The cause of autism remains a mystery, LinusBio We are plunged into an ongoing heated debate about what role the tangle of environmental and genetic factors may play. Researchers have found a myriad of risk factors associated with autism, including infections during pregnancy, air pollution, and maternal stress. Contamination with metals, which are known to cause neurodevelopmental problems, is also associated with it.
“All of these risk factors work against a genetic risk background,” says Heather Volk, associate professor of mental health at the Johns Hopkins Bloomberg School of Public Health. He added that more researchers are turning their attention to environmental factors.
NBC News spoke to six independent experts from diverse scientific backgrounds about LinusBio’s testing. Many were excited about the potential of the underlying science, but most said caution was warranted and more research was needed. Agreed that the team should replicate.
“There is still much work to be done before we can conclude that this test is a valid measure of risk for autism spectrum disorders,” said Dr. Scott Myers, a neurodevelopmental pediatrician at the Geisinger Autism & Developmental Medicine Institute. I am writing to you by e-mail.
How the test works
The LinusBio test analyzes metabolic history and tells the story of what substances and toxins a child has been exposed to over time, says the company’s co-founder and CEO and professor of environmental medicine and public affairs. One Manish Arora said: Health at the Icahn School of Medicine at Mount Sinai, an academic arm of the Mount Sinai Health System. This technology was developed from research completed at Mount Sinai.
In infants, hair can catch glimpses of exposure at critical developmental moments, such as the third trimester of pregnancy.
This test shoots a laser along the length of the hair and uses its energy to turn it into plasma for analysis. One centimeter (less than half an inch) of hair provides about a month’s worth of exposure data, Arora said.
Just as a tree’s rings tell scientists how it grows each year, hair growth helps researchers understand what was happening in someone’s body at a particular moment. It states that metal metabolism can be revealed in 4- to 6-hour increments.
“It’s like having a security camera that can review four photos a day,” says Baccarelli.
This technology creates a huge amount of data. A machine learning algorithm is trained to look for patterns of metal dysregulation that researchers believe are biomarkers of autism.
“Distinct rhythms for autism can be detected in about 1 cm of hair,” says Arora.
Timing of Autism Diagnosis
Arora and his team hope their technology will help infants, and even newborns, get early interventions for autism sooner than they are now.
“The problem with autism is that it’s diagnosed at the average age of four. By that time, a lot of brain development has already happened,” he said. “We want to be able to intervene early.”
There is still no biologic test for autism spectrum disorder. Rather, children are often diagnosed after parents notice behavioral differences such as avoiding eye contact, language delays, or not pointing fingers. The disorder may also occur with other conditions such as attention-deficit/hyperactivity disorder (ADHD), anxiety, and mood disorders.
Professionals use neurological tests, language assessments, behavioral observations, and other methods to diagnose children. The American Academy of Pediatrics recommends autism screening at 18 and 24 months of age.
According to Annette Estes, director of the University of Washington Autism Center in Seattle, early interventions for autism typically include tutoring by trusted teachers. These programs are delivered as symptoms arise to address specific developmental needs and are often seen as play.
“Babies are little scientists. They’re trying things out and wanting feedback,” she said.
However, little is known about how presymptomatic interventions affect young children at increased risk of autism.
“There are theories about what we do,” Estes said.
Next step, more data
The Food and Drug Administration gave LinusBio’s test a “Breakthrough” designation. This is intended to speed up the regulatory approval process for new technologies when there are no alternatives on the market. The designation does not change the approval criteria, and the company faces regulatory hurdles before its devices are considered for widespread use in the United States.
In a published study, researchers trained and tested the technique by evaluating hair samples of 486 children in three countries: Japan, Sweden, and the United States.
In analyzing 97 hair samples, the algorithm correctly identified cases diagnosed with an autism spectrum disorder with a probability of 96% or more. It correctly identified negative cases about 75% of the time. The tested group included 28 cases of autism, a much higher proportion than the general population.
“This should be repeated with larger sample sizes and larger datasets,” Volk said.
The company, which has raised more than $16 million in venture capital investment, is working on expanded research, collecting samples and data with a group of about 2,000 people.
Because the test’s predictive value depends on the prevalence of the condition in the group being evaluated, the test’s accuracy is reduced in the general population, where autism prevalence is approximately 2%.
This is one reason the LinusBio team sees this tool as merely an aid for clinicians to arrive at a diagnosis.
“A clinician should not decide whether a child has autism based solely on this,” said Arora. “This provides important information, but it is not the only information.”
The test may be most useful in groups at high risk for autism, such as children who miss developmental markers or who have siblings with autism.
Researchers also believe that repeating the test, which analyzes and compares multiple strands of the child’s hair, may improve accuracy.
But from Estes’ perspective, no test or technology can address the biggest and most important barrier for families of children seeking care for autism. Finding a trained clinician who can make a professional diagnosis and building a care team for the child. Many parents are unable to get help when they notice developmental delay.
“Intervention on time is something that most children do not have access to at this time,” Estes said. “We know how to help children. It’s very difficult to access.”
Arora hopes that in the future, this new technology will provide clues about what changes in children’s bodies as autism manifests itself. It could open up new avenues for developing drugs and treatments for the disease, he said.
LinusBio said it plans to apply the approach to other health conditions known to be associated with environmental factors, such as Lou Gehrig’s disease or ALS, stomach disease and certain cancers.
