title: The neurocognitive phenotype of female carriers of fragile X: additional evidence for specificity.
abstract: The specificity of the neurocognitive profile among women with the fragile X gene, in relation to cytogenetic expression, was examined among 22 women with > or = 2% expression, 35 0% obligate carriers, and 60 controls. Measures were obtained for intellectual ability; achievement; and verbal, nonverbal, memory, and executive functions. Findings show that no group consistently demonstrated global deficits in the verbal, nonverbal or memory domains. In contrast, even when controlling for the effects of IQ, the expressing women exhibited (1) deficits on measures of executive function, (2) deficits in measures of attention and visual-spatial skills, and (3) enhanced performance on verbal, but not figural, memory. No deficits were seen among obligate carriers. This study supports the notion that executive function deficits and/or visual-spatial skills may account for the behavioral and cognitive manifestations of fragile X.
authors.affiliation: Child Development Unit, Children's Hospital, Denver, CO 80218.
authors.forename: M M
authors.initials: MM
authors.lastname: Mazzocco
authors.forename: B F
authors.initials: BF
authors.lastname: Pennington
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D003072:Cognition Disorders / Q000175:diagnosis / Q000235:genetics*; D003582:Cytogenetics; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D007361:Intelligence Tests; D008875:Middle Aged; D010641:Phenotype; D013028:Space Perception; D014796:Visual Perception; D014888:Wechsler Scales