CHARGE Syndrome: Sensory Processing

Chapters:

1. Introduction
2. CHARGE Syndrome and Proprioception
3. CHARGE Syndrome and the Vestibular Sense
4. Compensatory Behavior and Sensory Processing
5. Sensory Processing and Educational Implications

CHAPTER 1: Introduction

BROWN: If you look at books about sensory development and child development, they often show a hierarchy of senses and sensory development, and it's usually depicted as a triangle. And at the very top you have academic learning, and at the very bottom you have the senses.

But there are three senses at the very bottom level, the most fundamentally important ones. And they're touch, or the tactile sense, the vestibular sense, which is often called balance — although that's not really the correct term, but it's the vestibular sense — and the proprioceptive sense, which is often called the pressure sense. And, again, it's not totally appropriate.

Those three senses-- touch, proprioception, and vestibular-- are the foundation for the other senses of smell, taste, vision, and hearing, and then all the things that develop on from there, up to academic learning, usually in a school setting. In CHARGE, multi-sensory impairment is very common, and that involves all seven of those senses, not just the five conventional senses.

NARRATOR: In a photograph, a young boy with CHARGE sits at a table and plays with a number of brightly colored beads and shapes. The boy wears glasses, and his hearing aid is visible in his right ear.

BROWN: And there's great variety, of course, but often those three fundamental senses are missing, or damaged, or not working properly. We do know a bit about the tactile sense, and in the field of blindness and visual impairment we've been working for many, many centuries on touch and how we can develop touch, and what touch can be used for. But the vestibular and proprioceptive senses have tended to be overlooked.

I think when you say vestibular and proprioceptive senses, people look a little puzzled, and it needs to be explained. If you can explain it effectively — which I've been trying to do for 20 years, and I'm still working on it — people often go, "Oh, yes." Because, of course, they have these senses and they use them themselves. So they can relate to them. I call the vestibular sense and the proprioceptive sense the "forgotten senses" for that very reason.

We have them, we've developed them, we're using them nonstop all the time, but we don't know we are, and we don't know about them. And we probably didn't know what they were called or where they were located, or even what they did. So if we can get that message across to people about themselves and their own bodies, it helps them then relate to children with CHARGE and what kinds of problems they're having.

CHAPTER 2: CHARGE Syndrome and Proprioception

BROWN: Children with CHARGE tend to be at the low end of the muscle tone spectrum. So they tend to be floppy, if you like. And there are all sorts of reasons for that: lack of motivation, poor health, hospitalization, balance issues around the vestibular damage, visual impairment, and just a general lack of motivation to resist gravity. And, of course, vision tends to be the main spur for children to resist gravity.

It's how they know there's a world out there and they want to go get it. So if the muscle tone tends to be low, the proprioceptive messages are not going to get through very well. The receptors for this sense are based in the joints and the muscles all through the body. And they are triggered... the stimuli that trigger them are compression or pressure, stretching, and twisting.

So anything that compresses, or stretches, or twists is going to send proprioceptive information to the brain. And this is the sense that tells us all the time where all the parts of our body are, and what they're doing; what position they're in with regard to each other; whether they're moving or whether they're stationary.

NARRATOR: In a photograph, we see a very young girl with CHARGE crawling in an inflatable pool filled with brightly colored plastic balls. The balls surround her, and provide proprioceptive stimulation.

BROWN: It is a sense that develops because it's... I think in CHARGE, it's largely related to low muscle tone. If muscle tone increases, then it tends to improve. But we still see children, when they get very tired, or when they're stressed in an unfamiliar environment, or upset, they revert to looking for strong proprioceptive input. And I think it also is a self-regulatory behavior.

Deep pressure tends to be very calming, and light, light touch tends to be very arousing or exciting. So I've learned over the years, as an advisory teacher, when I advise deep pressure massage on children, I really labor the point because I'm used to getting a call from the teacher to say, "She absolutely hated it. We tried to do massage, and she freaked out."

What they've done is, because it's the first time, they've been very, very gentle so as not to be too intrusive. And, in fact, the kids just got completely overexcited, almost like tickling. So we're talking deep pressure, which tends to be calming, and get the kids much more centered. And I think that's what they're trying to do very often when they look for these things themselves.

CHAPTER 3: CHARGE Syndrome and the Vestibular Sense.

