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Pregled bibliografske jedinice broj: 21515

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


Hećimović, Silva; Barišić, Ingeborg; Pavelić, Krešimir
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 // Human Heredity, 48 (1998), 5; 256-265 (međunarodna recenzija, članak, znanstveni)


Naslov
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
(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)

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

Izvornik
Human Heredity (0001-5652) 48 (1998), 5; 256-265

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CGG repeat expansion; FMR-1 gene; Fragile X syndrome; Mental retardation; Molecular analysis
(CGG repeat expansion; FMR-1 gene; fragile X syndrome; mental retardation; molecular analysis)

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA


Projekt / tema
00981104

Ustanove
Institut "Ruđer Bošković", Zagreb

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE