Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females

摘要: Abstract The present French–German investigation of fragile-X syndrome (fra-X) was undertaken to disentangle genetic from environmental effects on cognitive performance as assessed with the following measures: Wechsler Adult Intelligence Scale-Revised (WAIS-R), Wisconsin Card Sorting Test, Trail-Making Tower Hanai, Verbal Fluency Stroop short-term and consolidation memory, d2 task. Groups different genotypes ( n =11 mothers a full mutation in FMR-1 gene fra-X children; =65 premutation =18 siblings these normal CGG repeats) psychosocial stressors families =14 but without affected children their own) were examined. A group non-fra-X autistic =39) formed an external control group. Previous findings replicated concerning full-mutation carrier mothers, who characterized by lower overall IQ poorer than verbal subtests WAIS-R, tests executive-frontal lobe functioning, sustained attention. Carriers premutation, whether they or not, performed similar way all neuropsychological tasks intrafamilial amplification. On basis results, it is concluded that there no evidence reduced carriers compared two groups repeats. Furthermore, burden raising does not exert effect test performance.