Although genetics experts are getting closer to finding the markers for autism and have identified some genes that are most likely implicated, it is known that several genes have to be present in order for an autism spectrum disorder to be present, unlike with Down Syndrome, where there is only one gene. It will take quite a while to get the genetic info that would be necessary to use a genetics test to medically diagose an ASD. We are all waiting for that day, I know.
Autism is diagnosed "clinically," not "medically." That means that nothing in the body or brain reveal autism, only in the behaviors (or lack of certain behaviors) in the child. In other words, autism is diagnosed thru the obervation of a pro who is trained to recognize symptoms. Two MEDICAL issues that I know of that can cause autism symptoms are Fragile X, which IS diagnosed in a blood test, and Tuberose Sclerosis, which I believe is seen in a CAT scan (they look for the tubers in the brain). Other than these two medical issues, autism does not have a medical test that can reveal it. DAN! protocols are controversial and the medical community does not recognize any of those tests as true tests of autism. this topic is funny cause i remember probably a decade er so ago my parents said something like that. Ive known for a while its a little bit off into the future but since they cracked the human geanome they can make a variety of different tests that, well... if i can remember back to biology, tests like that would have to react to a specific protien that encodes instuctions from at least 1 geane. They have a variety of new tests now since then used by law enforcement and the medical industry. Like stated above im sure itll be a few years off but soon they will be able to make a test for anything that way.There isn't any biomedical test for autism yet -- the only way to diagnose is by symptoms. This lady must have misunderstood.
I did read an article/interview recently with an expert from Kennedy Krieger that said a blood test is minimum 5 years off. I actually thought that was a very optimistic estimate.
There is a condition called Fragile X that has similar symptoms to autism and can be detected by a blood test...could this be what you may of hears of???
I was looking at this site that's filled with advice for Moms and one Mom was looking for advice to have her child evaluated for Autism and their was a response from a Mom who says that she has a nephew with Autism and they found out from a simple blood tests?! I have not heard of this before( correct me if I'm wrong), if only this were true alot of people including me would have known our children were autistic earlier than they did. I just wanted to share that with everybody real quick.
Thanks for sharing the information on SMS. Angelman's is a similar story -- can look like autism, underdiagnosed, etc. When my son was evaluated by the hospital team of specialists, the head pediatrician looked for signs of dysmorphy. He didn't find any, but it's reassuring that they were thorough. I looked at the list of SMS characteristics, and I think if I had a child with hypotonia, I'd start to wonder. Robyn F. -- Yes, I am in Norway, but I am an American from Minnesota. I moved here after I got married. Ten years ago now (time flies).
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