Genetic Testing for Developmental Delays

Updated on December 04, 2011
T.N. asks from Los Angeles, CA
11 answers

Hi Moms.
I have posted here about my son before and have gotten really helpful answers. Just a quick background, my son is 4 and has been in special education preschool since he was 3 years old for a speech and language delay. We recently had an appointment with a developmental pediatrician and I thought she did a great job. However, there was not too much that I did not already know although she did have some helpful suggestions. He was not given a diagnosis. She says he is not autistic, but she says that he is a complicated kid meaning that it’s very difficult to pinpoint on what exactly the problem is. She also mentioned that it takes an extraordinary amount of effort to get him to complete a task and that he prefers things he is interested in. She used the word "tough kid. She also suggested if we wanted, genetic testing. Have any of moms done this? What are they looking for? The only one that I am aware of that can cause developmental delays is fragile X syndrome. My son does not have any of the physical characteristics for fragile X syndrome. We have no history of it in either side of the family. Also, what else would you moms do for you kids if they had a developmental delay? She suggested that he would need a one to one shadow for him at school to be placed in his IEP. In addition, she also recommended finding an extracurricular activity (i.e. swimming, music) for him on the weekends. I was already looking into extracurricular activities and I plan on taking to the school after I get the report. Any other suggestions? Or any thoughts/experiences on genetic testing?

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So What Happened?

Thanks for the helpful information so far. My son can talk. He does not talk like a "typical" 4 year old. He only speaks when necessary and then sometimes not. In addition, he is not performing at the pre-academic level that he should be. From what she could see at the assessment, he is performing at about a 24-30 month level and he is 48 months, although at times he does things at his level and beyond. He is just very inconsistent. I am not necessarily thrilled about getting genetic testing. I just think that if there is something genetic better to find out early than later for his sake. I personally think he has a learning disability or auditory processing disorder and like Dawn B these things will have to wait to be tested. Thanks for the note about the genetic cost with insurance; this is good to know beforehand. Any other suggestions/thoughts...please respond. thanks.
Update: Thanks for all of the extra responses. We will definitely be making an appointment with a geneticist to get more detailed information, but it’s good to go in there with some information. One of the reasons to get tested is that if my son’s delays are due to something like Fragile X syndrome, then we can get services from the state through a regional center, without a diagnosis we can just get services through the school district.
Update 2: Thanks for the extra responses. The more I have thought about it. We may just do the genetic testing for “disorders” that are well understood, i.e. Fragile X syndrome and so forth. I personally feel he does not have this, but it is better to check. The other genetic mutations that are part of the microarray are not well understood and will not tell me much or get me more services from the state. Plus, there is no gene therapy they can do. In the future, if there is a discovery made, we can do testing then, the genes will not change. For what I understand, an individual may a genetic mutation and it may not affect the individual at all.

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D.B.

answers from Charlotte on

I guess you could do genetic testing, but I will bet that nothing will show up. If it makes you feel better, then at least it's something you can ask for.

The hard part in finding a diagnosis that is elusive is that he's so young. What I really think you might need to do is get him as much early intervention as possible. Keep working with him, provide consistent boundaries and discipline, have all his "team" on board with the overall plan, and wait this out. When he is around 7, you can do more testing, along the lines of CAPS, dyslexia, etc. Have an OT work with him as well as the speech therapist. And get the speech therapist to do some real work with him on receptive language skills. The more she understands this part of him, the better.

If he is not able to handle a regular classroom later, you might consider a Montessori approach. The more you can do to help him NOW, though, the more chance that a private school will accept him. Otherwise, it's either an IEP in public school or homeschooling.

Good luck!
Dawn

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M.B.

answers from Orlando on

My son had a test called microray(sp) which from what the neuro said is a genetic tests that looks for development issues. My sons came out negitive for all. But be warned if they suggest this test it's about 3000$ and insurance is picky about covering it! It took us about a month to get an approval for it.

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S.H.

answers from Honolulu on

So has an overall developmental assessment, been done on him?
He is only being seen for a speech & language delay, currently. So I assume he was assessed for that specific concern.

Developmental delays, are not necessarily picked up by 'genetic' testing.

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M.P.

answers from Portland on

I, too, have never heard of genetic testing to diagnose a "tough kid" or for developmental delays or learning disabilities.

Have you tried googling genetic testing? There are many, many conditions that genetic testing can discover. However, did she mention any sort of treatment that would be available for anything that could be found?

I urge you to call the pediatrician and ask what she meant.

