EPISODE 79

[INTRODUCTION]

[0:00:05] MBH: Thanks for joining us at Keys for SLPs, opening new doors for speech-language pathologists to better serve clients throughout the lifespan. A weekly audio course and podcast from SpeechTherapyPD.com. I'm your host, Mary Beth Hines, a curious SLP who embraces lifelong learning.

Keys for SLPs brings you experts in the field of speech-language pathology, as well as collaborative professionals, patients, and caregivers to discuss therapy strategies, research, challenges, triumphs, and career opportunities. Engage with a range of practitioners from young innovators to pioneers in the field as we discuss a variety of topics to help the inspired clinician thrive.

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[INTERVIEW]

[0:01:24] MBH: Welcome to this episode of Keys for SLPs, Keys to Supporting People with Huntington's Disease. I am Mary Beth Hines. Before we get started, we have a few items to mention. Here are the required financial and non-financial disclosures.

I am the host of Keys for SLPs and receive compensation from SpeechTherapyPD.com. Michael de Riesthal is an Associate Professor in the Department of Hearing and Speech Sciences at Vanderbilt University Medical Center and Director of the Pi Beta Phi Rehabilitation Institute. He receives an honorarium for this presentation from SpeechTherapyPD.com. He is the Managing Editor for the Clinical Aphasiology Conference Proceedings in the American Journal of Speech-Language Pathology.

Here are our learning objectives for this course. One, provide an overview of Huntington's Disease and recently researched findings. Two, describe speech and cognitive challenges as Huntington's Disease progresses. Three, explain ways SLPs can support people with Huntington's Disease. Now, we welcome our guest today. Dr. Michael de Riesthal, PhD., CCC-SLP. Michael is an associate professor in the Department of Hearing and Speech Sciences at Vanderbilt University Medical Center and Director of the Pi Beta Phi Rehabilitation Institute. Prior to that, he worked as an SLP at the VA in Gainesville, Florida.

Dr. de Riesthal's clinical and research interests include the management of neurologic speech, language, and cognitive disorders, and he has taught, presented, and published papers and book chapters on these topics. He is a founding member of the Interdisciplinary TBI Clinic at Vanderbilt and provides services in the interdisciplinary Huntington's Disease Clinic. He has served as the chair of the Education and Standards Committee of the Academy of Neurologic Communication Disorders and Sciences.

Currently, he is the Managing Editor for the Clinical Aphasiology Conference proceedings in the American Journal of Speech-Language Pathology. We are so happy to have you here on Keys for SLPs to talk about supporting people with Huntington's Disease. Your work is so important to our profession and those you serve. I was fortunate to meet you at ASHA, and I am so pleased that you were joining us today.

[0:03:48] MdR: Well, thank you, Mary Beth. It's really great to be here. I appreciate the offer.

[0:03:52] MBH: Well, could you please tell us a little bit about yourself and your journey as an SLP?

[0:03:57] MBH: Yes. I actually became interested in speech-language pathology when I was in high school, working at a camp for children and adults with disabilities on Long Island. From that experience, I decided to apply to colleges for that specifically, and I went to Northwestern University for undergrad. After taking my first neuro class in undergrad, I realized that that was my area of interest and what I'd like to focus on. I applied to graduate school and got my master's at Vanderbilt University and my PhD.

While I was in the master's program, really became more interested in neurogenic communication disorders. Ultimately, completed my PhD with a focus on aphasia. However, after graduating, I went down to the VA Medical Center in Gainesville, Florida, where I was a practicing clinician and also an affiliate of the Brain Rehabilitation Research Center. Working within VA, I used to say that VA clinicians have to know everything, because you have to see every patient who comes through the door. You're doing swallowing, you're doing voice, you're seeing patients with motor speech disorders, with aphasia, with cognitive, communication impairments. You have to know a lot about this.

I felt like I got a great experience being exposed to individuals with a wide variety of diagnostic, a wide variety of disorders. After spending about five years at the VA Medical Center, I moved back to Nashville and became an assistant professor at Vanderbilt University Medical Center. I worked within Pi Beta Phi Rehabilitation Institute, which is Vanderbilt's outpatient neuro rehabilitation institute for two years as a clinician and a faculty member, teaching several courses in our master's program before I became the director. I've been the director now for almost 14 years.

During the time that I've been the director, I've been able to engage with a variety of interdisciplinary clinics. One being the traumatic brain injury clinic that you mentioned. But also, within the past six or seven years, the Interdisciplinary Huntington's Disease Clinic. Prior to being involved in the Huntington's Disease Clinic, I think I probably worked with maybe one or two individuals with this diagnosis. I always tell my students and some of my colleagues in the clinic that I would talk about Huntington's Disease once a year when I would discuss hyperkinetic dysarthria in my motor speech class, but I had very little experience.

My colleague, Dr. Daniel Claassen, who's a neurologist, he started the Interdisciplinary Huntington's Clinic and wanted to bring in a speech-language pathologist who could be in clinic and provide some help with differential diagnosis of folks with HD, but also some other patients who were not yet diagnosed, who could provide support to the patients in terms of their challenges with speech, their challenges with communication overall, and with their cognitive function.

The reason he wanted to bring a speech pathologist in is that he had done his training at the Mayo Clinic in Rochester, Minnesota, and worked closely with Edythe Strand and Joe Duffy, so he was used to working with SLPs who were in the clinic and were really supporting the neurologists in terms of diagnosis, but also the plan of care for future treatment. It's been really great to work with a neurologist who is so keen on working with SLPs and values our input.

[0:07:23] MBH: So good that those have paved the way for you, right?

[0:07:26] MdR: Absolutely. Although, when he told me that, I thought, ÒWell, gosh. Now, I have to live up to that ÐÓ

[0:07:31] MBH: Just a little pressure.

[0:07:32] MdR: Just a little pressure, and I don't know that I have.

