Rett Syndrome and Apraxia

We went to the Rett conference two weeks ago in Midway, UT. I'll talk about the conference in general in another post, but one of the recurring trends that I picked up on was actually an eye-opener for me. Multiple presenters and some of the parents I spoke with talked about "apraxia", which was a term I probably should have known already but didn't (I blame it on the fact that it's currently missing from the Wikipedia article on Rett).

Apraxia is a stubborn body that refuses to listen to a willing brain.

Apraxia means a failure to carry out purposeful movements that a person is actually capable of performing. It's not the same thing as ataxia, which is an inability to perform purposeful movements at all, typically because of a neurological disfunction. With ataxia there's not even the ability to move on purpose, but with apraxia there's the ability, but something is jamming the signals along the way. Our neurologist used the word "ataxia" a lot when first diagnosing Becca, but "apraxia" was a new one on me.

If you do a search for "Rett apraxia" some of the first results that pop up are by Linda Burkhart talking about just how much of an impact apraxia has on girls with Rett. You'll also see comments from Boston Children's Hospital, National Institutes of Health, etc. calling apraxia "one of the most disabling characteristics of Rett".  Linda's tone very closely resembles Judy Lariviere and Pati King-DeBaun who presented at the Rett conference (so much so that I thought Linda was Judy when I first found her web site). Linda (and the others) talk a lot about how apraxia in Rett girls is made worse by demanding or asking for a specific action, which leads to problems with assessment in school (since testing is almost always done in a "now show me you can do this" manner). In other words, if you ask a girl with Rett to stick out her tongue she probably won't do it even though she may be perfectly capable of sticking out her tongue when she wants to.

Probably an easy way to understand apraxia in somebody like Becca is to think of Becca's body as a defiant teenager and Becca's brain as the teenager's mom. The teenager is perfectly capable of taking out the trash, but as soon as mom says "Johnny, take out the trash already! You're killing me!" then it's a contest of wills and Johnny does everything in his power not to take out the trash -- at the very least not right at that moment. That's what's going on with apraxia, sometimes the action just takes a lot longer than it should or than it normally does, and sometimes it just doesn't happen at all. And demanding action only makes the problem worse. In the case of Rett it appears to have to do with the neurological characteristics of the disorder gumming up the brain-to-body communication somehow.

"Don't talk back"

If she doesn't think too hard about it, Becca has enough gross motor control right now to reach out and hit her toy piano or knock over my glass of water (and subsequently get a huge smile on her face). But if I ask her to look directly at something, or to hit a specific button on purpose, that's a *lot* harder for Becca. Here's a video from Becca's second birthday where you can see just how much Becca wants to eat a cupcake, but her body just isn't doing the things it's supposed to to get it to her mouth -- though when she would play on the ground Becca was totally able to grab toys and bring them straight to her mouth.

Even in the couple weeks since the Rett conference I've been changing the way I ask Becca questions or try to get her to express herself and I feel like it's helped. I don't ask her to look directly at things, I let her know that things are there and that she has the option to look at them, but I don't demand action. I don't have hard data but it feels like she's making eye contact more this way than she did before.

It was also a really good reminder to me that when Becca is being "stubborn", it may be just her body that's being that way. Becca has been pretty sick the last few weeks and whenever she gets bad she gets a ton of gunk in the back of her throat. She'll cough it forward, but then she doesn't swallow or anything and so it settles right back where it was before. This drives me nuts, and I find myself saying "Becca, you need to swallow" over and over again until I start to get really frustrated. Meanwhile Becca just looks at me like "what do you want me to do?" Pretty sure that, at least to a degree, that's her apraxia kicking in in full force. I need to do a better job keeping apraxia in mind as a factor when Becca isn't doing what I want her to be doing. I still think she can just be stubborn at times -- just like any other kid -- but it's not always because of a defiant personality.

The comments I heard at the conference made it sounds like apraxia most often rears its head as a major problem in school settings -- which I guess makes sense. Girls with Rett get labelled with behavior problems because the teacher or therapist has seen the girl perform certain actions, but they refuse to perform then on demand. Then they fail tests and get labelled as not progressing.

I can see that becoming a problem for us. When I look at Becca's existing IEPs it's about performing a specific action on demand on multiple attempts throughout the year. Things like locking eye gaze on a specific target when requested. That's obviously not going to work, and honestly it hasn't in the past (Becca's "grades" have typically been around 60%). We're going to have to be careful the way we word IEPs going forward to make sure the assessments are happening in ways that will actually allow Becca to be successful.