Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.
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.
Christofolini
Denise M
DM
Universidade Federal de São Paulo, São Paulo, Brazil.
Abbud
Eduardo M
EM
Lipay
Monica V N
MV
Costa
Silvia S
SS
Vianna-Morgante
Angela M
AM
Bellucco
Fernanda T S
FT
Nogueira
Sintia I
SI
Kulikowski
Leslie D
LD
Brunoni
Décio
D
Juliano
Yára
Y
Ramos
Marco A P
MA
Melaragno
Maria Isabel
MI
D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003906:Developing Countries; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000453:epidemiology; D008297:Male; D008403:Mass Screening; D055815:Young Adult