Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome.

摘要: Objective To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS), an emphasis on time lag between initial presentation and diagnosis female vs male children. Study design Interviews were conducted 89 families of a final FXS assessment intervals confirmed molecular diagnosis. Results Screening 117 patients (25 patients) from revealed that less than 20% obtained within first year seeking medical attention. Mean age at was 12.3 months 23 patients, while definitive made mean 4 9 years, respectively. Presenting symptoms developmental delays recognized by 72% parents, 84% had another child before index case Average for born since 2007 significantly lower 31.9 months, compared 69.5 2007. Conclusions Although is significant prevalent cause disability children, it underdiagnosed late, especially patients. In every patient presenting delay or autism, should be considered. Dysmorphic physical features may not present infancy, absence those cannot exclude FXS.