Tag Archives: Austin

Down Syndrome and Apraxia – New Changes in Diagnosis

Last year Noah’s (10-Down syndrome and apraxia) speech therapist sent me an email with a link to a study that had documented apraxia in the Down syndrome population.  You can see that study here:


That email was huge for me for two reasons:  Number one, it confirmed what I have known for YEARS, that apraxia is a very real issue for many kids with Down syndrome, Noah being one of them; and, two, it confirmed for me that Noah’s speech therapist is mindful of Noah’s specific issues and is more concerned about helping Noah than he is about being in the right or being politically correct.  (Yes, in the world of speech therapy, there is a political correctness based on going with the flow of state and national organizations).

Libby Kumin, the unparalleled expert on speech issues in people with Down syndrome, has taught for years that apraxia and Down syndrome can and often do co-exist.  In one of her articles, she states a belief that about 15% of kids with Down syndrome also have apraxia.    My belief is that in the population of children with Down syndrome who are not showing significant progress with traditional speech therapy, that number goes up to 50 or 60 percent.  That’s a lot of folks who historically have been told, “We don’t treat people with Down syndrome for apraxia because a dual diagnosis of those two things does not exist.”  At the very most, people historically have been told, “We’ll treat the symptoms as they come, but apraxia protocol is not appropriate for people with Down syndrome.”

For a thorough discussion on apraxia and Kumin’s research and experience with people with Down syndrome and associated apraxia, please read:  https://www.down-syndrome.org/reports/301/reports-301.pdf

At this point, some of you may know exactly what I’m talking about; for the other 98%, please let me explain.

Oral motor skills is a term relating to the strength and movement of oral facial muscles, especially the movements related to speech.

Oral motor planning skills (planning is the key word here) refers enable the speaker to combine and sequence sounds into words, phrases and sentences. Difficulty with oral motor planning skills is referred to as childhood verbal apraxia.

Let’s face it – for the majority of our loved ones with Down syndrome, intelligible speech is a huge issue.  Most children with Down syndrome are heavily invested in speech therapy as young children but leave it behind as they enter the middle elementary grades.  Unfortunately, few kids with Down syndrome leave speech therapy because they don’t need it anymore; most of them leave because they either appear to plateau or the cost seems to outweigh the benefit.  I am not alone in assuming that at some point, Noah’s speech is going to get as good as it can be, and he will still have a very difficult time being understood.

My obsession with apraxia is two-fold:

  1.  I want to be sure that Noah’s speech issues have as specific of a diagnosis as possible because I know, especially with apraxia, an accurate diagnosis results in accurate targeted treatment.
  2. I want to know that if and when Noah does plateau in speech, his stopping point will be as high as is possible for him.  I do not want a single misunderstood word to be due to a treatment we didn’t get for him or a piece of his Down syndrome puzzle that we did not address.

(I use the term “plateau loosely:  I strongly believe that people with Down syndrome who continue to be challenged and supported in their speech (and other) efforts will grow in their abilities and retain their progress much better than those written off as having reached a point of no further progress.)

In the following weeks, I will be exploring verbal apraxia, aka childhood apraxia of speech, or dyspraxia one bite at a time.  Would love to hear y’all (sorry, we’re smack in the heart of Texas in the beautiful Hill Country) chime in with questions or your experiences with Down syndrome and speech therapy!



Andres Update – Chiari 1 Malformation

Okay, as of today, it’s officially a Chiari 1.5 malformation.  Apparently that means it’s 1 . . . and then some.  I’m just going to cut and paste the letter I sent out to family today with a few minor additions:

Yes, another update.

