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Cited by 85Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability researchWilliams Syndrome Research

Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism

Schapiro, Mark B., Murphy, Declan G. M., Hagerman, Randi J., Azari, Nina P., Alexander, Gene E., Miezejeski, C. M., Hinton, Veronica J., Horwitz, Barry +4 more·1995·American Journal of Medical Genetics
DOI 10.1002/ajmg.1320600603
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Abstract

To understand the implications of suboptimal gene expression in fragile X syndrome -fra(X)-, we sought to define the central nervous abnormalities in fra(X) syndrome to determine if abnormalities in specific brain regions or networks might explain the cognitive and behavioral abnormalities in this syndrome. Cranial and ventricular volumes were measured with quantitative computed tomography (CT), regional cerebral metabolic rates for glucose (rCMRglc) were measured with [18-F]-2-fluoro-2-deoxy-D-glucose (18FDG), and patterns of cognition were determined with neuropsychological testing in ten healthy, male patients with karyotypically proven fra(X) syndrome (age range 20-30 yr). Controls for the CT studies were 20 healthy males (age range 21-37 yr), controls for the PET studies were 9 healthy males (age range 22-31 yr), and controls for the neuropsychological tests were 10 young adult, male Down syndrome (DS) subjects (age range 22-31 yr). The mean mental age of the fra(X) syndrome group was 5.3 yr (range 3.5-7.5 yr; Stanford-Binet Intelligence Scale). Despite comparable levels of mental retardation, the fra(X) subjects showed poorer attention/short term memory in comparison to the DS group. Further, the fra(X) subjects showed a relative strength in verbal compared to visuospatial attention/short term memory. As measured with quantitative CT, 8 fra(X) subjects had a significant (P < 0.05) 12% greater intracranial volume (1,410 +/- 86 cm3) as compared to controls (1,254 +/- 122…

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  • Physical features of Fragile X syndrome can include a long narrow face with large protruding ears, connective tissue abnormalities, macroorchidism, macrocephaly, obesity, loose skin over the hands, a high arched palate, a vertical plantar crease and flat feet.

    “The physical features can include: a long narrow face with large protruding ears, connective tissue abnormalities (i.e. hyperextensive joints), macroorchidism, macrocephaly, obesity (especially in young males), loose skin over the hands, a high arched palate, a vertical plantar crease and flat feet (Moy et al., 2009; Schapiro et al., 1995).”

    From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Schapiro et al., 1995

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Authors
Schapiro, M. B., Murphy, D. G. M., Hagerman, R. J., Azari, N. P., Alexander, G. E., Miezejeski, C. M., Hinton, V. J., Horwitz, B., Haxby, J. V., Kumar, A., White, B., & Grady, C. L.
Affiliations
National Institutes of Health (US)
Corresponding author
Schapiro, Mark B.
ORCID
Venue
American Journal of Medical Genetics
Publisher
Wiley
Published
1995-12-18
Volume
60
Issue
6
Pages
480-493
ISSN
  • 0148-7299 (ISSN-L)
  • 1096-8628
DOI
10.1002/ajmg.1320600603
OpenAlex
W2125742634
Cited by
85
References
83
Citations by year
2025: 1 · 2024: 1 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 4 · 2013: 7 · 2012: 2
FWCI
1.85
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 3459 d)
Locations
  • American Journal of Medical Genetics (publishedVersion, public-domain)
  • PubMed (publishedVersion)
  • Iris (University of Trento) (submittedVersion)
  • Research Portal (King's College London) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
  • Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords
fragile X syndrome, adult male, intracranial volume, regional cerebral glucose metabolism, superior parietal lobule, hemispheric lateralization, neuroanatomy, neuropsychological assessment, intellectual disability, gene expression reduction, FMR1 gene
MeSH terms
Adult, Brain, Fragile X Syndrome, Humans, Male, Neuropsychological Tests, Tomography, Emission-Computed, Tomography, X-Ray Computed

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