Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands.
Rett Expertise Centre Netherlands - GKC, Maastricht University Medical Center, Maastricht, The Netherlands; Division of Balance Disorders, Department of Otorhinolaryngology and Head and Neck Surgery, Maastricht University Medical Center, Maastricht, The Netherlands; Faculty of Physics, Tomsk State University, Tomsk, Russia.
Pediatr Neurol. 2018 Nov;88:48-58. doi: 10.1016/j.pediatrneurol.2018.08.022. Epub 2018 Aug 30.
Individuals with Rett syndrome (RTT) are notoriously reliant on the use of eye gaze as a primary means of communication. Underlying an ability to communicate successfully via eye gaze is a complex matrix of requirements, with an intact oculomotor system being just one element. To date, the underlying neural and motor pathways associated with eye gaze are relatively under-researched in RTT.
This study was undertaken to plug this gap in knowledge and to further the understanding of RTT in one specific area of development and function, namely oculomotor function.
The eye movements of 18 girls and young women with RTT were assessed by electronystagmography (ENG). This tested their horizontal saccadic and smooth pursuit eye movements as well as optokinetic nystagmus and vestibulo-ocular reflex. Their results were compared with normative data collected from 16 typically developing children and teenagers.
Overall, the individuals with RTT demonstrated a range of eye movements on a par with their typically developing peers. However, there were a number of difficulties in executing the ENG testing with the RTT cohort which made quantitative analysis tricky, such as reduced motivation and attention to test materials and low-quality electrode signals.
This study suggests that individuals with RTT have an intact oculomotor system. However, modifications should be made to the ENG assessment procedure to combat problems in testing and add strength to the results. Further investigation into these testing difficulties is warranted in order to inform such modifications.
雷特综合征（RTT）患者严重依赖眼球注视作为主要的交流方式。成功通过眼球注视进行交流的能力背后是一个复杂的要求矩阵，而完整的眼球运动系统只是其中的一个要素。迄今为止，RTT 相关的眼球注视的神经和运动通路在很大程度上仍未得到研究。
本研究旨在填补这一知识空白，并深入了解 RTT 在特定发育和功能领域，即眼球运动功能方面的情况。
通过眼震电图（ENG）评估了 18 名患有 RTT 的女孩和年轻女性的眼球运动。该测试检查了她们的水平扫视和平滑追踪眼球运动以及视动性眼球震颤和前庭眼反射。将她们的结果与从 16 名典型发育的儿童和青少年收集的正常数据进行了比较。
总体而言，患有 RTT 的个体表现出与典型发育同龄人相当的一系列眼球运动。然而，在对 RTT 队列进行 ENG 测试时，存在一些困难，例如降低了对测试材料的动机和注意力，以及电极信号质量低，这使得定量分析变得棘手。
本研究表明，患有 RTT 的个体具有完整的眼球运动系统。然而，应该对 ENG 评估程序进行修改，以解决测试中的问题，并增强结果的可信度。需要进一步研究这些测试困难，以便为这些修改提供信息。
