“Circuit Dysfunction Underlying Atypical Sensory Processing in the Fragile X Mouse Model of Autism”

Carlos Portera-Cailliau, Ph.D., University of California, Los Angeles (UCLA) neurology and neurobiology professor, and his laboratory team recently discovered that tactile defensiveness and delayed perceptual learning in the Fmr1 knockout mouse model of fragile X syndrome are associated with specific circuit alterations in the somatosensory and visual cortex, respectively. Dr. Portera-Cailliau will provide a brief update of his group’s ongoing investigations into these deficits by summarizing two sets of unpublished studies. First, he will present recent results concerning how bumetanide (an FDA-approved diuretic that inhibits NKCC1 and NKCC2 sodium-potassium-chloride cotransporters) can rescue both tactile defensiveness and the impaired adaptation of neuronal activity in the barrel cortex of Fmr1 knockout mice in response to repetitive whisker stimulation. He will also present findings related to the effects of sensory distractors on the performance of both Fmr1 knockout mice and humans with fragile X syndrome in a visual discrimination task.