Researchers from Columbia University’s Mailman School of Public Health and the Norwegian Institute of Public Health made a groundbreaking discovery when it comes to Autism Spectrum Disorder (ASD). In a study recently published in Molecular Psychiatry, the team found links between chemical components in maternal blood and cord blood with a future diagnosis of ASD in children. They used chromatography/mass spectrometry-based metabolomics to measure levels of various chemical compounds and machine learning to study the predictive value of these compounds.
The study revealed disrupted levels of 12 compounds in maternal blood in girls with ASD, 3 compounds in maternal blood in boys with ASD, 8 compounds in cord blood in girls with ASD, and 12 compounds in cord blood in boys with ASD. The findings offer insights into biological mechanisms that can lead to ASD and could pave the way for early diagnosis and therapy. The compounds associated with ASD involved inflammation, membrane integrity disruption, neurotransmission impairment and neurotoxicity.
The study also found differences in associated chemical compounds between boys and girls which may help explain why there is higher cognitive impairment in girls with ASD. The research built on a previous study by the same team in 2022 which found a link between groups of inflammation-related molecules and ASD.
Columbia Mailman School of Public Health researcher Xiaoyu (Jason) Che, explained how the findings from this study could further the development of a diagnostic test for ASD: “Our latest findings add to evidence that chemical compounds can be harnessed as an early biomarker for autism spectrum disorder.”
Accurate and timely diagnosis of ASD is of great importance as interventions can be most effective if implemented early. However, the average age of diagnosis is four to five years. For these reasons, the team is incredibly hopeful that the chemical compounds they have identified could be used to create a test that detects ASD in infants and young children.
The study used data collected through the Norwegian Mother, Father, and Child Cohort Study which involves more than 114,000 parents and their offspring. Cohort director Dr. Camilla Stoltenberg from the Norwegian Institute of Public Health commented on how unique this data is and how it can provide research opportunities for understanding ASD.
W. Ian Lipkin, the senior author of the study and the director of the Center for Infection and Immunity (CII) at the Columbia University Mailman School of Public Health, also commented on how the findings from the study could lead to better care for ASD patients: “Our findings may lead to tests for early diagnosis that improve outcomes.”
The research conducted by the team from Columbia University’s Mailman School of Public Health and the Norwegian Institute of Public Health has opened up opportunities for a breakthrough in diagnosing ASD. The identified compounds hint that early diagnosis and intervention could become a reality in the near future.
