The activation of extracellular signal-related kinase (ERK), a key enzyme in cellular signaling, may prove to be a useful biomarker in autism, as an aid in early diagnosis, a predictor of treatment response, and perhaps as a predictor of long-term outcomes. ERK is being used as a biomarker in fragile X syndrome because ERK activation is delayed in blood samples of people with the disorder, compared with controls.

Craig Erickson and his colleagues at Cincinnati Children’s Hospital are conducting pilot studies as a first step towards developing an ERK activation biomarker for autism spectrum disorders. An ERK activation blood biomarker may be an effective tool for grouping individuals on the autism spectrum using a quantitative, readily evaluated measure. It may also provide a diagnostic method that is linked to the underlying neurobiology of autism.

Erickson’s group aims to first determine whether ERK activation shows signs of dysregulation in peripheral blood samples of people with autism spectrum disorders of unknown cause, which comprise the majority of cases. They plan to use two control groups: age- and gender-matched neurotypical peers and age- and gender-matched peers matched for intellectual ability (as measured by intelligence quotients). A second aim is to determine whether ERK activation measurement shows test-retest reliability in this population. Finally, Erickson’s team plans to test 12 blood samples from the Simons Simplex Collection, a set of genetic and biological data and biospecimens from 2,700 families affected by autism, to determine whether stored blood samples show results similar to those obtained from fresh samples.