Apraxia/VPI/Submucous cleft...which is it???

[2boyzmama]

Okay...I just wrote a LONG post about Connor's eval at the Apraxia team today, but it dumped I don't think I have it in me to write up another long one (lucky you!). So, here's the gist:

We've assumed all along, based on some subtle clinical signs (for example, nasopharyngeal backflow, inability to make certain vowel or consonant signs, a bifid uvula with movement of the palate) and his underlying diagnosis (22q) that he has a submucous cleft palate and VPI (both are some of the most common symptoms of the syndrome). But he's been somewhat atypical in his presentation (for example, he can blow bubbles, and his uvula is not obviously bifid) and he has also shown some signs of apraxia, even though Dr Shprintzen's (renowned expert in 22q) published research says that apraxia is a misdiagnosis in 22q kids.

So we went for an eval by the head of Speech Pathology at Cinci Children's. Bottom line is she is almost 100% positive that he DOES have apraxia and does NOT have a submucous cleft or VPI. And he cooperated perfectly for her, so it was a very good eval.

So now I'm more confused than ever, and I have a lot of reading to do! I'm frustrated that he has a "common" genetic syndrome, yet seems to be presenting so atypically. I'm frustrated because I don't know whether he's seeing the right specialists, getting the right therapy, etc. I'm frustrated because I don't know what his prognosis is (if it was VPI/submucous cleft, then we'd know that it was "fixable" through surgery and articulation therapy; but now apraxia is a whole 'nother beast and I need to re-set my thinking).

I have lots of papers and pamphlets she gave me, and you know I"ll be hitting up google all night long. The good news is that we've already implemented ASL with him, so he's got a huge leg up in his expressive communication.

[AndVeeGeeMakes3]

big hugs.

One of the first things out of the geneticist's mouth the other day was that 22q has no normal. That is crummy, but, also, if you think about it, just like any other kid. I would think that apraxia would be a preferable alternative to VPI because it has some possible therapeutic (i.e. non-surgical) ends, and can be managed with speech therapy (I know there is debate about that.).

But, I'm sorry, because I know you're an information hound, and this has got to be so frustrating for you.

[khaoskat]

Ok, I can help with the Speech Apraxia part, as that was our initial diagnosis and have been working with that since DS2 was 27 months. We are now working more on articulation, as he is speaking but has a lot of common errors. He also has a lot of issues with the apraxia still, in that outside of normal conversation he generally cannot express himself. And sometimes he still has issues in normal conversation getting out the word he is looking for (like he will be sitting there thinking and going umm...umm...umm...and then he will give more of a definition/example of the word he is looking for vs the word).

The first year or two of therapy focused on him learning to at least attempt to say words. It was a lot of "play" therapy, in that they would sit in the room with him with toys and games. One of the favorites was the Busy Ball Popper. His ST would take all the balls, and then visually get his attention, and show him the ball and say the word ball when he was watching her lips. Any attempt he made at first to communicate would get him the ball to put into the popper. Once he got all 5 of the balls they would let him hit the button to send them popping and attempt to catch them, and the ST would take all 5 of the balls again, and work on it.

The next step, once he started at last trying to say words was visually cuing him. So, for instance, they were working on the "p" sound. They would still do the "play" therapy and would work a lot with bubbles. She would blow bubbles and get his attention and visually cue the "p" sound which was like the first finger on the lip and then pull it away and point upwards. This would get him to at first close his lips (to get the lip pucker), then when he pulled away, blow the air out or puff it out between his lips. Then they would say "pop" and pop the bubbles.

Then they worked on trying to expand his vocabulary after he got the basic sounds. They would show flash cards and try to get him to put the sounds together... like "mom", "dad", "duck". They were not focused so much on the proper pronounciation, so much as at least getting the phonetic awareness/sound out of it.

Now we have progressed to working on perfecting the sound, getting all the letters in the words, basically articulation errors.

[2boyzmama]

Originally Posted by AndVeeGeeMakes3

big hugs.

One of the first things out of the geneticist's mouth the other day was that 22q has no normal. That is crummy, but, also, if you think about it, just like any other kid. I would think that apraxia would be a preferable alternative to VPI because it has some possible therapeutic (i.e. non-surgical) ends, and can be managed with speech therapy (I know there is debate about that.).

But, I'm sorry, because I know you're an information hound, and this has got to be so frustrating for you.

I know, I know that the variance within the syndrome is wide. I called the genetics counselor that diagnosed him, and she and I chatted for a while. She said that if it hadn't been for my vigilance and "pushiness" Connor probably wouldn't have even gotten genetic testing yet, not until his speech issues became more pronounced. She said that the threshold for testing used to be so much higher. And before the microarray, the geneticists had to know what they were looking for; so basically she was saying something like "be thankful he has a diagnosis at all, you could still be in diagnosis seeking land."

And this is probably very naive of me, but I wish, just once, that he would have something "fixable". You know? He has hearing loss...we can't aid him. He has digestive issues/poor growth...we can't supplement him with anything. He has an immune dysfunction...not the type that can be corrected. He has pulmonary issues...we can't "fix" them. He has a speech issue now...we can't "fix" it! If it was VPI, at least it had the chance of being "fixable". Granted, a surgery, but something concrete we could try, you know? Instead we're stuck in the wishy-washy land of therapies that no two drs seem to agree on.

And Connor and I are just along for the ride, you know?

Sigh. I'm just feeling kinda depressed and "woe is me" right now.

