So our topic is Pulmonary and Sleep Manifestations of Neuromuscular Disease, Management, Transitions, and Acute Illness. We're focusing on a lot of pediatric patients, but we're also gonna talk about transition to adult care, and a lot of it's applicable to both. So my name's Minette Ness-Kochenwalla. I work at Rutgers Robert Wood Johnson in New Jersey, and I have nothing to disclose. So these are our four learning objectives. I'm just gonna focus on the first one, to introduce the clinical presentation and diagnostic approach to pulmonary and sleep abnormalities in patients with neuromuscular disease. So the first part of my talk is gonna be very physiology-based, and then I'm gonna go into a little bit of the nitty-gritty of how to diagnose these and screen these patients and when to start things. So when we talk about neuromuscular conditions, it's really, the primary disorder is a disorder of the muscle, of the motor unit, and there can be different components that are affected. So you can have the anterior horn cell, the peripheral nerve, the neuromuscular junction, but the primary feature of these diseases is muscle weakness, and if this weakness is significant enough, it can cause skeletal deformities. One of the two classics that we think of in pediatrics, at least, are Duchenne's and spinal muscular atrophy, but there's a whole variety of them, and these are just some examples. I'm gonna go through each of the muscle groups of respiration and talk about how their weakness affects specific symptoms, because I think it's a really nice way to think about it. So first, we have inspiratory muscle weakness. Now this is important because if you have inspiratory muscle weakness, you really can't inflate the lungs fully, so you have restriction, you can have atelectasis, and eventually this can lead to respiratory failure and hypoventilation. Expiratory muscle weakness is also very important, and I think probably a big part of our lives, because expiratory muscles are required for coughing. So when you can't clear your secretions, it leads to a whole other mess of problems, specifically impaired secretion clearance, mucus plugging, and we have a whole section on, we talk about airway clearance later in this, because it's such a big problem for these patients. The next group of muscles I want to discuss is the chest wall muscles. So these are smaller muscles, but they have a very important function of stabilizing the chest wall during both inspiration and expiration. However, when the chest wall muscles are weaker than the diaphragm, you get that pulling down of the diaphragm, and you get that kind of classic bell-shaped curve that you can see over here, and that forms further restrictive disease because of the thoracic cage. I also want to talk about the truncal muscles, the more posterior that stabilize the spine. So when you have weakness of these muscles, you can have scoliosis, and scoliosis, as we all know, leads to restrictive disease. So you have multiple things leading to both restriction and impaired cough. You also don't just have weakness in the thoracic cavity, you also have weakness of the upper airway muscles, and as we know, tone is necessary to maintain airway patency, and tone is typically more relaxed in sleep. So oftentimes, we'll see problems of this first when they start sleeping, right, and in some states, they'll have sleep disordered breathing, whether that's OSA, hypoventilation, and hypoxemia. And the last one I'll talk about is bulbar muscle weakness, and bulbar muscles are really important for control of saliva and oral contents, and weakness leads to aspiration. And again, you know, aspiration, and now you have impaired cough, you can't clear your secretions, and you get repeated infections that are difficult to clear. I like this diagram a lot because I think it goes through each of the sections to talk about how it leads to these final pathways, and the things that we see clinically, right? So going through neuromuscular disease causes low upper airway tone, which leads to obstructive airway disease, or OSA, which leads to ineffective ventilation, and as many of us know, this can often progress to not just being during the nighttime, but during the daytime as well. You have abnormal chest wall compliance, which leads to that bell-shaped thoracic cage, leading to restrictive disease, and also scoliosis, right? Leading to, again, ineffective ventilation. You'll have weak inspiratory muscles, ineffective airway clearance, and also expiratory muscles. And if you go on this side, you'll see the dysphagia leading to recurrent bouts of aspiration, recurrent infections, they're difficult to clear, and then you really get true parenchymal damage, and that can lead to gas exchange dysfunction. All of this leads to chronic respiratory insufficiency, whether it's from acute respiratory failure, chronic respiratory failure, hypoventilation during the daytime or at nighttime. So as far as diagnostic approach goes, there are several different guidelines we can look at to kind of guide us. So there are certain disease-specific guidelines, like Duchenne's and SMA, which I talked about being our kind of classics. However, there are many types of diseases that are not these specific diseases, right? And then there's a general guideline out of the, for children with neuromuscular disease from the British Thoracic Society. I think these are really helpful when we're talking about the frequency and type of diagnostic assessments that we're supposed to be doing, but the general principle of all of them, even if the specifics are different, is as they progress, you do more and more frequent assessments, and you do more and more frequent and invasive support mechanisms. And some of the things that we do are clinical assessments, PFTs, polysomnography, and cough peak flow, kind of depending on the age of that child. Now, we do a clinical assessment every time we see these patients, but I think it's really nice to detail out what specifically we need to talk about and make sure we cover with these patients at every single visit. So let's talk about their progression of muscle weakness. What can they do? What can't they do? What skills have they lost? Are they ambulatory, or have they been slowly losing that? Are they having problems drooling, clearing their secretions? Do they have orthopnea? How often are they getting these respiratory infections? Are they hospitalized for them? How long do they last? And just the severity of them, how long are they out of school? Do they have bell-shaped chest wall deformity? Is that worsening? What's their level of scoliosis? Is their curve worsening, their nutritional status, or if they have any tachypnea or paradoxical breathing? And I just wanna talk a little bit about scoliosis because it is so prominent in these patients, and it really generally reflects their level and severity of weakness, right? We talked about, it's a kind of easy way of assessing that. And in both SMA and Duchenne's, the severity of scoliosis has been inversely correlated with the vital capacity. So I just wanna talk about kind of what happens here. So you have the lateral curvature of the spine, and then that displaces the thoracic cage and diaphragm. That leads to asymmetric inspiration, that leads to decreased chest