CHARGE Syndrome: Providing Physical Therapy

Chapters:

1. Introduction
2. Establishing Communication
3. Creating a Treatment Plan
4. Therapeutic Movement and Motivation
5. Active and Passive PT
6. Setting and Adjusting Goals
7. Outlook for Improvement

CHAPTER 1: Introduction

GIRARDI: When we're looking at children with CHARGE and the wide-ranging characteristics, when it comes to gross motor skills, the biggest one that shows up is balance. Because of the syndrome, most of them are missing parts of their vestibular system, especially the semicircular canals.

They're either malformed or just totally absent. Part of your vestibular system is the semicircular canals, and then for balance you use vision, proprioception, and you also have to have the motor ability to do a balance reaction. So with the CHARGE kids, they're not getting the vestibular information.

Most of them have vision impairments, so what information they are getting from the visual system is impaired, decreased, or not accurate. They have low muscle tone, which low-tone muscle is not weak, but it's slow to respond.

NARRATOR: A young boy with CHARGE is attempting to roller skate in a carpeted hallway. From behind, we see the skates slip, and he stumbles a bit.

WOMAN: Good for you! That was good!

GIRARDI: It's like an elastic band; it's very loose, and in order for you to move things with an elastic band, first you've got to pull up that tension and then pull and move. So their muscles, they've got to get them ready, get them set to what you and I are like, and then they can do the balance reaction.

They also have lax joints because the ligaments are loose and the muscles are loose, so the joints may not be in alignment, so the balance reaction's not going to work because they go to move and the body moves in the wrong way.

NARRATOR: Working with a physical therapist, the boy with CHARGE walks in shoes that have a half sphere attached under the ball of the foot. The shoes provide a balance challenge, and the therapist encourages the boy not to grab for support or lean on the wall.

MAN: No rails, no rails.

GIRARDI: You've got to let them know that you're a safe person, you're not going to hurt them, they're going to have fun, and you also have to learn to read their body.

Not every child responds the same, not every child expresses pain, displeasure the same — I had one student who expressed pain by laughing. You have to play with them, get used to them, so that you can read them and they can read you, and then you can make the bond so that you get a working relationship, and then you can go forward.

CHAPTER 2: Establishing Communication

GIRARDI: If you're going to treat a child with CHARGE syndrome, you need to communicate. And how you're going to communicate is, again, it's varied. It could just be sign, but most of the children need a more concrete system, and most of your therapists aren't fluent in sign language. So you need a system that they understand, which means you need to talk to their teachers, you need to talk to their parents, and you make a system based on what they know. And it could be the object itself, or a representation of the object.

NARRATOR: A physical therapist presents a boy with CHARGE with a symbol calendar, allowing him to choose the next activity. He chooses silly shoes. We them see him walking in the silly shoes, which are small, trampoline-like devices that are strapped to his shoes.

GIRARDI: It could be pictures, it could be line drawings, it could be the word, if they're able to do the word. You need to have it in an order, and you need to be specific and follow the same order each time. That way, they can learn to anticipate what's next. You should always start and end with the same things — not like bouncing on the ball at the beginning, bouncing on the ball at the end, but if you bounce on the ball at the beginning, you do that every time you see them.

And then you can do jumping jacks at the end or whatever it is, but so they know that, "Okay, PT started," and, "Oh, okay, we're done already, this is it," and it's very clear and they understand. That way they know what's happening, they know what to expect, and you can get their whole participation because they're not afraid, "What's going to hit me next?" They'll know what's happening.

You can change the schedule, but you need to keep it really consistent until they know it. You need to be able to work with them, to communicate what you want. Some of the behavioral components of CHARGE, especially the obsessive compulsive disorder, are not their fault — they can't help it — so you need to adapt to it. And when you're treating, you really need to make sure that the environment doesn't hit those OCDs.

NARRATOR: A physical therapist kneels in front of a young girl. As the physical therapist presents two symbol cards representing a choice of activities, the girl fidgets in her chair. She chooses to use the bouncy ball. We then see her bouncing.

THERAPIST: Hold on!

