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Genetic testing for autism

post #1 of 8
Thread Starter 

Anyone had this done? Is it normal?


I took my daughter to her 6 month check up and mentioned that she isn't babbling yet and that I was concerned since she has three brothers with ASD and her ped said he wanted to get all four kids set up for genetic testing.


I didn't really discuss it with him since I had two cranky toddlers and an unhappy baby, but we go back on Weds for my 2yo's check up and I guess we will pick back up from there. I told him I would have to check with my stepsons' mom first to see if she would allow it and I know there is no way she would. My husband said no also... So just wondering if it is beneficial in any way, because if so then I would like to do it.

post #2 of 8
Hi. Our daughter was given an autism diagnosis in August, but also had genetic tests done. Hers was a regressive autism though and they are checking for all sorts of chromosonal, genetic problems (Rhett's for one). In your case maybe they are more interested in a sibling study? I know it is beneficial for scientists to check siblings who have the same disorder, since they already share so many genes, maybe be helpful to isolate the "autism gene"? I don't know for sure, its just a thought. If I had more than one sibling with ASD I'd probably do it, but its a personal decision
post #3 of 8

I think you should.  Genetic research on autism is really important to get to the root causes. 

post #4 of 8
Thread Starter 

Yes, he wanted it done for a sibling study. I want to do it, hopefully my stepsons' mother will allow them to go too.

post #5 of 8

My son displayed autistic like symptoms but then, when he'd get used to his surroundings, those symptoms would disappear (flapping, no eye contact, etc.).  His developmental pediatrician felt he wasn't fitting in the usual "boxes" so he ordered genetic testing.  Turns out he has a genetic deletion (16p11.2) which is associated with autism and autistic like behaviors.


I really think that if doctors and specialists started ordering a micro array (genetic test) for all kids with developmental delays - we'd see a lot more advances.

post #6 of 8
Thread Starter 

Wow, I am curious to see what they would find!


My oldest stepson was diagnosed at age 3 with PDD-NOS. Younger stepson was never diagnosed because I guess his mom didn't feel that it was necessary since she homeschooled until this year. She is in the process of getting him diagnosed now though because he is having a ton of problems in school, getting sent home a lot, and they won't place him into an inclusive classroom without a diagnosis. And the doctors won't give him a diagnosis until he passes his hearing test. He just won't cooperate with them whenever they attempt to test his hearing.


It was always in the back of my mind that my son may have autism too since his half brothers did. But he always had great eye contact and was a happy, loving, smiling, cuddly baby so I didn't think he did at first. He also had about 10 words by age one. But then I started worrying when I noticed that he wasn't pointing, waving, clapping, gesturing etc at 13 months. Then at 15 months he just stopped talking. After a couple weeks he would say one word and repeat it for about a month, then change words and say the new word for a month and so on. It wasn't until this summer (age 22-24m) that he started saying more than one word at a time and he has finally learned to point, clap, and wave, although he doesn't do it much.

post #7 of 8
Thread Starter 

My 24m old also spins, lines things up, flaps his hands, throws major tantrums, etc no matter where he is! He absolutely hates being around crowds of people, which makes it so hard for me to attend my older children's school functions and such.


I wish there was a fix-it button but then I also get sad thinking like that...because then he wouldn't be him. And I love his goofy little self smile.gif

post #8 of 8

DS1 was given a ASD dx this year and genetic testing was encouraged. We did it and it did unveil a small duplication, it is not the cause of DS1's issues though. It has been interesting experience. We are going to get the parental studies done to see if either DH or I have the duplication as well. 

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