[0:07:35] MBH: Well, you're still there. That should say something, right?

[0:07:39] MdR: It's really over the years, my interests clinically and in research have always been fairly broad. I have done research in aphasia, I've done research related to traumatic brain injury, and primary progressive aphasia. Over the last six or seven years, we've been involved with clinical research related to Huntington's Disease, which has been very exciting and is a population that I really never thought I would work with earlier on in my career.

[0:08:02] MBH: Wow. Well, it is such an exciting career that you didn't really change focus. You're still very much in the neurological area, but you shifted your focus, I would say, to Huntington's Disease. What a great thing about our profession to be able to try new things, learn new things, and help different people at different parts of your career. Well, thank you for sharing that. That's a very impressive career and I'm so honored to have you here today. Let's talk about Huntington's Disease. Can you just give us a broad overview?

[0:08:38] MdR: Huntington's Disease is an autosomal dominant neurodegenerative condition, which means that if one parent has the gene, then there's a 50% chance that their offspring will have the gene as well and develop Huntington's Disease. Genetic testing is done to determine the number of CAG repeats that exist on the Huntington gene. We all have the Huntington gene, but individuals who develop Huntington's Disease will have an abnormal number of repeats of the CAG nucleotide on chromosome four, which is where the Huntington gene lies.

In general, an expansion of 40, or greater CAG repeats is diagnostic of Huntington's Disease and means that there will be complete penetrance of the disease. If you have 40 or greater CAG repeats, you will develop Huntington's Disease at some point in your life. If you have 36 to 39 CAG repeats, that reflects the potential for partial penetrance, which means that some of those individuals may develop Huntington's Disease, but some of them may not.

However, it means that if you are in that 36 to 39 range and you have children, there is a likelihood, even if you don't develop Huntington's, that maybe they will in the next generation. Because it is a genetic disorder and because it's passed down, and then at least one of your parents has to have the gene, individuals who come into the clinic oftentimes have had a lifetime of experience living with an individual, or being around an individual who has lived with Huntington's Disease and has either passed from it, or is currently experiencing the challenges associated with this degenerative condition.

When individuals are diagnosed, many times they've already seen into the future regarding what the future holds in terms of the changes that they're going to experience. Individuals with Huntington's Disease will develop motor signs or motor symptoms, theyÕll demonstrate changes in cognitive function, and they will also experience changes in potentially mood, or develop psychological. They'll develop, and these don't all develop together, but they will typically all develop at some point during the disease process.

There are individuals who have Ð I'll back up and say that individuals with HD usually have onset of symptoms in their 40s, or 50s, but there are individuals who may develop symptoms in their 20s, or 30s. Then for individuals who have a significant, maybe 60 or more CAG repeats, they may develop juvenile Huntington's Disease. Their symptoms may occur when they are still an adolescent. Those individuals are present slightly differently and they tend to progress a little bit more quickly in terms of their symptomology.

You can have a wide variety of individuals who come into clinic. Most of them are in their probably 30s, 40s, 50s, or we've had some who have been diagnosed even later, but then we have another cohort who are much younger when they're diagnosed.

[0:12:03] MBH: With that younger cohort, what are the differences in symptomology?

[0:12:07] MdR: Well, obviously, they're going to be developing these symptoms earlier on. They may be more acute and more rapidly progressing. Because of when they present, they can be somewhat more challenging to deal with, because these are folks who have not fully developed. They're still in school. They're still trying to deal with adolescence and early adulthood. They're in a different phase of life than some of the other individuals who come in, who are in their late 30s, 40s, and 50s when they present.

[0:12:36] MBH: That makes sense. Okay. All right. That's an overview of the initial symptoms and the genetic variations. That brings me to think about genetic testing. There are lots of Ð There's a lot that goes into that, right, especially for someone who knows that they have the predisposition or the potential for developing Huntington's. Can you talk about the issues with genetic testing?

[0:13:02] MdR: Yes. Within our clinic, we have a genetic counselor who works with patients along with the neurologist, or nurse practitioner when they're initially being diagnosed. Interestingly, not all individuals Ð obviously, given it's a genetic disorder and people have a history of it within their family and often are aware of it and know what can happen, you get some children of individuals who have HD who want to know early on and know what's ahead of them.

Then there are a number of individuals who don't wish to know and will, essentially, deal with it when and if the symptoms do start. We have some folks who are proactive and say, ÒI want to know now, so I can plan for the future.Ó We have others who say, ÒYou know what? I don't want the burden of knowing that this is definitely going to happen and I will address it when the symptoms arise.Ó You have two groups that emerge. For children, if they're not symptomatic, they're not going to be tested until they're at least 18 or older, typically.

[0:14:09] MBH: That's because of the parents' choice, or that's a medical decision that Ð

[0:14:15] MdR: They can generally have a medical decision, right? If they're not symptomatic, they want to wait until the child is older and the individual can make their own decision about whether or not they would like to be tested, than to do that right off the bat. We have individuals, as I said, who come in and are prepared to take that next step and others who don't wish to be tested for that.

When an individual decides that they want to be tested, they'll come in, they'll go through that process. When the testing results come back, they will come back in for their follow-up visit and they will meet with the neurologist along with the genetic counselor to present and talk about what that means and explain to them what the next steps are, what resources are available, okay? Without overloading them with information.

As I said, oftentimes, they typically have some personal history with this and they understand to some degree what lies ahead. But not everybody does. Not everybody does. There are times when folks come in, it might be new to them that they have Ð that Huntington's exists in their family because the individual who carried the gene in the family, their father or their mother passed away from something else prior to the onset of the symptoms. They might say, ÒWell, yes. I remember my grandmother or my grandfather had some symptoms like this. But they didn't live very long. They also developed lung cancer and they passed away, so we didn't really know. I didn't spend a lot of time with them.Ó There are times when we have people come in who don't know much about it and they need that education.

