A blood-based measure could lead to a clinical test that could spot signs of autism in boys just 1 or 2 years old, a new study has found, a finding that could help children with autism get the help they need earlier on.
The study, conducted by an international team led by UC San Diego School of Medicine researchers and published in the current online issue of JAMA Psychiatry, found that certain genetic fingerprints might lead to an earlier method of diagnosing autism in male toddlers.
Researchers were able to identify those biomarkers, or genetic fingerprints, in blood samples from boys with autism as young as 12 months old.
Researchers analyzed two different blood samples with two groups of participants. The first group had 147 toddlers and the second group had 73 toddlers.
"The mean age of autism identification in the United States right now is four to five years so by that point, a lot of brain development opportunities have passed," said Eric Courchesne, Ph.D, professor of neurosciences and director of UCSD's Autism Center of Excellence. "What you really want to do is identify the child at the youngest possible age."
Autism is four times more common in males, researchers said, so the study started with looking at young toddlers because it would be easier to recruit young boys with autism for the study.
Because the causes of autism spectrum disorder (ASD) are complex and can vary, it can be difficult to conclusively diagnose a child before the child turns four.
One parent said an earlier diagnosis in her son could have had a positive impact on his development.
"I thought I knew how to parent boys," said Karen Heumann. "And he came along, and he was wild and he was out of control, and I thought, 'Oh, he's just trying to keep pace with his brothers,' and instead, he's autistic."
Heumann said as soon as her family found out about her son's Asperger's syndrome, which is on the autism spectrum, they were able to get him therapy.
That was when her son was 5 years old. She said learning of the diagnosis earlier would have meant more services for him before he started school.
In the study, researchers looked at blood-based genomic biomarkers that could lead to the development of a clinical test for ASD in boys as young as 1 or 2 years old.
Blood is expected to carry autism-relevant molecular signatures that can be used to detect early signs of autism, said the study's first author, Tiziano Pramparo.
The study found that the genes related to translation and immune/inflammation functions, as well as cell adhesion and cell cycle, were different in boys with ASD and boys without ASD. Genes such as those can have an effect on early brain development in toddlers.
The results of the study may lead researchers to diagnosing autism earlier than current methods. Early diagnosis methods could boost the efficacy of intervention and remedial treatments.
The Clinical Director for the Seaver Autism Center for Research and Treatment at Mount Sinai in New York said the study is important and suggests progress but that results should be viewed cautiously.
“Larger studies and replication of the findings are necessary before these preliminary results can be considered clinically meaningful,” said Alex Kolevzon, MD.
The study was co-authored by Karen Pierce, Cynthia Carter Barnes, Steven Marinero, Clelia Ahrens-Barbeau and Linda Lopez, from the UC San Diego Autism Center of Excellence; Michael V. Lombardo from the University of Cambridge and University of Cyprus; Sarah S. Murray from the Scripps Translational Sciences Institute; and Ronghui Xu from UCSD.
The study, partly funded by the Race for Autism and the National Institute of Mental Health, was published in the March 2015 online issue of JAMA Psychiatry.