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
StatePublished - Oct 1995

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Fragile X Syndrome
Monozygotic Twins
Mutation
Anxiety
Aptitude
Intellectual Disability
Siblings
Parents
Phenotype

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Biological Psychiatry

Cite this

Mazzocco, M. M. M., Freund, L. S., Baumgardner, T. L., Forman, L., & Reiss, A. L. (1995). Neuropsychological and Psychosocial Effects of the FMR-1 Full Mutation: Case Report of Monozygotic Twins Discordant for the Fragile X Syndrome. Neuropsychology, 9(4), 470-480.

Neuropsychological and Psychosocial Effects of the FMR-1 Full Mutation : Case Report of Monozygotic Twins Discordant for the Fragile X Syndrome. / Mazzocco, Michèle M M; Freund, Lisa S.; Baumgardner, Thomas L.; Forman, Lisa; Reiss, Allan L.

In: Neuropsychology, Vol. 9, No. 4, 10.1995, p. 470-480.

Research output: Contribution to journalArticle

Mazzocco, MMM, Freund, LS, Baumgardner, TL, Forman, L & Reiss, AL 1995, 'Neuropsychological and Psychosocial Effects of the FMR-1 Full Mutation: Case Report of Monozygotic Twins Discordant for the Fragile X Syndrome', Neuropsychology, vol. 9, no. 4, pp. 470-480.
Mazzocco, Michèle M M ; Freund, Lisa S. ; Baumgardner, Thomas L. ; Forman, Lisa ; Reiss, Allan L. / Neuropsychological and Psychosocial Effects of the FMR-1 Full Mutation : Case Report of Monozygotic Twins Discordant for the Fragile X Syndrome. In: Neuropsychology. 1995 ; Vol. 9, No. 4. pp. 470-480.
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