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.
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Specific areas of cognitive weaknesses in FXS include communication, mathematics, visual-spatial processing, executive function, and memory.
“Specific areas of cognitive weaknesses include communication, mathematics, visual-spatial processing, executive function, and memory [709-711].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [709]
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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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