Neuropsychological and Psychosocial Effects of the FMR-1 Full Mutation: Case Report of Monozygotic Twins Discordant for the Fragile X Syndrome

Michèle M.M. Mazzocco, Lisa S. Freund, Thomas L. Baumgardner, Lisa Forman, Allan L. Reiss

Research output: Contribution to journalArticle

Abstract

An extensive evaluation was conducted with 16-year-old monozygotic twins concordant for the fragile X full mutation but discordant for mental retardation. The clearly affected twin had an IQ score of 47; 77% of her neuropsychological z scores were at least 2 SDs below average. Her sister had an IQ score of 105 and average neuropsychological performance. However, each girl demonstrated relative verbal strengths and visual-spatial weaknesses. Their parents rated each girl as having significant problems with attention, conduct, anxiety-withdrawal, and hyperactivity. The girls did not rate themselves as having significant anxiety. These findings are consistent with group data on females with fragile X and demonstrate the wide range of effects associated with the fragile X full mutation. This case report implicates the importance of a psychosocial phenotype of fragile X independent of cognitive ability level.

Original languageEnglish (US)
Pages (from-to)470-480
Number of pages11
JournalNeuropsychology
Volume9
Issue number4
DOIs
StatePublished - Oct 1995

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology

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