title: 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.
abstract: 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 identifying affected individuals and fragile X families, thus contributing in prevention of the disease. In comparison with numerous fragile X screening studies where 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 often 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.
authors.affiliation: Division of Molecular Medicine, Ruder Bosković Institute, Children's Hospital Zagreb, Croatia. shecimov@rudjer.irb.hr
authors.forename: S
authors.initials: S
authors.lastname: Hećimović
authors.forename: I
authors.initials: I
authors.lastname: Barisić
authors.forename: K
authors.initials: K
authors.lastname: Pavelić
mesh_terms: D002648:Child; D003362:Cost-Benefit Analysis; D017523:Croatia; D004247:DNA; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing / Q000191:economics*; D006301:Health Services Needs and Demand; D006801:Humans; D008297:Male; D010375:Pedigree; D012307:Risk Factors
chemical_list: D004247:DNA