Rachel Byrne:
Hi, and welcome everybody to the New Horizons Educational Town Hall series. My name's Rachel Byrne. I'm the executive director at the Cerebral Palsy Foundation, and today I'm going to introduce the topic of cerebral palsy and dyskinesia.
The objective of today's Town Hall is to really provide an overview of cerebral palsy as it relates to dyskinesia. We'll learn about what it is, how it impacts movement, how it can be treated, related considerations and possible ways that you or your family members with dyskinetic cerebral palsy can better understand and help manage the impacts of movement and motor function across their lifespan.
I'd just like to say a big thank you to Neurocrine Biosciences, as this educational Town Hall was made possible with their support. Now I'd like to introduce our speakers. Today we have Dr. Mark Gormley. Mark is a pediatric rehabilitation medicine physician at Gillette Children's. He treats children and adolescents who have cerebral palsy, brain injuries, spinal cord injuries, neuromuscular disorders, and other conditions, with a special interest in spasticity management. He's also the medical chair of United Cerebral Palsy.
Our other speaker today is Dr. Susan Biffl. Susan is a rehabilitation medicine specialist at Rady Children's Hospital in San Diego and an assistant professor at UC, San Diego School of Medicine. For 10 years actually, before deciding to attend medical school, Susan was actually a pediatric physical therapist. Welcome, Mark and Susan.
Dr. Mark Gormley:
Thanks for having us.
Dr. Susan Biffl:
Happy be here.
Rachel Byrne:
To get us started, obviously today's topic is about dyskinesia. But since cerebral palsy is the most common lifelong physical disability and it really does impact everyone differently, Susan, can you start by providing us a brief overview of the different types of cerebral palsy that there are?
Dr. Susan Biffl:
Oftentimes we classify cerebral palsy according to which body parts are involved as well as the types of movements and disorders of posture and movement that we're seeing. Certainly if it's affecting one side of the body, it'd be hemiplegic. If it's the bottom part of the body, it's diplegic, and then quadriplegic is involvement everywhere. With regard to the tone, you can see hypotonic cerebral palsy, which is very, very low tone where you're looser than you'd prefer to be. Spasticity, where you have high tone where things are tighter than is functional, usually just in kind of one direction and it's more velocity dependent. The faster you move it, the tighter it gets. Then there are the dyskinesias, which are more unpredictable and varied. Under dyskinetic is just not moving properly is really kind of what the word breaks down into. You can have dystonia, which is more of a sustained twisting motion, and it can be twisting in different motions on the same extremity at different times.
You have tremors that are more rhythmic and go back and forth. There's chorea, which is not rhythmic and again not in one consistent pattern but varied. There's athetosis, which is more of writhing kind of movement.
There is ballismus, which is more violent movement involving more of the proximal body parts.
A lot of things will get lumped in under dyskinetic cerebral palsy of all these different movements that aren't really hypotonic or spastic. So pretty much if those aren't your problems, you're probably in the dyskinetic part. Also, it's kind of rare to have cerebral palsy with only one type of tone. Most patients will have a combination of all of them. So a lot of the interventions end up, they'll work for one part and less for another.
Rachel Byrne:
I think we'll get into a little bit more of that later, particularly when we are thinking about interventions that specifically look at dyskinesias, but then also other interventions that maybe aren't appropriate if someone has dyskinesia as well.
On that, Mark, are they all then caused by the same event? Are they all then the same areas of the brain that are impacted? How, when we look at the brain, can we determine potentially what motor type or movement pattern someone will have or can we even do that?
Dr. Mark Gormley:
It's tricky. It is some type of brain injury as Susan kind of articulated. It depends on what kind of injury you have to the brain which gives you the different kinds of characteristics that you see. You can have a genetic disorder where the brain looks on MRI scan looks completely and totally normal, but it obviously isn't functioning well because you have a lot of different types of problems going on. That could lead to high tone, it could lead to coordination and muscle strength problems, it could lead to some of the movement issues that Susan talked about.
You can also have various different types of injuries to the brain that can cause a variety of different types of movement issues. You can have a stroke, particularly in the perinatal period. You can be born prematurely and have some of the fragile blood vessels around your ventricles rupture, and that can cause problems. You can have lack of oxygen that can affect either the whole brain and if it's a short period of lack of oxygen, it may preferentially affect the basal ganglia to create the specific types of movement problems like dyskinesia that we'll be talking about. It kind of depends on the type of injury. You can have malformation. It kind of depends on the type of injury. It can vary.
Rachel Byrne:
I think this sort of goes to the point where a lot of the time somebody won't have just one very clean cut movement type or movement disorder that they're showing because the brain injuries are so variable or where the brain is impacted is so variable. But just on that a little bit more, Susan, you touched on the term dyskinesia and how it really is an umbrella term for lots of different subtypes of cerebral palsy and it's this idea that it's difficult to control and can impact movement and function. But can we just start breaking them down a little bit more? So if we're talking about dystonia for example, what sort of do you see with dystonia?
