Fragile X Syndrome

Fragile X Syndrome: An Investigation of Cognitive Motor Deficits Using Ocular-Motor Paradigms

Chief Investigators

Dr Nicole Rinehart
Dr Joanne Fielding
Assoc Prof Kylie Gray


Esther S. Ginsberg

The Study

Fragile X Syndrome has been identified as the leading inherited condition linked to intellectual disability and to a number of physical and physiological complaints. The highly variable characteristics shown by the affected individuals have been so far associated with the diminution or absence of the functional product of only one gene. Some Fragile X Syndrome patients exhibit features common to other nosological entities, such as autism or Prader Willi Syndrome, suggesting that the genetic and/or protein pathways underlying these disorders intersect at certain points. This research aims at characterising the cognitive-motor deficits of Fragile X Syndrome by studying eye movements performed in defined contexts and in relation to specific task directions.

The exploration of eye movements is a simple, non-invasive way of investigating brain function because the eyes are easily available for inspection and the activity related to ocular movements can be generated in practically every part of the brain. A comparison of the ocular activity in Fragile X Syndrome and in entities with an overlapping phenotype may point to similarities or differences in the neural circuits and structures involved.

For more information, please contact Dr Nicole Rinehart.