Low Muscle Tone and PDD-NOS Diagnosis

[nettie103]

My son's therapist hasn't concluded his diagnoses but she's leaning towards PDD-NOS.  I was previously told that my son has mild low muscle tone (Hypotonia) and that usually represents a symptom of an underlying condition.  He met all his milestones when he was a baby growing up until now that he is showing a developmental delay at 3 years and 8 months of age. Could it be that the underlying condition is PDD-NOS? I'm worried that he may have something else come up that hasn't been discovered.

[nettie103]

Hypomobility is a condition in which ligaments are tight and movement is restricted, Hypotonia is a condition in which there is diminution or loss of muscular tonicity, resulting in stretching of the muscles beyond their normal limits.

I read about Makaton and from what I understood it seems to be sign language, am I correct?  I thought about using “My baby can Read” , have you considered it or tried it?  

You said you can see some signs of Autism and dyspraxia in your son, what signs are calling out to you?  There are some things that my son does that I thought were normal for his age but not according to his therapist.  
For example:  His expressive language, his eye-contact, his communication skills…I thought were ok but apparently he is not communicating as much as he should be according to other kids his age.  

Why is it that you're not getting any help from Doctors, specialists etc.?  

[nettie103]

Well, I'm really glad for you and your family for getting great results on your son's genetic tests.  I on the other hand still have to wait until January 2011 because that's the earliest appointment available.  A couple of weeks ago my son had some blood work done and we should be getting the results from that on Wednesday, July 14, 2010, not sure what all they are looking for because it's not (genetic testing) but hope what ever results they give us they are good ones.  
My son is an extremely picky eater due to his hypotonia (mild oral dysphagia), he will eat hard shell tacos (Jack In Box, Taco Bell and home cooked) but they can only be with ground beef.  He won't eat shredded chicken or beef in any other form but will also eat smoked sausage.  He will eat some fruits:  Watermelon, apples, bananas, oranges and sometimes grapes.  He won't eat vegetables other than french-fries which he loves.  He will also eat pancakes, yogurts of any type, applesauce, and pizza.  He likes chips, tortilla chips or Doritos and Cheeto’s. He likes ice-cream and gummy bears but he won't swallow them only ***** on them and spits them out.  He also likes tomato pasta soup, hot-Pizza pockets, and will occasionally eat chicken nuggets.  I think I pretty much listed everything he eats.  He seems to like junk food better than home cooked meals but I can’t even get him to taste the food.  To me it's not much but the therapist said he is not that bad considering he eats from all food groups in one way or another.  Of course I have to do a lot of mixing and matching his foods because my options based on his eating habits are so limited.  This lady I met at his therapy told me she had issues with her daughter as well and advised me to puree my son's food or mix it in between certain food items to see if he'd eat it but I haven't tried it yet.

  Does your son have any issues with eating certain foods?

I received my son's English evaluation last week (he was previously evaluated in Spanish because he understands and speaks some Spanish too and at one point the therapist thought that was his dominant language, turns out it was the other way around) and they diagnosed him with developmental delay.  I asked them about the PDD-NOS diagnosis and his therapist said she couldn't narrow it down to PDD-NOS because there is still testing (Genetic testing) to be done and she prefers to wait on the results.  Not sure if that was good news or bad news, I guess I have no other choice but to wait.  

I was reading on your son’s diagnosis and I was wondering does your son’s skin feel doughy type, soft?  My son’s does, his arms are long and thin and his skin is soft, his legs are soft too but you can see his muscle definition in his calf which to me is a good sign.  One thing I did notice is that his skin is really soft but is not stretchy like I read about Ehlers Danlos Syndrome and he is not as flexible as it indicates in pictures.  Just wondering, I know I probably shouldn’t be reading about stuff like this because I break my head thinking about what it could be my son has.

To: Athena_M and bettyboop400
I read that Hypotonia can be a genetic disorder…if it is, chances are I could have another child with it if either my husband or I have the gene, but that we don’t know….we haven’t had any testing done.  Did you all know that or am I wrong?

Well, I’ll keep you all posted and let me know what you think…I know it’s long, sorry!

Thanks for your feedback!
Nettie

[bettyboop400]

sorry i forgot to mention the GP's are questioning autism and dyspraxia even though i can see it with my own eyes im still waiting for them to give me a diagnosis

[bettyboop400]

mty son has hypomobility im not sure if its the same as hypotonia?.  hes nearlly 5 now and still waiting for a formal diganosis.  i know he has global developmental delay he didnt walk till he was 19mths and he still doesnt speak all that well, we use makaton to communicate.  it would be nice to hear others mothers veiws on this as i feel so alone, no help from doctors or any specialists.