Today was Andres’ much-awaited appointment with the neurosurgeon. We met with Dr. Timothy George this morning at Dell Children’s Hospital. Dr. George spent well over an hour talking with and assessing Andres, reviewing the MRIs in minute detail with Andrew, Andres and myself, and explaining the surgery he feels is appropriate for Andres. He showed us on the MRIs where the defect in Andres’ brain is, the bony structures which have contributed to it, the syrinx in the C-spine, the bones, the fatty layer beneath the skin, the marrow, the different regions of Andres’ brain (all normal except the cerebellum), and the totally normal lower spine (praise God)!!!! He must have spent 30 minutes alone showing us and explaining the MRIs.
So, yes, it looks like Andres will be having surgery, probably sometime this summer or early fall. He will have a CT scan which will show Dr. George whether Andres needs to have his spine stabilized as well as have the Chiari decompression surgery (surgery on the skull to enlarge it which will lead to more space and less pressure for Andres’ brain). The hope is that the surgery will cause the syrinx to resolve, since it is the presence of the Chiari that caused the syrinx in the first place. Dr. George says this is a relatively low-risk surgery, since the focus will be on the bones of the skull versus the brain itself. He expects Andres will be in the hospital 3-4 days and the surgery will be about one hour.
We did have lots of good news today, the best being that we have found a neurosurgeon who happens to have been researching Chiari for 20+ years (thank you, Lord, for putting him at Dell Children’s Hospital and having several people in my sphere of influence drop his name). Also, Dr. George feels that Andres does have a symptomatic Chiari 1.5 malformation. Now, I had never heard of a 1.5, it’s kind of an informal step up from a Chiari 1, and it has to do with the fact that Andres’ Chiari is large and extends past a certain point and is symptomatic (I think). He feels that with intervention now, Andres will have NO limitations (other than playing football and boxing, which Dr. George says he recommends avoiding for ALL children :). Andres also passed the neurological exam, so we are still certain no neurological damage has occurred.
Next step? CT scan and then a neuropsychiatric evaluation to extensively assess any processing, memory or learning difficulties and also to give us a baseline for pre-surgery. I visited with a physical therapist a couple weeks ago who recommended this step, and Dr. George agreed it was appropriate. The results of this will not only help us understand some of the possible effects of the Chiari, but it will also help me homeschool him more compassionately and effectively. He has always been a good student, but I suspect he has some memory and processing issues that will show up on testing.  Dr. George said he could not for sure say that these are related to the Chiari, but they may be, and they may improve after surgery . . . or they may not.  We agreed if they resolve, he gets full credit, if they don’t, he had nothing to do with it.  🙂   Yes, the good doctor has a great sense of humor but was also appropriately serious when we started talking about surgery.
Andrew took off the day from work, so he was able to attend the appointment with us. We are in agreement that Dr. George is the right surgeon for Andres. What a priviledge to be able to walk through this day together.
We thank each and every one of you for walking alongside us, and we appreciate your prayers. We will keep you updated. Andres’ next appointment is in late July, and they would like us to wait until then to get the CT scan so it is up to date. It is quite possible that the July appointment will be considered his pre-op appointment.

Update on Andres – Good News

We took Andres to the ophthalmologist yesterday and received some very encouraging news.  The blurring of his optic disc margins are an isolated finding, they are just shaped a little differently than normal, but it looks to be congenital and harmless.  The concern was that it could be an indication of intracranial pressure, but the ophthalmologist did not see the other signs that would be present if there was an increased pressure.

He did confirm that Andres is a little bit colorblind, but he told us that since my father is a little colorblind, it is almost certain that this is congenital as well and not a symptom of the Chiari.

As for the 5-day headache a couple weeks ago, Trinity came down with something very similar where her glands were affected, so it makes sense that that is what Andres had and the pain in the back of his head and neck was associated to swollen glands.

So it’s all good news, and at least for now it seems the Chiari is not causing Andres any issues.  It is likely that the headaches are migraine in nature, which is not so good, but at least it’s not anything that looks like brain surgery.

Incidentally, I must say the pediatric ophthalmologist (Dr. O.B. Jackson, Austin, Texas) was one of the kindest and most attentive doctors I’ve met.  He gave Andres a VERY thorough exam and was not the least bit hurried with us.  He listened to my questions and concerns and addressed them head on, which I have found to be rare.  His assistant was wonderful as well.  Although there were other people in the waiting room (which I consider to be a good thing – it means he has a following), there was a minimal wait.   I highly recommend him to anyone in the area, and he also has a clinic in San Angelo and Odessa http://pedieyedoc.com/index.html.