Autism spectrum disorder: advances in diagnosis and evaluation

Abstract

Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is generally associated with substantial disability throughout the lifespan. Recent advances have led to earlier diagnosis, and deep phenotyping efforts focused on high risk infants have helped advance the characterization of early behavioral trajectories. Moreover, biomarkers that measure early structural and functional connectivity, visual orienting, and other biological processes have shown promise in detecting the risk of autism spectrum disorder even before the emergence of overt behavioral symptoms. Despite these advances, the mean age of diagnosis is still 4-5 years. Because of the broad consistency in published guidelines, parameters for high quality comprehensive assessments are available; however, such models are resource intensive and high demand can result in greatly increased waiting times. This review describes advances in detecting early behavioral and biological markers, current options and controversies in screening for the disorder, and best practice in its diagnostic evaluation including emerging data on innovative service models.