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What Blood Test Can Tell You About Autism?

My daughter was about six years when I started to notice her learning difficulty. I didn’t know what to do. She was always looking depressed and showed signs of anxiety. As my first issue, I had no idea of what to do. I also didn't have relatives or friends that were experienced with children that could help.

At seven, it didn’t get better. It broke my heart looking at my daughter looking sometimes ‘lifeless’. I decided to seek professional help. I booked an appointment with a pediatrician. He was a lovely young man that smiled a lot. Gazing at his milk teeth helped me to keep my racing heart in check. My mind was blank and I feared the doctor would tell me that my daughter had a few days to live. 

He spent ample time with my daughter examining different parameters. Then he broke the news to me, “Your daughter is Autistic”. Those words would change my life forever. I remember my heart sinking. I was overwhelmed by the information because I had not prepared for it. I remember going home and doing lots of research to know what it takes to care for a child with autism. I recall how hard I have been on her for failing to learn things I believe every girl of her age should learn. I believe I would have felt different if I knew about this earlier, if possible, within the first six months of her birth. It would have changed the way I cared for her. 

What I Learned About Autism?

As I studied to learn more about autism and how to better care for my daughter, I found a report by the Center for Disease Control and Prevention (CDC) which said that likely 1 in 68 children have Autism Spectrum Disorder (ASD). ASD is a condition that manifests in social interaction, behavior, and cognition. The delayed manifestation of symptoms often makes early diagnosis difficult. 

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Likely 1 in 68 children have Autism Spectrum Disorder (ASD)

It is possible to diagnose autism between 18 and 24 months but most children are diagnosed after 4 years. This is basically because the currently available diagnostic procedure depends solely on clinical observation. The problem is that some children will not show signs until they are older and the diagnostic procedure takes long hours. 

While genetic causes are linked to around a third of the reported ASD cases, the remaining two-thirds are believed to arise from a number of factors ranging from the rare genetic variant, mutations, and a combination of environmental factors.

There is also a report that 1 in 100 Britons has autism and that it is more diagnosed in boys than girls. Currently, parents have to wait until their children are between 2 and 4 years before taking them to specialists for further assessment. What if it was possible to spot autism earlier, will it make any difference for the parents or the children?

Using A Blood Test To Diagnose Autism

From what I found out, the use of a blood test to detect autism is not new however, we might just be getting closer to making the technology a reality. As early as 2012, Boston Children’s Hospital researchers were analyzing different gene expressions between ASD children and those lacking the condition. The blood-based test that they developed was able to detect autism with a good degree of accuracy especially among boys. 

There are more improved studies on the possibility of using a blood test to determine autism at a younger age. One of such studies was the one reported by the Independent in February 2018. University of Warwick researchers linked blood plasma protein damage to ASD. Children with ASD tend to have a higher level of advanced glycation end products (AGEs) and dityrosine (DT), an oxidation marker. 

The Warwick researchers headed by Dr. Naila Rabbani collaborated with another team from the University of Bologna in Italy. The team analyzed blood and urine samples of 38 children diagnosed with ASD and 31 others who were negative of the condition (controls). 

Another team of researchers led by a professor at the Rensselaer Polytechnic Institute, Juergen Hahn, repeated the experiment using a wider test group and their report which was published recently in the Bioengineering & Translational Medicine journal was not any different.  

Hahn and his team examined the transsulfuration pathway and the methionine cycle which is the two pathways strongly linked to ASD. Hahn and his team looked at 24 metabolites gotten from 149 individuals that were previously diagnosed of ASD. The use of metabolites was able to ASD with an accuracy of 96.1 percent. 

Benefits Of Earlier Diagnosis And The Limitations Of The Research

The idea of earlier diagnosis of autism gets me excited and I bet many mothers caring for autistic children should be too. It will be a huge relief if parents won’t have to wait for many years to know what is wrong with their children. I believe if autism is identified earlier, it will give the children the children the opportunity to receive appropriate treatment including behavioral therapy earlier which could as well lead to a higher IQ and improved language. According to Dr. Rabbani,

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if autism is identified earlier, it will give the children the children the opportunity to receive appropriate treatment.

“With further testing, we may reveal specific plasma and urinary profiles or ‘fingerprints' of compounds with damaging modifications.”

My problem with the majority of the studies done so far on the possibility of using a blood test to determine autism is that they make use of older children averaging 5 – 8 years. However, there is no data that suggests that infants and very young children between 1 and 2 years will have the same or similar metabolic patterns like the ones observed in older children.

A professor of the University of California Davis Mind Institute, David Amaral, also argued that it would be unlikely that a single market can spot all autism. It may be important to alter metabolic profiles to arrive at a sizeable subset. 

One promise I find with the new researches is the possibility of finding the new causes of ASD which will also change the way the condition is managed or treated.