Posted: May 17, 2018
A groundbreaking study is being done at Boston Children's Hospital that researchers say could potentially predict whether a child as young as 3 months old is at-risk for developing autism.
Right now, most children can't receive a reliable diagnosis until they are at least 1 year old.
Chase Minicucci and his mother, Hillary Steele Minicucci, regularly go to Boston Children’s to track his development. Chase seems to be a typically developing toddler, and he’s learning to point and use words to express his needs.
However, Chase has been identified as at risk because his older brother, who is 7, has autism.
“We did the testing, and one day after his 4th birthday … the doctor said, ‘so your son has autism,’” said Hillary Steele Minicucci.
Hillary and her husband also have a 6-year-old daughter who does not have autism, but autism is more prevalent in boys.
Research shows one in five children whose siblings have autism will also be on the spectrum. Hillary spent the first year of Chase's life watching his behavior closely and worrying.
“I was literally making myself crazy over it,” she said.
Hillary was able to find a spot for Chase in a study at Boston Children's Cognitive Neuroscience Lab, involving 99 siblings of children with autism.
Infants as young as 3 months old and toddlers up to 36 months old spend only a few minutes wearing a cap with more than 100 sensors. While wearing it, they watch a T.V. showing cartoons, which is also an eye tracker.
Boston Children's Cognitive Neuroscience Lab Director Dr. Charles Nelson said by studying their EEG signals, the electrical activity in the brain, they can predict which infants are likely to develop autism.
“What we've seen is at 3 months of age, we've seen patterns of brain activity that basically predict who, three years later, will develop autism,” said Nelson.
One of the big unknowns is when does autism develop, and Nelson said the study is shining light on whether it happens before or after birth.
“It's very unlikely that brain development was perfectly normal until birth and then something happened. The fact that we see it so early, just at 3 months, makes me think that it started before birth. But what derailed brain development, we don't know,” he said.
A fascinating story: researchers @BostonChildrens are potentially predicting whether infants as young as 3 months old will develop Autism. How it works, & how they’re hoping it will someday lead to preventing Autism, on @boston25 at 6. pic.twitter.com/nHpglclUvV— Heather Hegedus (@HeatherHegedus) May 16, 2018
Dr. Nelson stressed the medical community is not at the point yet where a 3-month-old could receive a diagnosis, but the child could be flagged. The next step is developing early intervention strategies for that age group.
As for Chase, his mother said that right now, he doesn't seem to be exhibiting some of the warning signs, which has given her some much-needed reassurance.
“I can start to enjoy my baby now,” she said.
The study is ongoing and open to three groups of children:
Because the EEG caps are relatively inexpensive, Nelson hopes someday soon every local pediatrician's office could have one and all infants could be identified within a critical window of time.
A newly developed blood and urine test could potentially detect autism in young children.
That’s according to new research from scientists in the United Kingdom and Italy who conducted tests searching for damage to proteins previously known to be higher in children with autism spectrum disorders.
The study, published this week in the academic journal Molecular Autism, tested 38 children between 5-12 years old with autism and 31 without, looking for differences in samples of urine and blood between the two groups.
The results revealed that children with autism had greater protein damage when examining plasma in their blood, which causes higher levels of an oxidation marker called dityrosine as well as sugar-modified compounds known as advanced glycation end-products.
"We have found that the power of measuring damaged proteins to the brain may be a cause for a development of autism," Dr. Paul Thornalley, professor of systems biology at the University of Warwick and one of the study’s lead researchers, explained to CNN.
According to Thornalley, previous research has also shown a connection between autism and proteins that were not damaged, the reverse of this study.
"Our discovery could lead to earlier diagnosis and intervention. We hope the tests will also reveal new causative factors," Dr. Naila Rabbani, another lead researcher from the University of Warwick, told The Guardian.
"With further testing we may reveal specific plasma and urinary profiles – or 'fingerprints' – of compounds with damaging modifications. This may help us improve the diagnosis of ASD and point the way to new causes of ASD,” she said.
While the new results appear promising, some researchers have expressed caution about the study’s small sample size and the study’s lack of a concrete diagnosis plan.
"This study may give us clues about why autistic people are different but it does not provide a new method for diagnosis. It is far too early for that," Dr. James Cusack, director of science at the UK autism research charity Autistica, told the BBC.
"We don't know whether this technique can tell the difference between autism, ADHD, anxiety or other similar conditions. The study also only looked at a small group of people," he pointed out. "The best way to diagnose autism is still through clinical interview and observation."
But despite the criticism, the scientists behind the research are calling it a "first step" toward developing a simple test. They aim to move forward with further research, performing the tests on a larger group including younger children.
"We have the method, we have everything. All we need to do is repeat it," Rabbani said. "I would really like to go forward with younger children, maybe two years, or even one year old. Then the next step will be to validate in a larger cohort. Then the tests will be ready for screening."
More than 3.5 million people in the U.S. currently live with autism spectrum disorders, according to statistics from the Autism Society. The development disorder, which mainly affects social interaction and leads to behavioral problems, is estimated to have genetic causes in 30 percent of cases. The other 70 percent of autism cases are believed to be caused by mutations of genetics and environmental factors combined.
Although many individuals with autism go on to live normal productive lives, 35 percent of young adults with the disorder are unable to work jobs or pursue higher education after high school.
Doctors currently rely on a series of behavioral tests to diagnose the disorder. These can take a great deal of time and are not always accurate. If a blood or urine test could provide a faster and more definitive diagnosis, it would go a long way to ensure young children received the treatment and resources they need earlier on.
However, although experts see the new research as promising, they are still cautioning that such a test is still a long way from being viable.
"This is a promising area; however, this is a very long way indeed from a 'test for autism,' " Dr. Max Davie, spokesman for the Royal College of Paediatrics and Child Health, said. "It is important that it is not adopted with too much enthusiasm."
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