Dr. Susan Biffl:
With dystonia, all of these movement patterns are fairly involuntary, so they're happening without you meaning to make it happen. With dystonia, it tends to be more of a twisted motion, and it can affect just a little bit in your toes or your fingers or your face. It tends to be kind of a sustained abnormal movement pattern that you didn't mean to do. It can be uncomfortable in certain people and in certain areas. It doesn't tend to be as sustained as spasticity, so you're a little bit less at risk for having a contracture develop because sometimes it goes one way and then sometimes it can go the opposite way and that one-
Rachel Byrne:
[inaudible 00:07:16] these movement patterns, even though they're sort of involuntary and not controlled, if you have the movement pattern that goes one way, then the other way is that likely to be a consistent pattern that then you would see or can that really change and be variable over time as well?
Dr. Susan Biffl:
It can be variable over time and just throughout the day, so that's when we're trying to do interventions. Sometimes if you have a pattern that seems like it's a real problem in this direction, you can try to intervene and decrease that pattern and all of a sudden the other way is now a problem. It's a lot less predictable. Also, it can affect just things that you don't think about like your voice and your face and your neck and things like that that don't tend to be as involved with spasticity.
Rachel Byrne:
For something like dystonia, can it say, impact your legs one day and then your arms the next? Or would it usually then be kind of, even though the movement patterns are very different, would it usually be okay if it's in the legs, you'll continually see it in the legs and it doesn't sort of spread around the body?
Dr. Susan Biffl:
Generally it's in whatever area is affected by the damage to your brain in the first place. But it can be more spread out than some of the others.
Rachel Byrne:
Then if we're sort of thinking about, Mark, going through some of the other sort of different dyskinesias that we sort of mentioned previously, if we're thinking about ataxia and more what would be called ataxic cerebral palsy, what do we see there?
Dr. Mark Gormley:
In ataxia, you see with any type of intentional movement, any time you try to move, the coordination is off. When you try to do something, your balance is off. It can affect your speech, it can affect your hands and your legs and your ambulation. When you try to move, the body's coordination is just not there.
Rachel Byrne:
Would that affect all limbs as well or is that again like dystonia that it could be only one arm or one leg?
Dr. Mark Gormley:
In most cases with dyskinetic movements including ataxias, it involves all four limbs, and it usually involves your face and your voice as well. There are certain types of dystonias that can be just on one side of your body. If the basal ganglia has a stroke just on one side, your dystonia will be just on one side, and we do see that occasionally. But usually with dyskinetic movements, they tend to be more global, particularly the ataxias. They can be just on one spot, but that's fairly unusual.
Rachel Byrne:
What about chorea? It was mentioned just quickly previously, but how would you sort of think describing that? Mark, I'll let you-
Dr. Mark Gormley:
Okay. Chorea is a lot of involuntary movements. Now, in certain cases of chorea, particularly if it's a genetic disorder that's progressive, it can start with one hand or one limb or one foot and then progress elsewhere. A lot of times it's due to some type of injury that occurs to the basal ganglia and creates these types of involuntary movements, and those can be pretty diffuse.
Rachel Byrne:
You've sort of mentioned the basal ganglia a little bit. Can we now describe that to our listeners who are on today. Susan, do you want to describe where the basal ganglia is within the brain and what is its role?
Dr. Susan Biffl:
It's in the middle, so the midbrain and I kind of often think of it sort of like the train station. Everything sort of needs to go from there and get sent out other directions. That's where it can affect more body parts and be less predictable because it's kind of a connection way station. As opposed to when someone will have a stroke in one area and you can kind of map out, "Oh well. You're just going to have trouble with this arm." If it's in the middle, kind of everything has to go through there, and it involves a lot of different neurotransmitters. There's a lot of connection and there's a lot of different messengers involved. This is where you kind of work with starting movements, coordinating movements, turning things off and on in a way that makes sense. That tends to be kind of the way my simple brain is understanding the midbrain because it's definitely a complicated part of the central nervous system. But everything kind of has to go through there and then get coordinated and make sense.
Rachel Byrne:
Mark, if someone has a dyskinesia, is it most common that the basal ganglia is the area of the brain that has been impacted?
Dr. Mark Gormley:
Yeah. Pretty much by rule the basal ganglia, it's been impacted in the vast majority of dyskinesias. I can't really think of a significant dyskinesia you'd have without the basal ganglia being involved in some sort.
Rachel Byrne:
The other question that we've had come in, and I think this is a great question because it comes down to potentially terminology that we hear. Someone has asked, are things like if they're hearing dyskinesia, they're hearing dystonia, they're hearing, I don't know, that they are hyperkinetic, there's all these different terms that they're hearing that their child's being described as over time. Is that because we've changed our terminology over time as physicians and clinicians or is there still in a way some confusion around dyskinesias and the best way to describe them or their names? You both nodding yes to that.
Dr. Mark Gormley:
I think yes to both of those.
Dr. Susan Biffl:
Yeah.