Then for the folks who have lived with it and for whom it's a very real disease and it's something that they're maybe confronted with every day because they live with one of their parents, or they've lived with their grandparents, they need that support, that comfort to know that, ÒListen, we're with you along this journey and these are the next steps that we're going to take.Ó

I would say, within the clinic, typically when someone is receiving their diagnosis of HD and they're meeting with the genetic counselor and the neurologist, they don't see too many other providers that day. We're typically not consulted to go in and talk to them about what challenges may lie had. We give them some space to come to terms with the diagnosis. Then maybe, in the next visit, we'll go in and talk to them. Especially if there's some change in speech, language, cognition, or swallowing, to talk to them about what we do and what we can help with.

[0:16:50] MBH: Okay. How long after that initial visit is the first visit when they see you?

[0:16:55] MdR: It varies. Oftentimes, we'll come in for a consultation to see the neurologist if they don't have a diagnosis. If they determine they want to do genetic testing, they'll have that done and they'll come back within about four weeks and have that follow-up done. Then from there, they may be seen three months, six months, nine months, or a year later, depending on where they are. Are they asymptomatic? Are they showing some signs, but not motor signs, or are they showing motor signs?

Depending upon how they present, the neurologist figures out when they would like to see them for follow-up again. One of the issues we have too is that there aren't a ton of Huntington's Disease clinics around the country. There are a number of them, but they tend to be regional in nature. We have patients who come from all over to this clinic, from different states. We've had people travel to clinic from North Dakota, from California, South Carolina, to come in and come to the clinic, because they know that they're working with clinicians, providers who understand the disease.

Because of that, those individuals aren't coming every three months. They may come every six months and they may come every year, or as needed, right? If they start to notice a change, they'll make an appointment and come back in. It tends to run on a three-month, six-month, nine-month, 12-month cycle, I've seen.

[0:18:21] MBH: Well, actually, I wanted to go back to the initial symptoms. Are the initial symptoms any prognosticators of the disease progression if you have the motor symptoms first? Does that indicate anything?

[0:18:33] MdR: Good question. I'm not exactly sure. But I'll explain some of the stages here. With individuals with HD, you have folks who we know they have the requisite number of CAG repeats to determine that they will eventually develop Huntington's Disease. If they're asymptomatic, then they're in this bucket here. They're in that phase of being asymptomatic.

Then you have this prodromal phase, where individuals do not present with motor dysfunction, but they will present with potentially, a change in mood, or depression, anxiety, irritability, things of that nature. They may start to demonstrate some changes in executive function or memory that affect their ability to function in everyday life, work, at school, whatever their location is. Those folks are considered to be in this prodromal phase.

Then you've got the individuals who have motor symptoms. The motor symptoms that we see, the most prominent one is Chorea, which is a non-stereotype fluid movement, where actually, Chorea means dancing. They called it that because these individuals looked like they were dancing, even though there was no music being played. You might see it in the upper extremity, you might see it within their head, you see it in the lower extremity as well.

[0:20:06] MBH: That totally makes sense. I just never thought of the etymology there that, of course.

[0:20:12] MdR: Like, choreography. They have these Chorea form movements. Now, it's not that these start all at once and are maximal at onset. It's they gradually worsen over time. Once an individual starts to have motor signs, in particular Chorea, although they may also present with dystonia as well, and abnormal posture, they're considered to be motor manifest. Oftentimes, eligibility for clinical trials are determined based on whether a patient with HD is motor manifest because many of the treatments related to Huntington's Disease are designed to target the motor condition itself, okay.

You pose a good question. I need to talk to my neurology colleagues about the predictors of the path that these individuals will take, as to whether one shows up first, whether you're prodromal for a longer period of time or youÕre motor manifest. I will tell you that all individuals with Huntington's Disease will develop motor, cognitive, and behavioral symptoms at some point in the disease.

The onset of when those occur, I do think we aren't fully clear about. Most of the treatments that are out there are really related to targeting Ð most of the pharmacological treatments are designed to target the motor issues, Chorea in particular, and the behavioral, psychological, psychiatric issues, okay, using anti-psychotics. Those are the common medications that are used to manage individuals with HD. Then beyond that would be from a rehab perspective, what we can do behaviorally to help an individual with the symptoms that we see.

[0:22:09] MBH: All right. It really sounds like it's an individual case, how long it's going to Ð how quickly it advances.

[0:22:16] MdR: There is some thought that the higher the number of CAG repeats you have on the Huntington gene, maybe the faster this is going to progress, okay. Maybe the earlier it will present and maybe the faster it's going to progress. There are outliers there, too. That's not a perfect correlation. There are other factors that play into this as well that folks are trying to determine, too.

[0:22:39] MBH: What is the life expectancy?

[0:22:41] MdR: Individuals with HD can live 10, 20-plus, 30 years with this disease. It depends on when it starts and how quickly it progresses, to the point where they're having difficulty with swallowing and having difficulty with other bodily functions. There are some individuals who live Ð some people live a pretty good life with this as they are starting to decline and other people are more rapid in terms of their progression.

[0:23:10] MBH: I think you said when we spoke earlier, there were 41,000 symptomatic Americans and 200,000 at risk for developing. That would mean those who have been identified as having the CAG in some repeat.

[0:23:25] MdR: That could also be individuals who are the offspring of individuals with HD.

[0:23:32] MBH: Who have not been tested.

[0:23:33] MdR: They may not have been tested. Because we've seen in some families where it they've got four kids and two have and two don't. Then we have other families where all four have it. It really varies. Yes, that's how that works is that we've got the folks that we have that are known, and then there are the people who are in the generation, they might be in their same generation, but have not been tested, or they might be the next generation, may have been tested, or not been tested. Those are the folks that may develop HD.

[0:24:03] MBH: Are those numbers similar in other countries, or consistent?

[0:24:07] MdR: Good question. I'm not sure. I do not know that.

