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Autism spectrum disorder test5/8/2024 The limitations of biomarkers and the current studies will be discussed along with insights into how biomarkers might be used in the future. This review will discuss emerging and promising biomarkers that could advance the diagnosis and treatment of ASD. Biomarkers have the potential to be utilized in several aspects of clinical care for patients with ASD, including promoting early diagnosis and selecting effective treatments. According to the Biomarkers Definitions Working Group ( 8), common applications of biomarkers include biomarkers which (I) can help diagnose a disease by identifying individuals with an abnormal biological process, (II) can classify disease severity, (III) can indicate prognosis or (IV) can predict or monitor response to therapy. Biomarkers developed to measure these biological abnormalities accurately could be important in the diagnosis and management of ASD.īiomarkers are objective measures of biological or pathophysiological processes, or pharmacologic responses to therapeutic interventions ( 8). However, many promising areas of research have uncovered abnormal biological processes that are associated with ASD. The complications resulting from this approach are discussed in more detail below, but the fact remains that there is no proven biological measurement (e.g., blood test or radiological scan) which can identify pathophysiological processes that can aid in the diagnosis or treatment of ASD at this time. One of the major limitations when identifying, diagnosing, treating and understanding ASD is the fact that ASD is exclusively defined based on the observation of behaviors by trained or untrained individuals. In addition, the disability of a child creates a spillover effect, decreasing the quality of life for the entire family ( 5- 7). Children with ASD require significant support from the educational, medical and social systems that results in a significant economic burden ( 3) which is estimated to cost the US approximately $268 billion in 2015 ( 4). Even more significant is the fact that ASD does not occur in isolation. The prevalence of ASD has increased significantly over the past three decades and now is estimated to affect 2% ( 1) or more ( 2) of children in the United States (US). It is likely that biomarkers will need to be combined to be effective to identify ASD early and guide treatment.Īutism spectrum disorder (ASD) is perhaps one of the most important medical disorders of our era because of the number of people it affects. However, many biomarkers are preliminary and need to be validated and their role in the diagnosis and treatment of ASD needs to be defined. Many promising biomarkers have been developed for ASD. Biomarkers of ASD may be found prior to birth and after diagnosis and some may predict response to specific treatments. Biomarkers identified by our review included physiological biomarkers that identify neuroimmune and metabolic abnormalities, neurological biomarkers including abnormalities in brain structure, function and neurophysiology, subtle behavioral biomarkers including atypical development of visual attention, genetic biomarkers and gastrointestinal biomarkers. Here we underwent a systematic review of the literature on ASD to identify promising biomarkers and rated the biomarkers in regards to a Level of Evidence and Grade of Recommendation using the Oxford Centre for Evidence-Based Medicine scale. Biomarkers that identify children at risk during the pre-symptomatic period, assist with early diagnosis, confirm behavioral observations, stratify patients into subgroups, and predict therapeutic response would be a great advance. ![]() Therapeutic interventions are most effective if started early in life, yet diagnosis often remains delayed, partly because the diagnosis of ASD is based on identifying abnormal behaviors that may not emerge until the disorder is well established. Autism spectrum disorder (ASD) affects approximately 2% of children in the United States (US) yet its etiology is unclear and effective treatments are lacking.
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