GIRARDI: If you don't have good communication and a good schedule, you have a meltdown, usually. You've got a child who's confused, who doesn't know what's expected of them. So either they're going to try everything, which usually happens all at once, so they appear to be out of control, they may start searching for something that will comfort them because they're confused, they're scared, so then you've got a child running all over the room, or moving all over the room. And you're just not successful, and then you get frustrated, and you both end up sitting there pouting because nothing's going to get accomplished.

CHAPTER 3: Creating a Treatment Plan

GIRARDI: I think an important thing to remember when you're trying to teach a motor skill to a student with CHARGE syndrome is that they don't see other people move. A lot of the learning and the early learning that we do from motor or anything else is by observation. They don't have that, so they're very fearful of movement, they can't copy, because they can't see most of the time, and they're just totally afraid to move, and they've never experienced it.

Movement is learned through experiences — you know, your basketball team practices layups and whatever. They've never had the chance to practice. And so the first time you're asking them to move, a lot of them, depending on their vision, don't know where their body ends and the world begins. And they've had experiences, unfortunately, where they've gotten hurt because they don't know what's out there. So, first thing is you've got to make them safe. Second thing is that they need to feel successful, and an example I use a lot is modified Razor scooters.

NARRATOR: We see video of a young boy with CHARGE using a Razor scooter as the physical therapist walks alongside. The scooter has an additional two wheels on the back to provide stability.

GIRARDI: So the first time they go on the Razor scooter, I'm supporting them — actually, the first time, they may just put both feet on it, I'm wrapped around them, they have no fear of getting hurt, and we move through space. For some of them, moving through space is a new and fearful experience — I was going to say exciting, but isn't really exciting the first time. So then you give them lots of support, so they can learn and feel what the movement is and what the expected goal is.

NARRATOR: A boy with CHARGE is standing on a woggle board, a device that requires him to shift his weight and balance in order to alternate swinging the ends of the board forward.

GIRARDI: The first few times you do an activity, you're doing 99% of it and they're coming along for the ride. It's like they're experiencing it, they're trusting you, but you're doing all the work. And then slowly, with all hope, and usually it does happen, they'll start taking it over, so you back off a little bit. But if they get scared and get irritated, you have to come back in.

You've got to make it always happy, make it successful, and let them learn, let them know what their body can do, and then you can fade off. It actually does get to a point where you don't have to do anything and you can just say, "Okay, it's time to do this," and you can watch and be there.

CHAPTER 4: Therapeutic Movement and Motivation

GIRARDI: When working with children with CHARGE, you can't do your standard physical therapy routines because it has no meaning. It doesn't keep their attention. They don't know how to exercise because, let's face it, when you go to do exercises, you demonstrate and tell somebody to repeat it. They can't see it. So what we try to do is find activities that exercise the same muscle groups you want, work on the same systems you want, but are fun and work together as a whole.

You can't really separate things out with them because then they can't put them back together. The Razor scooter is working on single-leg stance, strengthen the legs and the extensors, balance, moving through space, and if they've got enough vision, spatial relations and up and down and around and through.

You can add a lot of that into your session, too. You can put language in. And if you're doing swinging, you're not just swinging, you're taking. You're swinging, you're hitting a target to turn on a light, you're throwing a ball into a basket, or you're coming and doing high-fives. It can't just be free, out in space. It has to have a purpose and a meaning. And doesn't really look like PT, but you're working on what you want to work on.

NARRATOR: In a video clip, a boy with CHARGE is walking using a pair of modified stilts. Each stilt is comprised of a metal tube attached to a sturdy plastic cup approximately six inches high, which forms the base.

GIRARDI: When you're working with a student, you want it to mean something to them. The activity itself may have no meaning to them, but you can pair it with a reinforcer that does have meaning to them. It can be lights—if you pedal your bike to a point, hit a switch, and you get a minute of lights or music, even though they have vision and hearing impairment, most of them have residual hearing and vision or something, so it can be lights, it can be vibration, it can be a silly song.

