Advances in Biomarker Studies in Autism Spectrum Disorders

Adv Exp Med Biol. 2019;1118:207-233. doi: 10.1007/978-3-030-05542-4_11.


Autism spectrum disorder (ASD) is a neurological and developmental condition that begins early in childhood and lasts throughout life. The epidemiology of ASD is continuously increasing all over the world with huge social and economical burdens. As the etiology of autism is not completely understood, there is still no medication available for the treatment of this disorder. However, some behavioral interventions are available to improve the core and associated symptoms of autism, particularly when initiated at an early stage. Thus, there is an increasing demand for finding biomarkers for ASD. Although diagnostic biomarkers have not yet been established, research efforts have been carried out in neuroimaging and biological analyses including genomics and gene testing, proteomics, metabolomics, transcriptomics, and studies of the immune system, inflammation, and microRNAs. Here, we will review the current progress in these fields and focus on new methods, developments, research strategies, and studies of blood-based biomarkers.

Keywords: Autism spectrum disorder; Biomarker; Diagnosis; Prediction; Proteomics.

Publication types

  • Review

MeSH terms

  • Autism Spectrum Disorder / diagnosis*
  • Biomarkers*
  • Genomics
  • Humans
  • Metabolomics
  • Neuroimaging
  • Proteomics
  • Transcriptome


  • Biomarkers