BROWN: Vestibular problems in CHARGE are compounded by other sensory problems like visual impairment and poor proprioception. But there are specific malformations and damage to do with the vestibular apparatus. The apparatus is based in the inner ear on both sides of the head, right next to the cochlea.

It's all very small, but it's very elaborate. And in people with CHARGE, a very high proportion... and I think the CHARGE Foundation, the last time I looked, they were saying something like 80% or even 85% of people with CHARGE are suspected of having some kind of vestibular malformation.

It tends to be the semicircular canals, which are one part of the vestibular apparatus. But sometimes it can be more extensive. It's... medically, it's identified by scanning the brain and then the inner ear. A CT scan will show the cochlea and the vestibular apparatus.

NARRATOR: We see a graphic illustration of the anatomy of the inner ear. On the right side of the illustration, we see the cochlea, a snail-shaped structure. Just above the cochlea are the three loops of the semicircular canals.

BROWN: The problem with the scan is it shows if the apparatus is there, but it doesn't give any idea whether it's working or not. And I know children who clearly don't have vestibular function who've had the scan, and it shows everything's perfect.

Well, it isn't perfect because it's not plugged in, if you like, for whatever reason. The prime function of the vestibular sense is to tell us about head position-- where our head is, what position it's in, whether it's moving or not. And if it is moving, what direction is it moving in? But it does all kinds of other things as well.

NARRATOR: In a photograph, we see a young boy with CHARGE who is on his back lying on a couch with his head hanging off the front in an upside down position. His trach tube and hearing aid are visible. Because his low muscle tone makes it difficult to hold his head steady in an upright position, he uses gravity to maintain his head in position, albeit upside down, while he orients himself to his surroundings.

BROWN: So it really has big implications for everything else. And, unfortunately, with CHARGE syndrome, lots of other things are not working as well. So it's very complicated trying to... it's like trying to trace the threads through a tapestry, and keep your eye on each separate thread when they're all woven together in a particular way.

CHAPTER 4: Compensatory Behavior and Sensory Processing

BROWN: I'm not an OT, I'm not a PT, I'm a teacher. I know I'm not trained in sensory integration therapy. I don't do sensory integration therapy, but I've learned a lot from the approach. And Jean Ayres helped me understand some very crucially important things about human development.

First of all, that the touch, proprioceptive, and vestibular senses are the foundation and what that actually means in terms of development. And secondly, she taught me the idea of sensory diet, which is that when a child self-stimulates, they're giving themselves a diet of sensory input. Just as when we eat, we're giving ourselves a nutritional diet, we do all kinds of things that are part of our sensory diet. And our self-stimulation is when the world around us is not giving us the sensory input our bodies need. So we do it for ourselves.

NARRATOR: In a series of two photographs, we see a young boy with CHARGE tossing handfuls of Styrofoam packing peanuts up over his head. He then reacts excitedly as they fall on and around him.

BROWN: So the idea that self-stimulation is giving yourself a sensory diet, it gives you a whole different way of looking at self-stim, as it's called. It tends to be regarded as a very bad thing, and teachers often say, "How can we stop him stimming?" And I like to say, "What does it mean?" And they say, "What does what mean?"

And I say, "What does stimming mean?" "Well, he's just stimming." And they've never realized that it has meaning, and that it's very logical and it's very practical. So that's one thing I got from her.

The other thing I got from her was this idea that if... particularly if the proprioceptive and vestibular senses are not working properly, nothing else is going to work very effectively because the person's attention will keep being drawn away by the problems in the proprioceptive and vestibular sense. So we see a lot of compressing of the body. The children like to squeeze into small spaces.

NARRATOR: A dark-haired boy reclines on a bean bag chair that is near one of the classroom windows. The chair provides support for his head and neck, and conforms to the shape of his body.

BROWN: I know kids who get between the fridge and the wall, and it looks impossible, but they do it. And they get in there, and a parent will say, "Oh, he'll stand in there for ten minutes, 15 minutes. And then he comes out, and he laughs and laughs and laughs. It's crazy."

And nothing is crazy, it's kind of... it's weird, but it's functional. And I think what the child's saying is, "I need deep pressure, and I need a lot of it "for quite a while. "But once I've got it, it feels fabulous because it's just what I needed, and I found a way of getting it." And to me, this doesn't look crazy or autistic.

