Vision Issues for People with CHARGE Syndrome
By David Brown — Read full transcript
In this webcast David Brown provides an overview of the impact that CHARGE Syndrome has on vision and, in turn, on the behavior of the student with CHARGE Syndrome. David, an Educational Specialist with California Deaf-Blind Services in San Franciscio, has spent many years researching various aspects of CHARGE Syndrome. In this webcast, David provides an overview of the ocular defects, muscle tone, and vestibular issues present in individuals with CHARGE Syndrome and the subsequent impact on the individual's behavior. David cautions the viewer to take these factors into account when working with individuals with CHARGE Syndrome and encourages the recognition of compensatory behaviors which are often exhibited as a result.
Chapters: 1 — Introduction; 2 — Ocular Defects and their Effects; 3 — Muscle Tone and Vision Issues; 4 — Vestibular Issues and Vision; 5 — Accomodations to Maximize the Use of Vision; 6 — Vision Issues and Behavior; 7 — Recognizing Compensatory Behaviors.
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CHAPTER 1: Introduction
BROWN: CHARGE syndrome is the most complex syndrome that we know with the most complex, multi-sensory disabilities involved in it.
And vision, like all the other sensory issues, vision issues are just as complex. So there's a whole range of ocular defects that have different kinds of implications.
But also, the other sensory impairments in CHARGE have an impact on functional vision. And that's very often overlooked.
So anything in particular that affects your muscle tone, your postural control, your movement abilities, your balance is going to have an impact on the way you use your vision or don't use your vision. And I think that's one of the most widely misunderstood aspects of the children in school settings.
CHAPTER 2: Ocular Defects and their Effects
BROWN: In CHARGE syndrome, if we, first of all, think about the ocular defects. Some of the most common are colobomas. A coloboma is like a part of the eye that didn't form during the fetal development. And in many people with CHARGE, there's a coloboma at the back of the eye, on the retina, which has the main implication of causing a visual field loss. So instead of that full visual field that two healthy eyes should be seeing, there are going to be areas missing. And some people have a coloboma only in one eye on the retina, some have them in both eyes.
Sometimes they're large colobomas, sometimes small. And they can be in different parts of the retina. Though, on the whole, they tend to be on the lower... the lower part of the retina. So there's likely to be field loss, which means areas where they're not seeing. And one of the implications of that is going to be postural, which means that the child might need to keep their head turned in a particular direction.
NARRATOR: We see a color photograph of a retina that was taken during an eye exam. In this representation of the retinal sphere, we see the conjunction of many blood vessels in the small circle of the optic nerve. Adjacent to that is a much larger circular void in the retinal tissue.
BROWN: If one eye is completely blind, then they're going to probably turn the sighted eye a little more forward and have this slight head turn. In younger children, you can test for it quite easily by giving them things to look at, and they instantly bring it just to one eye or they hold it up here, and that gives you a clue that there's a field loss and only part of the retina is picking up the image.
Then there's a different kind of coloboma, which can be in the iris at the front of the eye. And that one you can actually see. You look at the eye and instead of a nice round, black pupil, you see what we call a keyhole shape. There's an extra little notch attached to the black disk.
NARRATOR: We see a close-up photograph of a child's eye. The pupil of the eye is shaped like an inverted teardrop, with the narrow protrusion separating the lower iris.
BROWN: That shouldn't affect functional vision in the same way, but it will affect vision in terms of coping with light. We rely on the front of the eye being able to shut down as the illumination level intensifies. And if you've got this hole in that part of the eye, then it can't shut down adequately. So very often the children will have difficulties coping with bright light, what we call photophobia.
CHAPTER 3: Muscle Tone and Vision Issues
BROWN: I can accommodate with my eyes by looking at my finger, and seeing it in focus. And then I look at you much further away, and you're in focus. And that's a muscular activity. The muscles that control the lens in my eye have been altering the shape of the lens to get my finger in focus, and then to get you in focus. And we call that "accommodation". So those muscles need to be there, they need to have a good tone, and they need to be working properly. Otherwise, I'm not going to be able to do that.
Then, on the next, bigger level there are the ocular muscles that control eyes and eye movements. And they work in pairs. And we need those in order to give us the ability to put our eyes left and right in that horizontal movement. And then we have the vertical ones, and then we can go round in a circle.
Again, it's muscles that do that, not eyes. The eyes are dependent on the muscles. So the idea that vision is just about eyes is a really bad misunderstanding of the way the sense works.
Then if we get to the next bigger set of muscles, I need to keep my head in the position I want it, so that my ocular muscles can do their job and so that my lenses in my eye can do their job to make everything work. So I have to be able to maintain my head upright and in this position in order to look at you.
If you suddenly move and cross the room, I have to be able to do this and watch you as you go. But the ability to hold my head in this position and control its movements depends on my body being stable and under control.
