Researchers Create Biomarker that May Help Identify Children Developing Autism

A Duquesne research team has created accurate biomarker measurements that may help identify children who are developing autism.

The biomarker readings, which relate chemical toxin exposure to behavior in children with autism, allow doctors to medically assess the trending of a child and enable early intervention in the child’s care to improve the patient’s health in many cases.

“One of the issues was that doctors couldn’t treat autism without a diagnosis, but by that time brain damage had already occurred,” said Dr. Howard “Skip” Kingston, professor of chemistry and biochemistry at Duquesne’s Bayer School of Natural and Environmental Sciences. “We may be able to intervene and treat patients before brain pathology worsens.”

The Duquesne research team is in the process of validating 21 biomarkers that help identify neurodevelopmental, neuropsychiatric, and neurodegenerative diseases.

Working with Dr. Scott Faber, a scholar in residence in the chemistry and biochemistry department and a medical doctor who specializes in Developmental Pediatrics and autism, the team conducted a variety of studies during the past 13 years, many focused on the chemical and heavy metal toxin levels and immune systems of children with autism.

“More than a decade ago, it was believed that autism was a solely genetic, psychiatric disorder,” Kingston said. “Since then, our research team, along with others in this field, has found that autism is a physical disease and as a result, autism is covered by health insurance in Pennsylvania and many other states.”

In a study published in Analytical Chemistry, the researchers created a way to accurately measure glutathione in two states (reduced and oxidized) simultaneously.  In a study published in Free Radical Biology and Medicine, children with autism had lower levels of reduced/oxidized glutathione ratios in their blood, making them more susceptible to neurological damage from exposure to toxins in their daily lives.

Another study from the research team, published in Nature Scientific Reports, demonstrated for the first time that accumulated toxins known as persistent organic pollutants in the blood of children with autism places them higher in behavioral severity on the Autism Diagnostic Observation Schedule.

Today, the Duquesne team is developing biomarker testing methods where a mother can draw blood from a finger prick and place it on an absorbent paper in a blood card, which is then measured by a mass spectrometry detector to determine levels of glutathione and other biomarkers. From the instrument’s readings, researchers may be able to identify children at risk of developing autism.  The test results can then be used to guide medical professionals in their therapeutic intervention regimens early in the disease progression. Applied Isotope Technologies and QualeVita Diagnostics are two companies preparing to make these biomarkers tests commercially available.

“This is the future of medicine,” said Kingston, noting that several universities and medical schools are following Duquesne’s lead by acquiring extraction and mass spectrometry instruments to conduct biomarker testing following the scientific papers published by Duquesne University’s team.

Currently in the United States, one in 59 children have Autism Spectrum Disorder, which is up from one in 150 children in 2000, according to the U.S. Centers for Disease Control and Prevention.