Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task.
Adult Female Fragile X Premutation Carriers Exhibit Age- and CGG Repeat Length-Related Impairments on an Attentionally Based Enumeration Task.
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DOI：
10.3389/fnhum.2011.00063
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发表时间：
2011-01-01
影响因子：
2.9
通讯作者：
Simon, Tony J
中科院分区：
文献类型：
--
作者：
Goodrich-Hunsaker, Naomi J;Wong, Ling M;Simon, Tony J
脆弱 X 前突变在普通人群中的高频率及其新出现的神经认知影响凸显了研究前突变对终生认知发展的影响的必要性。直到最近，脆性 X 前突变携带者 (fXPC) 的认知功能还被认为不受该突变的影响。尽管作为一个群体，fXPC 与健康对照 (HC) 没有差异，但我们表明，通过基本数值计数任务测试，年轻成年女性 fXPC 表现出微妙的年龄和显着的脆弱 X 智力低下 1 (FMR1) 基因突变调节的认知功能。这些结果表明，具有前突变和具有较长 CGG 重复长度的 fXPC 的老年女性在部署计数 5-8 项所需的意志注意力方面面临更高的风险，但当注意力的空间转移最小化以分项少数项 (1-3) 时，表现会受到影响。当前研究的结果增加了越来越多的证据，表明前突变等位基因与微妙的表型相关，并意味着与 HC 相比，女性 fXPC 中计数所需的认知需求的部署效率较低。
The high frequency of the fragile X premutation in the general population and its emerging neurocognitive implications highlight the need to investigate the effects of the premutation on lifespan cognitive development. Until recently, cognitive function in fragile X premutation carriers (fXPCs) was presumed to be unaffected by the mutation. Although as a group fXPCs did not differ from healthy controls (HCs), we show that young adult female fXPCs show subtle age- and significant fragile X mental retardation 1 (FMR1) gene mutation-modulated cognitive function as tested by a basic numerical enumeration task. These results indicate that older women with the premutation and fXPCs with greater CGG repeat lengths were at higher risk for difficulties in the deployment of volitional attention required to count 5-8 items, but spared performance when spatial shifts of attention were minimized to subitize a few (1-3). Results from the current study add to a growing body of evidence that suggests the premutation allele is associated with a subtle phenotype and implies that the cognitive demands necessary for counting are less effectively deployed in female fXPCs compared to HCs.