NARRATOR: In a photograph, we see an adolescent boy with CHARGE in a field of strawberry plants. His low muscle tone is evident by the tilt of his head. And he kneels between the rows of plants, making it easier to coordinate his efforts to locate and then pick the fruit.
BROWN: So actually, all of those muscles in my body — I'm sitting down — so everything from my butt up to the lenses in my eyes needs to have a good level of muscle tone that can relax and tense in the ways I need it to so that my eyes go exactly where I want them to do, move when I want them to move, stop when I want them to stop, and change the length of the focus depending on what I'm looking at and how far away it is. It all depends on good muscular control and good muscle tone.
CHAPTER 4: Vestibular Issues and Vision
BROWN: The vestibular issues cause a whole extra problem for vision in particular. We have a reflex called the vestibulo-ocular reflex, which is a vestibular reflex that enables us to fixate our eyes on something and keep our eyes fixated, keep our eyes looking at what we want them to look at while the rest of our bodies move around, in effect. So I can look at you, turn my head, and stay looking at you because my vestibular system — which is based in the inner ears on both sides of my head — is enabling me to do that.
If I had CHARGE and my vestibular system in my inner ears was not working or was very severely damaged, when I turn my head, my eyes, because they're attached, have to go with my head. And then I have to search with my eyes to find you again because I've lost you. And that reflex functions all the time for us. So that we can fixate our gaze as we walk around, as we stand up and sit down. We can do all that and even transfer our gaze.
I can look from one person to another person and back again. I can look at you as I'm standing up, look down at the chair, and look up to you again, and I'm able to search with my eyes and then fixate on things as the rest of my body is moving around. And that is something that is very challenging for a lot of people with CHARGE. And we can see simply from their behaviors how they compensate for that.
NARRATOR: In a video clip of a group physical therapy session, an adolescent girl with CHARGE is handed a rubber football and asked to weave through a series of cones on the gym floor. As she steps forward, she drops the ball and leans unsteadily to her right. Eventually, she collapses to the floor and rolls onto her back.
BROWN: And they compensate, generally speaking, in the beginning, by getting on their backs on the floor, younger children in particular. They... if they get something that they want to look at and they can actually manipulate it, they like to take it down with them, get on their backs, and then they hold it up. And they're in a good position for looking.
What getting down on the floor does is stabilize the body and the head. They love to fix their heads because if the head moves at all, the eyes go away as well. And they know that, and they don't want it, so they fix their head. You see children put their head down on the desk sideways, and hold things up in front of their eyes.
Another way of fixing the head. And you see children doing this kind of propping and this kind of propping. All different strategies to get the eyes as stable as possible because they don't have the sensory systems and the muscle tone to do it the way we would consider the normal way of doing it.
CHAPTER 5: Accommodations to Maximize the Use of Vision
BROWN: I think the idea that I've heard said that children with CHARGE don't look or won't use their vision is a big misunderstanding. I think they do look and they do want to use their vision, but everything needs to be right to enable them to do that. And often that means they need to be in the right posture, they need to have the right physical supports, and the things they're meant to be looking at need to be in the right position vis-à-vis them.
And often that isn't really taken on board in the school setting. And the child, because of their need to succeed and their need to use their vision, they will do things to do that. But they might not be the things that the adults around them thought they were setting up or wanted the child to do.
And I'm... often find myself saying to parents— but especially to professionals working with children with CHARGE— "Why do you think she's doing that?" And I'm trying to say, "She's doing it for really good reasons. "And your attitude seems to be she's doing it to be lazy, "or to be avoiding, or to be annoying. "But I think she's doing it more likely for very functional reasons."
NARRATOR: In a video clip, a young boy with CHARGE is shown reclining in a bean bag chair. He holds a colorfully illustrated book close to his face and at an angle as his head leans to one side.
BROWN: And if we can get to the bottom of those reasons, maybe we can let her be in a different position. Maybe we can present the materials in a different way or in a different position. Maybe we can think about the time involved.
Sometimes these children need much longer to take information in through all their sensory systems, including vision. Sometimes it's very hard for them to use vision without then using touch to confirm what they're seeing. And we see this across the broad population of children with deafblindness. But it is also part of the CHARGE spectrum of behavior. Sometimes altering the presentation materials.
Another issue with balance is, that the children because of field issues around coloboma, they often... if they're sitting at a desk and stuff is being presented down on the desk itself, they often have to adopt really uncomfortable positions of leaning right forwards and looking right down in order to compensate for the field loss and possible acuity problems. Well, this is not a comfortable position anyway. But if you have poor vestibular sense, the easiest way to maintain your head balance is to balance on your spine the way I'm doing at the moment.
The moment you come off that vertical and you bring your head forward, you're really working to keep it there rather than stop it going all the way down. But then if the children do this kind of thing, people say, "Don't be lazy" or, you know, "Take your hands down." I see this all the time. "Get your elbows off the table." And sometimes, if you're lucky, it can be simple as bringing in a raised desktop, angling the desktop up so that the materials can be put on a board.