[0:24:10] MBH: There aren't any countries that stand out as having a significantly higher number that you know of??

[0:24:15] MdR: Not that I know of.

[0:24:16] MBH: Well, thank you for that overview. Is there anything else that you want to add?

[0:24:20] MdR: No, I think that covers it. Although, I know I think in the future, we'll talk a little bit about the clinic and maybe how it's organized. I gave a little hint to that, but we can talk more about that later.

[0:24:30] MBH: Okay, great. All right. Could you tell us about recent research on Huntington's Disease?

[0:24:37] MdR: In terms of medical treatments, there has been some recent work done, where they're trying to turn off the Huntington gene itself entirely, or just the mutant Huntington gene portion.

[0:24:50] MBH: Oh, interesting.

[0:24:51] MdR: I won't go into it. I don't understand all of the Ð

[0:24:54] MBH: Okay. No, that's okay.

[0:24:55] MdR: Ð around it. I wish I did. But there have been some trials that have gone on related to that. One of those trials has stopped, because of Ð that was the one turning off the entire Huntington gene. That stopped because of some side effects. There's still a study going on looking at turning off the mutant Huntington gene and following these individuals longitudinally to see if there is a Ð whether the symptoms plateau, or the symptoms get better, or whatnot, right? That's an exciting piece of information or treatment that's coming out.

There are other studies that have been looking at how medication manages the motor symptoms itself. One of the big medications that's used is called Deutetrabenazine. This is a medication that specifically is designed to improve Chorea form movements. It's also used in tardive dyskinesia. You may have seen commercials about it. I've seen them on TV related to tardive dyskinesia, but it's also used for Huntington's Disease.

We have started doing some research looking at the impact of Deutetrabenazine on speech function in particular. We're still collecting data, so the jury's still out on this. The idea is that by managing the Chorea form movements, we may see a reduction in the presentation of dysarthria in these individuals. We might see improved intelligibility as they get to this therapeutic dose. Presently, we're working on a study. We're doing, it's a simple pre-post study, looking at Ð doing a speech perceptual assessment, intelligibility assessment, as well as 3D motion capture imaging of articulation. That's done in one of my colleagueÕs labs. Her name's Antje Mefferd She does this type of research.

We're getting pre-post intelligibility, speech perceptual assessment, and 3D motion capture in individuals with Huntington's Disease, who have not taken this anti-Chorea form movement drug called Deutetrabenazine, but who are now being prescribed it. Then, once they get up to a therapeutic dose for a period of time, are coming back in to be evaluated. In addition to that, we are also doing pre-imposed physical therapy assessments, also using some 3D motion capture to see if we can pick up on any changes in gait kinematics.

[0:27:21] MBH: Okay. Can you just describe, I think I know what 3D motion capture is, but figure out, but can you just describe it a little bit more specifically?

[0:27:30] MdR: Yeah. It's really a neat tool. As it relates to speech, essentially, they're roughly the same principle for whether you're looking at movement or speech. It's just that the sensors are much smaller for speech. In speech, they place these small sensors strategically on the upper lip and jaw when the individual speaks, it picks up on the movement of the upper lip and jaw and create a 3D image of the movement of the articulators. In addition, my colleague has an articulograph where she has some sensors that are placed on the tongue and can pick up two points of contact on the tongue and can give a 3D image of tongue movement.

Combined, you can get a sense of how the articulators are working and potentially pick up on some subtle changes that may be occurring, that may account for the changes we see perceptually, or hear perceptually. As it relates to gait kinematics, there are two systems that we've used with our colleagues in engineering. One is the traditional one, where they place these ping-pong ball-like sensors, size sensors on the individual. Usually, they're wearing a Lycra suit and then they're walking and there are cameras, 360-degree cameras that are picking up on their movements and it can create a 3D image of their gait kinematics.

For this study, we figured it was going to be probably difficult for an individual with Huntington's Disease to potentially change into this Lycra suit. They have other systems that don't require that. Where you place these sensors, I think Ð I canÕt remember how many there are. Maybe 17 sensors at the ankles, thigh, wrist, elbow, and so on that can pick up on the individual's movements wirelessly and also create a 3D image of that. We're starting to now look at some of those data and hopefully, we'll have something to report soon.

The idea being that we want to see and document what changes may be occurring in speech due to these medications. For the most part, there's been a focus on physical function related to gait and mobility, but less has been done looking at changes in speech function. We've also done some research just even looking at the speech perceptual characteristics of individuals with Huntington's Disease. Typically, individuals with HD will present with what we would consider a hyperkinetic dysarthria. These folks will have imprecise articulation. They may have regular articulatory breakdowns. They may present with prolonged phonemes, so they may hold out a phoneme. They oftentimes will have variable rate.

There may be what we would consider inappropriate silences, where these longer gaps without speech that were not intended. Sometimes there are these more brief gaps within an utterance that occur. All told, that hints at a hyperkinetic dysarthria. While that's the common set of characteristics, what we recognize is that people present differently. We did a study, where we looked at, I think, we had 48 individuals with Huntington's Disease, all of whom had consistent motor speech recordings, consistent samples. We had a group of six trained raters rate each participant based on the Mayo classification system, and then initiated a cluster analysis to see whether all of these individuals fell within the same group and clustered similarly, or were there separate groups out there.

What we found is that there were four distinct groups that were in our sample of 48 individuals. They varied somewhat on their rate of speech. Some had slightly faster speech and others had slow, or what would be considered normal speech. That was consistent with what we were hearing, is that there are some individuals with HD. All of them have a hyperkinetic dysarthria. Their presentation is a little bit different. We don't know right now exactly what might be driving some of those differences. Some of it could be severity, although we tried to control for that, but there definitely were some differences in severity, and that certainly may be playing a role in this. There may be some other underlying issues that drive whether someone is going to be speaking more quickly, or a little bit more slowly, or seemingly have a more normal rate of speech. More to come on that.

