Biomarkers in autism: Bridging basic research with clinical research

Autism spectrum disorder (ASD) is a highly heritable, complex neurodevelopmental disorder characterized by impaired social interaction and communication as well as restricted repetitive behaviors presenting in early childhood. There is no curative treatment for ASD, but early intensive behavioral treatment can significantly improve long-term developmental outcomes. However, evidence to assist clinicians in more individualized treatment recommendations for ASD is lacking. Understanding the associations between specific biomarkers and phenotype and functional presentations in ASD could facilitate earlier identification of individuals at risk, ensure better provision of genetic counseling, enhance prediction and tracking of outcomes and aid in more targeted treatments, as well as more accurately identify the potential risk of adverse treatment effects.

Carolyn Bridgemohan and colleagues at five clinical sites investigated correlations between biochemical, behavioral and physical biomarkers in children ages 5 to 10 years with ASD. The study, which was partially funded by SFARI, involved measuring platelet serotonin and urinary melatonin levels and evaluating potential associations between these biomarkers and physical features, including dysmorphology status, head circumference and digit ratios, as well as behavioral and cognitive profiles¹. An additional major objective of the project was to determine the best approach for conducting research within the clinical setting in order to guide future clinical translational research studies within the Autism Consortium network in Boston². To address this aim, families and clinicians involved in the study were asked to provide information about the perceived impact of research activities on clinical visits.