The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome)
The neural correlates of non-spatial working memory in velocardiofacial syndrome (22q11.2 deletion syndrome)
复制标题
DOI：
10.1016/j.neuropsychologia.2007.05.007
复制
发表时间：
2007-01-01
期刊：
影响因子：
2.6
通讯作者：
Shprintzen, Robert J.
中科院分区：
文献类型：
--
作者：
Kates, Wendy R.;Krauss, Beth R.;Shprintzen, Robert J.
VCFS，又称22q11.2缺失综合征，是一种与学习障碍和一致的神经心理表型相关的神经遗传性疾病，包括执行功能、震荡空间知觉和工作记忆缺陷。解剖成像研究发现，VCFS患者的顶叶体积显著减少，但有几项研究报告额叶相对保留。我们使用功能磁共振成像研究了17名患有VCFS的青少年、10名他们未受影响的兄弟姐妹和10名社区对照组(学习障碍的比例与VCFS青少年相同)的非空间工作记忆的神经相关性。兄弟姐妹的任务表现往往比VCFS儿童更准确，而VCFS儿童与社区控制组没有区别。所有三个研究小组都招募了在位置和大小上相同的顶区。虽然兄弟姐妹组还招募了背外侧前额叶皮质(DLPFC)、布罗卡区和前扣带回，但在VCFS儿童和对照组的整个大脑分析中，DLPFC的激活是缺失的。此外，与兄弟姐妹和对照组相比，VCFS参与者的额叶激活程度受到限制。这些发现表明，VCFS参与者表现出额叶活动不足，这与表现无关。此外，VCFS儿童和对照组(许多患有特发性学习障碍)似乎依赖语音排练来在线保存信息，而不是DLPFC。因此，尽管先前的解剖MRI报告显示VCFS的额叶体积被保留，但这些fMRI发现表明，在患有这种疾病的年轻人中，为执行功能和工作记忆服务的分布式网络的额叶成分可能受到破坏。(C)2007爱思唯尔有限公司。保留所有权利。
Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a neurogenetic disorder that is associated with both learning disabilities and a consistent neuropsychological phenotype, including deficits in executive function, vistrospatial perception, and working memory. Anatomic imaging studies have identified significant volumetric reductions in the parietal lobe of individuals with VCFS, but several studies have reported that the frontal lobe is relatively preserved. We used functional magnetic resonance imaging to investigate the neural correlates of non-spatial working memory in 17 youths with VCFS, 10 of their unaffected siblings, and 10 community controls (with the same proportion of learning disabilities as the VCFS youths). Task performance of siblings tended to be more accurate than children with VCFS, who did not differ from community controls. All three-study groups recruited parietal regions that were equivalent in location and magnitude. Whereas the sibling group also recruited the dorsolateral prefrontal cortex (DLPFC), Broca's area, and anterior cingulate, DLPFC activation was absent in the whole brain analyses of children with VCFS and controls. Moreover, the magnitude of frontal activation in VCFS participants was restricted relative to both siblings and controls. These findings suggest that VCFS participants exhibit frontal hypoactivation that is not attributable to performance. In addition, VCFS children and controls (many with idiopathic learning disabilities) appear to rely on phonological rehearsal to hold information on line instead of the DLPFC. Despite previous anatomic MRI reports of preserved frontal lobe volumes in VCFS therefore, these fMRI findings suggest that the frontal component of the distributed network subserving executive function and working memory may be disrupted in youth with this disorder. (c) 2007 Elsevier Ltd. All rights reserved.