wall compliance, and that all limits vital capacity. And I'll talk a little bit later about vital capacity and how that's related to mortality and frequency of infection. So I think that's really important. And also, scoliosis is something we can act on, right? So that's why it's really important to monitor these things. This is just an image I took from the Duchenne screening guidelines, and it breaks it down into different stages based on the level of ambulation. So there's the ambulatory phase where you're seeing them less often, doing once yearly forced vital capacities, you're doing sleep studies, and you're performing extra immunizations. But then as they're in the early non-ambulatory phase, you start to ramp that up to twice yearly. You do more testing. And when their vital capacity is less than 60% of predicted, you start doing lung volume recruitment maneuvers. And in the late non-ambulatory phase, that's when you really start more of these nocturnal assisted ventilation, and eventually going to daytime ventilation as well. As far as sleep disordered breathing, there are different types of sleep disordered breathing in this group. It can be hypoventilation from weakness of the inspiratory muscles, OSA, from lower upper airway tone, or a combination. But the clinical presentation is really the same as with any other patient that you would have. You'd have disturbed sleep, morning headaches, daytime sleepiness, fatigue, and poor concentration. But we are going to act on these much more intensely than we would, say, another person. And I think the reason that is, and why it's so important, is because it's really shown survival benefits. And I don't know how many of you out here are in pediatrics, but to show survival benefits in pediatrics is quite difficult, because luckily children don't die that much. And so this is a very old study, but it shows during these different decades how many of these patients died. It's their survival curve from the Kaplan-Meier curve. This curve out here, and granted it's a small sample size, shows those that had nocturnal ventilation. And this has been reproduced as well, but nocturnal ventilation improves mortality, improves survival, and that's just really important. And this has been really incorporated into these guidelines. So if you look at the sleep medicine guidelines, when you start some therapy, it's greater than 25% of the night with CO2 greater than 50, or greater than five minutes with a SpO2 less than 89%. However, for Duchenne's, and this is where it's guideline specific, it's only for 2% of the night, right? So these, if you read these, it's or greater than CO2 greater than a baseline for 2%. And that's a lot less. That's a lot easier to meet those things. And that's because we know, based on their disease progression, they will get nocturnal assisted ventilation. We know that. And we know that there's survival benefits. So it's better to just start it early as soon as you're starting to see signs, because unlike other children, they will not get better. And of course, when we initiate, we initiate non-invasive with a backup rate. You always do that. There's no point in really starting CPAP for these patients where you know that they're gonna need that. And you can start this either when the sleep disorder is present, or when their forced vital capacity is less than 50% predicted, or if their maximum inspiratory pressure is less than 60. And then there's different guidelines for when you start daytime as well. The other reason to think about initiating non-invasive, especially in smaller patients, right, like so our SMA patients, is you want to avoid that restrictive disease that comes with a bell-shaped thorax, right? And it's very hard to, you can't correct that easily with surgery, like a scoliosis. So if it's starting to develop for these young babies, it may be time to start non-invasive to prevent worsening of that. Spirometry can reliably be achieved at around six, depending on, you know, your patient and how cooperative they are. But if they're weak, sometimes it may be difficult to do force maneuvers. I think a little thing that's helpful is oftentimes these things are based on height, and sometimes that's very difficult to measure in these patients, especially if they're non-ambulatory. And you can use arm span or ulnar length as well as predictors of height. So you can do seroforce vital capacities. You may consider doing supine, which could be indicative, which could tell you more about diaphragmatic weakness. Peak cough flow and tidal, and maximum inspiratory and expiratory pressures. When I was going through this, there's a lot of data on this in the adults and much less in children. And I think, you know, that kind of makes sense. You have different things that they're able to cooperate with and things like that. And what you may see is you may see restrictive disease, you may see hyperinflation, reduced force vital capacity, and your maximum inspiratory and expiratory pressures are usually decreased, which again goes along with our indirect sense of cough strength, and maybe we might need to help and start doing some assisted coughing. I mentioned this earlier, but vital capacity is really important because there's a strong correlation with both survival and the number of chest infections. Right, and so it's really important that we do everything that we can as early as possible to prevent this decrease. And you can see here with Duchenne's, the long volume recruitment maneuvers is at the highest benefit when the FEC is less than 60%, and then when it's a little bit lower, we start the assisted coughing. As far as cough peak flow goes, one of the easy ways we can use to assess this if our patient is old enough, is to do a cough peak flow. Healthy adults and children greater than 12 usually have a cough peak flow of about greater than 400. When it's less than 270, they're vulnerable for respiratory infections, and then when it's less than 160, we really wanna start thinking about those other techniques too, whether it's NIV or it's augmented coughing. And then this is just a nice kind of summary slide of all of the things that we do for these patients. I think a lot of us do these things, but I think the general principle of screening them as they're worsening, screening them more, and starting these non-invasive techniques early so that they have a longer and more fulfilling life. And just as a summary, there's a wide, wide variety. So we have some guidelines to help us with SMA and Duchenne's. We have some general guidelines, but a lot of those can be extrapolated. Majority of these problems cause respiratory insufficiency, it causes sleep problems, and screening and appropriate interventions can not only improve their quality of life, but their survival. All right, hello everyone. Thanks for attending the last session of a conference in Hawaii. I'm happy not to just be giving the talk to the other presenters, so thanks for being here. I do adult pulmonary and sleep medicine, so I'm actually gonna talk about one of my patients that I see in the outpatient setting, and use that case to illustrate some principles of management of acute onchronic respiratory failure in neuromuscular disease. I think I included one question, it's a silly question, but if you would like to