Emotional and neurocognitive deficits in fragile X

W. E. Sobesky, B. F. Pennington, D. Porter, C. E. Hull, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

65 Scopus citations


We have studied the neurocognitive deficit in premutation and full mutation women as compared to control women and to explore the relationship between those deficits and the incidence of emotional problems. Four groups of women were examined: two fragile X (fra(X)) negative control groups, one of which grew up in fra(X) families and one not; and two DNA positive groups, one with a premutation (CGG repeats <200) and one with an expanded mutation (CGG repeats >200). All women were assessed using the MMPI-2, the SADS-L, and a battery of neuropsychological tests. Full mutation women had lower scores on composite measures of executive function and nonverbal function. There was no difference between the groups in terms of the lifetime incidence of depressive and anxiety disorders on the SADS-L. Full mutation women displayed Lie scales higher than the other groups on the MMPI-2. Neurocognitive measures were not related to SADS-L diagnoses but were related to the Lie scale on the MMPI-2. Finally, number of CGG repeats was related to the neuropsychological variables and the Lie scale.

Original languageEnglish (US)
Pages (from-to)378-385
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1994
Externally publishedYes


  • emotional problems
  • FMR-1
  • fra(X) females
  • neuropsychological functioning

ASJC Scopus subject areas

  • Genetics(clinical)


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