I had another colleague who did a similar study, looking at those same samples. But instead of having six trained raters look at the 38 characteristics of the Mayo classification system, he used a free classification approach, where individuals listened to a sample, same 48 samples. For each sample, they would put them on a grid, and then they listened to the first sample, they put them on a grid, listened to the second sample, and well, did it sound like the first sample? Yes. Okay, I'm going to put it next to that. If not, I'm going to put it on another part of the grid.

At the end, what you find is that people, just based on their own personal interpretation of perceptual characteristics, were grouping people. In doing this work, he was trying to ask people to write notes as to what was driving their decision to place a participant in one group or another. What he found is that there was actually an overlap between what the individuals did doing this free classification and what the cluster analysis showed in the other study, which was good. It wasn't a perfect correlation, but there was overlap there. Interestingly, people were hearing, or seemingly picking out some of these features that were also seemingly distinguishing these groups in this other study.

[0:33:37] MBH: Those raters in the second study, they were untrained.

[0:33:40] MdR: Yes. They were all graduate students who had taken my motor speech course, because we wanted to have some consistency. But they had not necessarily been trained in the same way that the other group had for the other study.

We started doing some work in that space. My colleague, who I mentioned previously, Antje Mefferd, she is doing work looking at not just Huntington's Disease, but individuals with Parkinson's disease, multiple sclerosis, ALS, and seeing how these participants who are in these different diagnostic categories, who present with different diseases, how they respond to some of the typical treatments that we use for motor speech disorders. Some of the classic global treatments that we use are trying to get someone to speak more slowly, to speak more loudly, and to speak more clearly.

She's collecting data on how these different diagnostic groups respond to those treatment approaches, or at least those facilitation approaches, because it's within one session. We're hoping to get some practical data, not just about how these individuals present and how we perceive their speech, but then how they respond to different global speech modifying approaches, that being changing rate, initiating clear speech, improving, and then trying to get them to speak more loudly.

[0:35:03] MBH: Interesting. Well, we hope that you can come back and give us an update on all of these different research projects.

[0:35:09] MdR: Yes.

[0:35:09] MBH: Are there any others that you want to mention?

[0:35:11] MdR: I'm sure there are, but they're escaping me right now.

[0:35:15] MBH: Okay. All right, well, let's get into the Center of Excellence for Huntington's Disease Clinic at Vanderbilt University. That's like a mouthful, isn't it? At Vanderbilt University Medical Center. The Center of Excellence for Huntington's Disease Clinic at Vanderbilt University Medical Center. When did it start? Can you share a little bit about its history and its current focus? I know we mentioned it a little bit before, but if you could give us a little bit more detail, that'd be great.

[0:35:40] MdR: I'm not sure exactly when it received its designation as a center of excellence exactly. I know I got involved in 2016 with the clinic, which is when, I believe they had the designation at that time. If you have a center of excellence, you have to have an interdisciplinary clinic. It really started from Dr. Daniel ClaassenÕs work. He's the neurologist who's over at the clinic. He became interested in Huntington's Disease, saw that they were Ð I imagine, this was around 2014, 2015, around 40 active patients with Huntington's Disease that were being seen by neurology at the UMC at that time.

He talked to his colleagues and said, ÒI'd like to start a specialty clinic related to Huntington's Disease. I'd to start seeing these patients, if you wouldn't mind me taking over their care.Ó Then from there, he went out to the community and talked to community neurologists about this. Then from there, word spreads. When you have a clinic where individuals know, where you know that the providers are very familiar with your disease, people want to go. It has grown from 40 patients that we started off with to well over 300 individuals with Huntington's Disease, who come into the clinic each year. It's a pretty dynamic clinic.

It started off as a one-day-a-month clinic. But then, probably five years ago maybe, or six years ago, we moved to a weekly clinic. Now it's every Friday. There are, I think, about four neurologists who staff the clinic. Not every week, but they take turns throughout the month. There are four neurologists. There are two social workers who work in the clinic. There's a pharmacist who works in the clinic, a genetic counselor. I participate in the clinic, and there's a doctoral student who's completing her clinical fellowship who works with me. We have another research speech pathologist who just started who's in the clinic. Then I take students over there. There would be two students starting next week in the clinic with me.

[0:37:45] MBH: How about OT and PT? Are they part of the clinic?

[0:37:48] MdR: OT and PT are not a part of the clinic. But we incorporate that into the screening that the speech pathology team does. Right now, one of the challenges with interdisciplinary clinics, at least the way that this one is structured, and we're trying to hopefully change this in the future, which would make it such that we could include OT and PT, is that we're not billing for our time in this clinic. We're doing screenings.

I use it as a chance to Ð an opportunity to train doctoral students and clinical fellows, as well as master students. It's an educational opportunity as well. If we were to add OT and PT, we would need to have a dedicated clinic where we were billing for our time. In the absence of that, we screen for potential issues that would be addressed by an OT, or PT. The way that the clinic works is patients will come in, they will see the neurologist, and then the other folks who are involved in the clinic will see the patient depending on the patient's needs.

If the patient is having complaints of speech, cognitive, swallowing issues, then we will go in and see the patient. Or if they're having some mobility issues, challenges with activities of daily living, we will also be sent in, because we're also screening for those issues. Probably six years ago or so, my colleagues who I work with at the Rehab Institute in OT and PT helped create a series of questions, five screening questions for OT and four or five for PT. We've changed them a little bit over the years. But we came up with those questions, we came up with five screening questions for speech, that if a patient responds to any one of those with information about it being a challenge, we consider whether or not they need rehabilitation services.

From a speech perspective, we ask questions about their motor speech function. Whether they think there's any change in their speech, whether that change in speech impacts their communication with their family, or with unfamiliar listeners. Are they having difficulty with their thinking or their memory? Are they having difficulty multitasking? Are they having difficulty chewing and swallowing? Have they had a swallowing study in the past? If so, what were the results? We can get from those just series of questions, an idea about their speech, their cognitive communicative function, and their swallowing.