participate, you're welcome to scan this QR code, although when you see what the question is, you'll be disappointed, I promise. All right, so like I said, I'm actually gonna be just using a case of a patient that I see to illustrate some of these important strategies for managing acutely ill patients with neuromuscular disease coming in with acute onchronic respiratory failure. So we'll talk about initiating noninvasive ventilation, we'll talk a little bit about the decision to use noninvasive versus invasive ventilation, and then we can also talk a little bit about tracheostomy as well. So the patient that I have is a 58-year-old woman, she's pretty healthy in general, she has hyperlipidemia and scoliosis, and she came to see us as a transfer from another institution. So the story was that over months to years, she had kind of had this very insidious onset of weakness and shortness of breath, and she was having generalized muscle atrophy. She didn't have any real other symptoms, but she had kind of thought that all of these symptoms were due to her scoliosis, which was pretty severe. So she came into the hospital, and like I said, it had kind of been the subacute presentation, so her symptoms had been going on for a while, but she ended up just being so weak and so short of breath that her family was really concerned about her, and so she came in. And she was saturating 75% on room air at the time, and then her ABG showed that she had hypercapnia as well. This is her chest X-ray. So like I said, she has pretty significant scoliosis, and obviously this had been known for a long time, and so I think that's why she didn't present sooner, is because she just thought that this was a result of the scoliosis. So here's my polling question. What is the next best step in management for this patient who's coming in with shortness of breath, weakness, hypoxemia, and hypercapnia? So A, trial of supplemental oxygen, B, trial of noninvasive ventilation, C, intubation and mechanical ventilation, or D, initiation of negative pressure ventilation? All right, I'll just go forward. Good job, guys. Obviously, the management strategy might depend on some of the details of the case, but the point of this question is just to say that for the most part, people with neuromuscular disease who are coming in with acute on chronic respiratory failure deserve a trial of noninvasive ventilation before moving on to other strategies that might be more invasive and cause more side effects. So most people who are presenting with acute respiratory failure and neuromuscular disease are gonna have some of these conditions. Obviously, there's a wide variety of things that can happen, but Guillain-Barre syndrome, myosinic crisis, and then people who are chronically hypomentilation and have some sort of an exacerbation, so ALS, Duchenne muscular dystrophy, and then just basically any other disorder of neuromuscular system or the chest wall. So you might make the choice between invasive ventilation versus noninvasive ventilation, and obviously, this has to be on a case-by-case basis, but these are just some of the things that you can consider when making that choice. So invasive mechanical ventilation is going to protect the airway. You're going to have better control of their minute ventilation just because you don't have patient tolerance factors or mask leak or anything like that to deal with, but on the downside, there is increased risk of ventilator-associated pneumonia, barotrauma, laryngeal or tracheal stenosis, weaning failure, and prolonged vent dependency. So patients with neuromuscular disease, obviously, when you intubate them, you have to give them medications to paralyze them and sedate them and things like that, and this can cause muscle weakness in the general population, which can sometimes be a big deal, and for patients with neuromuscular disease, you can cause even more side effects with that because they have baseline neuromuscular weakness. So that's something that you don't really want to take lightly. I think if possible, ideally, it would be great to just non-invasively ventilate these people. With non-invasive ventilation, a lot of the time you can restore normal minute ventilation. Many of these patients don't have chronic lung disease underlying, so they have normal gas exchange. They just need help moving the chest wall, and so non-invasive ventilation can actually do a really good job in a lot of cases. It gives great support to their respiratory muscles, so you can really move that diaphragm, and you can also prevent collapse of the upper airway as well. So if someone has obstructive sleep apnea or something like that, no problem. Non-invasive ventilation can handle that. You can also recruit the alveoli and normalize any VQ mismatch that might be going on, but the problem with non-invasive ventilation is that the patient is awake. They can have problems with tolerance, especially if you're having to use high pressures. There can be mask interface problems with a lot of leaking, and especially in patients with a lot of ball bar symptoms, sometimes it can be very, very challenging to get a good mask seal and to make them comfortable with an IV. One of the main reasons to choose non-invasive ventilation over mechanical ventilation is the fear of extubation failure, as I mentioned before. Mechanical ventilation is associated with decreased muscle weight and alterations to diaphragm function, which, like I said, is not fantastic for any patient, and much less patients with neuromuscular disease who already have that at baseline. And then, as I mentioned before, too, patients with a lot of ball bar symptoms sometimes have problems controlling their secretions. They might have atrophy of their facial muscles. They might have facial muscle weakness, problems protecting their airway, dysphagia, and so sometimes it is actually really difficult to get tolerance in that situation simply because of the mask interface. And there's always a risk of acute decompensation because if you're trying non-invasive ventilation you just wanna make sure you don't get to the point where you're intubating them in a crisis. There are some guidelines for initiating non-invasive ventilation in the acute settings. The British Thoracic Society, I think, has some pretty good tips. They state that nearly all patients who are acutely ill with neuromuscular disease should undergo a trial of non-invasive ventilation. I think that's, for the most part, true, unless, obviously, someone is in a real crisis situation. Preferentially, you should initiate this early before they need it, even if they don't have hypercapnia. If the vital capacity is less than a liter and the respiratory rate is getting up there, better to initiate non-invasive ventilation early and prevent decompensation than wait until they're hypercapnic and really struggling to breathe. A full-face mask is the preferred initial mask that should be trialed. You can use nasal masks in some situations as well, but again, a full-face mask is probably more reliable in the acute situation. It's okay to start with a pressure-targeted mode. I think a lot of patients, especially if they're naive to non-invasive ventilation, will usually target that or tolerate that a little bit better, especially if they have an intact respiratory