Rachel Byrne:
I think this is the piece that as we sort of dive deeper into this conversation today, if anyone who is listening, if you've got any questions around certain types of dyskinesias or you're unsure about which one we're talking about because you might have heard it described as something else previously, please put it in the chat and we'll try to expand as much as we can because this is a pretty complicated topic. It's not as straightforward. I think because dyskinesias are, there's lots of different types underneath it, it can make understanding some of these elements a bit tricky. But sort of thinking about how common is dyskinesia? If we're thinking about cerebral palsy, how many people with cerebral palsy would potentially have dyskinesia? Mark, do you know the answer to that one?
Dr. Mark Gormley:
Well, it would be a relatively low percentage, but when you come to our clinics, it can be a relatively high percentage because they're so difficult to manage. When you look at all the patients with cerebral palsy, the severely dyskinetic group is going to be less than 25%. It's probably in the neighborhood of 10 or 15%. That's a rough ballpark number. But in our clinics it may represent a little higher percentage because these are some of the most difficult types of movement problems and the ones that cause the most difficulties in care, positioning and comfort that we may see.
Rachel Byrne:
I think this sort of goes to the next question ... This is another one that's come actually through from the audience ... How does dyskinesia impact a growing child's body? This is a young mom, her child's five, what should she be expecting? This is probably a big question because obviously there's so many different changes that can happen, but dyskinesia particularly, how does it impact the muscles, bone health, all those different things in mobility?
Dr. Mark Gormley:
It's different than pure spasticity. It depends on if you have spasticity as part of that as well. A lot of these disorders, for example, anoxic brain injury, you'll have spasticity and you also have some of these dyskinesia as part of it. But if you had a very quick acute, severe hypoxic event and then it abated quite quickly, let's say in some type of birth situation, a lot of times it will affect the basal ganglia but won't affect the other areas, and you won't have a lot of spasticity or your reflexes won't be hyperactive and it'll affect just that. But you'll be quadriplegic and you won't be able to articulate very well, but your cognition may be pretty good, and people don't understand or realize that. So it's very complicated. A lot of it depends on if you have spasticity that's there, what's your cognitive level like, how severe is this dyskinetic disorder? Does it involve you to the point where you can't walk or talk on your own, or is it such that it's relatively mild and there are other things that you can do from a functional standpoint?
Rachel Byrne:
I think you just brought up a really good point and it's this whole piece around dyskinesia and potentially the physical impact that it can have, but really cognitively a lot of the times whether children and adults are cognitively functioning quite high or quite well. But it's really difficult because they either have to use different mobility devices, which we know obviously the world hasn't been built necessarily perfectly for wheelchairs and mobility devices, but then also communication devices as well. I wanted to go back to that because I want to talk about how early some of those should start and what we can do actually for children who are really bright who potentially have these complicated movement disorders.
But just Susan, to expand on that, if you're thinking about dyskinesia and how that then impacts teens and adults through the lifespan, is this something that we think changes over time? I know we've got a fair idea of how spasticity impacts over time and what it does to muscles. Do we know the same around dyskinesias?
Dr. Susan Biffl:
There's some information about that. But again, like Mark was saying, that pure dyskinesia is very unusual, but dyskinesia as part of other disorders is more familiar. You may have some of the same risks that you'd have with hypotonia and spasticity and some of the other things we're more familiar with on top of this.
We do know that with a lot of the more forceful movements, you can end up with more discomfort in some patients that that can be a real problem that can wear on the joints over time. Especially if it affects your trunk and your neck, that can really pose some risks to your orthopedic health as you go into adulthood. Even with risks like with impingement of nerves and kind of instability in especially the cervical spine, you can see that. That's something as young adults progress, if they start having unusual orthopedic symptoms or pain, that's something that needs to be worked up a little bit more so, especially if you have forceful dystonia.
The other thing as far as the lifespan, I think that if you have dyskinetic cerebral palsy, you don't expect the dyskinesia to get significantly worse over time. You may see the effects of it more, but if you have progression of dyskinetic movements, there are a variety of other causes of dyskinesia that should probably be worked up, whether they're genetic or medication side effects or exposures environmentally that you don't expect the movement itself to progressively worsen necessarily. Just like with everything else with CP, as the demands on the child increase of what they're expecting to do and getting around the community, the effects of that are felt more profoundly because it's interfering with more stuff. But you don't expect the underlying movement to get necessarily significantly worse.
Rachel Byrne:
No, I think that's really important as we sort of start thinking about these things because I know we've got quite a few adults listening. One of them actually just asked the question, can I develop dyskinesia? Is that something if I've had spasticity my whole life, is it if you see a dyskinesia, is that related to cerebral palsy? But what you've just sort of said is most likely that's something that you would really want to get investigated because if you've started to get dyskinesias later in life, it could be something else.
One thing that we do know from the literature is that just because you have cerebral palsy or even any other disability doesn't mean then that you are not at risk for other things as well. We know, say Parkinson's for example causes dyskinesias or other type of disorders. So yeah, I think that's a very, very good point and hopefully answered that person's question at the same time.
