Experimental blood test detects 96% of autism cases, could speed diagnosis

March 17, 2017

An experimental blood test is said to detect autism in more than 96% of cases across a broad spectrum of patients, offering the potential to diagnose the condition earlier, according to a study recently released by its developers.

The findings are the latest effort to develop a blood test for autism spectrum disorder, which is estimated to affect about 1 in 68 babies. The cause remains a mystery although it has been shown that childhood vaccines are not responsible.

The hope for such tests, if proven accurate, is that they could reassure parents with autism fears as well as possibly aid in the development of treatments, co-author to the study, Dr.  Juergen Hahn of Rensselaer Polytechnic Institute in New York, US.

They could also speed the age at diagnosis. Autism encompasses a wide spectrum of disorders, ranging from profound inability to communicate and mental retardation to relatively mild symptoms, as in Asperger’s Syndrome.

Doctors typically diagnose children by observing behaviors associated with the disorder, such as repetitive behaviors or social avoidance. Most children are not diagnosed until around age 4, although some skilled clinicians can pick it up earlier.

Hahn and colleagues measured levels of 24 proteins that have been linked to autism and found five that, in the right combination, seemed most predictive of the condition, which affects about 1.5% of children and can vary widely in severity and how it manifests.

The researchers derived the combination by testing 83 children aged 3 to 10 who had been diagnosed with autism through conventional means. While the combination was present in 97.6%, it was absent in 96.1% of 76 normal children.

Dr. Max Wiznitzer of the University Hospitals Cleveland Medical Center, who was not involved in the research, called the finding “interesting, but not earth-shattering,” saying that it needs to be tested by many more at-risk children.

He said it is still unknown if the marker is specific to autism or whether it’s a marker for any chronic illness of any kind. He also noted that the research offers no evidence that the chemical combination being blamed for autism “will be there for infants and toddlers.”

Wiznitzer said the researchers still quite a way to go before they can show it has any meaning.

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Category: Education, Features

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