Genetic Testing- do it or not do it?

[Anonymous]

Anonymous wrote:OP, I'm a mom whose child has a rare genetic disorder that affects language and has many other physical manifestations.

I think there is a step missing here between on the one hand "just doing therapies" (which is a heck of a lot as you know!) and getting genetic testing. That step is a visit with a great neurogeneticist, who will examine your child and talk to you about what you observe and his developmental pediatrician's report and his functioning. Then that neurogeneticist can tell you whether he/she recommends genetic testing and what type. There are many, many kinds of genetic testing.

I personally love our neurogeneticist at Kennedy Krieger but there are some great ones at CNMC as well.

Neurogeneticists are trained to see subtle physical features of genetic issues in your child's face, lips, hands, his profile, his feet, his voice, his bowel movements. He may know which tests to order just by seeing your child. Or not recommend anything at all, or wait five years.

I think you should consider this because adding data to your child's current profile always is helpful. And I can tell you that even if it doesn't change your child's current therapies to know that your child has a genetic disorder (it doesn't for my child) gene therapies are being developed right now at an astounding rate. Your child could potentially benefit in the next few years even if he can't now.

You make a really good point. Most of us are offered through the developmental ped who is a generalist in this area.

[Anonymous]

Anonymous wrote:

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Anonymous wrote:

Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.

If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.

So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.

Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.

Such as??

When we did it, the focus was not on genetic conditions impacting language but ones that looked similar to autism and other things specific to our situation.

I'm not buying it, PP. Most of these genetic disorders although they may affect language will have other markers like physical traits:
https://www.genome.gov/10001204/specific-genetic-disorders/

The only reliable health information source that comes up on google for 1 in 500 is this:
http://www.childrenshospital.org/conditions-and-treatments/conditions/polydactyly-of-fingers/symptoms-and-causes

My guess is that your kid is autistic and the genetic testing didn't reveal anything.

Not all kids have autism. Except the ones you consistently diagnose.

Didn't diagnose anything. Myself and another poster is asking the PP which genetic disorder "looks like autism" and affects "1 out of 500 kids."

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.

If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.

So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.

Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.

Such as??

When we did it, the focus was not on genetic conditions impacting language but ones that looked similar to autism and other things specific to our situation.

I'm not buying it, PP. Most of these genetic disorders although they may affect language will have other markers like physical traits:
https://www.genome.gov/10001204/specific-genetic-disorders/

The only reliable health information source that comes up on google for 1 in 500 is this:
http://www.childrenshospital.org/conditions-and-treatments/conditions/polydactyly-of-fingers/symptoms-and-causes

My guess is that your kid is autistic and the genetic testing didn't reveal anything.

Not all kids have autism. Except the ones you consistently diagnose.

Didn't diagnose anything. Myself and another poster is asking the PP which genetic disorder "looks like autism" and affects "1 out of 500 kids."

I am not the PP but perhaps they mean Fragile x.
https://fragilex.org/fragile-x/fragile-x-syndrome/autism-and-fragile-x-syndrome/

[Anonymous]

No I would not. But if you do, at least get more information about what *specifically* they would be screening for, and how knowing this information would *specifically* help the health outcome of your child.

If you go off on a fishing expedition, some genetic issue could be found that may/may not be linked to potential health problems down the road. Many humans have genetic "issues" which may never even be expressed or be an issue from them.

Your child would never be able to get life insurance. Depending on how our health care system goes, having some type of known pre existing condition could preclude them from ever getting health insurance as an adult.

[Anonymous]

https://www.nidcd.nih.gov/health/specific-language-impairment

Children with Specific Language Impairment (about 8 percent of the kindergarten population) are often misidentified as autistic.

Oxford researcher Dorothy Bishop's studies on genetic tests comparing children with autism and children with SLI is fascinating.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.

If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.

So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.

Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.

Such as??

Klinefelter syndrome affects 1 in 500 to 1,000 newborn males.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:I would go back to the developmental pediatrician and ask what the reason would be for genetic testing, e.g., if she/he suspects something specific. Many rare genetic diseases will display some kind of confounding trait or symptom. If in the small chance that there is a rare genetic condition going on, then NIH would be a good place to go to connect with a clinical trial.

If insurance covers it, then fine to satisfy your own curiosity. But if it doesn't, it could cost you $4K out of pocket for a microarray and more than likely won't tell you anything as DCD is neurological.

So for all those parents who are struggling what caused it specifically won't find it from genetic testing and probably never know. It just is what it is. Treat the symptoms with OT and/or PT.

Just to clarify, there are genetic conditions that affect processing, language, etc. that are not so rare; quite common in fact like 1 in every 500 children.
As a PP stated, knowledge is power.

Such as??

Klinefelter syndrome affects 1 in 500 to 1,000 newborn males.

