Mazzocco M M, Pennington B F, Hagerman R J
Child Development Unit, Children's Hospital, Denver, CO 80218.
J Dev Behav Pediatr. 1993 Oct;14(5):328-35.
The specificity of the neurocognitive profile among women with the fragile X gene, in relation to cytogenetic expression, was examined among 22 women with > or = 2% expression, 35 0% obligate carriers, and 60 controls. Measures were obtained for intellectual ability; achievement; and verbal, nonverbal, memory, and executive functions. Findings show that no group consistently demonstrated global deficits in the verbal, nonverbal or memory domains. In contrast, even when controlling for the effects of IQ, the expressing women exhibited (1) deficits on measures of executive function, (2) deficits in measures of attention and visual-spatial skills, and (3) enhanced performance on verbal, but not figural, memory. No deficits were seen among obligate carriers. This study supports the notion that executive function deficits and/or visual-spatial skills may account for the behavioral and cognitive manifestations of fragile X.
在22名表达率≥2%的女性、35名0%的遗传携带者及60名对照者中，研究了具有脆性X基因的女性的神经认知特征与细胞遗传学表达之间的特异性关系。对智力、成就以及言语、非言语、记忆和执行功能进行了测量。结果表明，没有一组在言语、非言语或记忆领域持续表现出整体缺陷。相比之下，即使控制了智商的影响，表达型女性仍表现出：（1）执行功能测量方面的缺陷；（2）注意力和视觉空间技能测量方面的缺陷；（3）言语记忆（而非图形记忆）表现增强。遗传携带者中未发现缺陷。本研究支持这样一种观点，即执行功能缺陷和/或视觉空间技能可能是脆性X行为和认知表现的原因。
