CHAPTER 15: Emerging Research towards the Understanding and Treatment of Autism

Autism and Autism Spectrum Disorders (ASD) are neurodevelopmental disorders affecting social skills, communication and behaviour. The prevalence of ASD is now recognized to be approximately 1:100. Although autism etiology is still largely undefined, there is convincing evidence of a familial effect. Significant research efforts are focused on defining genetic etiologies resulting from DNA mutations. This area of research has provoked several theories of autism etiology. One prevailing hypothesis suggests multiple DNA mutations converge on a few molecular pathways that regulate neuronal development and synapse formation to cause autism. Recent scientific findings define the regulation of synaptic protein synthesis as one critical pathway that is altered in several single-gene disorders associated with ASD. Defining the molecular neuropathophysiology underlying autism enables the development of effective therapies to treat the core symptoms of autism. Mechanism-based approaches are currently being tested in human trials. Clinical development of new therapies for autism faces significant challenges including the lack of validated outcome measures for efficacy. Identification of molecular and neurobehavioural biomarkers would directly address some of the clinical challenges faced in treating this heterogeneous patient population and speed development of novel therapeutics.