Biomarkers in autism

Front Psychiatry. 2014 Aug 12:5:100. doi: 10.3389/fpsyt.2014.00100. eCollection 2014.


Autism spectrum disorders (ASDs) are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression, and measures of the body's metabolism are growing. For this article, we review the published studies of potential biomarkers in autism and conclude that while there is increasing promise of finding biomarkers that can help us target treatment, there are none with enough evidence to support routine clinical use unless medical illness is suspected. Promising biomarkers include those for mitochondrial function, oxidative stress, and immune function. Genetic clusters are also suggesting the potential for useful biomarkers.

Keywords: autism spectrum disorders; biomarker; epigenetics; genetics; neuroimaging; treatment targets.

Publication types

  • Review