Cited by 135Genetics and Neurodevelopmental DisordersWilliams Syndrome ResearchAutism Spectrum Disorder Research

Profile of cognitive functioning in women with the fragile X mutation.

Bennetto, Loisa, Taylor, Annette K., Pennington, Bruce F., Porter, Deborah, Hagerman, Randi J.·2001·Neuropsychology

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.

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Crossref · 10.1037/0894-4105.15.2.290

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Authors
Bennetto, L., Taylor, A. K., Pennington, B. F., Porter, D., & Hagerman, R. J.
Affiliations
University of Rochester (US)
Venue
Neuropsychology
Published
2001
Volume
15
Issue
2
Pages
290-299
ISSN
  • 0894-4105 (ISSN-L)
  • 1931-1559
OpenAlex
W2166415055
Cited by
135
References
39
Citations by year
2026: 2 · 2025: 2 · 2024: 4 · 2023: 1 · 2022: 2 · 2021: 6 · 2020: 3 · 2019: 8 · 2018: 2 · 2017: 3 · 2016: 6 · 2015: 4 · 2014: 7 · 2013: 8 · 2012: 12
FWCI
3.28
Type
journal article
Language
en
Open access
closed
Locations
  • Neuropsychology (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (1r03mh055366-01, 5r01mh045916-05)
  • National Center for Research Resources (M01RR000069)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
fragile X syndrome, fragile X premutation, women, cognitive function, executive function, visuospatial deficits, visual memory, spatial ability, IQ, arithmetic skills, picture completion, neuropsychological profile
MeSH terms
Adolescent, Adult, Brain, Chromosome Deletion, Cognition Disorders, Female, Fragile X Syndrome, Humans, Middle Aged, Perceptual Disorders, Space Perception, Visual Perception, Wechsler Scales, Point Mutation

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