Monday, May 1, 2023

The Search for an Earlier Autism Diagnosis

 Written by Bri Galvan


    Throughout your lifetime, have you ever encountered someone who has been diagnosed with autism? With the numbers on the rise, I am sure you have. Among 8-year-olds, one in 54 are diagnosed.1 Autism spectrum disorder, also known as ASD, is a neurological condition that affects development, communication, sensory processing, and interactions with others.1 The exact cause of the development of autism is unknown, although many people have generated their own ideas. Some people believe it is caused by a gene variant, others believe it could be environmental factors such as toxin exposures, or even imbalances in the intestinal microbiome. 

Countless studies have been done to support each of these possible causes. In support of environmental influences, recent research has found an association between ASD and a mother’s exposure to ozone pollution during the third trimester of pregnancy.1 Additionally, it was found that exposure to a specific type of air pollution known as particulate matter during a baby's first year of living can increase the likelihood of developing autism.1  In regards to genes and neurobiological factors, a recent study analyzed the DNA of more than 35,584 people worldwide, including 11,986 autistic individuals. The scientists identified variants in 102 genes linked with an increased probability of developing ASD.1 Additionally, there has been a correlation shown between a decrease in the formation of myelin sheaths via oligodendrocytes, which can possibly disrupt neural communication and harm normal brain development, later leading to autism.1 

It is important to physicians that we can start diagnosing autism earlier on in an infant's life as it can help in the long run. More recent research has been aimed at finding potential biomarkers of autism that will help with diagnosing earlier. A recent study done by Maggie Guy et al. aims to further understand information processing in those at high risk of developing autism, therefore potentially getting closer to identifying a biomarker. The participants in this study included those with siblings with autism spectrum disorder (referred to as ASIBs) and children with fragile X syndrome. This population of children was chosen as approximately a fifth of ASIBs and three out of five children with FXS will develop ASD in their lifetime.2 

This study worked to further understand facial processing in these children as atypical face processing is one of the most frequently observed forms of atypical attention in ASD.2 This was done via cortical source analysis by testing event-related potentials during facial recognition by understanding the N290 response in infants (which is closely linked with face processing). Overall, cortical source analysis of the N290 showed face specialization in groups both at risk and not risk, but mainly because of higher activation of brain regions when shown faces versus being shown toys. Although, infants with FXS displayed higher levels of activation to faces across all areas analyzed, while ASIBs show more muted levels of activation.2 This finding helped the field dig a little bit closer to identifying more specific causes of ASD but more research in this area is important to promoting increased understanding of cortical development associated with social information processing in neurodevelopmental disorders, including FXS and ASD.2 Hopefully one day there will be successful identification of a biomarker to indicate autism diagnosis earlier on. 


Sources

  1. Drake, Kimberly. (2021, April 16th). What is the latest research on autism?. Medical News Today. (Autism research: Recent findings (medicalnewstoday.com))

  2. Guy, M.W.; Richards, J.E.; Roberts, J.E. Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism. Brain Sci. 2022, 12, 1129. https://doi.org/10.3390/brainsci12091129

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