drive. Obviously, you can use a volume-targeted mode, but okay to start with BiPAP, ST, or something like that. And then mechanical ventilation should not be delayed if non-invasive ventilation is failing, providing it's within the patient's wishes. So another thing to consider. A lot of patients who are chronically ill, particularly with ALS, might not want to be intubated, and so it's important to have that information upfront when the patient comes in before you're asking their family in a crisis if they want to be ventilated or not. And despite all the risk factors associated with mechanical ventilation, if non-invasive ventilation isn't working and they need it, then they need it. And then we already talked a little bit about bulbar dysfunction and problems that that can cause with non-invasive ventilation. And then the other thing is, if you initiate non-invasive ventilation when the patient comes in acutely decompensated, generally they are going to need that in the outpatient setting. A lot of these patients might get better and improve, but I don't think I can think of a situation off the top of my head where I've seen someone come in acutely ill, initiate non-invasive ventilation, and then not send them home with it. Most of these disorders that we see are progressive, even if they're slowly progressive. And so if they're acutely decompensating, it's probably a sign that they need long-term chronic ventilation. When you initiate non-invasive ventilation, it's important to use a mode with a backup rate. Patients with neuromuscular disease are weak, and since the non-invasive ventilation modalities sense airflow as the trigger to trigger inspiration, if the patient's not strong enough to generate enough airflow for the machine to trigger, then they can be trying to get a breath and not getting one. So always use a backup rate. You might need a higher EPAP in a patient with bulbar disease or a patient who has OSA at baseline. Otherwise, fine to start with an EPAP of five. Oxygen saturation should typically be maintained between 80 and 92%, so as not to encourage further hypercapnia. And then you want to target at least six to eight milliliters per kilogram ideal body weight for ventilation. Most of the time, you will need a delta of at least six centimeters of water. I usually don't. This is usually the minimum delta that I start with because it's hard to give anybody really decent ventilation with a delta less than that. These comfort features, I guess, or these smaller, what's the word that I'm looking for? These little settings on the non-invasive ventilation are really, really important in patients with neuromuscular disease. Probably the time that you will use them most is in this patient population. So the trigger sensitivity, this is the amount of flow that is required to switch from the EPAP to the IPAP. Again, extremely important in neuromuscular disease because a lot of these patients are not strong enough to tell the machine that they want a breath. So if you set the trigger sensitivity higher, that means that the patient will have to generate less effort and less airflow to trigger a breath. So in neuromuscular disease, I always start with a high trigger. The machine will come with a default medium trigger, but I always change it to high. It's important, too, when you're writing a prescription for non-invasive ventilation in the outpatient setting, always write exactly what you want for the trigger and the cycle and the rise time because otherwise the vendor is just gonna give you default settings and it's gonna be medium trigger, medium cycle, and a rise time of 150 milliseconds, which are all inappropriate settings for a patient with neuromuscular disease. The rise time is the rate of pressurization or the amount of time that it takes from the device to go from the EPAP to the IPAP. So using a shorter rise time is more appropriate with patients with COPD. It does a really good job at offloading the respiratory muscles, but when you have a patient with neuromuscular disease or chest wall stiffness, then if you give them the pressure too fast, they'll feel like they're being hit in the face with the pressure. It's very uncomfortable for them. And also, you'll get better recruitment of adalectatic lung with a longer rise time, so that's another advantage. The rise time is usually set between 150 and 600 milliseconds, and when we refer to a longer rise time, that is usually gonna mean at least 300 milliseconds. I usually start with about 350 and kind of go from there. I usually will just push the rise time as long as what's comfortable for the patient, because again, you get better recruitment with a longer rise time, and so I think it's advantageous to just go with a longer rise time up front, especially if they're acutely ill. So the inspiratory time, this is a little bit different depending on what machine that you're using, but it's basically the limit on the time spent in the inspiratory portion of the cycle. So again, in certain modalities, it applies to all breaths, or it might only apply to the spontaneous breaths that a patient takes, or the mandatory breaths, I'm sorry. When you're in pressure control mode, the inspiratory time is fixed, but if you're not in pressure control, then how you set it is actually a range, a T.I. min and a T.I. max. And so what happens is that you set the minimum length that a breath can be and the maximum length that the inspiration can be, and then between those times, the machine does a calculation on airflow, and once the airflow starts to diminish beyond a certain point, it will cycle to the EPAP. And so again, this is how you allow a certain time spent in inspiration, which in neuromuscular disease, you're going to want them to spend a little bit more time in inspiration than expiration. In patients with COPD, you're gonna want a short time in inspiration because they have a long expiratory phase. It's kind of the opposite for neuromuscular disease. You want them to spend longer in inspiration so that they can get good recruitment and so that they're comfortable as well. So the other thing besides inspiratory time that's really important is the cycle sensitivity. And so this controls when the device cycles out of the IPAP. And again, the device is going to detect a certain amount of decrease in flow between the T.I. min and the T.I. max. In neuromuscular disease, you might want to consider setting a higher T.I. min, so one or 1.2 milliseconds. And then you also want to set a lower cycle sensitivity. So again, just favoring keeping them in the inspiratory time longer, you're gonna want to prolong that breath. So when you set a lower cycle sensitivity, the airflow is gonna have to drop more before the device cycles into the expiratory phase. All right, so I'm gonna actually have to go a little bit faster here, so I apologize. So we started the patient on non-invasive ventilation in the hospital. These are her sittings, kind of just along the lines of what I was just discussing. When you start someone on non-invasive ventilation, it's important that you do monitor them. You want to monitor their oxygen and their carbon dioxide as well. The carbon dioxide is probably perhaps the most important part. Unfortunately, we don't have a great way to do this, which is widely available. Some