Molecular-neurobehavioral associations in females with the XXXX full mutation.

@entity1984 @entity73 @entity2100
In this study, young females with the @entity2100 [fra(X)] full mutation (fM) were assessed using quantitative measures of mutation amplification size (Amp) as well as the ratio of active normal X chromosome to total normal X chromosome (activation ratio- @entity1984 ). Neurobehavioral assessments of females with the fM were performed and included specific and general measures of cognitive and behavioral/developmental functioning. To investigate molecular-behavioral associations, Amp and @entity1984 were used as independent variables, while cognitive and behavioral scores were used as dependent variables. Significant correlations were observed between both molecular variables (Amp and @entity1984 ) and measures of cognitive functioning, with @entity1984 showing the most consistent and robust correlations. As @entity1984 increased, overall IQ and specific subtest and area scores from the cognitive tests increased. Conversely, as Amp increased, the overall IQ and specific subtest and area cognitive scores decreased. No significant associations were observed between @entity1984 or Amp and measures of behavior or development. The molecular-cognitive associations were generally consistent with the cognitive profile previously described in studies comparing females with fra(X) to age-matched controls. Amp and @entity1984 were not associated with one another, nor were they associated with the same cluster of cognitive measures. Though this report does not conclusively show that @entity1984 and Amp can be used to clinically assess the risk of a female with the fM for @entity73 , the evidence presented does suggest that these molecular variables, especially @entity1984 , reflect important underlying genetic factors contributing to the fra(X) phenotype.
