Modern Biomarkers for Autism Spectrum Disorder: Future Directions

Autism spectrum disorder is an increasingly prevalent neurodevelopmental disorder in the world today, with an estimated 2% of the population being affected in the USA. A major complicating factor in diagnosing, treating, and understanding autism spectrum disorder is that defining the disorder is solely based on the observation of behavior. Thus, recent research has focused on identifying specific biological abnormalities in autism spectrum disorder that can provide clues to diagnosis and treatment. Biomarkers are an objective way to identify and measure biological abnormalities for diagnostic purposes as well as to measure changes resulting from treatment. This current opinion paper discusses the state of research of various biomarkers currently in development for autism spectrum disorder. The types of biomarkers identified include prenatal history, genetics, neurological including neuroimaging, neurophysiologic, and visual attention, metabolic including abnormalities in mitochondrial, folate, trans-methylation, and trans-sulfuration pathways, immune including autoantibodies and cytokine dysregulation, autonomic nervous system, and nutritional. Many of these biomarkers have promising preliminary evidence for prenatal and post-natal pre-symptomatic risk assessment, confirmation of diagnosis, subtyping, and treatment response. However, most biomarkers have not undergone validation studies and most studies do not investigate biomarkers with clinically relevant comparison groups. Although the field of biomarker research in autism spectrum disorder is promising, it appears that it is currently in the early stages of development.

Automated summary

Autism spectrum disorder is a prevalent neurodevelopmental disorder, and recent research has focused on identifying specific biological abnormalities as biomarkers for diagnosis and treatment. Various biomarkers, including prenatal history, genetics, neurology, metabolism, immune system, autonomic nervous system, and nutrition, have shown promising preliminary evidence for risk assessment, diagnosis, subtyping, and treatment response. However, validation studies and clinically relevant comparison groups are lacking in most studies, indicating that biomarker research in autism spectrum disorder is still in the early stages of development.