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Finally, There May Be a Blood Test for Autism

Timothy Boyer Ph.D.'s picture
New blood test shows promise in diagnosing ASD

Are you concerned that your child might be autistic and want to know right away? Here is the latest in autism research that could be helpful in answering your questions including a possible blood test for Autism.


Health experts are in agreement that the sooner you and your pediatrician know whether your child is autistic, the better are their chances of receiving the help they need to aid their social and mental development. Unfortunately, however, diagnosing autism spectrum disorder (ASD) can be difficult, and is primarily done by observing a child's behavior and development to make a diagnosis.

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A diagnosis of ASD typically comes from two types of evaluation:

1. Developmental Screening where during regular well-child doctor visits a child's basic learning skills are assessed during which the pediatrician may ask the parent some questions or talk and play with the child during an exam to see how the child speaks, behaves, and moves. A delay in any of these areas could be a sign of a problem.

2. Comprehensive Diagnostic Evaluation where a more thorough review is made looking at the child's behavior and development, and further questioning the parents closely in what they've observed in their child. If autism is suspected, the child may also undergo hearing and vision screening, neurological testing and genetic testing--usually through specialists who deal with ASD.

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Sometimes ASD can be detected at 18 months or younger, but most children do not receive a confirmed diagnosis until he or she is much older--meaning a delay in treatment that could be helpful.

Until recently, this seemed to the only way to detect ASD in a child. However, a new study indicates that screening even the youngest of children for ASD may be possible through routine blood and urine sampling with a specialized test that looks for signs of protein damage in the cells.

The new study published in the journal Molecular Autism reports that 38 children with autism between the ages of five and twelve were given a blood and urine test to compare chemical changes in protein content against that found in similarly aged children without autism.

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What the data showed was that the children with autism had higher levels of protein damage in the blood plasma than did the children without autism--with the finding that some of the protein damage is associated with neural development and functioning. According to the article, statistical analysis of the data indicates a strong diagnostic performance for the blood and urine tests in discriminating between ASD and healthy controls, which led the researchers to propose that they may have found a true blood test for screening children for diagnosing autism.

Furthermore, if the study proves to be true, this information could also help elucidate just exactly what are the causes of autism--a mystery that has been speculated on, but never solved by researchers.

However, according to a BBC News report on the study's results, other researchers and experts on ASD state that the study is too small and their conclusion premature in making such claims. One problem is that it could lead to false positives which would be harmful to both parents and their children:

"Dr. James Cusack, director of science at the UK autism research charity Autistica, said: '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.

'We don't know whether this technique can tell the difference between autism, ADHD, anxiety or other similar conditions.'"

The BBC reports that the researchers that authored the paper are working on replicating the study with a larger population of test participants that will also include children of younger ages with and without ASD to investigate their findings more thoroughly before the possibility of screening is initiated.

For more info on diagnosing ASD, here are The Top Ten Signs of Autism You Need to Watch for in Your Infant.


Molecular Autism: Brain, Cognition and Behavior 2018 9:3 "Advanced glycation end products, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis" Attia Anwar et al.

BBC NEWS "Autism: Scientists take 'first steps' towards biological test"

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