places do do transcutaneous carbon dioxide monitoring. You can do end-tidal CO2 because it's not accurate when somebody's on non-invasive ventilation, but the gold standard is gonna be ABG, which is painful, so you don't want to do it that much. And then patients should be monitored in a higher level of care. So, this patient went on to be diagnosed with nemeline myopathy, and she was intubated for airway protection at the outside hospital, and then they extubated her. I'm not exactly certain what happened, per their notes, but they extubated her, she failed, and so they intubated her again. And then time went on, she was intubated for almost two weeks, and then we ended up having to utilize tracheostomy. So, this is important, as I said, when you're having difficulty weaning the patient from mechanical ventilation. It is to some extent determined by the patient preference. There are a lot of patients who do not want a tracheostomy under any circumstances, so that's another thing that's really important to talk to patients about ahead of time, what is within their wishes. Sometimes we do this for difficulty with secretion management, intolerance to non-invasive ventilation, or if they need ventilation 24 hours a day, then sometimes tracheostomy is just a little bit more practical than trying non-invasive ventilation. These are more for the outpatient setting, but I did want to just highlight that CHESS came out with these guidelines for management of neuromuscular weakness earlier this year, so hopped off the presses. And so, back to my patient. She was eventually discharged home with her tracheostomy. She came to see me in clinic. Oximetry looked beautiful. Her PCO2 was 45, and she was doing great. For some reason, she was put on the SIMV mode while she was in the LTAC, which I wasn't really certain why. That's a very odd choice for home mechanical ventilation. But she was tolerating it really well, and her oxygen was great, carbon dioxide was great, so I actually left her on it. So, she is my sole patient on SIMV at home. But if it ain't broke, I don't know. So, she actually wanted to know if she could switch from mechanical ventilation to non-invasive ventilation. And pneumonia myopathy, it can be progressive, slowly progressive, or I have some patients who have been stable for years, but I ended up having a chat with her neurologist, and they just felt, because of her subacute progression over the past years, that it probably would not be wise to decannulate her, and that she had a significant risk of needing tracheostomy again. So, we decided just to leave her with a tracheostomy. She was doing really well with it, too. She was getting infections, and she was tolerating it great. So, she's out there with her tracheostomy on SIMV, doing great. So, take-home points. Always consider non-invasive ventilation as an initial management strategy for patients with acute on-chronic respiratory failure in neuromuscular disease. And then, really be aware of these specific settings that we can utilize to facilitate effective ventilation and patient tolerance to the device, the trigger cycle, and rise time. And then, it's important to weigh the risks and benefits between non-invasive ventilation, mechanical ventilation, and tracheostomy. Thank you. Good afternoon, everyone. My name is Abdullah Ismail. Just putting up my presentation here. Thank you all for being here. Perfect. So, I'm Program Director and Associate Professor at Loma Linda University in California, Program Director for the Respiratory Program. And today, I'll be going over, right now, airway clearance management and tracheostomy care. Over here, we can see the objectives that I'll be going over in this presentation. Kind of going over normal airway clearance physiology in NMD patients, and then go over, a little bit over the airway clearance management, as well as differentiate the different methods for airway clearance in this population. As well as discuss the evidence-based recommendation for airway clearance that we have out there so far. Right, so when we take a look at the mechanism of airway and how it all started from a pathophysiology standpoint, we know that if we take a look at A over here, this is where our irritation phase starts, right? Then followed by our inspiratory phase, we take a deep breath, and then after that, we have the compression phase, right? And then the explosion phase. And if we have any impairment in cough, in that kind of physiology or process in NMD patients, this is when we have, for example, inspiratory muscle weakness as a cause, or bulbar dysfunction. So, why airway clearance matter, right? This is an article that was published in Respiratory Care Journal. If we take a look at the boxes that we have here, I like the figure in here, that in the dark gray, we can see here the progressiveness of the NMD. From the left here, we have patient with normal breathing, and then as they get worse, their inspiratory muscle, they start to kind of have weakness in there, bulbar muscle weakness, and this is where our evaluation and assessment at intervention starts, right? We evaluate swallow, cough, sleep, and then we try to kind of intervene by going over airway clearance techniques. And here, to evaluate the effectiveness of the cough, if it starts to kind of go or get worse, that's when we see an effective cough clearance that might lead into atelectasis, recurrent pneumonias, and infections, and et cetera. And this is where the airway clearance kind of model or technique intervention occurs. In a recent article that was published for the ATS core curriculum, talking about pediatric pulmonary medicine and updates in pediatric NMD, same thing when we take a look at the model in here, or this figure, pretty much we see the same thing when it comes to clinical assessment for these patients and effectiveness of the cough, as well as measuring that by looking at the cough peak flow that once it starts going down less than 270 liters per minute, and that's when we start to kind of think about using some of the devices, such as cough assist devices, or hypertonic saline bronchodilators, and asthma, et cetera. And in this figure here that was also published in Respiratory Medicine 2018 by Chatwin and colleagues, about airway clearance techniques in NMD patients, we can take a look at the different types of diagrams here that, depending on the device that you use, so you might approach it from a proximal ACT using cough augmentation model or sputum mobilization. So if we're using cough augmentation devices such as providing assisted inspiration, such as single breaths, NIV, air stacking techniques, all of these are methods for assisted inspiration, or you can do assisted expiration, such as the manual assisted cough, mechanical accephalator, or assisted inspiratory and expiratory, such as the MIE mechanical accephalator, accephalator device, or the cough assist that most of us have in our facility. Or the other way around, which is the other approach, using a peripheral ACT model, where we try to kind of mobilize the secretions, you know, using the high-frequency chest wall, or the VEST therapy chest wall, and then strapping all these different models to mobilize secretion, hopefully to encourage the patient to cough at the end. And the whole goal is to try to