Mark, this one's for you. Just sort of thinking about then, can somebody have all the different types of ... I suppose motor types? So can they have chorea, ataxia, dystonia and spasticity? Is it possible to have all of these sort of presented?
Dr. Mark Gormley:
One thing I can say, and Susan kind of mentioned this as well, is that the majority of patients that we see that are quadriplegic will have a combination of spasticity and some type of dystonia or dyskinetic kinds of disorder. Not all of them will have a significant chorea or ataxia. They'll have movement problems. We tend to, and you mentioned this earlier, we tend to lump them in hyperkinetic disorders because the more we try to describe them and most of those labels were for adults, the more we try to describe them in kids with cerebral palsy, the more difficult and muddled it gets. I would say the majority of our patients who are quadriplegic will have a mixture of tone. The ones that are less involved may not have a severe dystonia as a component of that. Then as an element of the dystonia or dyskinetics, you can have a variety of different types of movement problems and they can vary from person to person even with the same similar type of insult to the basal ganglia.
Rachel Byrne:
I suppose this now goes to the next questions. We've had actually quite a few people asking, well what can you do about it? What can we do about dyskinesia? Are there evidence-based treatment for dyskinesia, Susan, what does the literature say? Do we have any strong pieces that we can actually do?
Dr. Susan Biffl:
We have many things that may be somewhat effective and this is where it gets really tricky. This is not a hammer and nail situation. There are all sorts of different things that can be affected. You may have more than one kind of tone. There are different neurotransmitters, and most of the medications are going to target those kind of systems. They'll target the GABA inhibitory system or they'll target dopaminergic systems or cholinergic systems. All of these different medications may be effective in certain patients but they're not necessarily going to be across the board that we kind of know if we can inhibit the tone and spasticity, things get a lot better.
With dystonia it can take a combination of things and each of the medications may be 10 to 15 to 20% effective in certain patients. So it's a lot more complicated situation, and you have to really work with your providers and see what's most effective for you in looking at these different things. Some of them are going to be your basic, the stronger you are, the more comfortable you are, the better rested you are, the healthier you are, the less all of this will bother you. So there's always that. Then working with your therapist, that's always going to be a great thing too. But then they have a variety of medications often used in combination, in some cases injections. Again, if you have one movement that really bothers you that you kind of come up into this position and it really bothers you or turning your neck, botulinum toxin can be very effective to selectively weaken those things that are causing that movement that really bothers you.
In certain situations, even going with surgical options such as intrathecal baclofen or deep brain stimulation can be effective as well. But none of this is really obvious or straightforward, and it takes a really long-term close relationship with your providers to find out which of these things are bothering you the most, what's having the best effect and what side effects do you really not like. I wish there was one answer. That would be really very nice if we could come up with that.
Rachel Byrne:
Mark, I suppose this is my next question. When we're looking at say pharmacological pieces, so different interventions that you could be doing in that, were they specially formulated for cerebral palsy or are these things that have potentially been developed for other areas of which we've then been able to say, "Okay, look we think it might have the same effect or do that." Do we have any specific cerebral palsy based, I suppose, interventions?
Dr. Mark Gormley:
I'm very glad you asked Susan the last question before I got into this. It is really tough. These medications, there's a few medications that are doing clinical trials for children with cerebral palsy, but they weren't necessarily developed for kids with cerebral palsy. There's very little that's out there that's developed for children with cerebral palsy. Most of it's for Parkinson's or adult disorders and some of these other movement disorders which are more commonplace. For development, they tend to go for the populations that are more commonplace. They're really tough. These medications, even though the disorders may be similar and even though some of the brain dysfunctions may be similar, as Susan was saying, if you're getting 10 or 15% efficacy, you're probably doing pretty good. They're really tough to manage, and you go through a cocktail of different types to see what you can come up with and you hope you hit something that doesn't cause a significant adverse effect in that patient but actually benefits them and makes it worthwhile. That's what we're going for is something that's worthwhile.
Rachel Byrne:
Susan, I loved that before when you spoke about, "Well, what's bothering you as a person? What are your goals?" What are those different things and how can obviously these different interventions impact that? But you did also mention quickly around clinical trials. Thinking about that there are it sounds like a small amount of clinical trials that are available for those with dyskinesia, how important is it for people to actually get involved in clinical trials? Because it sounds like we don't actually have a lot of information and that you're trying to ... It would be wonderful, as you said, to have, whether it be interventions that work better or that you would have efficacy greater than 10 or 15%. Is participation in clinical trials going to help that? Mark, I'll let you.
Dr. Mark Gormley:
Yes is the short answer. There's a couple different things with clinical trials. One is clinical trials tend to involve a large population and so you get more evidence. It's better than just in your own clinic where you may get 10, 20 patients if you're lucky that meets all your criteria. You get more patients so you get more information. The other thing about clinical trials is it will investigate a specific disorder and see if that medication specifically will improve it. It's usually what we call placebo-controlled, so it's not just by chance that it got better. You are comparing it against a placebo to see whether there's a significant difference.
