Genetic testing to diagnose/confirm Asperger's & other A

Post Reply New Topic

Anyone have any experience with using genetic testing to diagnose Asperger's?

Our son's pediatric neurologist ordered chromosomal microarray, and we're supposed to get the results back, next week (or that's what I assume, anyway, since we have another appointment & enough time will have passed).
This was never discussed with us; we weren't even told there would be genetic testing; we were only informed of "bloodwork" which I assumed was something they normally did before an MRI, which had also been ordered. I only found out about the genetic testing, by carefully looking through all the paperwork that had been shoved at us, afterwards.

On one hand, I feel very squicky over the idea of contributing any amount of statistical data to testing that could be used to selectively abort kids like mine. On the other hand, I sort of feel like "Well, f*ck 'em; if the world wants to eradicate its creative brilliance, right along with "imperfect" kids, then who am I to stand in the way?
And on yet another hand (as I apparently have three, heh), I can't help but be fascinated by the chance to poke around in my son's genes. We may learn nothing, but who knows?

It's my understanding (and I'm certainly no expert on this) that this sort of testing only finds a diagnosis about 40% of the time, so chances are substantial that it will just be another eye-rolling waste of time. But God, wouldn't it be lovely to have it all turn out so simply? Just a packet of results that says "Oh, yes; without a doubt. Here's exactly what he has, and here's how we know."


Anyway...anyone had this testing done, for themselves or their child? If so, was it at all helpful?

We didn't have that don't and our doctors feel it would be a wast of time/money so we're not planing on it. But we did have the fragil x testing done because the DOD schools pushed for it. I felt it was silly when you look at Jake he's very big for his age and didn't have any of the other tale tale signs of that disorder. I think it would be ineresting to know more of whats going on so some of the bad things having to do with autism could be better treated but like you I worry about this being a door way for parents to abort childern that don't fit their idea of the perfect.

This might interest you:

http://en.wikipedia.org/wiki/Heritability_of_autism

There are a few conditions which can cause autism like symptoms, which can be screened for via genetic testing. Your doctor may have been trying to rule those out. There are also a few genes which are somewhat linked to autism. Like 50% of autistic people have gene XYZ while only 5% of the normal population have it, etc. But as for a definitive yes or no, absolutely not. There is no known way to show autism via genetic testing.

You can't test for autism with a blood test yet. You can rule out fragile X and a host of metabolic diseases that often masquerade as autism. He is being thorough, it seems to me, and I would welcome it. Some of the diseases are treatable and voila! the autism is gone. Most are not, but I think it is a good thing that he is being careful.

From what I've seen, looking into this particular test, there are specific areas in which deletion or replication have been commonly associated with Autism and similar spectrum conditions. So, if you test a child with odd behavior, and find these results, it is assumed as a firm diagnosis of ASD.
But again, only around 40% of those tested will show the markers, and so it's obvious that there are many more genetic irregularities which have yet to be discovered. All the same, that's what I meant by "diagnosis through genetic testing."

There's a whole list of developmental conditions for which this lab checks, and yes, they'll be ruling out somewhat similar concerns, such as Fragile X. Our son has growth issues, and often behaves in such a way as to look mentally impaired (inappropriate grinning, odd movements, strange answers to questions he's asked), and so the neurologist seemed a bit shocked when we mentioned that he is, actually, quite brilliant, and tested at 2 SD above the norm, on an IQ test, despite the fact that he GOOBERED his way through it. He uses his intelligence in very narrow ways, none of which were easily picked up on, during testing, and so we were impressed he was even able to score as high as he did.

The bizarre thing is, this neurologist has NOT been "thorough," thus far. I made a list of our son's developmental history, as well as a list of his traits/behavior which stood out as unusual, and the doc refused to even look at it - he was polite, but clearly not interested. He skimmed lightly over developmental questions, and only briefly addressed our son, asking him what he wanted to be when he grew up. Which got the response "SCHOOL. WHEN I GROW MUCH BIGGER I WILL GO TO SCHOOL! KIDS HAVE TO GO TO SCHOOL!" said in such a manner as if he thought the doctor rather stupid, for asking, heh.

That testing was ordered at our first and only visit, and the doctor's behavior was very odd. He asked us, over and over and over, if we were very worried about our son, and when I said that we realized our child was unusual, but did not consider Asperger's anything terrible*, he repeatedly asked WHY we were there, if we were not more concerned. It's a little hard to explain, but the experience and strange line of questioning was disturbing - so much so that I was rendered near-useless, as I couldn't fathom what the man was driving at.
*To add perspective: I have Asperger's, and all three of our children show a variety of AS traits, so none of this is terribly worrying, to us. Perhaps that's what confused the doctor so - the fact that we would calmly describe signs of a neurological condition, yet remain unbothered by our child having it.

Soon after, he just ordered the tests, and hurried away, leaving us a bit shell-shocked. We didn't even know he'd ordered an MRI, 'til the nurse mentioned it.

Our pediatrician (who'd sent us to this neurologist) was as confused as we were, and has assured us that, if need be, he will make the diagnosis, to get the matter settled and down on paper in time for our son to start pre-K, and get the services he may need. At first glance, he looks very ADHD; it's only his autistic-looking manner, & obsessive interests that clearly make it obvious something else is going on. At any rate, he's going to be a handful, to say the least, in a classroom, and so we're anxious to get him some assistance with the transition to school.

