Innovative test diagnoses autism in a single hair with 81% accuracy

Scientists have developed a universal test for autism that they say can spot risk markers in a single hair, a breakthrough that could help doctors spot it in young children before they miss developmental milestones.

The test – which is still in an early stage of development – ​​is a diagnostic aid intended to help doctors diagnose autism, but should not be relied upon alone. Because hair records a history of exposure to metals and other substances, the technology uses an algorithm to analyze it looking for patterns of specific metals that researchers say are associated with autism.

New York-based company LinusBio’s test is the first to analyze this kind of exposure history over time. According to a study published in the Journal of Clinical Medicine, the test accurately predicted autism about 81% of the time.

“The problem with autism is that it’s diagnosed at an average age of four. By then, the brain is quite developed. We want to enable early intervention,” LinusBio co-founder and CEO Manis Arora told NBC News.

Researchers hope the technology could help children receive early intervention treatments sooner and lead to the development of new drugs or treatment models for young children.

The causes of autism remain mysterious. Researchers have discovered countless risk factors associated with autism, including infections during pregnancy, air pollution, and maternal stress. Metal pollution, which is known to cause neurodevelopmental problems, has also been linked to it.

How the test works

In the study, the researchers trained and tested their technology by evaluating hair samples from 486 children in Japan, Sweden and the United States. In an analysis of 97 hair samples, the algorithm correctly identified cases diagnosed with autism spectrum disorder more than 96% of the time. The group examined included 28 cases of autism, a rate much higher than in a general population.

The LinusBio test analyzes metabolic history and then reveals what substances or toxins the child has been exposed to over time, according to Arora, who is also a professor of environmental medicine and public health at the Icahn School of Medicine at Mount Sinai.

The test passes a laser along a hair, using its energy to turn it into a plasma for analysis. One centimeter of hair records about a month’s worth of exposure data, according to Arora. The test checks for substances linked to autism, including metals such as lead, cadmium, arsenic, zinc and copper among others. LinusBio says its test can reveal mineral metabolism in 4-6 hours.

The results are then fed into a program that looks for patterns that suggest autism. This technique generates huge amounts of data. The scientists then “train” an algorithm to look for patterns that the researchers believe are biomarkers of autism.

Arora and his team hope their technology could help young children, even newborns, receive early interventions for autism earlier than they do now.

“The problem with autism is that it’s diagnosed at an average age of 4 years. By then, the brain has developed significantly,” he emphasized. “We want to enable early intervention,” he added.

There is still no biological test for autism spectrum disorder. Instead, children are often diagnosed after parents notice behavioral differences, such as avoiding eye contact or delayed speech and language development. However, these behaviors vary widely, and autism can co-occur with other conditions, such as attention-deficit/hyperactivity disorder (ADHD), anxiety and mood disorders.

Specialists use neurological tests, language assessments, behavioral observations and other methods to diagnose a child. The American Academy of Pediatrics recommends autism screenings at 18 and 24 months.

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