Cognitive function in Rett syndrome: profoundly impaired or near normal?

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Original languageEnglish
JournalEuropean Journal of Paediatric Neurology
Volume22
Issue number1
Early online date21 Dec 2017
DOIs
StatePublished - Jan 2018

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disorder that predominantly affects girls. Following a short period of apparently near-normal development, the children regress, with most losing any acquired speech and functional hand-use, the latter being replaced by characteristic hand stereotypies. The traditional view has held that children with RTT are profoundly cognitively impaired; typical estimates have suggested a mental development of around 8–12 months. Despite this, parents often insist that their child shows a good level of understanding, highlighting the very intense eye contact and apparent communication by eye-pointing seen in many of the children (e.g. 2). Cognitive assessment is undoubtedly challenging in individuals with profound physical disabilities, especially in those without purposeful hand-use or speech. As a consequence, conventional testing methods, which require motor or verbal responses or both, are inappropriate for children with RTT. Recent advances in eye-gaze (or eye-tracking) technology, however, offer a way for people with RTT to make choices and, moreover, communicate independently. Initial reports from Djukic and colleagues (e.g. 1) made the intriguing observation that children with RTT explore novel stimuli with their eyes in a similar way to neurotypical children, suggesting that they derived meaning from the stimuli in a comparable way to their peers. While this seemed to support the perception of parents and questioned a low mental development, it was based on a somewhat indirect and passive measurement.

Keywords

  • vision sciences, Rett syndrome, neurodevelopmental disorder