[Effectiveness of a clinical test in the preselection of children with suspected fragile X syndrome]. / Eficacia de un test clínico como preselección de niños con sospecha de síndrome X frágil.
An Esp Pediatr
; 54(4): 326-30, 2001 Apr.
Article
em Es
| MEDLINE
| ID: mdl-11273815
ABSTRACT
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 ANDMETHODS:
We 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 2of 56patients (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.CONCLUSIONS:
The six-item checklist improved the preselection of children with suspicion of FXS, which was later confirmed by molecular genetic techniques.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Seleção de Pacientes
/
Síndrome do Cromossomo X Frágil
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
Es
Revista:
An Esp Pediatr
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Espanha