From Genes to Therapy in Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with onset in early childhood. While highly heterogeneous, its core manifestations always include persistent difficulties in social interaction and communication, as well as a pattern of restricted interests and/or repetitive behaviors. In addition, psychiatric comorbidity is frequent and genetic risk overlaps with some other mental and neurodevelopmental disorders. This condition in most cases persists over the lifespan, with high social, educational, and health care costs.

Current psychopharmacological treatment can improve many comorbid symptoms, but not core autism symptom domains, which have a dramatic impact on the quality of life of patients and their families. A better understanding of the pathophysiological mechanisms underlying these symptoms is a crucial first step towards the development of such treatments. Over the past decade or so, it has become increasingly clear that ASD is highly heterogeneous, both at the phenotypic level (symptoms, co-morbidity, adaptive behavior, cognition, and trajectory) and at the level of etiology (genotype, environmental factors, neurobiological mechanisms). This heterogeneity poses a formidable challenge to those working to discover pharmacological treatments for the condition.

This challenge is at the heart of this Special Issue. Here, we aim to collect a set of contributions providing state-of-the-art coverage ranging from the theoretical framework linking genetics to human behavior and therapy, to initial practical examples of how genetics can provide valuable insights into the personalized clinical management of individuals with autism. In addition to the role of “autism genes”, special attention will be devoted to function-specific “gene networks”, to what they can tell us about the neurobiological processes underlying ASD, and how this information can in turn generate psychopharmacological predictions, testable using ethical and clinically reliable approaches.

Prof. Christine M. Freitag
Dr. Jacob A. S. Vorstman
Prof. Antonio Persico
Guest Editors

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