From an occupational therapy perspective, we're interested in whether or not they can safely get to the bathroom, or whether they need help from a family, whether or not they can get ready in the morning, bathe, and dress themselves. Whether they're experiencing any fine motor control in their upper extremity. Whether they feel fatigue or develop fatigue throughout the day. We also talk with them about whether there are any household chores that are impossible, or difficult to complete independently. Then finally, we ask about driving, because that's a big concern, too, with this disease. That's one of the biggest challenges, I think, for most neurodegenerative conditions is, when should the individual stop driving? It's a big loss of independence, but it's a major safety issue.

Then we talk about potential physical therapy needs. Have they fallen in the last six months? If so, have they fallen more than twice? Do they use any assistive devices, like a cane, a walker, a wheelchair to get around? Or do they use their furniture to walk around in their house? I think we've all seen individuals who may have some loss of balance and get around their surroundings by holding on to whatever is in their environment. We ask them about that.

[0:41:47] MBH: Oh, that's a good question to ask them.

[0:41:48] MdR: Yes, yes. You can get a lot of good information from them with that. We also talk to them about whether they've considered a need for any modifications to their home. How many steps go up to their house? Are they able to navigate those safely? Do they have to get up the stairs to get to bed, to their bedroom? Do they have grab bars in the shower, or in the restroom? Are the doors wide enough for them to get through if they have a wheelchair? We'll ask those questions.

Based on their responses, and pretty much, especially early on, if they indicate that they're having difficulty with any of those items and any of the three areas that we're asking, then we may say, ÒYou know what? It's a good idea to get a baseline assessment by speech, PT and OT, okay, so that we can figure out where you are. Maybe able to give some recommendations, provide some education, provide some strategies, determine whether there are some modifications to the house that would be advisable, and are there resources in the community that can help you attain that?Ó That is how the clinic runs.

Then from there, individuals are referred either to our Rehabilitation Institute at Vanderbilt, if they live locally or would like to come back to Vanderbilt, or we find a location in their community where they can receive care. Some individuals have difficulty because they are not able to drive, and their spouse may be working, and not able to drive them, they may need home health care to go into the home and provide that service.

[0:43:28] MBH: That makes sense. Well, thank you for that explanation. I mean, it's just really amazing to think that there were 40 people who were just being seen, and now there are 300, over 300 people who are being seen in a very systematic, all-encompassing, holistic way. Thank you for being part of that, and thank you for all the work that you do to help the people that you do.

[0:43:53] MdR: You're welcome. It's been a great experience.

[0:43:55] MBH: Well, thank you. Okay, so swallowing. How is swallowing impacted by Huntington's?

[0:44:01] MdR: Swallowing is impacted by the abnormal movements that occur. A lot of what we see, many of the things that we address in Huntington's from a speech perspective, speech-language pathology perspective are related to the motor function. Whether it be its impact on speech or its impact on swallowing. Essentially, individuals will develop some poor coordination across the systems involved in swallowing, whether it be chewing adequately, or propelling the bolus back into the pharynx, and adequately closing off the airway. While a lot of the issues related to dysphagia are related to the motor dysfunction, it's also related to the behavioral aspects of it.

In general, their system is not working as efficiently as it did before. It may take them a little bit longer to chew, harder to coordinate pushing the food back, coordinating the pharyngeal phase of the swallow, and so on. The timing gets thrown off, right? That can result in penetration aspiration, and those things. On top of that, even individuals who have Ð they might be more mildly impacted by the motor symptoms, right? They're there. They're present. They're not functioning as efficiently. They may have a mild dysarthria. It may be clear that their swallowing mechanism is not working as efficiently, but their big challenge comes from the behavioral side of things, okay?

They will inadequately chew their food. They will eat too quickly and shovel mouthfuls of food into their mouth before they've swallowed the previous mouthful, okay? They may take multiple sips from a cup and have difficulty managing the flow of liquid, resulting in coughing and choking episodes. While the motor component is real, oftentimes early on, I would say, it is the behavioral component that's the bigger issue. We try to address that in a couple of ways.

Oftentimes, the behavioral issue is driven by the fact that the person's not aware that this is a problem, right? Their family's pointing out, ÒHey, you're eating too quickly. You're not chewing your food enough. You're not giving yourself enough time.Ó The patient may not be fully aware of that. It needs to be brought to their attention, okay? Sometimes, bringing it to their attention can be, that alone can help, right? They can maybe self-regulate.

It gets to a point where they have difficulty with that self-regulation, right? We've talked even about having signs up that say eat slowly, small bites and sips, alternate solids and liquids, right? But that's a cognitive load, right? You have to be thinking about that. You have to be looking at those cues, registering those cues, and then internalizing them and doing that. That is a challenge with HD, because youÕve got this impulsive behavior, but you also have this cognitive decline going along with it, which makes it challenging for the individual to implement some of the strategies.

Some of the things that we've done to try to address this is to try to take some of the cognitive load off of this, and make it such that even if they try to eat too quickly, they can't. Or if they try to drink too much at one time, they can't. A couple of things that we do is one, try to avoid distraction, right? We tell them to, when you're eating, turn off the television, reduce conversation, focus on the food and the liquid that's in front of you. That's one thing, okay? Which can help just create a more calm environment for them, too.

We'll also tell individuals to, one, only take enough food on your plate that you can manage, okay? Instead of taking a typical American-sized plate of food, but I feel like, it's gotten more and more over the years, we take a smaller amount of food. Sometimes we'll say, ÒListen, I want you to use a smaller plate. You can use a salad plate, or you can use even a saucer-sized plate. You take food on your plate that's enough for you to eat right now. If you eat too quickly, okay, it's still a small amount. You should be able to handle it. You can always get more. You can always get more food.Ó

We also tell individuals to consider using a straw when they're drinking, so that they're not having to tip their head back and manage flow of liquid that comes from drinking directly from a cup. Rather, drinking from a straw may give them a better posture for swallowing. Their chin may be up, or maybe slightly tucked. Have a little bit more control over the bolus, okay?

