The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity

Michele M.M. Mazzocco, Bruce F. Pennington, Randi J. Hagerman

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155 Scopus citations


The specificity of the neurocognitive profile among women with the fragile X gene, in relation to cytogenetic expression, was examined among 22 women with ≥2% expression, 35 0% obligate carriers, and 60 controls. Measures were obtained for intellectual ability; achievement; and verbal, nonverbal, memory, and executive functions. Findings show that no group consistently demonstrated global deficits in the verbal, nonverbal or memory domains. In contrast, even when controlling for the effects of IQ, the expressing women exhibited (1) deficits on measures of executive function, (2) deficits in measures of attention and visual-spatial skills, and (3) enhanced performance on verbal, but not figural, memory. No deficits were seen among obligate carriers. This study supports the notion that executive function deficits and/or visual-spatial skills may account for the behavioral and cognitive manifestations of fragile X.

Original languageEnglish (US)
Pages (from-to)328-335
Number of pages8
JournalJournal of Developmental and Behavioral Pediatrics
Issue number5
StatePublished - Oct 1993


  • cognitive
  • executive function
  • fragile X
  • frontal lobe
  • neuropsychological

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology
  • Psychiatry and Mental health


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