New Blood Test for Autism Seems to be On the Way From Dr. Manny

On June 9, we commented on a scientific study that proved that autism in children can be caused by a random genetic mutation that could occur at any one of hundreds of different sites in the human genome. As I told you in that story, I believe the science because of the significant role that genetics often play in our everyday lives.

I have also previously written about my strong support for early intervention – essentially, how important it is that early diagnosis be made and how early intervention can make a difference in altering the maturity in some of the children with autism spectrum disorders.

Despite the countless studies that have been done on autism and it's dramatically growing numbers, there are still many people who don't believe in the reality of the autism spectrum. Nevertheless, for those parents like me that are seeking answers, there is a need to always keep an eye out for new studies and solutions.

And that brings me to this latest report, which is the product of ongoing research being conducted in Rhode Island at Bradley Hospital. Scientists are doing research based on the idea that autism has genetic origins. Their ultimate goal is to develop a blood test that could diagnose both autism and what the disorder would mean for the specific child it affects in terms of symptoms and treatment.

In order to achieve that goal, they have been mapping out the genetic changes of families with autism. For an earlier study, published in the scientific journal Neuron, the researchers enrolled 1,100 families with autism and drew blood from them in order to sequence their genes. They focused on the families where only one member had symptoms of autism.

The researchers found proof that some of the genetic changes associated with autism are new, which means that they occurred spontaneously in the parent's sperm or egg. In other words, the gene for autism isn't inherited – it's a new genetic event that only happens in one person.

To me, that theory makes sense. During fetal development, certain genes are either duplicated or deleted, but the changes can vary from person to person. So, it does seem that in some families there is a variant gene, which may or may not be duplicated or deleted, that could explain some of the symptoms of autism.

Because the genetic changes seem to be spontaneous, that also explains why family history plays such a small role in linking the autism spectrum to any inherited pattern of genetic defect.

While the unpredictability of autism as suggested by this study may seem daunting, I am actually encouraged by the ongoing research at this hospital as they continue to enroll patients and their families so that they are able to create a better genetic map of these unique changes.

I also agree with their resolution to have a test that would help not only identify where the child falls on the autism spectrum, but more importantly, help to create specific therapies that will help these children continue to thrive in a beautiful way.

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