TDNet Discover

Background: Autism spectrum disorder (ASD) is a disorder that materializes during a patient’s youth and can affect how they relate to others due to deficits in communication and social interactions. It is important for ASD to be diagnosed early so treatment can be most effective. In order for early treatment to be implemented, finding a biomarker that can be indicative of the disease earlier in the child’s life may lead to better outcomes. Purpose: The purpose of this review is to investigate current literature of biomarker testing and the relationship with autism spectrum disorder (ASD) and to propose how key findings could be integrated into clinical practice to standardize the diagnosis of ASD. Methods: A systematic review of PubMed, Ebsco Information Services, Google Scholar, Cochrane Library, MEDLINE Complete, and Social Science Research Network was conducted from November 2023 through April 2024. Seven criteria were applied as search parameters yielding a total of 66,708 articles. These articles underwent a title and abstract review in which 23 articles were chosen for quality assessment. Ten articles showing promising biomarkers in the diagnosis of ASD went for a separate panel review. Six of the ten articles proved to best answer the proposed question and were approved for further analysis. These articles underwent data extraction, and the results were organized for further evaluation and consideration. Results: Within the six articles, many mechanisms of assessing biomarkers were considered: imaging via magnetic resonance imaging (MRI), blood and plasma levels, and molecular or v metabolic findings. These were followed retrospectively in patients with clinically diagnosed ASD versus patients without ASD who acted as the control subjects in the studies. Across the studies, aberrancies between those with ASD and controls were prominent enough to consider the biomarkers as a potential diagnostic tool. At this time, one biomarker cannot be definitively diagnostic of ASD to be implemented clinically. This is partially due to the heterogeneity across the studies and among the individuals studied because of the spectrum of ASD as seen clinically. These limitations must be considered in further studies to suggest these mechanisms as approved diagnostic markers. Conclusion: The articles studied suggest that there are biomarkers that have a strong relationship with the diagnosis of ASD. While some of the biomarkers seem promising, at this time, no single one can be implemented clinically, as further testing is needed to validate the utility of these biomarkers in the diagnosis. Current literature lacks specificity of the participants’ history, a connection of severity of disease to biomarker prevalence, and is limited by small sample sizes.