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Journal of Intellectual Disabilities
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Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males

Proposal for a new screening tool

Denise M. Christofolini

Universidade Federal de São Paulo, Brazil

Eduardo M. Abbud

Universidade Federal de São Paulo, Brazil

Monica V.N. Lipay

Universidade Federal de São Paulo, Brazil

Silvia S. Costa

Universidade de São Paulo, Brazil

Angela M. Vianna-Morgante

Universidade de São Paulo, Brazil

Fernanda T.S. Bellucco

Universidade Federal de São Paulo, Brazil

Sintia I. Nogueira

Universidade Federal de São Paulo, Brazil

Leslie D. Kulikowski

Universidade Federal de São Paulo, Brazil

Décio Brunoni

Universidade Federal de São Paulo, Brazil

Yára Juliano

Universidade de Santo Amaro, São Paulo, Brazil

Marco A.P. Ramos

Universidade Federal de São Paulo, Brazil

Maria Isabel Melaragno

Universidade Federal de São Paulo, Brazil

Patients with fragile X syndrome present a variable phenotype, which contributes to the underdiagnosing of this condition. The use of clinical checklists in individuals with intellectual disability can help in selecting patients to be given priority in the molecular investigation of the fragile X mutation in the FMR1 gene. Some features included in checklists are better predictors than others, but they can vary among different populations and with patient age. In the present study, we evaluated 20 features listed in four clinical checklists from the literature, using a sample of 192 Brazilian male patients presenting with intellectual disability (30 positive and 162 negative for fragile X mutation). After statistical analysis, 12 out of the 20 items analyzed showed significant differences in their distributions between the two groups. These features were grouped in a new checklist that can help clinicians in their referral for fragile X testing in patients with developmental delay.

Key Words: fragile X checklist • fragile X syndrome • FMR1 gene • X-linked intellectual disability

Journal of Intellectual Disabilities, Vol. 13, No. 3, 239-248 (2009)
DOI: 10.1177/1744629509348429
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