Klinefelter syndrome does NOT look like autism so the pp who is posting about a connection to autism and it being of a 1 in 500 male occurrence does not know what they are talking about.
Klinefelter syndrome or 47, xxy varies from male to male in range and severity of symptoms but is is a more common genetic issue. Language challenges can be a hallmark of the syndrome but language challenges can also be a hallmark of many other conditions as well.

[Anonymous]

<<there are some great ones at CNMC as well. >>

Such as?

[Anonymous]

Anonymous wrote:No I would not. But if you do, at least get more information about what *specifically* they would be screening for, and how knowing this information would *specifically* help the health outcome of your child.

If you go off on a fishing expedition, some genetic issue could be found that may/may not be linked to potential health problems down the road. Many humans have genetic "issues" which may never even be expressed or be an issue from them.

Your child would never be able to get life insurance. Depending on how our health care system goes, having some type of known pre existing condition could preclude them from ever getting health insurance as an adult.

Ah no health insurance is a scary thought. Thanks.

[Anonymous]

Anonymous wrote:OP, I'm a mom whose child has a rare genetic disorder that affects language and has many other physical manifestations.

I think there is a step missing here between on the one hand "just doing therapies" (which is a heck of a lot as you know!) and getting genetic testing. That step is a visit with a great neurogeneticist, who will examine your child and talk to you about what you observe and his developmental pediatrician's report and his functioning. Then that neurogeneticist can tell you whether he/she recommends genetic testing and what type. There are many, many kinds of genetic testing.

I personally love our neurogeneticist at Kennedy Krieger but there are some great ones at CNMC as well.

Neurogeneticists are trained to see subtle physical features of genetic issues in your child's face, lips, hands, his profile, his feet, his voice, his bowel movements. He may know which tests to order just by seeing your child. Or not recommend anything at all, or wait five years.

I think you should consider this because adding data to your child's current profile always is helpful. And I can tell you that even if it doesn't change your child's current therapies to know that your child has a genetic disorder (it doesn't for my child) gene therapies are being developed right now at an astounding rate. Your child could potentially benefit in the next few years even if he can't now.

Thanks very much for this insight PP.

[Anonymous]

Anonymous wrote:https://www.nidcd.nih.gov/health/specific-language-impairment

Children with Specific Language Impairment (about 8 percent of the kindergarten population) are often misidentified as autistic.

Oxford researcher Dorothy Bishop's studies on genetic tests comparing children with autism and children with SLI is fascinating.

And you don't diagnose either with a genetic test.

[Anonymous]

I would not. The no health insurance is a real risk. But I'd weigh the befits. It also could result in issues with the school. I'd treat the symptoms. do the therapies.

[Anonymous]

Anonymous wrote:

Anonymous wrote:OP -- your child is young and you are at the start of this. Some kids with this diagnosis tackle it and have a super functional life. For others, it is a symptom of a larger problem. I hope you fall in the former category but looking back I would have liked to known earlier that it is a symptom

+1 my son was diagnosed w suspected apraxia by the SLP at 2 and confirmed at 3. It was global and the OT used the term dyspraxia. So did the developmental pediatrician. The neuro ordered genetic testing but it didn't find anything. However that was 7 years ago and so many new genes have been identified. We threw every possible resource at our son and it paid off. He attended speech therapy multiple days a week for years (at one point 4-5 sessions a week). He also did OT privately. I sat in every therapy session I could and repeated what the therapists did at home between sessions. We are fortunate. He was able to attend mainstream K and was finished with speech and OT by the summer after 1st grade. At 9, he is actually quite coordinated and his speech is clear, but he does have minor issues if he is tired or sick. The only lingering problem is he has slow processing speed.

This is great to read! So glad things are going well. I am doing the same with therapies and will hope for a similar outcome. We shall see.

[Anonymous]

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

Anonymous wrote:

I'm not buying it, PP. Most of these genetic disorders although they may affect language will have other markers like physical traits:
https://www.genome.gov/10001204/specific-genetic-disorders/

The only reliable health information source that comes up on google for 1 in 500 is this:
http://www.childrenshospital.org/conditions-and-treatments/conditions/polydactyly-of-fingers/symptoms-and-causes

My guess is that your kid is autistic and the genetic testing didn't reveal anything.

Not all kids have autism. Except the ones you consistently diagnose.

Didn't diagnose anything. Myself and another poster is asking the PP which genetic disorder "looks like autism" and affects "1 out of 500 kids."

I am not the PP but perhaps they mean Fragile x.
https://fragilex.org/fragile-x/fragile-x-syndrome/autism-and-fragile-x-syndrome/

Probably not...About 1 in 4,000 males and 1 in 8,000 females have Fragile X syndrome.
https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/Howmanyaffected.aspx

[Anonymous]

Just wondering -- aren't most serious genetic disorders detected by a prenatal CVS? I'm not the OP but when I was pregnant, the CVS results were normal but now the dev. ped. is encouraging me to do genetic testing on my delayed 2 year old. I am confused about what we might learn since our prenatal CVS didn't show any abnormalities.