Autism and implicated genes – Tuesday 4th January 2022
Autism and implicated genes – Tuesday 4th January 2022
I saw an article yesterday and read a few points intending to get back to reading it in its entirety and now can’t locate it. I wanted to make some comments.
When I first became aware of autism my son’s pediatrician had never heard of it. That’s how rare it was and now a couple of decades on and it’s rare to find someone who hasn’t heard of it.
The statistics were about one in a thousand approximately back then and now it’s quite startling. That’s a very short time for the statistics to be what they now currently are in comparison
Most conditions affect a proportion of people and that statistic remains steady per population size.
Autism, like Rett Syndrome uses a similar genetic path. However, Autism is often still not evident at a year of age, whereas Rett Syndrome generally is.
There are many conditions that have a known gene that causes the condition. Rett Syndrome was found to have an error in the mecp2 gene and most patients were found to have some type of error in that gene. The next question was, what causes the error in that gene. Rett Syndrome is a very specific set of symptoms and though some will have a variance in their group of symptoms and also the severity, it is evident very early. Autism, on its own, without any other conditions present often isn’t evident until a few years of age and it too will present with different severity. Autism therefore has a broader scope for want of a better word. It isn’t rare nowadays for a family to have more than one child with the condition and often one of the parents has gone through life undiagnosed.
For these reasons and more we see a multitude of differing genetic errors, some that seem related to the person’s autism and some seemingly not.
Each of us has our own unique genetic code but it’s more than a code. It’s a molecular structure that formed from each of our parents codes at the same time the person began to form. It commences work immediately and takes charge of all our development. It makes selections in early development for the best possible outcome. It isn’t just a basic blueprint that what is is what will be, it is capable of recognising certain problems and utilising certain brief windows of opportunity to make adjustments and works daily for the rest of each our lives maintaining each of us and leaving with us when we must leave.
So because our codes are so unique and autism has such a broad ability to effect our species we will see a great many errors genetically downstream of the core issue that ultimately results in the state we classify as autism.
If it hadn’t been autism, could it have been something else that may have caused the person’s demise? Possibly so. Something to think about.
Fiona MacLeod (C)
