Mazzocco M M, Hagerman R J, Cronister-Silverman A, Pennington B F
University of Colorado Health Sciences Center, Denver.
J Am Acad Child Adolesc Psychiatry. 1992 Nov;31(6):1141-8. doi: 10.1097/00004583-199211000-00025.
The neurocognitive phenotype of fragile X and its relation to cytogenetic expression were examined among 10 fragile X women with > or = 2% expression, 10 0% obligate carriers, and 10 controls. Measures were obtained for intellectual ability, achievement, and verbal, nonverbal, memory, and frontal lobe functions. Results show that no group demonstrated deficits on verbal, nonverbal, or memory measures. In contrast, when controlling for effects of IQ, the expressing fragile X women exhibited (1) deficits on measures of frontal lobe functioning, and (2) enhanced performance on verbal, but not figural, memory. Frontal lobe deficits may account for behavioral and cognitive manifestations of fragile X.
在10名表达率≥2%的脆性X综合征女性、10名0%的 obligate携带者和10名对照者中，研究了脆性X综合征的神经认知表型及其与细胞遗传学表达的关系。对智力、成就以及语言、非语言、记忆和额叶功能进行了测量。结果显示，没有一组在语言、非语言或记忆测量中表现出缺陷。相比之下，在控制智商影响时，表达脆性X综合征的女性表现出：（1）额叶功能测量存在缺陷；（2）在语言记忆而非图形记忆方面表现增强。额叶缺陷可能是脆性X综合征行为和认知表现的原因。
