Abstract
BackgroundIndividuals 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. PurposeThis 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. Material and MethodsThe 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. ResultsOverall, 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. ConclusionsThis 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.
Highlights
The study we report in this article, conducted with individuals with Rett syndrome (RTT), focuses on examination of saccades, smooth pursuit (SP), optokinetic nystagmus (OKN), and vestibulo-ocular reflex (VOR)
The Department of Otorhinolaryngology (ENT) at Maastricht University Medical Center (MUMC+)—an international center specializing in central and peripheral vestibular disorders and disorders of the oculomotor system—regularly conducts oculomotor assessments through ENG. By applying these tests to the individuals with RTT who were coming into the hospital, we aimed to discover more about the impact that disturbances in Methyl-CpG-binding protein 2 (MECP2) may exert on the oculomotor system of individuals with RTT
The RTT cohort consisted of 18 girls and young women aged between two years seven months and 25 years 11 months, all of whom had a clinical and genetic diagnosis of Rett syndrome
Summary
G.S. Townend et al / Pediatric Neurology 88 (2018) 48−58 underlying motor pathways associated with eye gaze are relatively under-researched in RTT. This study was undertaken in order to plug this gap in knowledge and to further our understanding of RTT in this specific area of development and functioning. PURPOSE: 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. MATERIAL AND METHODS: 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. Further investigation into these testing difficulties is warranted in order to inform such modifications
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