Profile of cognitive functioning in women with the fragile X mutation

Two studies tested the specificity of the neurocognitive profile of women w ith fragile X syndrome (FXS). First, women with an FXS full mutation were c ompared with women with a premutation and women without FXS who grew up in FXS families. Women with FXS had a significantly lower IQ than the other gr oups, and analyses of subtest profiles showed they had a relative weakness on Arithmetic and strength on Picture Completion. Women with FXS performed worse than the other groups on executive function, spatial ability, and vis ual memory. Next, women with FXS were compared with women without FXS match ed on age and IQ. A similar IQ profile was found, but women with FXS were w orse than controls only on executive function. The authors also examined wh ich neurocognitive indices were related to the underlying biology of the di sorder. Overall, the results indicated that executive rather than visuospat ial deficits were primary in the neurocognitive profile of FXS.