kind of raise lung volume to vital capacity, right? This is the whole idea, and I'm sure that you all have seen the IPV devices, or the high-frequency chest wall to do these devices as a model for mucus mobilization. In a study that was done in 2018, which was a prospective RCT in CP patients, six to 18 months, they tried to compare the efficacy in reducing hospital length of stay, as well as improving atelectasis between two groups, right? So MIE, as well as CPT. And as you can see here, the patient population, the N was pretty small, 22, 11, and 11. And what they found in this study, as we can see here in the table, that hospital length of stay was not significant. So nine versus 12, the CPT versus the MIE. The therapy time, pretty close to each other, although it does show borderline significance, but three versus 3.7, you know, two minutes, from a mean perspective. And even if we take a look at the hospital length of stay, when they tried to kind of look at the outcomes in the subgroup, the group that developed atelectasis, nine versus eight, there wasn't that big of a difference, although the CPT group had about, close to three days more for the hospital length of stay. And this is part of the challenge, that when you try to kind of look at the literature for these studies, there aren't really a lot of studies when it comes to NMD and airway clearance model and differentiation. So here's a study that was published in 2017, looked at, tried to kind of compare high-frequency chest wall oscillator versus IPV in pediatric patients with tracheostomy. And in this pilot study specifically, they, it was a retrospective study and was only single center, based on the population that they had. And they followed these patients for about, you know, kind of two years. And what they found is that between the two groups, again, it's a low end, as we all know, but they found kind of statistical significant when it comes to a lower track respiratory infections, as well as respiratory illnesses between both groups. But still, it is one study that can maybe shed some light on the need for future research in that patient population. And that's a lack in the literature that is available out there. Cough peak pressure, MIE, it has been used and it comes up in most of the guidelines. And it is recommended that we try to kind of consider the use of MIE, where once we see the CPF starts to kind of go way much below 160. And the goal is to raise it above 160, right? This is the goal. In pediatric patients, sometimes using the history of recurring pneumonia, or any kind of qualitative clinical assessment, it can help us in the assessment of the cough for this patient. And as I mentioned, we don't have a lot when it comes to infants in pediatric, and we all know that the challenges with that. And all of that, especially when you use the MIE devices, you want to be careful, be cautious, not to cause any barotraumas or central airway collapse with this patient population, as it has been reported in the literature. One area that has not come up a lot, but we have to kind of pay attention to it as clinicians, is equipment cost. So all of these patient populations, in this study here, they tried to kind of look at the cost for the equipment that these patients are on. MIE, the vest, IPV, portable suction unit. We don't think about that sometimes as clinicians. And that's when we maybe should take a pause and think about, can patients afford it? Can their insurance afford it? Most studies that try to kind of look at the cost were focused on CF patients, but I think this is an area that we have to look at in the future to see if we can do a cost assessment analysis on how much these patients, I mean, can they really afford it, and how much does it cost them? Tracheostomy care, as we know, MIE is possible when we have patients who have tracheostomy, but it comes with its own challenges. We have to think about a skin care breakdown that has been reported a lot. Education, educating the family and caregiver to be part of the whole team model. So that way we can all reach a team-based approach. You know, the physician, the respiratory therapist, I mean, the physical therapist, the family, caregivers, all of that is key to have a successful tracheostomy care for that patient. I mean, did we select the right tube? Because if it's too small, that might cause a plug-in. We have to think about the AC tube length as well. So team-based approach to reach what we call, you know, shared mental model, decision-making ability as a whole team is crucial. Then the question comes to pharmacological airway clearance techniques. Always thinking about the drugs. In a study, AARC published a clinical practice guidelines on the effectiveness of pharmacological airway clearance therapies in hospitalized patients, and what they found, or what they reported based on these clinical practice guidelines is that the use of aerosolized agents to change sputum properties or improve airway clearance cannot be recommended, and all of that because of insufficient evidence. Insufficient evidence in the literature. And even if we take a look at the British Thoracic Society guidelines for airway clearance, most of the evidence that have been reported are low-level evidence at C, and even the most recent chest guidelines that was just published, you know, there's a low certainty of evidence when it comes to the use of ACT techniques, and I would argue that most of that is because there aren't sufficient studies out there for that selected patient population when it comes to the use of different devices and the effectiveness of each device, et cetera. So in summary, various methods can be used, as we all know, when it comes to approaching the ACT to NMD patients with the goal of raising lung volume to vital capacity, we always have to think about that yes, MIE is the most common modality that is being used, such as even including IPV, and we don't wanna forget about the CPF values in children. That's when we have to kinda, we can use that as a cutoff variable to, or as an indicator for us to know when should we start thinking about implementing different ACT strategies. And when we think about team-based approach, there was a talk that we gave a couple days ago here in CHEST about, you know, how do we reach shared mental model, right, as a whole team, especially if you have multiple professionals, including family members. This is where we have to think about, you know, talking with each other, having an interdisciplinary approach where we all are in agreement for next plan, next phase, especially when we think about transition of care, which is the next talks that we're gonna talk about in a minute over here by my colleague. And that summarized the talk on ACT, and now moving on to transition of care. Thank you. Thank you again, everyone, for still being here. My name's Courtney Gishu, I'm a pediatric pulmonologist, ooh, sorry, at Nationwide Children's Hospital in Columbus, Ohio, and I'm gonna talk a little bit about some of the transitions in neuromuscular disease and some of the specific challenges that we face in this particular population. So that is me, and I still have no disclosures specific to this, so really we'll talk about some of the history of pediatric transition and the guidelines on transition