Genetic Testing?

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I just wondered if there were any parents/families who have used genetic testing for diagnosis or treatment purposes and whether it has been beneficial.

Yes and sort of. We had varied concerns about our daughter since birth. The genetic testing was ordered sometime just before age 2 because of her slow growth. The geneticist felt other symptoms might be explained by potential microdeletions. As it turned out, the results were normal. Some of the previous symptoms have subsided. Some are worse. At the time of her ASD diagnosis, genetic testing was suggested as their standard advice until we mentioned that it had already been done before with normal results. So while it was useful to rule out other concerns, it played no part in the ASD diagnosis.

Thank you for sharing your experience. I have a 4 year old son that is in the process of being screened for ASD for educational purposes and on a waiting list to be screened by medical professionals...it is ridiculous to me that it is an 8 month wait for an initial appointment. I have known since he was 2 that he is likely in the spectrum but have had a hard time until we got involved with Early Intervention last year. I am just trying to be patient and get informed as much as possible.

My son had low muscle tone and at 10 mos of age, was still not sitting up on his own. The pediatrician recommended we go through genetic testing to see if there was a cause. At this time, autism was not really even on our radar. The genetic testing all came back normal. However, my son, by the time he was 2.5 yrs old was diagnosed with PDD_NOS (Pervasive Developmental Disorder-Non Otherwise specified). He finally caught up with his motor skills but still has difficulty with fine motor and gross motor skills. As far as ASD, he is 9 now and is pretty much a classic case of Asperger's Syndrome.

Genetic testing can be very expensive, so I am not sure it is necessary for a diagnosis of ASD unless there are other issues concerning his development. If you have good insurance, it can't hurt I guess. We also ended up having an MRI done just because my son did not walk until his was almost 2 yrs old so we were very concerned about that. The MRI also came back normal.

As far as waiting for the diagnosis, I know it is hard. But when we went through it, everyone kept telling me to just trust my instincts and go ahead and keep trying to help my son as though he definitely had an ASD because it could not hurt him. I just kept getting him physical, speech and occupational therapy in that time that we waited for the diagnosis.

Thank you, I appreciate the support. That is what we are doing too, I quit my job so he didn't have to start preschool just yet and I take him to his therapy sessions. I ordered a bunch of books on Autism and on educating kids with learning disabilities. I got a little preschool home school kit and we have been working on scripts and script fading. He is an echo speaker but it is improving some. I think what works best for him...and it did before I knew other people did it...is video self modeling. He reenacts things he sees on video so we have to be extremely careful what he is exposed to. However, I try to capture him doing good things that we are encouraging so he can watch, study and repeat the good behavior.

He sounds a lot like my son. I know what you mean about monitoring what he sees. Videos can be very powerful for our children in good ways and in bad. They can be very helpful, but at the same time, they can sometimes get stuck on things. My son is 9 now, so as hard as I try to monitor everything he is seeing or hearing, it is no longer possible with him going to school. But I do still try----

We don't know enough about autism genetics to diagnose an ASC by genetic testing. However, there are a number of (individually rare, collectively fairly common) genetic conditions which can cause or mimic autism, such as 22q13 deletion, Fragile X Syndrome, isodicentric chromosome 15, Velocardiofacial Syndrome, partial trisomy 16, Angelman Syndrome, Prader-Willi Syndrome, etc. So I could see doing genetic tests just to rule those out, since many of these conditions can cause other issues besides autistic traits. (For example, Prader-Willi Syndrome causes an eating disorder that can be fatal if not managed effectively.)

However, most of these conditions also cause minor physical anomalies (such as an odd facial appearance, poor growth, etc), so I would have thought most doctors would only order testing if the child had other signs hinting at a genetic syndrome.

I got genetic testing done when I got my diagnosis and it was quite interesting. If there is any genetic defects one can obtain information on it and it general good to have a record of it. However, I was covered by the government and if wasn't it would have cost $3000. It is pretty interesting to have done, however, it did not end up being that helpful.