Originally Posted by khaoskat

Ok, I can help with the Speech Apraxia part, as that was our initial diagnosis and have been working with that since DS2 was 27 months. We are now working more on articulation, as he is speaking but has a lot of common errors. He also has a lot of issues with the apraxia still, in that outside of normal conversation he generally cannot express himself. And sometimes he still has issues in normal conversation getting out the word he is looking for (like he will be sitting there thinking and going umm...umm...umm...and then he will give more of a definition/example of the word he is looking for vs the word).

The first year or two of therapy focused on him learning to at least attempt to say words. It was a lot of "play" therapy, in that they would sit in the room with him with toys and games. One of the favorites was the Busy Ball Popper. His ST would take all the balls, and then visually get his attention, and show him the ball and say the word ball when he was watching her lips. Any attempt he made at first to communicate would get him the ball to put into the popper. Once he got all 5 of the balls they would let him hit the button to send them popping and attempt to catch them, and the ST would take all 5 of the balls again, and work on it.

The next step, once he started at last trying to say words was visually cuing him. So, for instance, they were working on the "p" sound. They would still do the "play" therapy and would work a lot with bubbles. She would blow bubbles and get his attention and visually cue the "p" sound which was like the first finger on the lip and then pull it away and point upwards. This would get him to at first close his lips (to get the lip pucker), then when he pulled away, blow the air out or puff it out between his lips. Then they would say "pop" and pop the bubbles.

Then they worked on trying to expand his vocabulary after he got the basic sounds. They would show flash cards and try to get him to put the sounds together... like "mom", "dad", "duck". They were not focused so much on the proper pronounciation, so much as at least getting the phonetic awareness/sound out of it.

Now we have progressed to working on perfecting the sound, getting all the letters in the words, basically articulation errors.

Connor is already attempting words and has been working on cueing his sounds. He does pretty well with single words if they are "fed" to him: "Connor say 'I', say 'want', say 'more', say 'milk', say 'please'." He will say all of those words, one at a time. But if he tries to string the sentence together on his own, it will sound like "a wa ma MA puh..s" with no obvious break between words, and only the beginning consonant being correct. He'll usually get the end sound of the last word in the sentence too, like in this example, he'll add the 's' to the end of his attempt at 'please'.

[khaoskat]

Those sound like h is doing really well then for his stage. I think Aidan may have been a bit ahead in that he would some spontaneous sentence attemps at the same age.

Cannot remember when Connor started private ST, but we didn't start until 27 months and had a function of a 8-14 month old level. His EI teacher was a bit worried DPS would deny him, since he was only delayed in one area and it has to be a huge delay in just one area. But, they had already told me he qualified the day we walked out of the MFE assessment he was still that bad.

I know he still has a long ways to go, and his speech brings on other issues, behavioral generally, but he has come so far in the 3 years we have been working on it. It comes in leaps and bounds. You get to the point you don't feel like progress is being made and what is the point, then all of a sudden there is a huge change.

It sounds like they are working on the apraxia all along even if he was never diagnosed with it. Generally the ST is about the same from what I have read, but some places recommend a more intense than a once a week ST appointment - but good luck with that in our area as there is not enough supply and too much demand.

[2boyzmama]

He started in EIS at 9 months old, started in ST at URS at 20-ish?? months, started PACE 4 days a week at 28 months old, switched to ST at Dayton Children's at 30 months old.

So far behavior isn't too bad, I think him having such a large signing vocabulary is a big part of that.

[khaoskat]

Originally Posted by 2boyzmama

He started in EIS at 9 months old, started in ST at URS at 20-ish?? months, started PACE 4 days a week at 28 months old, switched to ST at Dayton Children's at 30 months old.

So far behavior isn't too bad, I think him having such a large signing vocabulary is a big part of that.

So for speech he started about 6-7 months before Aidan did. But it sounds like he is attempting to what I would call at least "babble", and if I am not mistaken, we were there, and had maybe a few clear words if used outside of a "babble sentence".

There is a yahoogroups devoted entirely to speech apraxia in children. But, from what I have read/heard speech apraxia is "treatable" to some degree through speech therapy. There is no surgery, medications, etc, that are going to cure him, but with lots of working from parents and ST and school ST he can come a long way.

We have ST at CMC on Thursdays right now. We started there late June, early July 2007. We are currently on our third ST, they do change them about once a year. I really think his newest therapist is working the best with him. He is more resistant to going because he doesn't want to do the work, but she has made it from "games" to doing things like helping her "shop" or doing computer related ST programs, and that has helped with his reluctance some now too.

[momtoalexsarah]

The level to which the VPI and clefting is fixable is not perfect, and YES apraxia happens. Megan has Apraxia - that has always been clear as soon as she started to make letter sounds. Megan has no clinicly detectable VPI anymore and is capable of making 40 of the 46 sounds in the english lanuage. In general speech she uses 30, to start words she uses 15 - even though she will use the other 15 in the words.
The word "tent" she will say "ent" - with a good "T" on the end. She simply can't say the "T" on the front.
With Megan we are making using an apraxia program now and despite her behavural issues durring ST she is making progress. In the last 6 months she is putting 'S" and 'F" on the front of words but it has taken a year to get there. The apraxia program is working, but the nerves (which convey the messeages and instructions back and forth) have to regrow and regenerate and be retrained ect after they were cut durring surgury.

[khaoskat]

In our case no one knows what caused Aidan's apraxia. He still has a long way to go, but he has made wonderful progress in the almost 3 years he has been in ST.

We should find out in the next few weeks if he will maintain his school services for his IEP, or not. And also what other services he may or may not need.