It helps not only in development of a treatment, but it also helps in getting coverage for it. So a lot of these treatments, even if they're effective, if they're not approved for that particular condition, and cerebral palsy is one of those populations that tends to fall into that group where we don't have a lot of approved treatments, but if it helps you and the insurance company says, "No, sorry, it's not approved for your condition," the clinical trial's going to help with that.
Rachel Byrne:
I think just something because I know a lot of people sometimes get concerned about clinical trials, about potentially the negative impacts that they can have, but for obviously medications to get to clinical trial stage, they have gone through many, many different hurdles. Thinking about they would've done safety trials obviously. While side effects can still occur, if they've got to the clinicals trial stage, you're talking about most likely medication that has gone through lots of different hoops with the FDA and obviously other governing bodies.
Dr. Mark Gormley:
A lot of different hoops. You hear the different phases of clinical trials, and most of the time when we think about a clinical trial for a patient for cerebral palsy, it's what we call Phase 3. They've already gone through two phases that look to make sure that they're safe and initially showing some promise. Then the Phase 3 is the bigger phase.
In most of the clinical trials also because you're usually receiving a placebo, they'll have different arms of it where they'll get a placebo, you'll get a modest dose of the medication and then you'll get a higher dose of the medication. So there's three branches. Instead of being a 50-50 chance, you're only getting the placebo, you get a two-thirds chance you're actually getting the real stuff.
Now nobody really knows until the end of the study, but you at least get two-thirds that you're going to get the real stuff. There's almost always a follow-up period where you are guaranteed to get the-real stuff even if you go through a few weeks, 10, 12 weeks, which is usually kind of the average timeframe, 10 or 12 weeks of getting the placebo. If you happen to get the placebo, then you're guaranteed that you're going to get the real stuff at some future point after that.
Rachel Byrne:
Absolutely. I think these are important when we're thinking about clinical trials and seeing if the community really can get involved in some of these pieces. Now, when we're talking about dyskinesia, just wanted to go back a step because it's something we didn't cover. How early can dyskinesia be diagnosed? Because we talked about that it doesn't develop in adulthood, in older age, but it's not necessarily something that you can diagnose when a child is born or very early in life. Susan, do you want to just talk a little bit about how dyskinesia sort of presents early in life?
Dr. Susan Biffl:
I think that just like any diagnosis of cerebral palsy early on, you're kind of looking at your posture and movement development as opposed to what we would expect as children go through "normal" development. If you start to have more differences in how you're moving, it'll often present more as hypotonia in the beginning, and then you're just kind of really trying to fight for getting kind of control of where your head is, where your body is, things like that.
Then as you start to move more, you're usually by that point hopefully working with some therapists who can kind of help with seeing how you're moving and helping you move in the most effective way for you and helping your family to do that. Generally, you might see it in the early development, but again the thing you see most often is that you're going to see more of the hypotonia and then as the movements come in, they're poorly coordinated. Again, it's not as hard to be a one-month-old baby and then once you start expecting to do things like sitting up, you start to see more of these unusual movement patterns coming in, so the more things that you're trying to do, the more opportunities you have to see movements that are different than is functional for you.
Rachel Byrne:
I've got a question sort of knowing that obviously a lot of people have mixed different types, is dyskinesia screened for everybody? Does everyone do a screening around what sort of motor type they have, Mark, or is it sort of more on a case by case basis?
Dr. Mark Gormley:
It's both. More about case by case and I think that's just kind of the reality of it. Now, when we look at patients and if we are doing a screening process and we are concerned that they have a development problem or movement problem and we can start that process ... I mean, the CP Foundation's the leader in the world as far as I'm concerned in looking at detecting as early as we can ... Once you've identified that there is a concern, there are scales and different things that you can do to do those subsets and do the screening process to make sure that you're teasing out the dystonias or the dyskinetic movement issues. Then that starts down the road of what types of treatments are going to be most effective, whether it's which specific type of therapy, what kind of medications, et cetera.
Rachel Byrne:
On that, just to sort of expand, are there then particular assessments ... You sort of mentioned some scales and things like that ... Are there assessments that you would do to determine the different types of motor types rather than just watching? Is there actually specific assessments? I'm just going to turn my light on to make it brighter in here because I realize it's starting to get dark. Sorry, everybody. Probably were like going, "Oh my gosh, can't see her." But yeah, is there particular assessments or particular things to be able to determine which motor types? Or is it just really looking at somebody's movement patterns and doing it more in that manner?
Dr. Mark Gormley:
I'm assuming you're talking about the HINE or the GMA?
Rachel Byrne:
No, after diagnosis. A child's being diagnosed with cerebral palsy, so you've got a diagnosis of cerebral palsy and then you're sort of thinking about what motor type does this child potentially have. Susan, you spoke about you're looking at the different movements so you go, okay if they're sitting or if you're seeing uncontrolled movements. But is there any specific assessments that families should be aware of? Or is it more just really that evaluation of movement?
