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Cited by 112Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchDown syndrome and intellectual disability research

Spatial cognition in males with Fragile-X syndrome: evidence for a neuropsychological phenotype

CORNISH, K, MUNIR, F, CROSS, G·1999·Cortex
DOI 10.1016/s0010-9452(08)70799-8
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Abstract

Spatial performance in a group of young Fragile-X syndrome males with FMR-1 full mutation was compared to a learning disabled control group comprising young Down's syndrome males and two control groups of mainstream schoolchildren. Performance was assessed across a wide range of spatial tasks including visuo-construction, visuo-spatial memory, visuo-motor, and visuo-perception. The findings indicate a task-specific rather than global deficit in spatial performance in Fragile-X males with visuo-constructive and visuo-motor skills most vulnerable. Molecular analysis of the lymphocyte DNA found minimal evidence for a correlation between CGG expansion size and spatial performance, although tasks with a visuo-perceptual component correlated negatively with expansion size indicating that the further away the number of repeats are from the 200 threshold the poorer the performance.

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  • Individuals with Fragile X syndrome exhibit deficits in visuospatial tasks, quantitative skills, short-term and working memory, expressive language skills, sequential processing and executive function.

    “FXS individuals exhibit deficits in visuospatial tasks, quantitative skills, short-term and working memory, expressive language skills, sequential processing and executive function (Berry-Kravis et al., 2002; Cornish et al., 1999; Freund and Reiss, 1991; Hall et al., 2012; Kwon et al., 2001; Maes et al., 1994).”

    From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Cornish et al., 1999

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Authors
CORNISH, K., MUNIR, F., & CROSS, G.
Affiliations
  • University of Nottingham (GB)
  • Nottingham City Hospital (GB)
Corresponding author
CORNISH, K
ORCID
Venue
Cortex
Publisher
Elsevier BV
Published
1999
Volume
35
Issue
2
Pages
263-271
ISSN
0010-9452 (ISSN-L)
DOI
10.1016/s0010-9452(08)70799-8
OpenAlex
W2021993883
Cited by
112
References
29
Citations by year
2026: 2 · 2025: 2 · 2023: 2 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 6 · 2018: 3 · 2017: 3 · 2016: 7 · 2015: 4 · 2014: 7 · 2013: 6 · 2012: 6
FWCI
1.76
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Cortex (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
Keywords
fragile X syndrome, FMR1 full mutation, spatial cognition, visuospatial memory, CGG repeat expansion, FMRP, Down syndrome, neuropsychological phenotype
MeSH terms
Adolescent, Child, Cognition, DNA, Down Syndrome, Fragile X Syndrome, Genotype, Humans, Intelligence, Male, Memory, Neuropsychological Tests, Phenotype, Space Perception

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