Current Progress and Challenges in the Search for Autism Biomarkers

Figure 1

Schematic classification of ASD biomarkers and their stage of development. Biomarkers shown with a solid red border (genetic markers for syndromes with high incidence of ASD) are already being used in the clinic; biomarker classes shown with a dashed red border are the subject of intensive research and show preliminary encouraging results; biomarker classes shown with a dark blue border are yet under development. The red arrow highlights the fact that at present the ASD diagnosis is established solely on standardized behavioral criteria. Risk biomarkers and biomarkers for early diagnosis may be applied before standard behavioral testing, while biomarkers for diagnostic validation and stratification and prognostic biomarkers would be employed after establishing an ASD diagnosis based on behavioral testing.