Dr. Susan Biffl:
When you are doing clinical trials and research, there are some very specific scales that have been used. They tend to be very long and it relies on cooperation and things like that. They do exist, the HAT and then there's a variety of them and it depends on your clinician and how comfortable they are and how much time that you have and if you're doing this as part of research or a clinical trial or if you're just doing it in clinic.
The thing is that some of these things are not visible when you see the child or in a specific situation. It's always super helpful if you have video from home of this is when this is happening, this is what's happening at school or when they're excited or whatever, then you have another opportunity to observe that. But yeah, if you're really wondering is this helping me, is this different, you can use the same kind of rigor that you would in a clinical trial with formal assessment scales. But oftentimes clinically, to be honest, most people don't use them because they take a really long time.
Rachel Byrne:
It is very much observational, which sort of comes down to then making sure that you're going to experts because obviously if you're doing things from observation, both of you see many patients across the year with cerebral palsy. As far as your observational skills, understanding what these different movement types look like, obviously you've got a far greater sort of memory bank to utilize and to go from. I just think that's a really important piece to mention because when it comes to these complicated movement disorders particularly, and particularly dyskinesias, making sure you've got a specialty team around you is so important. Mark, who would be part of that team usually?
Dr. Mark Gormley:
Here at Gillette we have a, we call it complex movement disorders clinic. It's myself, so a rehabilitation physician, there's a pediatric neurologist that's in there and then there's a pediatric neurosurgeon. So those are the three main components. That's from the physician provider standpoint. We have nurse practitioners that assist with that. But we also have an element where we have occupational and physical therapists doing their assessments as you mentioned, that are part of that clinic as well. They give us their information and their thoughts and feedback. So it's really complicated.
But like you were mentioning and when we first started this clinic, and this was several years ago, we'd leave that clinic with a headache because it was so complicated and those kids were so difficult and you're sitting there with people of various different specialties that have all these expertise and we were still struggling with it. It wasn't until we started to develop that experience that you're talking about and kind of that understanding and knowing how to identify why we see it and things like that, that we got a comfort level in at least assessing those patients. It's still very, very, very difficult to manage, but at least we have that whole team and we're able to assess them a little more comfortably than we were before. It's not easy, but it's a little more comfortable.
Rachel Byrne:
I'd like to dive a little bit more into the different management and I suppose options when we are thinking about interventions. We've sort of touched on them. Obviously there's medication type pieces, there's more therapies, and then we also sort of spoke a little bit about surgical options as well.
Now, for the medications, if we're thinking about those medications that are prescribed, you said it's a lot of trial and error in a way to see what works and what doesn't work for certain individuals. Is there, I suppose I don't know if there's anything more to add as far as those medications or things that you would want families to know. When should they start, I suppose? Can these medications be started early and are they then things that go across the lifespan and someone has to be on forever? Susan, do you just want to expand on that a little bit?
Dr. Susan Biffl:
I think it's important to remember that the medications are not curing the primary problem. What we're doing is symptom management. I think that that's important to remember. If the movements are significantly impeding your quality of life, you're not comfortable, you're not able to do what you want to do, it's probably worth considering a medication at that time. Most of these medications have been established for safety and they're fairly well tolerated and all of that. But some do have side effects that will bother some people and not others and some people may experience and not others.
At the time that you're starting to notice it and it's interfering with things, I think it is a reasonable time to start exploring whether or not that can be helpful. But knowing that again, the success rate with most of these is not that it's going to cure it and that's not necessarily the expectation that we would have. We would all love to do that, but if we can just take down the symptoms in a way that allows you to live your life and do what you want to do, that's where you're headed with it. It could be that there are certain times in your life that it bothers you more than others. Maybe you're uncomfortable, maybe you have something that you have to do at school or in work or whatever that it's more that you really want to treat it for that time. You can come on and off of medications. You can switch to different kinds. But it's not like if you're diabetic and you need insulin, it's not quite like that.
Rachel Byrne:
Yeah, I think it's helpful to know, and I think it is helpful to also know that this is really sort of treating symptoms, not actually treating the core piece. So you're not actually thinking about treating the basal ganglia for example. You're not looking at changing that or repairing it in a way with these medications.
I've got a question that's actually coming from the audience, Mark. So how long does meditation take effect? Or how do you know if it's going to work? We spoke about a lot of these things that there's only 10 to 15% chance of it working. Is it something that people need to be on for a long time to know if it's going to work or do you know quite quickly?
Dr. Mark Gormley:
Well, I guess it's usually not quick enough for patients but it does take a little bit of time. Most of these medications can have some adverse effects, and you don't want the side effects to thwart some of the benefits. If you start slow and build up slowly, you oftentimes can minimize some of the side effects while still realizing the benefits. We'll usually start with a low dose and then we increase slowly every three to four days, every week. Sometimes we dose every week just because it's more convenient to do that instead of having to keep track a little bit more than that. When you look at it from that standpoint, it can take several weeks to get up to a decent dose that you can really kind of assess.
