Somatosensory abnormalities in genetic models of autism spectrum disorders

Sensory abnormalities are a common feature in autism spectrum disorders (ASD). Similarly, sensory deficits have been described in mice lacking ASD-associated genes. In our laboratory, we investigate somatosensory abnormalities in Cntnap2 and Shank3b mutant mice, two well-characterized mouse models of ASD. When compared to controls, both strains of mutant mice displayed impaired whisker-dependent discrimination in the textured novel object recognition test (tNORT). Shank3b but not Cntnap2 mutant mice also showed avoidance behavior responses to repetitive whisker stimulation. Impaired whisker-dependent behaviors were accompanied by altered c-fos mRNA induction following whisker stimulation, with Cntnap2 and Shank3b mutants showing c-fos mRNA up- and down-regulation within the primary somatosensory cortex (S1). The different c-fos mRNA induction profiles observed in the two mutant strains were paralleled by different connectivity within S1: resting-state fMRI revealed S1 hyper- and hypo-connectivity in Cntnap2 and Shank3b mutant mice, respectively. Preliminary data suggest that somatosensory abnormalities observed in Cntnap2 and Shank3b mutant mice are associated to neuroimmune dysfunction. Our data indicate that are Cntnap2 and Shank3b mutant mice are reliable models to investigate somatosensory abnormalities that characterize ASD. None.