Naslov
DNA analysis of the fragile X syndrome in at risk pediatric population in Croatia

Autori
Hećimović, Silva ; Barišić, Ingeborg ; Pavelić, Krešimir

Izvornik
Paediatria Croatica (1330-1403) 42 (1998), Suppl 3;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
DNA analysis; Fragile X syndrome; Croatia

Sažetak
Advances in understanding the molecular basis of the fragile X syndrome, the most common cause of inherited mental retardation, have elicited new prospects of population-based studies identifying affected individuals and fragile X families, thus contributing in prevention of the disease. In comparison with numeorus fragile X screening studies where unselected group 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 behavioral characteristic associated with the fragile X phenotype. 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 analyses using 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 further effort must be made to detect unrecognized cases.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA