title: Profile of cognitive functioning in women with the fragile X mutation.
abstract: Two studies tested the specificity of the neurocognitive profile of women with fragile X syndrome (FXS). First, women with an FXS full mutation were compared with women with a premutation and women without FXS who grew up in FXS families. Women with FXS had a significantly lower IQ than the other groups, and analyses of subtest profiles showed they had a relative weakness on Arithmetic and strength on Picture Completion. Women with FXS performed worse than the other groups on executive function, spatial ability, and visual memory. Next, women with FXS were compared with women without FXS matched on age and IQ. A similar IQ profile was found, but women with FXS were worse than controls only on executive function. The authors also examined which neurocognitive indices were related to the underlying biology of the disorder. Overall, the results indicated that executive rather than visuospatial deficits were primary in the neurocognitive profile of FXS.
authors.affiliation: Department of Clinical and Social Sciences in Psychology, University of Rochester, New York 14627, USA. bennetto@psych.rochester.edu
authors.forename: L
authors.initials: L
authors.lastname: Bennetto
authors.forename: B F
authors.initials: BF
authors.lastname: Pennington
authors.forename: D
authors.initials: D
authors.lastname: Porter
authors.forename: A K
authors.initials: AK
authors.lastname: Taylor
authors.forename: R J
authors.initials: RJ
authors.lastname: Hagerman
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000503:physiopathology; D002872:Chromosome Deletion; D003072:Cognition Disorders / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008875:Middle Aged; D010468:Perceptual Disorders / Q000175:diagnosis / Q000503:physiopathology; D017354:Point Mutation / Q000235:genetics*; D013028:Space Perception / Q000502:physiology; D014796:Visual Perception / Q000502:physiology; D014888:Wechsler Scales