A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks
Article first published online: 30 AUG 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 116A, Issue 1, pages 44–51, 1 January 2003
How to Cite
Steyaert, J., Legius, E., Borghgraef, M. and Fryns, J.-P. (2003), A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks. Am. J. Med. Genet., 116A: 44–51. doi: 10.1002/ajmg.a.10821
- Issue published online: 3 DEC 2002
- Article first published online: 30 AUG 2002
- Manuscript Accepted: 7 JUN 2002
- Manuscript Received: 29 OCT 2001
- mental retardation;
Premature ovarian failure (POF) and underlying hormonal changes are recognized as a distinct phenotype in female fragile-X premutation carriers. Neurocognitive deficits, in particular mental retardation, are associated with the full mutation in males and females. In female full mutation carriers this neurocognitive phenotype is expressed more mildly than in males. Research on whether the fragile-X premutation is associated with a particular neurocognitive phenotype or not has been equivocal. By means of the Sonneville Visual Attentions Tasks (SVAT) computer-based battery of neurocognitive tasks, we assessed reaction time on different tasks in three groups of subjects: female premutation carriers, female full mutation carriers, and female control subjects. The results show that a fraction of the female premutation carriers perform poorly on several selective attention tasks, but not on other tasks. Their neurocognitive profile is different from that of control subjects and of the majority of female premutation carriers. It may also be different from the phenotype of female full mutation carriers, though in that respect this study remains inconclusive. These findings support earlier findings that the fragile-X premutation may affect neurocognitive functioning, in particular aspects of attention. © 2002 Wiley-Liss, Inc.