of care in pediatrics up to adult care providers, talk about some of the specific challenges posed in those with chronic disease, and then specifically those here with neuromuscular disease. So to think about this, first I'll talk back in sort of when people started talking about pediatric transition, and this is dating all the way back to the 1990s, so Blum and his colleagues in 93 initially said that really transition should be this purposeful and planned movement of adolescents with chronic physical medical conditions from child-centered to adult-oriented healthcare, and that's something that we all sort of think about in a lot of our clinics, particularly if you're seeing people with multiple chronic diseases, right? And I think, as you can see here, the goal is to provide really just appropriate care, is what I would say. And so this was a thought brought on, again, in the early 90s, and people talked about it for a decade or so, and then more groups got involved and started being sort of more proactive in trying to educate more people in transition. So then a couple decades later, just recently in 2018, there's this group called Got Transition, and if you see on the bottom, there's a website there that has a lot of helpful tools we'll walk through during this talk, and this group really talked about how we should be not only transitioning those with chronic healthcare needs, but really the same kind of definitions, but with or without transferring to a new clinician. So I think it's important to point out, a lot of our pediatric care centers have many adult patients that we still care for. So even if we're not transitioning somebody to an adult provider or a different hospital, a different clinic, we should start thinking about how we're approaching the patient differently, and really, again, more of that adult-centered model as opposed to the child and family-centered model for these patients. And again, to highlight here is now, in more recent years, we're talking about not only transitioning our kids with chronic disease, but also those without any special healthcare needs. So both the Department of Health, the FDA, and also the American Academy of Pediatrics have a lot of talk about sort of when we should be having some of these discussions, starting transition really in early adolescence, so starting age 11 or 12, we should start talking about this with our patients and families, which is something that I think a lot of us, and talking with my colleagues, we don't really start that early on. And the American Academy of Pediatrics put out a couple of policy statements on saying sort of how old is too old, or what's the upper limit of pediatrics, right? And in their most recent iteration of this, which is back in 2012, actually, they said 21 years of age is sort of the upper limit of pediatrics, with a caveat that if you have special healthcare needs or multiple chronic conditions, that we can still sort of make adjustments and be seeing you in PEDS clinics, as long as we're sort of adjusting our focus of care. So some of the other big groups in medicine, so the American College of Physicians and the American Academy of Family Physicians sort of got together and got on board with the American Academy of Pediatrics about a decade ago, to make sort of this outline of how do we transition these patients? And that's where we'll start to see some specific guidelines I'll walk you through. So the one model we'll talk about throughout this talk is the six core elements of healthcare transition. And again, this is a really sort of helpful kind of frameset to look at how we can do this effectively. So great ideas, right? How do we do this clinically when we're in real-time practice? In reality, we should be doing this often, so it's not just a one-time handoff of the baton. Here's your 18-year-old into the adult clinic, right? So we should be having this conversation multiple times. Really, it should be on a yearly basis every time we see these patients. So early adolescence, we should start talking just about the fact that us, as a clinic or as a group, are going to be doing this, and here's what we're gonna be looking forward to in the next decade, introducing the idea and sort of getting the family's input and buy-in on how they'd like this to look. And then over these next 10 years, talking about the patients, about really them understanding their disease and their disease process. In some of these patients, it's really important if they have a poor prognosis or a shorter lifespan that at some point, as we're getting along this process, they and their families are understanding what their prognosis looks like and how might their life be looking different. It's really important to note that they should have a knowledge of what their medications are, what some of their side effects, and contraindications of other medications. When are they gonna start coming to clinic and answering questions on their own, telling you which medicines they're taking and why they're taking them? I think we do a nice job with this in some of the cystic fibrosis clinics where we started more formal transition processes, and a lot of people actually have quizzes on their medication, their understanding of this, and on their fertility. So things to think about, especially if we have some folks with genetic conditions. As they're approaching adolescence or later adolescence, we should be talking about what are their genetic risks? Are they at likelihood to pass this down to their children if they can reproduce? Things like their psychological well-being. I think a really important topic to think about is legal guardianship. So thinking about what is the cognitive level of our patients? So if they're cognitively intact or not intact, do we need to have somebody else who's making healthcare decisions for them once they turn 18? So as I mentioned, there's sort of the different steps that are recommended here as a nice timeline, I think, to look at how this is recommended to be done. And of course, it's not gonna be exactly the same for every patient we see and every disease process, but really, as you can see, there's just a gradual increase in the knowledge that you're giving and sort of the discussions that you're having. Ultimately, working on transferring to that adult care provider or different center, and then once they get there, the adult providers have really sort of the responsibility also of integrating this young adult into the adult care because we know the models are so different from peds to adults. So what's the big deal? Why should we be thinking about this? Well, we know that in those who have a transition process in place, they've had reports of improved adherence to care, so showing up to visits more, taking medications more regularly, improved perceived health status and quality of life, and even self-care skills. It's been shown that there's actually less gap between seeing the pediatric providers and the adult care providers if there's been a transition process formally in place. And then, of course, we see things like decreased hospitalization rates and even decreased healthcare costs when we've had transition processes. But interestingly, when we think about, we had a survey of those youth with and without special healthcare needs and