CHAPTER 5: Active and Passive PT

GIRARDI: When you're doing therapy with a CHARGE syndrome student, you need to alternate the active and the passive — because you can get them revved up, you can get them excited, but you can also go over the wall with that — so you need to do an active activity and then a passive. An exciting one, then kind of a calm down, so you don't get them too revved up and then you just lose them totally and they can't come back down to you.

MAN: Go!

NARRATOR: Several students with CHARGE are in a gym class, taking part in a strength and balance challenge that requires them to hold a football and run or walk quickly while the instructor attempts to jostle the ball from their grasp. During the activity, one of the students becomes agitated and is led to a chair in order to calm down.

GIRARDI: All the activities are therapeutic. An active one could be using the Hippity Hop, which is very moving, very bouncy, very exciting, very high energy. A low one could be roller skating, because none of these kids roller skate very quickly, and it's very slow, and also it's the weight of the skates gives proprioception and good feedback into the system.

It could be doing resisted exercises—I use a Pilates bench that gives the proprioception, their outer gravity, they're supported, and I usually pair it with something that's reinforcing, so if they do the exercise, they get reinforced. Again, everything's happy; there's nothing negative happening during the session. And then you can bring them back up again and bring them back down again.

CHAPTER 6: Setting and Adjusting Goals

GIRARDI: When working with children with CHARGE, you need to realize that they don't have the building blocks that you would expect to see with other students, so everything you're doing is new to them. So, it takes them longer because they're learning everything from scratch, and so your goals need to be lower. Sometimes my goal is just that they will touch the equipment, or that they'll walk into the room, or that they'll allow me to hold them. And then if I'm working on, say, walking a balance beam, all right, the first one is to stand on the balance beam. And that's okay.

Other students make progress much quicker because they have the building blocks, they have past experiences that they can pull back on. The children with CHARGE syndrome don't, so the typical goals you would do need to be cut in half, in tenths. And you will get there, it's just going to take you a little bit longer and a lot more steps.

NARRATOR: In a video clip, a boy with CHARGE holds a football and weaves in and out of cones spaced along the gym floor.

WOMAN: Hold it in your hands!

NARRATOR: When a schoolmate is presented with the opportunity to attempt the same activity, she drops the ball and eventually collapses to the floor and lies on her back.

GIRARDI: With a child with CHARGE, it's very important to repeat multiple times. You're learning physically, which takes longer because you're only going through one system. And in physical therapy, we do repeat a lot, but I would multiply that 100 times. And they're not going to learn the complex steps, they're going to learn the very little step.

It could be as simple as, okay, standing up. "All right, I'm standing in this posture." And it's like okay, well, the first time it worked, but we have to do it second, third, fourth. So that they learn through their motor skills, they learn that they're safe and they're willing to do it and they can memorize it. And then when you add steps together, they have to remember all those steps, so they have to practice and practice and practice until it becomes second nature.

CHAPTER 7: Outlook for Improvement

GIRARDI: Students with CHARGE can make progress in physical therapy. I've had the pleasure of working with some students for six, seven years, seeing them at the beginning and seeing them leave physical therapy—we have a little graduation ceremony. But because it's such a multi-system disease, or syndrome, you need a multi-system approach to work with them.

You need not only your skills as a physical therapist, you need your behaviorist to tell you how to react to when they have their behaviors, because they're pretty smart kids — they've learned that, "If I hit you "or if I have a little tantrum, I'm not going to have to work "and I can go back to doing my self-stim or whatever I want to do on my own." So you need that help. You need the teacher to help you because you've got to communicate with this child.

They don't understand English; they can't hear. They may have cochlear implants, but just because you have a cochlear implant and you hear sound doesn't mean you understand language, doesn't mean you hear words. You hear noise. So you need the teacher.

NARRATOR: A physical therapist presents a young boy with CHARGE with a choice of activities.

THERAPIST: Roller skates?

NARRATOR: The therapist uses a symbolic calendar to present the choices to the boy, who is non-verbal.

GIRARDI: You need patience, more patience than God. You just accept what you can, accept it's going to be a bad day, and cherish the good days, because they do come. And they're slow, but they get there. And it just takes time, patience, and you can't do it by yourself.