As we've talked about, these tones, particularly the dyskinesias, they vary from time to time depending on what's going on in your day, how stressful it is and how much sleep you got and all the other things that are going on. You want to be able to give it a full trial to see whether this medication's actually having a benefit because it can vary, and so then that takes time. You're looking at probably at the soonest would be a couple weeks, and it may take several months before you really can figure out whether it's working or not. Then there's the whole cocktail issue. You might have a little bit of benefit from this and you add in another one to see if you can get a little bit of effect there, but you don't want too much, to have too much side effects and then that just extends it out. So it's pretty complicated with these dyskinesias.
Rachel Byrne:
No, I think it's a tricky thing probably for families and potentially adults who are listening going, "Oh my gosh. Well, how are we meant to navigate this? How are we meant to do different things?" But obviously medications aren't the only thing that can help with dyskinesia.
Susan, you mentioned a little bit before around therapy and obviously you used to be a physical therapist before you went on to be a PMR doc. Can you describe, are there therapy that is effective? For example, is strength training effective in helping with dyskinesia? Endurance. What should our listeners be thinking about when it comes to therapies?
Dr. Susan Biffl:
You're never going to find a rehab doctor who doesn't like strength and endurance. It's just not going to happen. And flexibility. It's good for everybody. The stronger you are, the more stable you are to control your movements and do the activities you want to do. Strengthening of out of patterns and strengthening of your core so you feel more stable. I always kind of think of it if you were walking on an unstable deck of a ship, that all of your other movements would get more intense. The stronger you are, you kind of calm your seas a little bit. So strength is great. Then like what Mark was saying is that if you're more stressed, if you are not feeling well, more tired, didn't get a lot of sleep, so if your endurance isn't is poor, you're not going to have as much bandwidth before you hit that point.
Those kind of things get neglected a lot because we want this magic drug that will come in and make it go away. But the good old-fashioned strength and endurance are really important. Some of the things we do with equipment and stuff like that is supporting you in a stable posture because the more stable you are, the easier it is for you to actually control your movements and do what you need to do.
Rachel Byrne:
Yeah, you brought up a really good point. There's actually another, a young adult has put this in that they're actually quite good in the morning. They feel like they've got their dyskinesia, not under control but feel like they can do movements and what they want but by the time they get to the end of the day, they really struggle to control their movements and that fatigue and feeling tired really fits in. What can you do for that? Obviously a medication isn't necessarily going to help at the end of the day. Is it thinking about different positioning? Is it sort of really understanding what triggers some of your movements? Or what are some things that these adults can potentially think about?
Dr. Mark Gormley:
Usually there's some type of noxious stimuli, whether that's fatigue or you're stiff because you've been sitting all day long and not getting around and moving or whatever it may be. Unfortunately you have to try to figure out what are those triggers and is taking some breaks and periodic breaks during the day, does that minimize some of that? Does getting up ... I have a patient that he has to get up and walk for five minutes every hour, otherwise he can't move, and so that's what he does. He gets up on his walker and he walks for five minutes and then he sits back down. Whatever it may be that seems to minimize it is, you have to look for that and see how you can incorporate that into your day and then what kind of activities kind of facilitates that and just make sure you can try to incorporate those.
Rachel Byrne:
I suppose thinking about clinical trials, we spoke there's obviously some clinical trials looking at medications. Are there any clinical trials looking at therapies for dyskinesias that you're aware of?
Dr. Susan Biffl:
That's an excellent idea, and I really hope someone starts-
Rachel Byrne:
I know. That's why-
Dr. Susan Biffl:
I'm not aware of any, but boy do we ... Really about just some of the basic things, not just some of the [inaudible 00:43:50] things but just some of the ... If you're stronger, if you're paying attention to not getting yourself to the point of pain, of working on endurance, any therapists out there, that would be a great thing to do.
Rachel Byrne:
Yeah, I couldn't agree more. Maybe that's something, Susan, you and I have to think about. But beyond that, Mark, going on and thinking about how do families start to navigate all of this? You spoke about Gillette and obviously Rady Children's Hospital. They're two incredible institutions and centers that have these complex teams. But how do families, particularly of young children, because I know there's a couple of them listening who are like, "Should we be starting? Have we missed our opportunity?" We talk about neuroplasticity a lot, we talk about those different things. But where should they begin I suppose, is sort of what they're asking?
Dr. Mark Gormley:
Well, it's going to depend on your community obviously. Inasmuch as you can get closer to home, the better it's going to be, and your therapist in the therapy group that's near you is going to be vitally important. You really want to try to find a therapist and group of therapists because you're going to be looking at a minimum physical, occupational and speech therapy for a lot of these children. What groups are available that are comfortable in managing these?