how many people felt like their physician team had actually supported them in the transition process, only 15% in both groups there felt like there was support from their medical team in the transition process, which really just speaks to how much we need to continue this conversation and be thinking about it from a provider side of things. So you've seen this sort of one through six already on the timeline of how we do this transition process, and then I'm gonna focus in a little bit more on some of the tools that are offered. So I really like this because you can see that there's three different ways or three different kind of groups that can apply this to their patients. So focus more on the family practice and pediatrician side is on the left side, really how do you transition the youth to an adult healthcare transition. And then the middle part is what I think is really interesting and I think personally we'll use a lot in our group moving forward as we keep a lot of our adult patients at our center. So how do you transition an adult to the, or a pediatric patient to an adult approach without changing clinicians, and then tools for our adult providers, again on how to integrate these folks into our clinics. So in youth without special healthcare needs, we know generally in the teenage years that they're gonna be in generally a stable health. If they don't have other diseases, they're gonna have increasing independence. These are times when they're gonna be thinking about going to college, moving out of the home, really gaining independence all around, right? And they may start coming to appointments alone, but this is a huge contrast to most of the patients that we're seeing with chronic disease, particularly a neuromuscular disease. So as we know these patients are generally living longer now that we have advances in medicine, we're seeing a lot of decline in independence during this time period, and we may be having increased technology needs or increased daily cares. So I think about this a lot in our neuromuscular clinic where otherwise patients of their age without a neuromuscular disease would not be relying on their parents to roll them at night, or to suction them, or to move their leg in the wheelchair, right? So there's a lot of things that they're having to rely on their parents for in a time when they really should be feeling like they're more independent as they're growing older. I think we talk about this a lot. There's a lot of publications, but really a lack of guidelines on how to do this in this population, and I think part of it is that there's so many different individualized plans in healthcare systems. So for example, I think about a center that has multidisciplinary pediatric neuromuscular clinic. You have cardiology coming, GI coming, neuro, palm, RT, PT, OT, seating, everyone's there, okay? And then if you're transitioning over, we may have our GI colleagues won't see anyone greater than age 18, and your neurologist might see them until age 21, and your pulmonologist might say, we'll see you forever, right? So they get admitted to the pulmonary service at your hospital, but none of the consultants will come see them, right? Or name the other service or the other center. I think it's a huge challenge that we have. I think it's a disservice that we have here, and we need to sort of figure out how as a group, how are we gonna make a plan so that our patients can really get appropriate care from all the providers that they need, because it's not just one group of providers who need to see them. I think this can be a major problem also just as far as the impact of insurance changes. So as these children are growing out of, say, the one insurance they've had, whether they're growing out of their parents' insurance, or they're changing from Medicaid, and then they're suddenly needing to have a different hospital system, or their specialists are out of network, sometimes even their DME companies are gonna change, and then so having to get coverage for something like, we heard about the non-invasive ventilation, the cough assist, all these really important tools that they're needing more and more of now, they're gonna have even more hurdles in getting these or keeping them after their insurance has changed. So there's tons of barriers here. There's a group in Philadelphia who talked about sort of how they've overcome some of these things from the CHOP system to Penn, there was an article about that, and sort of talking about just kind of preemptively seeing these things and writing, requesting prior authorization, so that their specific colleagues who are trained in this at their partner hospital can continue to see these patients and have that ongoing relationship. So it's things that I think we need to think about, and hopefully we can anticipate moving forward as we're transitioning our patients, and so that they can continue to have all the appropriate providers. This article was brought up earlier today, the Lancet in 2018, that has a lot of the guidelines for Duchenne's, and I think it's really important to look at this specific piece of this article, because when we think about a young adult, specifically with DMD here, but really any of our neuromuscular diseases, we'll see that there's so much more, you focus in on here, the healthcare setting, which I don't think really does justice by just sitting in this corner, because if you look at everything on this slide, it all pertains to their healthcare, right? So in just the one slide of transition from pediatric to adult care, talking about power of attorney and changes like that are great, but all of these boxes here, we have people in our clinics, our social workers, our psychologists, right? We have our palliative care docs in our clinic who really help to facilitate these, and I think if we can just continue thinking as our teenagers are coming to these multidisciplinary clinics, how and kind of who can address these things. So we recently had a quality improvement project pulling in our psychologist and a palliative care provider into the neuromuscular clinic, so when someone is there full-time now and can help from teenage on, meet these patients and sort of help fill in the gaps, where maybe some of the other providers might not be able or might not have the time to address all of these needs during the clinic. So I think it's a model, again, I think we just, there's a lot of room for growth moving forward. I don't have a specific answer. We have these steps that are laid out as recommendations, but I think it's just important that we really think about it and continue this conversation in settings like this where people can share anything that's working great at their centers, specific questions, I don't know if anyone up here also has anything, again, from personal experience in your centers that is really helpful, because it's so important in their care, and I think we need to just keep moving forward with it. So I thank everyone for coming and listening to this and partaking, because clearly it's a huge need. So I thank you all for your time. Thank you.

neuromuscular disease

pediatric patients

respiratory function

sleep disorders

non-invasive ventilation

tracheostomy care

early intervention

transitioning pediatric patients

continuity of care