A new kind of brain scan may be able to predict when a baby as young as 6 months old will develop autism, researchers said Wednesday.
The approach is not likely to be useful for all kids, but in children considered at high risk because an older sibling has autism, the scans correctly chose nine out of 11 children who later were diagnosed with autism out of a group of 59 high-risk kids.
“If future studies confirm these results, detecting brain differences may enable physicians to diagnose and treat autism earlier than they do today,” said Dr. Diana Bianchi, director of the National Institute of Child Health and Human Development, which helped fund the study.
The team has been trying several different types of scans to find early evidence of autism, a developmental disorder that starts before birth and that’s marked by changes in how the brain works.
The same team, with members at the University of North Carolina and Washington University in St. Louis, has used magnetic resonance imaging (MRI) to find structural changes in the brains of babies born with autism, and used another type of MRI, called functional connectivity MRI, to see if they might find differences in the way brain regions communicate in infancy.
They did. Reporting in the journal Science Translational Medicine, the researchers said they found various differences that allowed them to correctly predict nine of the 11 6-month-old infants who were later diagnosed with autism.
Christa Robaina, a mom from Charlotte whose 6-year-old son has autism, said an early heads up can make all the difference for worried parents.
"This been a blessing for us and just calming our fears," said Robaina, whose infant daughter took part in some of the team’s research.
“We know what it’s like as a family to be in the abyss of not knowing who your enemy is and what you are fighting.”
Robaina said her family spent thousands of dollars in co-pays to have MRIs and genetic tests for their son. He was not medically diagnosed with autism until he was 5, but she had her suspicions much earlier.
He was born prematurely and was "a little bit behind" on meeting developmental milestones, she said. "We were told this was typical of preemies," Robaina told NBC News. "At 12 months, I had that mother’s instinct to know something was not right."
But as a first-time mom, she did not completely trust those instincts.
Later on, she became more worried. "He didn’t respond to his name," she said. Hearing tests showed that wasn’t the problem. "He would sit and play in a room all by himself unattended and would have no problem with that."
Difficulty in interacting socially with people is one of the characteristic symptoms of autism, a so-called "spectrum disorder" because people with the condition show a range of symptoms, from mild social awkwardness to profoundly disabling behaviors.
Robaina was worried about her daughters, now aged 2 and 4, so she enrolled the youngest in the study at the University of North Carolina.
“You have the opportunity to find out if something is off,” she said. So far, the two girls have not been diagnosed with autism.
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Psychiatrist Dr. Joseph Piven, of UNC-Chapel Hill, said it’s particularly hard to diagnose autism in infants.
“They don’t look like they have autism in the first year,” he said. “Social deficits emerge over the first two years of life, and [we] have not been able to move the needle down on early detection.”
So his team’s been trying to find other ways to spot autism early. They’ve been putting sleeping babies into MRI scanners to see what’s different about their brains. They tested younger sibling of kids already diagnosed with autism, because those sibling are known to be at higher risk.
"Infants with high familial risk for autism spectrum disorder begin life with about a 20 percent chance of developing autism spectrum disorder compared to about 1.5 percent in infants with low or unknown risk,” they wrote in their report.
Autism is diagnosed in about 1 in 68 U.S. kids, according to the Centers for Disease Control and Prevention. There is no single known cause, although it’s clear autism starts well before birth and has strong genetic components.
Because it is a developmental disorder, the symptoms may make it seem as if a child is regressing, making parents mistakenly think it’s something that happens to children as toddlers that causes autism. Brain studies like Piven’s can be reassuring to parents.
“The defining behavioral characteristics of autism generally unfold during the second year of life, typically showing consolidation of the full behavioral syndrome by about 24 months of age or later,” Piven and colleagues wrote.
“Behavioral differences in autism spectrum disorder have been observed as early as 6 months of age in characteristics such as gross motor ability, visual reception, and patterns of eye tracking; however, these associated characteristics have not been able to predict which children will later receive a diagnosis.”
Brain imaging may be the best way to give parents an early warning. Some studies suggest that working with parents of infants may help them alter the course of their development.
“You can maybe intervene and change the patterns,” said UNC researcher Robert Emerson. “We have some idea that the brain is more malleable in infants.”
Emerson and Piven noted, however, that it’s not clear whether early interventions can prevent autism — but no one will be able to study that unless and until there is a reliable way to detect the infants who are most at risk.
“I think as a mom you probably always have mommy guilt," said Robaina. "I look back at things I did in my pregnancy and things that I ate."
But an early warning could help parents prepare.
"You have the opportunity to go find out if something is off," she said. "A lot of moms think it’s just fine. Everyone tells you they’ll walk, they’ll talk and then they don’t — and you’ve passed a window where you can have done something."
Robaina said she's been trying dietary changes, physical and occupational therapy and other therapeutic approaches with success in her children.
Emerson said it’s hard to explain the differences in the brains of the babies with autism — it took a complicated computer algorithm to make the predictions. Some areas of connection from one part of the brain were more active in the babies with autism, and some were less active.
"No one has done this kind of study in 6-month-olds before, and so it needs to be replicated. We hope to conduct a larger study soon with different study participants," Emerson added.
And it will never be something for every kid to try — MRIs can cost hundreds or thousands of dollars.
"It is not really an efficient strategy to have every kid scanned at 6 months of age to see if they have autism," Piven said.