For individuals for whom that's not working, we have recommended that individuals use either a specialty cup that limits how much you can take per sip. There's a cup called a Provale Cup that you can purchase online, or I think you can get it at Walmart, too, that limits the amount of liquid that you can take in any one sip. You have to bring the cup down for you to take another sip of that amount.

We also recommend what's called a SafeStraw, which is an attachment that you place a regular straw on top of. There's a small weight at the bottom. As you suck in with the straw, it allows a certain amount of liquid in. But once that weight stops the flow in the straw, you have to release suction for it to fill up again. ItÕs a great tool. We have had a lot of success with our patients using that.

I can think of one individual who came in with her grandmother. Her grandmother is very concerned about her swallowing function. Said, she'd be up in her room drinking a diet Dr. Pepper coughing every few seconds and it just was devastating to hear. We said, try a straw. The straw itself didn't really help. Then we tried the SafeStraw, and they came back and said she has not coughed since she started using it. She used it for about a year consistently and then tried just using the straw on her own. Interestingly enough, she had trained herself to take a reasonable sip. It's based on that.

She always has it, and she can use it if she needs to. But her grandmother said, I've allowed her not to use it, and she has done well. We've had others whoÕve had success like that as well. Oftentimes, what we've tried to do is set up a system where, especially if they're having some cognitive issues related to self-monitoring and awareness, to address that by removing some of the cognitive load through some of these strategies. Reduced amount of food on the plate, potentially smaller utensils, using a straw, instead of a cup.

If you're going to use a cup, using a cup that limits how much you could take per sip. If you're going to use a straw, potentially use a SafeStraw that limits how much you could take per sip. Those things, with those changes, they don't have to think about it, right? They don't have to be Ð it doesn't have to be top of mind.

[0:51:43] MBH: The family doesn't need to remind them.

[0:51:45] MdR: Yes, exactly. It takes a little bit of the load and burden off of the family, too. Those are some of the things that we address with swallowing. Of course, as the disease progresses, swallowing is going to progressively worsen. They will periodically get video fluoroscopic swallowing studies completed to find out where they are and what may need to change in terms of their diet. Do we need to go from a regular diet to a mechanical soft diet, to a puree diet? Do they need thickened liquids? Those recommendations are made. Then we talk about how to implement them.

[0:52:23] MBH: Okay. How about electrical STEM with this population?

[0:52:26] MdR: These individuals aren't experiencing weakness, right? It's about coordination.

[0:52:30] MBH: More coordination. Okay.

[0:52:34] MdR: I can say, at Vanderbilt University Medical Center, we don't use E-STEM treatment for swallowing. We don't use it at all, but we don't use it with Ð we wouldn't use it with this population, because it's not Ð the issue that they're having is not with weakness, where you are trying to stimulate the muscles to move. There's oftentimes, too much movement and incoordination of movement. What we want to do is set them up for a situation, where it's going to make it easier for them to swallow given their coordination.

Small bites, small sips, alternating solids and liquids as needed. Maybe changing, as I mentioned, some of their eating habits, so they're taking smaller portions, but eating more of those portions and some of the other compensatory strategies.

[0:53:23] MBH: That's great. Okay, thank you. All right. Well, how about Ð we have a little bit more time left. How about some therapeutic strategies for speech?

[0:53:32] MdR: Sure. As individuals with HD begin to have difficulty with speech function, as I mentioned, some of their biggest issues are this variable rate, the irregular articulatory breakdown. I would say, variability is the keyword here. What we try to do with these individuals is to slow them down. That's, of course, easier said than done. We'll use some pacing techniques for them. They might be using a pacing board. They might be using alphabet supplementation. That's one that we like to use here.

We find that a lot of times, patients will use them in some situations, but not others. Depending on their progress, how far they've progressed in terms of their cognitive function, or their behavioral function, they may need to have those supports presented by the family. It's like, ÒHey, why don't you say that again, but use your board now.Ó

Early on, we try to get them to use it independently. As individuals decline, they may need the family to step in to say, ÒHey, you need to say that again, and why don't you use your support?Ó Pacing is a big one. WeÕll, also, as individuals have more challenge with their speech and their communication overall, we'll go to using some augmented alternative communication. Typically, we're using some low-tech system. Might be pictures, or whatnot in a picture book. We might use an app if it's early on, and they're from a cognitive standpoint, we feel like they can be trained on it and use it. We might use some communication apps in order to help them communicate.

Oftentimes, we're developing systems that, as their speech declines, the family or the caregiver can use collaboratively with the patient to help communicate and give them choices to constrain what it is they're trying to communicate. We take those approaches with regard to speech.

[0:55:40] MBH: As far as any devices, they don't really have the motor control, or the eye gaze.

[0:55:45] MdR: We've had on occasion, some individuals who have presented with less of a Chorea presentation and more dystonia. They had more postural issues, not as much of the Chorea form movements with the head. Their head was a little more stable. They were able to use a eye gaze system later on in the disease as it was warranted. But that's not the norm. That was a few one-off situations where that took place.

[0:56:18] MBH: Then supportive conversation techniques with the family and the circle, other changes in implications.

[0:56:24] MdR: That's something that we use with all of Ð regardless of diagnosis. If you have a communication issue, we work on supportive conversation techniques with the family, making sure that they ensure that the patient has an avenue for communication, that they understand that it is a collaborative effort to communicate, that they may have to provide more or less support depending on the situation, that we try to train multimodal communication, writing keywords, restating what the individual has said, asking for clarification, giving them an option to respond, even if it needs to be yes or no, giving them options to respond to choices if they're trying to figure out what they'd like to eat, or what they'd like to drink, or what they would like to watch, or where they'd like to go, or how they're feeling that day, and work on that approach. That's what we do from a speech perspective.