Nettie103:  i have also got a 2 year old son and he has no problems whatsoever and were trying for another even though you can never be to certain on how its going to go life goes on around autism and all others conditions try not to be too worried

thanks
bethan

[Athena_M]

Hi,

My son's genetic doctor finally e-mailed me back about his hypotonia.  This is what she said,

1. An underlying etiology for the hypotonia.  No definite etiology for the hypotonia has been found. There was low carnitine, for which I asked the opinion of metabolic clinic on treatment. They did not recommend treatment with carnitine  because oral carnitine tends to increase stomach upset and increased vomiting.The exam for ehlers danlos syndrome did not meet the criteria, but there is a category of benign hypermobility which can have some hypotonia. The range is wide and there is no specific treatment.The rest of the testing is normal by the currently available tests, including mitochondrial tests.

I had to look up most of the stuff she wrote because I didn't understand some of the terminologyh.  

I'm glad you told me about the MRI being normal hopefully my son's will be normal too.  

My son was developmentally delayed in his walking.  He didn't walk until he was 20 months.  It was so hard for me and my husband we thought he would never walk.  

His GI doctor thinks it might be GERD because the medicine works for him.  We met with two GI doctors the first one didn't figure things out right and the second one did.  At first he was taking over the counter Pepcid but the flavor was making him gag now he takes a pill everynight.  He is able to swallow the pill.  

What foods are hard for your son to eat?

At first the genetic doctor found out he was low in carnitine, then we had to go to a metabolic doctor  who found nothing wrong.  Then the GI doctor was recommending he drink Whey protein shakes to gain weight but he didn't like any of the flavors.  

It' s been really hard because I don't know if there is something that is bigger that could be wrong and the doctors can't really find anything.  Then I worry that maybe something else will come up as he gets older.

Thank you for writing to me.  

Don't be scared of having another baby with hypotonia.  The genetics doctor said it was a really low probability of having another baby with it.  I don't remember the exact percentage, when I find the paper I will let you know, but she said it is not something that usually carries over into other children born.  My daughter is 2 months and she  definitely does not have hypotonia.  My husband mentioned that to one of the doctors that her muscles feel stronger.  

Hope all this makes sense.  

Is your son on the autism spectrum?  

Hugs
Athena

[nettie103]

Thanks for your post.  Yes I will gladly keep you updated...and please do keep me posted on your end.  If you don't mind me asking....did your son meet all his milestone when growing up?  I've been told kids with hypotonia have a hard time meeting their milestones at the proper age.  My son did meet all his milestones....we didn't even know about his hypotonia until this year.  And it all started because of his eating.  Turns out he has mild oral disphagia....he has a hard time chewing harder foods but according to the therapist he is very functional.  

I understand your pain...I do alot of crying as well.  It's is very overwhelming for me especially not knowing what to expect for my first and only child.  Even more scarier to think about having a nother one.

How did the doctors figure out that your son needed Prilosec for his stomach acid, does he have GERD?  I always talked to my son's doctor about my concern regarding his eating and at a point in time she thought it could be GERD but he's never been tested for it.  My son doesn't have the vomiting when dehydrated but what I have noticed is that he gets motion sickness kind of easy.  If we are out in the street for a while he tends to throw up...maybe it's related to the same thing they told you about your son (dehydration and his stomach mscles contracting) and I did't even know.

My son has had an EEG done twice and had an MRI at the beginning of this year and they all came back normal.  So I'm not sure what all is visible in the MRI because my son does have Hypotonia but nothing unusual came up in his tests.  His genetic testing is not scheduled until January of 2011 but my son's doctor is working on finding another clinic to get it done sooner...as soon as we find something out I'll let you know.  Please keep me posted!

[Athena_M]

My 5 year old son got the diagnosis of hypotonia too.  He has high functioning autism.  We have seen a genetics doctor and a neurologist about the hypotonia.  I asked the question if there is an underlying cause to the neurologist and he said to find out from the genetics doctor.  I still have not heard anything back from the genetics doctor.  

My son had 4 hospitalizations from dehydration from vomitting.  He is now taking Prilosec daily to reduce the stomach acid and he takes Zofran to stop the vomitting.  The genetics doctor said it might be related to the muscles in his stomach contracting when he gets a tiny bit dehydrated.  His GI doctor said he might need an MRI of his brain because of the hypotonia.  I'm still waiting to hear back from all the doctors.

It has been extremely painful as a mom (lots of crying).  I will let you know what we hear back.  Will you let me know if you find out anything about an underlying cause for your son?  

[KarenDiane]

Low muscle tone is very, very common in all of the autism disorders.