Later: I found this web site that has general info on genetic testing. I found it helpful, easy to understand, and not at all scary.

http://www.google.com/#hl=en&sugexp=ernk_spiketing&am...+

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J.W.

answers from St. Louis on

My son was a tough nut to crack and wasn't diagnosed until he was six. We knew it was between here and there but not exactly. He sees one of the top researching psychiatrists working with high functioning Autism, well anything spectrum. My ex has quite a bit of money so any helpful test would have been suggested. Never has he mentioned genetic testing, never! Just from the limited knowledge I have of the genes that cause spectrum disorders, there are more than eight and they have not been mapped.

So what I am saying is I find it doubtful that it will yield you anything but a smaller savings balance.

So far as shadows and such the school will work that out without a formal diagnosis. My son was in system at three receiving services and an IEP. They don't need a formal diagnosis only that there is a developmental delay which you already know.

Don't waste your money, just make sure he is getting the services he needs.

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K.M.

answers from Denver on

Wow! That sounds exactly like my son, like every detail! He is four, has language delays. He was just evaluated for autism and the results came back negative. It is very hard to get him to do something he doesnt want to. My son also has low muscle tone and sensory problems though too. We did get testing done for fragile x and that came back negative, but other than that we didnt get anything done. Just keep your boy in school and try and get him into any therapies you can. We do have my son in swimming twice a week and it has been amazing for him! It took him a little while to warm up to it, but he lookds forward to that more than anything else! We are also trying to get him into hippotherapy which is supposed to be very helpful. My son is really the same way, he is behind on some stuff but then other stuff he is above and beyond. Very frustrating, but common I think with SPD. Good luck!

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B.W.

answers from Seattle on

I could have written this! My 4 year old son was evaluated over the summer, found not ASD but speech delays, low muscle tone and sensory issues. They suggested genetic testing at the time and the doc put the orders into the lab. I put it off forever until the doc's office called me last week and reminded me to do it! So I bit the bullet and brought my son in for the blood draw. I figure more information can't hurt. The thing is, he has made TONS of improvement in the past few months, so who knows what is going to happen when he enters Kindergarten next fall? Oh well, we will see what the testing says. If he has some rare genetic variation I'm not sure if it will tell us much, though.

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J.C.

answers from Philadelphia on

If the docs are able to find a genetic component to your son's issues perhaps it would aid in his treatment / therapies. I personally would have it done. My friends daughter is developmentally delayed and they just found out at age 8 she is missing a part of her brain. This info. allowed her to get more services from the school for her daughter.

There are an unbelievable amount of genetic conditions (xyy, Williams Syndrome. Etc.) that can cause delays. I really do not suggest you google it because it could cause you to worry needlessly but once again I would have it done.

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C.A.

answers from Los Angeles on

I would get it done, it can't hurt. My cousins kids have a weird genetic thing, that they thought was CP after #1, and then #2 had the same signs. So, they did genetic testing. Turns out there are about 20 kids in the US with what ever it is (sorry, I don't remember) and it's found in Eastern Europe. It is so rare, that if they had the testing done before pregnancy it never would have been found.
The good thing about the testing-They were able to change the kids diet, and that helped immensely. The oldest is working on her master's degree.

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J.D.

answers from Cincinnati on

Can your son talk at all? My son cannot. I had genetic testing done but not because I wanted to. My son was not talking or making sounds at 2 but of course the pediatrician wasn't concerned. He had a seizure that lead to a CTScan which showed nothing so they did MRIs and at the noise level of the machine it showed he was lacking creatine in his brain. That being said, they tested me, mom and sisters to see if we were carrying the gene that lead to his non talking. After lots more testing and observations by every different person imaginable, he has the creatine deficiency, cognitive delay, some sensory problems and mild mental retardation.
I don't think you should have the genetic testing done unless it will make you feel better.

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B.L.

answers from Los Angeles on

I agree that knowing if it is genetic has a lot of positives -- especially the ability to get resources. There are so many things it can be, and it is hard to figure it out at such a young age.

My 9-year-old has auditory processing disorder plus other delays, and recently we realized he had mild traumatic brain injury. Sounds worse than it is, and there are things that can be done to heal it. If your son has ever had a bad hit to the head, it could be MTBI.

If your son is autistic-like but not autistic, it could be many things, including APD, Sensory processing disorder, ADD, TBI or a genetic issue. I always tell parents to read The Mislabeled Child by Drs. Eide. It's an excellent overview of learning disabilities and developmental delays, and it often gives you insight into what is really going on.

If you think your son has APD, feel free to join our private Facebook group. Many parents of kids with APD, as well as adults with APD, share great info as well as moral support: https://www.facebook.com/groups/213243298737362/

Best of luck to you!
B.

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