epidemiological and psychological survey.

    Article - En anglais

    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

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 97-0527298

    Code Inist : 002B23C. Création : 13/02/1998.



Fermeture du portail BDSP le 1er juillet 2019

Nous avons le regret de vous informer de la fermeture du portail BDSP le 1er juillet 2019. Du 1er janvier au 30 juin 2019, le site et ses services resteront accessibles mais ne seront plus alimentés, ni mis à jour. En savoir plus...