DNA analysis of the fragile X syndrome in an at risk pediatric population in Croatia: simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies (CROSBI ID 82287)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Hećimović, Silva ; Barišić, Ingeborg ; Pavelić, Krešimir
engleski
DNA analysis of the fragile X syndrome in an at risk pediatric population in Croatia: simple clinical preselection criteria can considerably improve the cost-effectiveness of fragile X screening studies
Advances in understanding the molecular basis of the fragile X syndrome, the most common cause of inherited mental retardation, have elicited new prospects for population-based studies indentifying affected individuals and fragile Xa families, thus contributing in prevention of the disease. In comparison with numerous fragile X screening studies were unselected groups of individuals with mental retardation, developmental delay, learning disability or autistic-like behaviour had been observed, we performed fragile X analysis on clinically preselected individuals. The group we studied consisted of 108 children with mental retardation of unknown cause or positive family history who had at least one physical and/or behavioural characteristic ofter observed among fragile X individuals. A relative high frequency of the fragile X positive cases (13% overall, 17.3% in males) was detected, suggesting that simple preselection criteria can considerably increase the proportion of fragile X-positive cases, and therefore, improve the cost-effectiveness of fragile X testing. Retrospective clinical analysis using a simplified six-item fragile X checklist confirmed that scoring criteria can be used to additionally preselect individuals at risk. Our results also indicate that this syndrome is underdiagnosed in Croatia and that a further effort must be made to detect unrecognised cases.
CGG repeat expansion; FMR-1 gene; fragile X syndrome; mental retardation; molecular analysis
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