FMRI STDY OF FRAGILE X SYNDROME AND ABERRANT GAZE BEHAVIOR

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study was performed to fortify knowledge of Fragile X syndrome and aberrant gaze behavior, as well as utilizing a disorder of known genetic etiology to advance understanding of other disorders with social deficits. By utilizing functional magnetic resonance imaging during a gaze processing task, we sought to determine neural correlates associated with gaze avoidance behavior in adolescent males with Fragile X syndrome. Eye contact is a fundamental component of social interactions. A disruption in the ability to perceive, maintain, or regulate eye gaze has profound influence on social and neural development. Fragile X Syndrome (FXS), the most common known form of inherited mental retardation, is often noted for a behavioral propensity to avoid direct eye contact during social interactions. A previous study looking at the gaze processing of adolescent girls with FXS found girls with the syndrome did have aberrant gaze processing as compared to age and gender-matched controls. This study looked at the gaze processing in males with the disorder, as males are more affected by the syndrome due to the reliance on a single X chromosome, as well as a comparison with age and gender-matched controls and age, IQ, and gender-matched controls. The results indicate that males with the disorder show hyper-activation in limbic regions when eye gaze is directed toward them and recruit medial prefrontal areas when gaze is directed away from them, patterns that are distinct from both groups of controls. In the future, we hope to do a functional connectivity study with both genders, an investigation of mirror neuron regions recruited for social interactions, as well as a direct gender comparison. The overarching goal is to aid in the development of behavioral therapies concentrated on the social abilities of those affected by the syndrome, as well as those with similar social impairments.