Investigation of Rare Neurodevelopmental Disorders

Niamh McDevitt, Clodagh O'Keeffe, Elisbetta Melis, Prof Louise Gallagher, Prof Richard Reilly

The overarching aim of this research is the characterization of the underlying neural mechanisms of FXS in order to develop clinically useful biomarkers that may be useful as endpoints for treatments for FXS or as predictors of disease severity but that also may help to characterize more complex FXS associated neurodevelopmental such as ASD disorders through comparison with FXS.

This overarching aim can be broken down as follows:

• To understanding the perspectives of parents of people affected by intellectual and developmental disabilities in order to develop research strategies that would be beneficial to people who live day to day with these disorders.
• To compare core symptoms of FXS and ASD in order to understand more about where there are truly overlaps between FXS and ASD, through both behavioural and electrophysiological data.
• To investigate the use of FXS as a portal disorder to understanding more about the underlying neurobiology of more complex disorders such as ASD which overlap significantly with FXS, through a variety of cognitive, behavioural and electrophysiological data.
• To characterize fXPCs through a variety of cognitive, behavioural and electrophysiological tests in order to understand more about the effect of the FMR1 premutation on neural mechanisms