Approximately one in 36 children is diagnosed with autism spectrum disorder (ASD); however, most kids are diagnosed with ASD after the age of four, even though children can be diagnosed before the age of two (Loftus, 2024). Early intervention is crucial for better outcomes and for equipping families with the necessary tools and support. Only up until recently has the significance of early detection in research gained momentum, since previous decades of research have neglected this overlooked gap in pediatric care.
A major barrier to early diagnosis for ASD is our current reliance on behavioral observation, since it may not capture early-emerging differences in infants (Guy, 2017). In their research, Maggie Guy focused on identifying neural correlates that may signal ASD risk earlier in development. Guy et al. investigated neural responses to social stimuli, specifically faces, in infants who are at an elevated risk for ASD (Guy, 2017). By measuring event-related potential (ERP) components, such as the N290, which reflects automatic recognition of faces, and Nc, which reflects attention allocation and stimulus salience, they provided insight into early perceptual and attentional mechanisms. The team looked at infants with fragile X-syndrome (FXS) and infant siblings of children with ASD (ASIB) since these groups have a high susceptibility to developing ASD (Guy, 2017). Their findings highlight that both groups have different neural processing of social stimuli, even though they are both at an elevated risk for developing ASD. This means that they must have different, unique developmental trajectories from what was previously thought.
Other areas of research aiming to diagnose ASD earlier include the investigation of abnormal biological processes that are associated with ASD. Biomarkers are a great way to improve the diagnosis and treatment of ASD (Frye et al., 2019). In a systematic literature review conducted by Richard Frye et al., they pinpointed several distinct categories of biomarkers that are associated with the history of ASD. Examples of such biomarkers include, but are not limited to, behavioral, genetic, immune, metabolic, neuroimaging, and nutritional biomarkers (Frye et al., 2019).
In a study conducted by Anna Esparham et al., their team dove into specific nutritional and metabolic biomarkers in ASD. For example, such metabolic biomarkers associated with ASD included an elevated copper to zinc ratio due to lower levels of zinc, and low levels of vitamin D (Esparham et al., 2015). Although copper is an important trace mineral for angiogenesis and neurotransmission, increased levels of it may be toxic to the nervous system and the liver. Regarding children with ASD, elevated levels of copper are found to induce oxidative damage to their phospholipid membranes. As for vitamin D, regular levels of this vitamin regulate tryptophan metabolism and control serotonin production. Children with ASD have altered levels of these due to having lower levels of vitamin D (Esparham et al., 2015).
Further investigation of the biomarkers and neural correlates associated with ASD remains a pivotal area of research for enabling earlier detection of ASD. Although many questions still arise on ASD, these novel breakthroughs provide the primary steps towards getting there, which is promising and significant for future research.
References
Data and Statistics on Autism Spectrum Disorder. (2025).
Centers for Disease Control and Prevention. https://www.cdc.gov/autism/data-research/index.
html.
Esparham, A. E., Smith, T., Belmont, J. M., Haden, M., Wagner, L. E., Evans, R. G., & Drisko, J. A.
(2015). Nutritional and Metabolic Biomarkers in Autism Spectrum Disorders: An Exploratory
Study. Integrative medicine (Encinitas, Calif.), 14(2), 40–53.
Frye, R. E., Vassall, S., Kaur, G., Lewis, C., Karim, M., & Rossignol, D. (2019). Emerging biomarkers in
autism spectrum disorder: a systematic review. Annals of translational medicine, 7(23), 792.
https://doi.org/10.21037/atm.2019.11.53
Guy, M. W., Richards, J. E., Tonnsen, B. L., & Roberts, J. E. (2018). Neural correlates of face processing
in etiologically-distinct 12-month-old infants at high-risk of autism spectrum disorder.
Developmental cognitive neuroscience, 29, 61–71. https://doi.org/10.1016/j.dcn.2017.03.002.
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