The place where I was diagnosed, the Maudsley Hospital, did genetic screening but like Tracker said it is to rule out other things. There is no genetic test for ASD.

We had the Fragile X test done but haven't had any further testing. I don't think we will go any further with that, as we are done with having babies and he is what he is, no matter what the testing says. More than likely he is just a product of my ADHD self and my husband's OCD.

*Came back to edit: We aren't done having children because of our son's diagnosis. He's the second out of 3, and we are just done.

Last edited by jenny8675309 on 28 Jun 2009, 2:53 pm, edited 1 time in total.

tiffofdoom, it does seem that you thoroughly unnerved that doctor.
I remember a doctor that was afraid to touch my daughter and I didn't get the diagnosis of what was going to kill her any moment now until two days after the ER looked at her. (Epiglottitis) So I ran her into Intensive Care and stayed in bed with her to keep shaking her every time she stopped breathing. They were dripping antibiotics into her, but nothing was helping, and every doctor coming in to interview me asked me when I first noticed my daughter had something wrong with her (meaning the autism). I kept wanting to scream at them, "Find out why she's sick!" A day and a half later, a doctor came in while I was changing my five year old's diaper and I respectfully (if you are not respectful you will NOT be listened to) pointed out that it seemed that the lymph nodes in her groin were enlarged. He looked and ran out of IC. Then a tech ran in and drew blood. Then a nurse came in and added prednisone to the line. She had mono! And in only 4-6 year olds does mono swell up the throat (or so I am told). Fifteen minutes after getting the prednisone she was sitting up and bouncing around. And fifteen minutes after that we were walking out of the IC, leaving behind a batch of broken kids.

Lelia:
Thank God we've never had to go through anything as scary as that. I do know what you mean, though, about doctors not being able to see past one condition, to figure out the problem. Our son has a lazy eye, and growth issues, so we're constantly having to say "YES, we DO know he's tiny." "YES, of COURSE we've noticed his eye." "YES, he has PLENTY of doctors, already working on that. Now unless you think that relates to THIS issue, can we move on?"


And to anyone who, like me, didn't know much about this sort of genetic testing, here's more on that:

What our son had done is the Oligo Micro Array. His testing was done by Transgenomic Molecular Labs, and they call it the CMA-244k.

You can find out more about it, by clicking the links, but here are the specific conditions it tests for, and the genomic locations in which it looks for changes, including those related to Autism -

PDF of conditions screened for, and genes/locus involved.


At any rate, I'm hoping that the test results will rule out numerous other causes for his behavior, at which point the neurologist will proceed with less-novel AS testing, such as parental assessments. I can't imagine him having anything other than some kind of ASD, since his behavior so strongly resembles that of his sisters and myself - it would seem a pretty unlikely coincidence for there to be TWO different conditions causing the same behavior, in one family.

there is NO CONFIRMED genetic test for ASD's because there are NO GENES which have been identified. That doesn't mean it's not genetic, it most likely is, but it's entirely possible that the reason for the spectrum being so broad is that there are different genes involved in different cases. There may be a rainbow of possiblities.
There are suspected genes, but until they prove that it causes ASDs in all or a statistically significant percentage of cases, these genes won't be IDENTIFIED.
No neurologist can diagnose ASD because they are not qualified. They can't do a medical test, YET, although we all hope that day will come. Blood test- confirmation or rule out. Brain scan-yes or no.
Right now, it takes far more than just a parent questionnaire if you are covering all the bases. There are tests that are statistically reliable, yes they are behavioral tests, but a well-trained psychologist or psychometrist can do them. It's all the confirmation you need.

matrixlover:
Although it may not be the way in which you'd intended this to be taken, I cannot help but read the above as quite a lot of excitable screaming.

I've never understood why people can become so agitated at being presented with new information that does not agree with them. Most especially in a format so detached as an internet message board. All the same, I apologize if I have somehow offended or uncomfortably excited you, even as I am baffled as to how that could be possible.

Leaving the entirity of the rest of your ideas aside, as they do seem to be very fervantly held, I cannot resist my curiousity on one point:

How, did you come to believe a pediatric neurologist less qualified than a psychologist, to diagnose a condition which is neurological, rather than psychiatric?

I'm afraid your logic elludes me, in that. All the same, your expression of such is certainly fascinating.

I was diagnosed here. I asked what they needed to test me for. They explained they need to check fragile x , copper ( I think) , random glucose, thyroid, full blood count, urea and electrolytes & some hormonal tests. My son had these also.

I then had a spectroscopy which was, I believe , more for research purposes than anything else. It hurt my ears though and I had to stop. I am still awaiting all the results.

We had genetic testing done, but only for Fragile X. If C had been positive, I'd have then gotten tested (as far as I remember). It was negative and the geneticist recommended that "we" refine the chromosomal study to two in particular which can show differences but not on the standard testing...or something to that effect. I said "no" at that point. Digging deep enough, I think just about any of us can show an "off" gene or two. So I just didn't see the point...it wasn't going to help C any. If it had been something lethal or debilitating that he could have passed on then we would have had him tested, but he's not going to die of autism so we're squared away now.

I've never heard of genetic testing specifically for AS.