Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

Front Mol Neurosci. 2013 Aug 5;6:19. doi: 10.3389/fnmol.2013.00019. eCollection 2013.


Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.

Keywords: animal model; autism spectrum disorder; genetics; synapse; synaptopathy; therapeutics.