Peters Sarika U, Katzenstein Ashley, Jones Dorita, Key Alexandra P
Department of Pediatrics, Vanderbilt University Medical Center, United States; Vanderbilt Kennedy Center for Research on Human Development, United States.
Vanderbilt University, United States.
Brain Res. 2017 Nov 15;1675:71-77. doi: 10.1016/j.brainres.2017.08.028. Epub 2017 Sep 1.
Despite significant advances at the level of basic research, the characterization of higher-level processes in Rett and MECP2 Duplication syndrome remains understudied. In this pilot study, we assessed social-emotional information processing by testing whether children (ages 4-12years) with Rett (n=9) and MECP2 Duplication syndrome (n=7) distinguished their own spoken name from other names. We hypothesized that own and familiar names would elicit more positive parietal P300 responses than unknown names, and that the groups would have different neural responses to these stimuli. The MECP2 Duplication group partially mirrored the parietal responses to own name observed in typically developing participants, and better name discrimination correlated with more adaptive behaviors. Conversely, participants with RTT did not resemble the typical group, and showed greater responses to close other names at frontal/central regions. These results may reflect the different consequences of too much (MECP2 Duplication) vs. too little (RTT) MeCP2 protein.
尽管在基础研究层面取得了重大进展，但雷特综合征和MECP2重复综合征中高级过程的特征仍未得到充分研究。在这项初步研究中，我们通过测试患有雷特综合征（n = 9）和MECP2重复综合征（n = 7）的儿童（4至12岁）能否将自己的名字与其他名字区分开来，来评估社会情感信息处理能力。我们假设，自己的名字和熟悉的名字会比陌生名字引发更积极的顶叶P300反应，并且这两组对这些刺激会有不同的神经反应。MECP2重复组部分反映了在正常发育参与者中观察到的对自己名字的顶叶反应，更好的名字辨别能力与更具适应性的行为相关。相反，雷特综合征患者与典型组不同，在额叶/中央区域对相近的其他名字表现出更大的反应。这些结果可能反映了MeCP2蛋白过多（MECP2重复）与过少（雷特综合征）的不同后果。