NARRATOR: In a photograph, we see an adolescent boy in a Hawaiian-print shirt working on a school assignment, which is presented on a slant board on the desk in front of him.
BROWN: And then it might be much easier for the child to maintain this very upright position, which is a major way of compensating for the vestibular problems, and the low muscle tone.
It's all about negotiating, but it all starts with saying, "What does this mean? Why is she doing that?" And I do accept that over time, these compensatory behaviors acquire a whole social component. Because the child learns what winds people up, and they use things that wind people up sometimes.
And I accept that, and that's human nature. But I do think it's a mistake to just jump in right at the beginning and say, "She's annoying me, and I'm not tolerating this, so it has to stop." If it's not dangerous and it's not a major disruption, then I think you need to spend some time experimenting and talking to other people, and saying, "What do you think this means?"
CHAPTER 6: Vision Issues and Behavior
BROWN: We know that changes, sometimes dramatic changes in behavior, seem to be part of the CHARGE spectrum. And often those changes are fairly long term, sometimes permanent. And many of us have talked about our mantra for these sudden changes. And usually it's a deterioration. It's something that causes concern, the change.
First of all, I would think about health issues, medical stroke health issues. Think about pain. Think about major physical discomfort, maybe to do with digestion or something like that. But then very soon afterwards, I'd think about sensory status. Has there been a sudden, possibly dramatic change in vision or hearing? We know that both can happen in CHARGE. We're not totally sure with the hearing side of things why it happens. But we do know particularly with children who have retinal coloboma that there's a greatly increased risk of a retinal detachment.
NARRATOR: We see the color image of a retina taken during an eye exam. The optic nerve and characteristic convergence of blood vessels are to the left in the photo. The right third of the retinal sphere appears wrinkled, where the tissue has pulled away from the inner surface of the eye.
BROWN: Three children in California with CHARGE in the last 12 months that I know have had a retinal detachment that wasn't noticed for some time. And if the retina... if there's any chance of putting it back successfully, it has to be done fairly quickly. Otherwise you miss your chance, and there's no point doing it. So I do think we need to be looking out for dramatic changes.
It might be a dramatic change in visual behavior. But it might also be other changes in behavior. The child might become very withdrawn, or very angry, or very aggressive. Those kinds of things might be part of the change, as well as the child rubbing their eye more or not looking anymore.
CHAPTER 7: Recognizing Compensatory Behaviors
BROWN: People with CHARGE with significant vestibular damage, I think they use their vision in very astute ways to help them maintain erect body posture. And what they do is use the verticals in the room. They look at the sides of windows, the corners, the doorposts. And I've seen so many children whose posture deteriorates dramatically when they go outside into a large hall or into the open air. And I think one of the reasons could be glare.
Particularly if there's an iris coloboma. Another reason could be that there might be an uneven floor surface. They might be on grass or gravel. But very often I think a big reason is that they've lost those visual vertical markers. And suddenly, vision is not as helpful as it was to helping them stay upright. What do they do? They drop to all fours and they scoot on their butts, or they crawl. And it's very sensible and it's perceived as exactly the opposite.
NARRATOR: In a photo, a boy wearing a ball cap, who has been participating in an outdoor exercise activity, now sits on the ground. A teacher crouches nearby and holds a symbol calendar while encouraging the boy to resume the activity.
BROWN: People think it's kind of crazy, it's mentally retarded, it's naughty, it's lazy. I think it's kids just saying, "I'm not going to fall over and crack my head on the floor, so this is what I'm going to do." And if we really respect the kids, we should all the time be saying, "What does this mean?"
And I think I come very much from a deafblind perspective — and it's one of the great things about the world of CHARGE — is that we in the deafblind world have now got into the CHARGE world, and the two worlds have really come together. Because our view of children and our way of looking at them and interpreting them is really very beneficial for children with CHARGE. So it gives them a big compensatory system because they don't have good vestibular function.
The other thing I think that needs to be mentioned that vision gives them is a way of self-regulating. You know, these children like to lay on their back and look at a ceiling fan. Now, one person might say that's lazy, another person might say it's autistic. Someone else would say it's mentally retarded. We love labeling these things.
I would look at it and say, "Is he trying to self-regulate? Is he trying to calm down or wake up? Is he just feeling stressed and he needs to chill out a bit?" To me, it just seems very acceptable behavior. And I wouldn't want anyone on their back looking at a ceiling fan for extended periods of the day. But when that happens, I think there's a message coming across. Maybe they want to go to something on the wall that spins. Maybe they have something on a string and they like to swirl it around.
All these kinds of vision patterns tend to be used in a self-regulatory way. And I said very early on we're all on the same spectrum as people with CHARGE. They're just on the CHARGE bit of the spectrum, but we're all on it. We all use vision to self-regulate.