Autism spectrum disorder (ASD) manifests as impaired social communication and repetitive, perseverative behavior. Intensive behavioral interventions improve outcomes, but almost all affected children have life-long impairment. No available medication has been shown to improve core symptoms. With a dearth of available treatments, interest has turned to emerging genetic and environmental risk factors that may point to underlying mechanisms. The most promising initial leads have been in rare genetic syndromes (&lt;2% of total cases) that frequently include ASD symptoms, including fragile X syndrome, Rett syndrome, and tuberous sclerosis complex. Studies in genetic mouse models of these syndromes have identified potential treatments that rescue brain and behavioral phenotypes. The first portion of the presentation will focus on efforts to translate these findings from mice into humans, including initial results of clinical trials in each syndrome. The second portion of the presentation will focus on opportunities to identify convergent mechanisms that may extend to larger subgroups of children defined by either biomarkers or genetics. As an example of this possibility, elevated blood serotonin levels are found in ~25-30% of children with ASD and are modeled in a knock-in mouse for a rare serotonin transporter Ala56 variant. Discussion will focus on opportunities and challenges in developing novel medications based upon rare risk factors as well as the potential for one or more of these treatments to translate into the broader ASD population.

Harnessing rodent models to develop new therapeutic targets in autism spectrum disorder

249th National Meeting (2015)

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