Neural predictors of autism symptoms and language in Fragile X Syndrome
Carol Wilkinson, MD, PhD
BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. In addition to cognitive deficits, children with FXS often struggle with significant language delays and behavioral challenges, and nearly half of all individuals meet criteria for Autism Spectrum Disorder (ASD).
GAP: Clinical trials for FXS have been limited by suboptimal outcome measures, which do not directly represent underlying neuropathology. Despite extensive research in animal models, only a handful of studies have investigated brain activity and function in children with FXS.
HYPOTHESIS: This study will use electrophysiology to identify and characterize neural markers of cognitive, language, and behavioral deficits in young boys with FXS. We hypothesize that boys with FXS will have increased amplitude in their auditory and visual evoked potentials, and this will positively correlate with sensory hypersensitivities. We also hypothesize that reduced habituation to repeated stimuli will negatively correlate with cognitive measures.
METHODS: High density EEG (resting state and sensory evoked potentials) will be collected and analyzed from boys aged 32-66 months with and without FXS. Correlations will be performed with a range of cognitive, language, and behavioral measures.
IMPACT: This study will improve our understanding of the neural mechanisms underlying cognitive, language, and behavioral deficits in FXS, and in turn facilitate the development of targeted drug and behavioral based interventions. Improved understanding of similarities and differences between FXS and ASD will also help translate findings in FXS to the broader ASD community.