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Biomarkers in Blood May Help Detect Autism Earlier

Researchers say they've identified substances produced by metabolic activity in children's blood that can accurately determine if a child has autism.

biomarkers to help detect autism

Researchers say they have uncovered a relatively easy and accurate way to tell early on whether a young child has autism.

The researchers say metabolic biomarkers in the blood can help medical personnel assess whether a child is on the autism spectrum.

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They say this early detection method could allow for earlier diagnosis of autism and perhaps better treatment of the condition.

Their findings were published today in the journal PLOS Computational Biology.

Read more: Get the facts on autism »

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What biomarkers reveal

In their study, scientists used blood sample data collected at Arkansas Children’s Hospital.

They looked at the samples from 83 children diagnosed with autism and 76 children classified as neurotypical.

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All were between the ages of 3 and 10.

The researchers said they noticed concentrations of specific substances formed by metabolic processes in the blood of children with autism.

They said their method correctly classified 97 percent of the children with autism and 96 percent of the neurotypical children.

We are not aware of any other method, using any type of biomarker, that can do this.
Juergen Hahn, Rensselaer Polytechnic Institute

“The method presented in this work is the only one of its kind that can classify an individual as being on the autism spectrum or as being neurotypical,” Juergen Hahn, PhD, a study author, and professor of biomedical engineering at Rensselaer Polytechnic Institute in New York, said in a press statement. “We are not aware of any other method, using any type of biomarker, that can do this, much less with the degree of accuracy that we see in our work.”

Dr. Eugene Arnold, a professor emeritus in the department of psychiatry and behavioral health at the Wexner Medical Center at The Ohio State University, agreed the research findings are important.

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He said they could be used to help with diagnosis, treatment, and even prevention in autism.

“It’s a good advancement in the field,” he told Healthline.

Read more: Does an ADHD diagnosis camouflage autism? »

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Why the findings are important

About 1 in 68 children in the United States (about 1.5 percent) have autism, according to the Centers for Disease Control and Prevention (CDC).

The exact cause of the condition is still unknown.

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The study authors said previous research has revealed certain differences in metabolic processes in children with autism.

However, they said, medical professionals have struggled to transfer this knowledge into diagnostic tools.

Hahn said further research is needed, but his team is hopeful the early biomarker diagnosis could lead to treatments that would alter the metabolic processes and reduce autism symptoms.

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Arnold said if that research actually pans out, it could be an important development.

He said there are theories that autism can be affected by both genes and a child’s environment.

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A child who is born with DNA that makes them more likely to develop autism can have those genes activated by outside sources, including their diet or their mother’s diet.

He noted that previous research has indicated that a healthy amount of folic acid, for example, can help reduce the possibility of birth defects involving the brain and the spine.

Arnold said that it’s uncertain whether vaccines could fall into the category of an outside influence that can trigger autism-related genes.

“I’m not sure it’s completely relevant,” he said. “There’s not good evidence that vaccines cause autism in general.”

Arnold noted if a child is diagnosed early with autism, then perhaps a change in diet or other factors could help alleviate symptoms.

He did caution that the 97 percent accuracy rate should be improved with this diagnostic method. He said that even a high accuracy rate when dealing with only 1.5 percent of a population can lead to a tripling of mistaken diagnoses.

“We need to be careful that there isn’t a lot of false positives,” he said.

Read more: Brain chemical doesn’t do its job in people with autism »

Early detection from friends, family

The importance of detecting autism early is the center of another recent study.

Researchers say they discovered that family members and friends who have consistent contact with a child can alert parents to the possibility of autistic behavior.

In their study, the researchers conducted an online survey of 477 parents of children with autism. They also did a follow-up survey of 196 friends and family members referred by the parents.

In the surveys, 25 percent of parents said that other individuals indicated their child might have a serious condition before they suspected it.

In addition, more than 50 percent of the friends and family members reported they suspected a child had a serious condition before parents noticed.

Many parents avoid seeking help to find a diagnosis for their child, even though they sense something might be wrong.
Nachum Sicherman, Columbia Business School

Of those, half of the friends and family told parents of their concerns while the other half didn’t, or only hinted at their suspicions.

The researchers said the individuals who most frequently noticed the children’s condition were grandmothers and teachers.

In those instances, children were diagnosed with autism as many as five months earlier than children whose parents weren’t notified by friends or family.

In addition, children with older siblings were diagnosed as many as 10 months earlier than children without siblings.

The researchers said an earlier diagnosis can help improve treatment for children with autism.

“Many parents avoid seeking help to find a diagnosis for their child, even though they sense something might be wrong,” said Nachum Sicherman, a study co-author, and professor of business at Columbia Business School, in a press release. “They often ignore signs of a larger problem and look the other way, making the role of close family members and friends vital to accelerating diagnosis and helping a child’s condition.”

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