Oculomotor Function in Individuals With Rett Syndrome

Gillian S. Townend*, Raymond van de Berg, Laurel H. M. de Breet, Monique Hiemstra, Laura Wagter, Eric Smeets, Josine Widdershoven, Herman Kingma, Leopold M. G. Curfs

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


BACKGROUND: 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. 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. Their results were compared with normative data collected from 16 typically developing children and teenagers. RESULTS: 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. CONCLUSIONS: 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. (C) 2018 The Authors. Published by Elsevier Inc.
Original languageEnglish
Pages (from-to)48-58
Number of pages11
JournalPediatric Neurology
Publication statusPublished - 1 Nov 2018


  • Rett syndrome
  • Oculomotor function
  • Electronystagmography
  • Eye movements
  • Eye tracking
  • MECP2

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