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Testing for Autism and the Implications

Last updated on November 26, 2023

If a test emerges that can screen for some forms of autism with 80 percent or better accuracy, parents will seek out the test.

I expect such screening to be possible within the next decade. We should consider the implications of accurate tests for forms autism, especially if medical researchers demonstrate testing is possible during pregnancy. As with Down Syndrome, this raises serious ethical questions we need to be asking now.

Autism: Scientists take ‘first steps’ towards biological test
By Alex Therrien Health reporter, BBC News

Scientists have taken the first steps towards what they say could become a new blood and urine test for autism.

Their study tested children with and without the condition and found higher levels of protein damage in those with the disorder. The researchers said the tests could lead ultimately to the earlier detection of the condition, which can be difficult to diagnose.

Autism seems to effect overall physical health, something reflected in the proteins found within blood and urine samples. For unknown reasons, autistics seem to produce flawed protein chains, leading to immunity challenges and frequent illness. Poor protein synthesis is not limited to autistics, but is common among autistics. That’s an important distinction: flawed protein chains could point to any number of genetic conditions, including those expressed neurologically such as autism or attention deficits.

So, when the study found autistics did have protein flaws while non-autistics did not, this is not necessarily a conclusive marker for autism. The study clearly suggests more research should be conducted because the correlation is significant.

For this new study, published in the Molecular Autism journal, researchers looked for chemical differences in the blood and urine of 38 autistic children and 31 children without the condition, all aged between five and 12. In those with autism they found higher levels of protein damage – particularly in the blood plasma – which they said were associated with ill health.

Dr Naila Rabbani, from the University of Warwick, who led the study, told the BBC the tests could ultimately be used by doctors to diagnose autism earlier in childhood by detecting these markers.

“Then the next step will be to validate in a larger cohort. Then the tests will be ready for screening.” Dr Rabbani added that she hoped the tests could also eventually reveal some of the factors that cause autism and improve its diagnosis.

I’m sick frequently, more severely and for longer periods than others in our household. This could suggest that I do have genetic complications, beyond the physical challenges that doctors theorize contribute to autistic traits. In other words, being frequently sick might indicated genetic autism, not environmental causes (meaning external, in science, not “the environment”).

Remember, there are many autisms according to research, including genetic variations and possible environmental variations. The diagnoses offered by healthcare professionals are based on traits, not genetic screening. The Diagnostic and Statistical Manual used by psychiatrists uses checklists of behaviors to diagnose autism because the causes seem varied and, with a few exceptions, impossible to screen for using lab tests.

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 study also only looked at a small group of people.

“The best way to diagnose autism is still through clinical interview and observation.”

My concern is that parents will embrace a test that does indicate someone has health issues with too much certainty that the underlying condition is autism. What if the weak immune system and flawed protein synthesis are from another medical condition? Until a tests can narrowly identify autism, the test should only be used to help treat other health needs.

Dr Max Davie, from the Royal College of Paediatrics and Child Health, said it was a promising area of research but it was a “very long way indeed from a test for autism.”

“While we applaud the arrival of this interesting area of research, it is important that it is not adopted with too much enthusiasm – if applied to a large population it will produce large numbers of ‘false positives’, causing huge worry and potential harm to children and families.”

Once we can test for autism, will that be a good thing? I believe it will be for those trying to eliminate other concerns. Screening also enables early interventions to help young children.

I support discovering the variations of autism and autistic traits. I fear, however, screening will be abused.

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