Abstract
Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females. To date, the vast majority of research on FXS has predominantly targeted males, who usually exhibit greater cognitive impairment compared to females. Due to their typically milder phenotype, females may have more potential to attain a higher level of independence and quality of life than their male counterparts. However, the constellation of cognitive, behavioral, and, particularly, socio-emotional challenges present in many females with FXS often preclude them from achieving their full potential. It is, therefore, critical that more research specifically focuses on females with FXS to elucidate the role of genetic, environmental, and socio-emotional factors on outcome in this often-overlooked population.
Highlights
Introduction to Fragile X SyndromeFragile X syndrome (FXS) is a genetic condition that is commonly cited as the leading heritable cause of autism and intellectual disability
All participants were diagnosed by an appropriate molecular genetic test as having more than 200 CGG repeats in the fragile X mental retardation 1 (FMR1) gene with documentation of previous testing provided by caregivers at enrollment
Preliminary cohort, girls with FXS performed significantly better on the verbal domain (Mean = 82.25, SD = 11.56) than on the nonverbal domain (Mean = 73.65, SD = 16.79); t(19) = 2.46, p = 0.012 or the overall composite (Mean = 74.90, SD = 14.77); t(19) = 3.10, p = 0.003 of the DAS-II (Figure 2A). Girls in this cohort performed significantly better on the reading domain (Mean = 84.85, SD = 13.74) than
Summary
Fragile X syndrome (FXS) is a genetic condition that is commonly cited as the leading heritable cause of autism and intellectual disability. Males with FXS tend to exhibit more cognitive and behavioral problems relative to females with FXS and, tend to come to the attention of medical and mental health providers more frequently than females. The phenotype in females with FXS is generally less severe and more frequently associated with learning disabilities, socio-emotional difficulties, and mental health issues [5]. This difference in symptom presentation and severity has led, historically, to females receiving a diagnosis only after a close male relative is diagnosed, leaving many girls and women with this condition unidentified
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