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Short-term memory and cognitive variability in adult fragile X females.

We investigated the possibility that adult fragile X [fra(X)] heterozygotes have a distinct or specific cognitive profile, with a particular focus on visuospatial and/or memory deficits. With a sample of 13 adult fra(X) female carriers (2 fra(X) positive) and age-matched control women, we performed 2 tests: Wechsler Adult Intelligence Scale-Revised (WAIS-R) and the Revised Visual Retention Test (RVRT). An identifiable cognitive profile was not evident in the study group, but significant differences were evident in RVRT performance in number correct and number of errors when compared to controls and normative data. The combination of the WAIS-R and RVRT data suggests that the short-term memory component of the tasks may be of more significance than visuospatial performance in the deficits observed.