Then from a medical standpoint, you've got to see what medical institutions are close by that have physicians that are comfortable in managing that. If not, which ones can you travel to that will work in collaboration with your local connections. It's tough. We are really dependent on families to do some of the work, and we try our best because there's some families that are better than others at doing this. This is just kind of a classic example, Cerebral Palsy Foundation, the things that they do, is families being able to reach out and having the ability to look for resources and ask those questions. Most families are really good about it, but if they're not, you have to be able to support them the best you can.
Rachel Byrne:
With that, Susan, how can families find these best clinicians and therapists? Is there, I know aacpdm.org obviously you can go in there and look and find physicians. But as far as even thinking about physical med and rehabilitation doctors, there's not that many of you kind of around the country.
Dr. Susan Biffl:
[inaudible 00:46:14].
Rachel Byrne:
How do families identify where to go?
Dr. Susan Biffl:
You can actually look on AAPM&R website or American Academy of Physical Medicine Rehabilitation and they do have find a physician on there and you can specify if they have pediatric experience. That can be really helpful. Oftentimes asking your pediatrician who they've worked with for these kind of things. But AACPDM and AAPM&R are pretty reliable sources to find physicians and you can identify that they've ... Anybody who's done rehabilitation medicine training will have some experience with cerebral palsy and movement disorders. But to find someone who really specializes in it, you're generally looking at somebody who's doing pediatrics.
Rachel Byrne:
Yeah, I know. I think that's great advice, and we'll make sure that both of those links are in the chat and obviously this will be up on CP Resource for you all to watch after as well and we'll make sure those links are there as well. So to sort of finish off and thank you again to both of you for spending so much time with us today. What would you like the audience to know? So one final thing, Susan. If you can think about one thing that you would like them to take away from today's conversation about dyskinesia, what would you like it to be?
Dr. Susan Biffl:
I think it's knowing that you need to develop a relationship with your providers who are going to help you with this movement disorder and to help identify how it affects you and what you'd like to change so you can do what you want to do in your life.
Rachel Byrne:
I think that's really important.
Dr. Susan Biffl:
[inaudible 00:47:58] no easy answers.
Rachel Byrne:
Mark. Actually before you do that, I want to ask one more question because it's just something ... Is there anything people shouldn't do? If you have dyskinesia, is there anything that we know right now to say, "Okay, that's not something that would be appropriate for you?"
Dr. Mark Gormley:
Well, just about everything in the world's been tried. You have to be cautious. There are a lot of different treatments that are out there that are not as scientifically sound as some other treatments. They can create a lot of cost and angst and false hopes and so you have to be careful about that. But with that being said, a lot of the treatments that we have, even though we try to be as scientific as we can, the dyskinesia are very, very difficult to manage. There's a lot of times we don't have as good a results as we would like, but you have to be cautious that you're not getting into situations that are really going to be inconvenient, cost you a lot of money and really not be effective at all.
Rachel Byrne:
I think that's where having this sort of trusted team around you that understands the best evidence and understands cerebral palsy and particularly dyskinesias. But Mark, what's your takeaway then? What's your one takeaway that you [inaudible 00:49:10]?
Dr. Mark Gormley:
Well, it's almost kind of a continuation of that is that dyskinesias are very, very difficult to manage, and we try a lot of different things and we're coming at it from a lot of different angles and you have a lot of different specialists that are involved, therapists, et cetera. It can be very, very frustrating. As Susan says, we're really looking at trying to achieve the goals that they may be important to them and to make sure that their care's and comfort, comfort and their function as good as it can be. But it can be very difficult. Patients with their various different dyskinesias have to understand that going in because it's not necessarily going to be a short road. It's a long road, and you just have to be patient and hopefully you'll be able to find some treatments that are worthwhile and beneficial for you.
Rachel Byrne:
Well I'd just like to, again, thank you both for spending the time with us today. Please, if anyone has any further questions, put them in the chat. We'll try to come back and answer those. As I said, we'll put all the resources up there for you. We'll also link to both Rady Children's Hospital and Gillette Children's. So if you'd like to visit both of these, if you've got any questions, you can put them to Mark and Susan in that manner as well.
Dr. Mark Gormley:
I would add that the United Cerebral Palsy has clinics throughout the US too that do clinically treat children with cerebral palsy so you can look for those resources as well.
Rachel Byrne:
Yeah, absolutely. We'll make sure we tag that too. But thank you both. I hope everyone really ... This was our first conversation around dyskinesia, and I think hopefully one of many. I think we've had some wonderful questions come in today, so thank you both.
Dr. Susan Biffl:
Pleasure.
Dr. Mark Gormley:
Thank you.
Rachel Byrne:
To finish off today, I would just like to thank again our speakers, Mark and Susan. I'd also like to thank all of you who are watching and who put all the different questions in the chat. Hopefully we answered most of them. If we didn't get to them, we are going to try our best to go back and answer them actually in the chat function. I'd also highly encourage all of you to go to cpresource.org and you can actually watch the recording again. Any of the resources that we mentioned will be linked directly there for you. To finish off, I would also like to acknowledge Neurocrine Biosciences, who made this Town Hall possible. Thank you so much.