Hypotonia?

[Puppmom]

Does anyone have any experience with Hypotonia? My niece was diagnosed with Hypotonia at about one year old. At that time, she hadn’t learned to crawl or sit up on her own which was alarming to my sister. She was diagnosed with Hypotonia after seeing several specialists who confirmed she had no other delays or neurological issues. I don’t see them often as they live across the country but have heard that she’s been making great progress with occupational and physical therapy. She’s now 2.5 years old and they are in town visiting. She’s now crawling, sitting on her own and drinking from a cup herself…yay! I’m worried though because her social responses are more like that of a 9 month – 1 year old. She’s almost completely non-verbal – communicating almost exclusively with squealing and laughing, screaming, grunting and pointing. Her responses are also not necessarily appropriate for the situation – as in it’s truly hard to gauge whether she’s enjoying something or not – her giggle is almost like a tick. It’s seriously constant if she’s not totally distracted. Also, the smallest things result in total screaming meltdown which I guess comes from the frustration of not being able to communicate verbally. When you address her, she sometimes doesn’t even make eye contact or blink or pause. She doesn’t pretend and sort of plays with all toys the same way – she drags them around and bangs on them and throws them whether it’s a baby doll, a rattle, a block etc. The only thing she knows how to “use” the right way is a book – she will turn the pages and look with intrigue (so cute!). I do realize that spending only a few days with her doesn’t really paint the whole picture but I think I may be noticing a lot as an outsider that they may be overlooking.

Anyway, I’m concerned because my sister is convinced she’s “fine” except for her motor skills. I don’t blame her because she was told not to worry about the speech delay and she’s so overwhelmed by the fact that her 2.5YO isn’t walking that she really focuses on the physical aspects of her developmental delays.

The reason I’m posting to see if anyone has experience with Hypotonia and knows whether or not verbal and social delays are commonly paired with it. I’m having a hard time finding anything on the internet.

I certainly don’t want to alarm my sister as they already feel bad and guilty about my niece’s delays but would like to be able to point her in the right direction if there is indeed a link.

 

[Hudson_Hawk]

I''m so sorry, that must be quite a struggle. I have no experience with the condition pupp. Is she in any sort of early intervention program?

 

[elrohwen]

From what I understand, hypotonia is more a symptom of a condition than an actual condition itself and can be caused by a wide range of different things (with Downs being most common). I think you would need to know what her primary underlying condition is to know if social or other developmental delays will present themselves, but I would say that her current symptoms are not good. Being almost totally non-verbal, no eye contact, etc are common signs of other developmental disorders (and I would argue that she already sounds delayed to be so non-verbal at 2.5 years old).

I would suggest to your sister that she see a specialist who can get to the bottom of this and recommend some good early intervention. I think your instincts are right that there is more wrong beyond the physical delays and early intervention is key in managing these things.

Best wishes to you, yours sister, and your niece.

 

[DivaDiamond007]

Pupp - My boss'' daughter has hypotonia and also has speech/social delays. She was diagnosed early and has been in agressive therapy for a long time. She can finally walk with braces on her legs but is still speech delayed. I can''t remember how old she is right at the moment, but I think she''s around 4. I don''t know much else about it though. I am sorry that your sister is going through this.

 

[Puppmom]

Thanks guys! I''m going to keep researching and see what I can find. My niece sees a PT and OT 2x per week which is great. They ran out of insurance coverage but applied through the state for an IUP of sorts so now she gets the same services through the state. Unfortunately, the quality of the care has declined greatly since the transition to the state providers. What''s crazy to me is that neither the PT or OT seem concerned about the other delays. Independent of the care givers, my sister and her DH have taught my niece some sign language which has reduced her tantrums in some instances.

 

[LtlFirecracker]

Any kid with >1 delay needs a full evaluation. A child with an abnormal neurological exam and developmental delay should get a full workup from a specialist in my opinion. My "final exam" during residency was a case of hypotonia and developmental delay. The list of possibilities was so long I almost panicked when I saw it. This would be the type of thing that the internet really won''t help with.

When your motor skills are delayed, you are at risk for having delay in other areas. Babies develop by interacting with their environment, and if they can''t move, than they can''t interact and explore as much as other kids their age. But reading your case, I think there is more going on than just that.

However, this is a very sensitive topic to handle. My future sister in law has a 17 mo old who cannot walk and only has 2 words. I expressed my concerns about him at 8 months and she blew me off. When he turned 1 and still was just pulling to a stand and had no words, I said something to my FI''s mother, who blew me off. I was going crazy, and my FI told me to keep my mouth shut because I would "offend" everyone. Well, he just got into early intervention about a month ago. My FI still tells me "it is just a little developmental delay and he will be fine." People have a very hard time accepting that something can really be wrong, and often go into denial about the issue. The sad thing is that as of now, early intervention is the best hope for many of these children, because that is when the brain is undergoing the most rapid development. Waiting to see if they will "grow out of it" is really not the best thing for the child.

I am sorry you are having to go though this, I know it is really a difficult situation to be in.