From a cognitive perspective, and again, it depends on where the individual is and the progression, early on, we have some individuals who come in who are still working. They're still in their same profession and working at a high level. They may need to use the same types of strategies that we might use with an individual who had a mild traumatic brain injury, or a TBI overall. Where we try to leverage alarms on their phone, getting them to use their notes app to keep track of information, use their calendar function, and their phone to potentially use a paper and pencil calendar, if that's going to be more useful.

We might work on, if they're struggling with tasks in their everyday life, we may have to do some breakdown of the components of those tasks and train them up on them. Then again, that is dependent upon them having the ability to handle that type of treatment. As they progress in the disease, it becomes more challenging for them to do that.

Then we start working on what we can do in the environment. Then we reduce distractions within the environment. Can we maybe put a whiteboard up in the kitchen, or the living room that has the daily schedule for them? So, they have a chance to see that. Can we review those daily events? We know what the schedule is for that day. Can we review at the end of the day what was done, so that they have a better understanding of what they did that day and they can remember it maybe day to day, right? So, they have more awareness of what they've accomplished in their everyday life.

Early on, we focus on definitely patient-centered and focused strategies. Then as we shift as the disease progresses, we start working on Ð both working with the patient and the family as the burden really shifts more towards the family. That may be necessary for medication management, things of that nature.

[0:59:25] MBH: That makes sense. Then, as far as psychiatric issues that may develop, can you touch upon those?

[0:59:30] MdR: Yes. Individuals with HD may develop depression, anxiety, irritability. There are some other psychological issues that may arise. There may be some mania that people experience at times. Individuals with HD sometimes become obsessive-compulsive. They may become obsessive in terms of smoking, or obsessive in terms of drinking their diet Dr. Pepper's, or their Mountain Dews, right? Obsessive in eating chocolate.

We had one individual who was obsessive about drinking water and was terrified that he was going to lose weight. Would drink tons of water all day, constantly having to use the restroom. Every time he'd use the restroom, he'd feel like he'd have to replenish after that. It made it difficult for him to sleep because he was waking up every hour or so to use the restroom and then would drink a glass of water, go back to bed, get up, repeat. That was hard to try to break him of that cycle. I don't know that we ever were truly successful in breaking him off that. He was really concerned about the impact of not being properly hydrated.

Oftentimes, we don't have individuals who seemingly have a more healthy bent on it. It seems to be more focused on being obsessed about smoking, about chocolate, about unhealthier foods.

[1:00:53] MBH: Well, even water, you can have too much of a good thing, right?

[1:00:56] MdR: That's true. It can get dangerous as well. Those are some of those issues that may arise. Also, suicidal ideation is also quite common in Huntington's Disease. A good portion of individuals with Huntington's Disease attempt suicide at some point during the duration of the disease. They may not be successful in completing suicide but do attempt suicide.

There are also issues with poor decision-making that result in legal issues. We've had some of our patients in our clinic who have spent time in prison related to bad decisions that they made that were, I would say, highly likely related to their Huntington's Disease. That poses a challenge, for sure. Individuals can make poor decisions with their money, with whom they hang out with, whom they have relationships with, and that can lead to trouble sometimes.

There are similarities, certainly, amongst individuals with Huntington's Disease, but there are also a lot of differences I've seen. A lot of that relates to the environment that the individual is in, the support that they have, their socioeconomic status, their access to resources. It can really change some level of the trajectory and what's possible with the individual. Some are living with individuals who do not have HD and are capable of caring for them. I've observed families where there are multiple generations of individuals with HD who are all living together, without anybody who is not diagnosed with HD. That poses a particular set of issues in terms of who is going to care for the person who is least impacted but still impaired.

This is why we have incredible social workers who work in the clinic, who are in constant contact with the patients in the clinic, as a resource for challenges that arise on a daily basis.

[1:03:02] MBH: Wow, that's great. Well, and your clinic is a resource to all the SLPs who are listening to this. If you are anywhere in the country and you have someone with Huntington's Disease, you could refer them to the Vanderbilt Center or other centers. Do you know how many centers of excellence there are around the country?

[1:03:20] MdR: I don't. There are a number of them out there and they're in Ð I think, most regions of the country probably have an HD center of excellence. Some are involved in Ð I think all of them are involved in research, some probably more than others. I think that's a driver for some folks to come to our clinic because our neurologists are heavily involved with clinical trials that are going on internationally.

[1:03:42] MBH: All right. Well, thank you, Dr. Michael de Riesthal. I really appreciate it. We appreciate you providing this information and taking time out of your busy schedule to spend time with us. This will be recorded in the future. I will thank you from our participants as well because I know this information will be helpful for them serving patients with Huntington's Disease.

[1:04:04] MdR: Well, thank you very much very much, Mary Beth. I appreciate the opportunity to talk about Huntington's Disease and the clinic that we have at Vanderbilt.

[1:04:11] MBH: Well, thank you. We do hope that you come back to SpeechTherapyPD.com with a webinar or another presentation in the future.

[1:04:18] MdR: Great. Thank you. Looking forward to it.

[1:04:20] MBH: Okay. Thanks. Take care. Bye-bye.

[1:04:22] MdR: Take care, too. Bye-bye.

[END OF INTERVIEW]

[1:04:24] MBH: Thanks for joining us here at Keys for SLPs, providing keys to open new doors to better serve our clients throughout the lifespan. Remember to go to SpeechTherapyPD.com to learn more about earning ASHA CEUs for this episode and more. Thanks for your positive reviews and support. I would love for you to write a quick review and subscribe. Keep up the good work.

[END]
KFSP 79		Transcript

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