Advancements in autism spectrum disorder research --from mechanisms to interventions

Abstract

This review summarizes recent advancements in the research of autism spectrum disorders (ASD), emphasizing genetic underpinnings and their implications for neurodevelopment and cognitive functions. It explores both syndromic and nonsyndromic ASD, highlighting the discovery of critical ASD-related genes and their mechanistic roles as revealed by studies using genetically engineered mouse and non-human primate models. While these models have shed light on the potential of synaptic dysfunction to disrupt brain development, they also underscore the challenges of replicating complex cognitive dysfunctions observed in ASD. Recent successes in gene therapy, particularly through innovative approaches like gene replacement and base editing, offer promising pathways for addressing genetic anomalies in ASD. These therapeutic strategies, underscored by clinical trials and cutting-edge genetic manipulation techniques, pave the way for potential interventions that could profoundly impact ASD management and treatment.