The autism diagnosis has been based on information collected from clinical assessments. These data points include a battery of clinical tests, level of participation in social interaction, communication skills, repetitive behaviors, and parent surveys. However, the advances in the understanding of the genetic architecture of autism spectrum disorders (ASDs) have been shifting the paradigm to a model that integrates unique biological and clinical features of the person and the health problem into clinical management. Therefore, the future focus on autism treatment is to identify biological markers or biomarkers to prevent, diagnose, treat and prognosticate autism. According to Strimbu and Tavel (2010), a biomarker is “a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention.”
Genetic testing may reveal a genetic susceptibility of an individual to develop Autism Spectrum Disorder. A diagnostic biomarkers may help the earlier detection of autism. A prognostic biomarker may indicate how a condition will be developed in an individual who is already diagnosed. A predictive biomarker helps determine which individuals are most likely to benefit from a specific treatment option.
There are several organizations, such as Autism Sequencing Consortium and Autism Biomarkers Consortium for Clinical Trials (ABC-CT) developing more objective knowledge to diagnose and treat autism spectrum disorder. According to Schaerer (2016) “recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%–40% of cases. Based on early reports newer, emerging genomic technologies are likely to increase this diagnostic yield to over 50%”. Heritability estimates over the past 20 years for ASD have been in the range of 70 to 90%.
Emerging biomarkers include genetics (genes susceptibility) and epigenetics findings, electroencephalograms (EEG) and MRI to measure brain function and structure, biochemical measures such as analysis of blood plasma metabolites, proteins, platelet serotonin, lower melatonin secretion/excretion; increased oxidative stress. Other diagnostic tools that can be considered biomarkers include eye tracking technology to measure visual attention, heart rate, pupil response, head circumference, dysmorphology and automated recording techniques to assess behavior and speech.
We hope that in the near future, the identification of quantifiable biomarkers related to genetic, biochemical, electrophysiological and behavioral mechanisms improve the diagnosis, prognosis and treatment of Autism Spectrum Disorder.
Francisco Monegro currently serves as the residential Clinical Director of adult services programs at QSAC. He is also a consultant on autism for the PSCH clinic and the Shield Institute. Dr. Monegro received his MD/PhD in clinical psychology from the University of Santo Domingo/University of Kansas. In 1988, he received a diploma from the American Board of Medical Psychotherapists, Nashville, and from the International Academy of Behavioral Medicine, Counseling and Psychotherapy, Dallas, TX.