"Stop calling it Autism!" (website)

Post Reply New Topic

We already know the first cause of autism--the thing that gets the ball rolling--is genetic. That can be found through twin and sibling studies, and it's a simple matter of math.

What we don't know is how those genes express themselves. Autism spectrum disorders are probably the single most heritable mental disorder for which we can't point to a single gene. It's more heritable than schizophrenia, ADHD, bipolar, or even mental retardation. But we still can't find a single gene--because there is no single gene.

Autism is probably a behavioral characteristic that is common to many types of atypical development. What we haven't yet traced is how we get from the genotype to the phenotype: How does the autistic brain develop; how is it different from NT brains? What thing are the genes affecting that is so related to autism? So far, we're pretty sure it has something to do with the physical structure of the brain--autistic brains are significantly different for any micro- or macrostructure you care to examine--but what, exactly, the difference is, we don't know.

And then there's the interesting difference in expression. While autism spectrum disorders as a whole have a heritability close to 90%, the heritability of specific types of ASDs is lower. That is: You have one twin with autism. His identical twin will almost always be autistic--but he might not have the exact same sort of autism. You could have one kid with Asperger's and one with Kanner's, or two kids with wildly different variations on PDD-NOS. Somehow, those phenotypes diverged from the genotype. That's not an unknown thing: Identical twins also have different iris patterns and fingerprints. Autism could be something of the same sort. That, we still don't know.

We know autism can result from Rett syndrome. We know it is more common in cases of congenital rubella syndrome, which causes fetal brain injury. We know it's more common with Down Syndrome, and that autistic traits are associated with Fragile X.

My theory, and that of many autism researchers, is that autism is a single phenomenon that can be caused in many different--mostly genetic--ways. There seems to be some aspect of the very early brain's development that tends toward autism under certain conditions--conditions which are probably related to the way the genes are guiding the brain's development during that time. It may even be a protective factor--some failsafe that triggers, allowing the child to survive a genetic problem that would otherwise be fatal. Who knows? We don't--yet.

In all of this, we need to focus on research that will produce practical solutions for autistic people--directly or indirectly. Knowing how the autistic brain develops will let us understand how to best teach young autistic children. If we just go doing research that won't increase our store of useful information, we're just wasting money.

Good post Callista.

I'd like to clarify that I don't mean to imply that finding causes is not a good idea, or that no progress has ever been made in finding causes. I do think causes should be sought, and even feel that, if cures that actually work are found, that is a good thing, not a bad thing.

What I have trouble understanding though, is when "this cause" or "that cause" is discounted by people, with no proof that the cause DOESN'T cause Autism, based solely on the belief that it couldn't possibly cause it. It's a set of symptoms, not a disease with a specific cause. Cures may depend on causes, but treatment dosen't depend on them at all.

When it comes to whether or not a person qualifies as Autistic, the cause doesn't matter.

As far as treatment goes, the ONLY thing that matters is whether the patient displays qualifying symptoms. If they do, they should get treatment. If society starts discounting Autistics based solely on the cause of the Autism, and suddenly starts telling people, "Sorry, you are no longer considered Autistic," all those people will never be treated.

How is that right?

It's not.

All this could change if all the causes are at some point isolated and identified. Right now, we just don't know for certain what does or does not cause it. All we know is there is a set of symptoms, and ways to deal with them. Let's not start throwing people out of the support systems just because we don't believe they have Autism.

If we have it, let's deal with it in whatever way we need to. If someone else has it, what business is it of ours to say they don't for any reason?