Eficacia de un test clínico como preselección de niños con sospecha de síndrome X frágil

  1. I. Fernández Carvajal
  2. A. Blanco Quirós
  3. Joaquín Fernández Toral
  4. Juan José Tellería Orriols
  5. Margarita Alonso-Ramos
  6. A. Sanz Cantalapiedra
  7. J.F. Martín Rodríguez
  8. R. Palencia Luances
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Year of publication: 2001

Volume: 54

Issue: 4

Pages: 326-330

Type: Article

DOI: 10.1016/S1695-4033(01)77538-8 DIALNET GOOGLE SCHOLAR lock_openOpen access editor


Background Fragile X syndrome (FXS) is the most frequent hereditary cause of mental retardation. It can be diagnosed by molecular genetic techniques, but clinical suspicion is made less likely by it variable expression Objective To assess the effectiveness of a six-item checklist in the preselection of children who are candidates for FXS genetic study Material and methods W e studied 70 male patients aged between 2 and 10 years with mental retardation of unknown cause. In all patients a checklist with six clinical criteria (mental retardation, history of familial mental retardation, long face, large ears, autistic-like behaviour, and attention deficit disorder with hyperactivity) measured from 0-2 points was applied and molecular genetic studies using polymerase chain reaction and Southern-blot were performed Results In 14 of the 70 children (20 %) molecular study confirmed full mutation (> 200 CGG repeats). A score of six points in the test had the greatest discriminatory power and was reached by 14 patients (100 %) with mutation, but only by 2 of 56 patients (3.5 %) without mutation. The most accurate diagnostic model was the association of mental retardation, attention deficit disorder with hyperactivity, large ears and a history of familial mental retardation followed by long face and autistic-like behaviour Conclusion The six-item checklist improved the preselection of children with suspicion of FXS, which was later confirmed by molecular genetic techniques