 

[softly softly]

Date: 2/6/2010 11:41:38 PM
Author: LtlFirecracker
Any kid with >1 delay needs a full evaluation. A child with an abnormal neurological exam and developmental delay should get a full workup from a specialist in my opinion. My 'final exam' during residency was a case of hypotonia and developmental delay. The list of possibilities was so long I almost panicked when I saw it. This would be the type of thing that the internet really won't help with.


When your motor skills are delayed, you are at risk for having delay in other areas. Babies develop by interacting with their environment, and if they can't move, than they can't interact and explore as much as other kids their age. But reading your case, I think there is more going on than just that.


However, this is a very sensitive topic to handle. My future sister in law has a 17 mo old who cannot walk and only has 2 words. I expressed my concerns about him at 8 months and she blew me off. When he turned 1 and still was just pulling to a stand and had no words, I said something to my FI's mother, who blew me off. I was going crazy, and my FI told me to keep my mouth shut because I would 'offend' everyone. Well, he just got into early intervention about a month ago. My FI still tells me 'it is just a little developmental delay and he will be fine.' People have a very hard time accepting that something can really be wrong, and often go into denial about the issue. The sad thing is that as of now, early intervention is the best hope for many of these children, because that is when the brain is undergoing the most rapid development. Waiting to see if they will 'grow out of it' is really not the best thing for the child.


I am sorry you are having to go though this, I know it is really a difficult situation to be in.

Just out of interest LtlFirecracker, does a child need to present with more than one developmental delay to require further evaluation, or are some developmental delays of more concern than others? I ask because my son was did not walk until he was 21 months, which had us very concerned but every time I mentioned this concern to the Child Health Nurse (who monitor early childhood development here in Australia) I kept getting told not to worry because because everything else appeared to be on track. It took until he was 19 months to get a referral for further assessment, and while we were waiting to be seen he started walking of his own accord. As far as I can tell his refusal to walk has not left any lasting legacy - in fact I've often thought that his extended time spent crawling probably benefited his left/right brain development, but it pains me to think that his late walking could have been indicative of a bigger problem which was not being identified by the professionals I was seeing.

My husband's niece is 2.5 and is yet to start talking. She has no words and does not make any babbling sounds. The only noises I have ever heard her make are screams or laughter. Again it does not appear that my BIL and his wife have been encouraged to seek out further assessment with any sort of urgency, which seems odd to me. They did have her on the waiting list for the Sate-run paediatric speech pathology service, but were happy to get shunted to the back of the waiting list because the appointment they were given clashed with a trip they had planned.

 

[LtlFirecracker]

Here is the way that I approach a toddler with delays.

If they have one delay, and a normal physical exam (no features suggestive of a syndrome, normal neurological exam) than I would enroll them into early intervention to deal with that one delay. So if their gross motor skills were behind, I would get them into PT. They would not need a further workup from a specialist. The only exception to that is if they they have social delays...than autism comes into the picture.

If a child has an isolated speech delay (the most common thing I see) I always get their hearing checked and start speech therapy ASAP, I try to identify them by 18 months and get them enrolled before age 2. In the US, early intervention goes until age three, and it is very difficult for me to get good therapy when they are older. I personally do approach speech with a little more urgency than the motor delays because at this age, there is a relationship between speech development and how they will do later in school.

If a child has more than one delay, I refer them for a full evaluation and enroll them into early intervention. At that point you want to find out if there is anything else wrong with the child. Do they have a genetic syndrome? Were they exposed to something in utero? Most of the time the work up is negative, but it is still worth a look.

I hope your niece gets some therapy soon!! I am sorry you are having to watch this go on, it can be very frustrating to see a kid who needs help not get it.

 

[Puppmom]

So I talked to my sister a bit more and turns out my niece DOES have a speech therapist but she''s kind of stinky.

When my niece gets upset she stops and this is also the therapist she sees the least. From my perspective, communication is the single most important skill. I would probably focus more on that than the fact that she isn''t walking. She IS mobile since she can crawl and pull up. My husband works in an environment with a lot of apraxic children and it''s AMAZING what a good speech therapist can do!

Also, she''s ONLY been diagnosed with Hypotonia. It''s interesting to hear that other delays can be related to motor skill delays because it limits her interaction with other children. It seems that now that the state is involved, my sister doesn''t get to choose her therapists as she was able to while this was covered under insurance.

Another interesting thing that I found it is that there were lots of early signs that the doctors missed even when brought to their attention. My niece was full term but just over 5 pounds (but 21 inches!) and her feet were extended all the way back so that her toes were touching her shins. The doctors did *notice* this but just gave my sister some exercises to do to pull her feet down into a relaxed position. They also noticed that she was a bit "floppy" at her 6 month appointment but again said this could be normal.

I think I''m just going to try to be supportive and interject my $.02 when the opportunity arises. The last thing I want to do is say "Hey, something''s not right here. There''s a lot going on besides the fact that niece can''t walk." That''s the reality of the situation but I think I''m going to have to come up with a more sensitive way to approach it. I think that my sister and BIL probably know on some level that things aren''t quite right.

Thank you all for your kind words and knowledge!

Firecracker, your job sounds so interesting. It must feel good to be able to help children before they get to school!