Autism spectrum disorder (ASD) is neuropsychiatric continuum of disorders characterized by persistent deficits in social communication and restricted repetitive patterns of behavior which impede optimal functioning. Early detection and intervention in ASD children can mitigate the deficits in social interaction and result in a better outcome. Various non-invasive imaging methods and molecular techniques have been developed for the early identification of ASD characteristics. There is no general consensus on specific neuroimaging features of autism; however, quantitative magnetic resonance techniques have provided valuable structural and functional information in understanding the neuropathophysiology of ASD and how the autistic brain changes during childhood, adolescence, and adulthood. In this review of decades of ASD neuroimaging research, we identify the structural, functional, and molecular imaging clues that most accurately point to the diagnosis of ASD vs. typically developing children. These studies highlight the 1) exaggerated synaptic pruning, 2) anomalous gyrification, 3) interhemispheric under- and overconnectivity, and 4) excitatory glutamate and inhibitory GABA imbalance theories of ASD. The application of these various theories to the analysis of a patient with ASD is mitigated often by superimposed comorbid neuropsychological disorders, evolving brain maturation processes, and pharmacologic and behavioral interventions that may affect the structure and function of the brain. LEVEL OF EVIDENCE: 4 TECHNICAL EFFICACY: Stage 3.
Keywords: MRI; autism; autism spectrum disorder; learning disability; pediatric.
© 2021 International Society for Magnetic Resonance in Medicine.