This looks like somebody who's not finding his place in the world, and not feeling his body, and he's found this incredibly inventive way of doing it. Other kids will get string and bind it around their bodies. They love being wrapped tight in blankets, they love deep pressure massage. So if you see a child who's looking... if you think, "What sensory input is this behavior giving the child?" often in children with CHARGE, it will be proprioceptive input — compression, stretching, and twisting.

And what that tells me is they need it, and maybe we need to build it into their program in some way. Especially, by getting an OT and maybe a PT involved and saying, "This is what we think, what do you think? "What can we try? What can we do?" And taking that route with it.

CHAPTER 5: Sensory Processing and Educational Implications

BROWN: I like the idea that children with CHARGE are trying to find their place in the world. It's a great expression. They're also trying to find their place not just physically, but emotionally because that follows on. If you can't find your place in the world physically, if you can't get in touch with your own body, the emotional implications are enormous.

Think of the stress, think of the poor self-image, think of the terror that comes with all that. It's something that they constantly have to be paying attention to, and compensating for, and dealing with and getting right first before they can do other things. And teaching tends to assume that they'll focus on the other things.

We put time into lesson plans, we make materials, we buy expensive equipment. And we want to move directly onto that. But students with CHARGE often need a lot of preparation time. They need really extended time to find their place in the world physically and emotionally. To get in touch with their own bodies, to work out where everything is, and that it's okay, and it's safe, and they don't need to worry about it.

And that's why we see them getting on their backs on the floor, or bringing one ankle up on the other knee and folding their arms tightly, or propping like this and doing all these kinds of things so that their brain knows everything's okay, you can do what she's asking you to do now.

NARRATOR: In a photograph, an adolescent boy reclines on the floor with his head resting on a pillow. His hands are clasped across his chest as he looks up into the camera.

BROWN: It's happening, I think, for many of these children all the time, which obviously has an implication in terms of energy and attention. And the more we can help them get that right, the more it frees them up, and makes them available for the things that we ostensibly are being paid to do with them. But you have to pay attention to that and get it right. And that's where we've gone wrong for such a long time.

It's still a very common problem. "You're five now, you should be able to sit at the table." "You're 14 now, you can't take a book and lay on the floor "to look at it. It's just not sociably acceptable." Well, okay, but there's a reason it's happening, and is there some way we can make it socially acceptable with a couch, or by time limiting it, or whatever?

Yes, it's a major focus of attention and energy. And I think... I've moved lately more onto attention and availability for learning. It's my new kind of buzz thing that's going around my mind. Because I've watched children in classrooms, and I've realized they're not tired at the moment. so fatigue is an issue. But at the moment, they're not tired, but they're not available.

They're just not there for the things that the teacher wants them to be and needs them to be. And that needs to be addressed first. It's no good just getting heavy with them, or yelling at them, or jamming them in the chair. That doesn't solve the problem. It's the... you still leave the child with these huge issues. And they can't be bypassed.

NARRATOR: In a photograph, we see a young boy with CHARGE attempting to match colored figures with the corresponding colored circles on a game board, which sits on a table in front of him. On the boy's right, a pillow has been placed up against the armrest of the chair, allowing him to rest in a supported position.

BROWN: They address those postural needs, their physical security, and their sense of their own body as a priority over anything else outside that the world is asking them to pay attention to. And trying to get that message across to teachers is an important way to start the relationship building between you and the teacher, but also between the teacher and the child.

The children themselves have developed wonderful compensatory strategies. You know, these kids know what works for them, and they just give it to us all day long. And we're there saying, "Come on, get up, don't do that. How can we stop it?" But actually, it's... your evaluation should be saying, "Why is she doing this? "What does it mean? "What can we do about it? "How can we help it? "Can we facilitate it? Can we go at it another way?"

NARRATOR: In a photograph, several pre-school children with CHARGE are shown playing with toys, which have been placed on the floor of a large carpeted room. Two of the children lie on their sides and reach out to explore objects that are within their arm's reach.

BROWN: It's very interesting once children have language to discuss these issues with them. I've had marvelous conversations at CHARGE conferences with teenagers about balance issues. And they... what I like is that usually they have to think about it very hard because they've internalized the compensatory behaviors, and they don't think about it anymore. But it's taken a long time for them to reach that point.