Activity Transcript

Bakri H. Elsheikh, MBBS : Hello, I'm Dr Bakri Alsheikh, Professor of Neurology and Director of the Neuro Muscular Division at The Ohio State University Wexner Medical Center in Columbus, Ohio. Welcome to this program titled, Best Practices in Spinal Muscular Atrophy (SMA): How to Handle the Transition from Pediatric to Adult Care.

Joining me today is Shelley Coskrey, who is a Pulmonary Nurse Practitioner and MDA (Muscular Dystrophy Association) Care Center Coordinator in the Department of Pulmonary and Sleep Medicine from the Children's Hospital of Alabama, University of Alabama, Birmingham. Welcome, Shelley.

Also joining me today is, John Brandsema, Child Neurologist and Neuromuscular Section Head at Children's Hospital of Philadelphia in Pennsylvania.

Welcome, John.

Today we are going to be discussing how to develop a comprehensive care plan for patients with SMA who are transitioning from pediatric to adult care. Let's begin with an introduction by John.

John F. Brandsema, MD: Well, we're hoping that most listening are well familiar with SMA as a disease. Um, this is a homozygous genetic condition that's caused by mutation in the SMN1 gene in the most common form of SMA. The phenotype is mostly determined by the SMN2 copy number of the patient, although there are rare exceptions to that.

When we think about this motor neuron disorder, we tend to divide the natural history into subtypes where the most severe is unfortunately the most common. That's about two thirds. And they'll have onset of their symptoms before six months of age and without any extra support will tend to pass within the first two years of their life.

Type 2 is about 20 percent of the patients, that is onset between six months and 18 months of age. They're able to achieve sitting, but never walk independently. And survival is usually into adulthood, but life is limited in those patients, frequently due to particularly respiratory complications.

And then in type 3, which is about 10 percent of the patients, we have onset after 18 months of age with ambulation at some point in their life, even into adulthood in some patients, but some may lose it in childhood. And usually lifespan is normal in those patients. There's also a much rarer form, only about 2 percent of patients that has onset in adults.

The point that we're trying to get across for transition, though, is that no matter what type of SMA somebody has in their natural history, there's a point at which the disease progression curve has largely flattened by the time we're thinking about transition. If it's in the more severe cases, they lose a lot of function very early and are in a relative plateau of function as they get older into teenage years, whereas if it's a milder form, that pace of decline is very gradual throughout the course of their disorder.

Now we have multiple targeted genetic therapies in this disease, which are totally changing this conversation. So we can't refer to type any longer. What we're doing now is talking more about a functional status of a person. Are they a nonsitter, a sitter, or a walker with SMA? And when you put that together with when you first met them with symptoms and how long it's been since they've been on treatment, you can start to get a picture of what that person's specific experience of SMA is like.

That's still relatively variable, but we have concepts that we can start to apply to, for example, a 9-year-old sitter that started off with symptoms at six months of age. The concept here is that with these disease modifying agents, we're seeing a functional stabilization of the motor neurons where they're no longer lost, and therefore, development is able to superimpose on that if somebody's young enough to benefit from that when they start treatment. If they're already pretty severely affected by their disease by the time they start one of these stabilizing treatments, we can't make more motor neurons, but the ones that are there can re-innovate to an extent, and we see a stabilization over time, as opposed to the relentless loss that was part of the natural history for every person.

So this allows for the potential of somebody diagnosed, for example, by newborn screening, to be... without symptoms when we first start them on treatment and potentially have almost a normal developmental trajectory at first. It's important to remember that those patients are not cured of SMA and still need lifelong therapy, even if they start treatment very early.

So as we do our interdisciplinary management of these patients in the clinic, what we're hoping to do is, give them optimal standard of care, but that's going to depend on what they've been treated with at what point and how far the disease progressed before they were able to get on treatment. We have three available genetic modifying therapies currently.

That's onasemnogene abeparvovec, nusinersen, or risdiplam, all of which will increase the amount of SMN protein in the person and stabilize the motor neuron aspect of this disorder. And because we have these early treatments, more patients with SMA are living longer and more functionally, which means that more are transitioning from a pediatric to adult care model.

I mentioned that in the natural history, two thirds of the patients had a very severe disease, where many of those patients were lost. Um, but presenting the symptoms before six months of age is no longer, um, something that leads to palliation for many patients. They end up on treatment and becoming more functional and having a life with SMA that needs lifelong attention and, care optimization.

To do this effectively, we need to have a multidisciplinary care team in place, where we look at all the aspects of this disorder, not just the limb weakness, but also the bulbar weakness in the more severe forms where we have, help from our speech therapy colleagues in terms of speaking and communicating, and also, our pulmonary colleagues in terms of the respiratory manifestations of the disorder.

Orthopedic issues in this disease are now different in people who are achieving functional statuses that previously would not have been achieved with their level of disease involvement. We need to think about spine and hip management, contracture management entirely differently. We have to think about the nutrition status of the patient, and think about also the, social and mental health aspects of living with a chronic disorder and some of the life transitions that happen in somebody who's having a different experience than what we were used to with our care teams in the natural history. So that was really a whirlwind tour, but that's what I was hoping to set as a stage before we start to discuss transition of care in this disorder specifically.

Dr Elsheikh: Thank you, John. I think that's what excellent points and so next let's discuss the challenges associated with transition to adult care and how the needs of patients with SMA change with age. Shall we?

​​Shelley Coskery, MSN, CRNP-AC: Thank you, Bakri, and thank you, John, for that overview. I feel like you made a great point that as our patients are getting these disease modifying therapies, they're living well into adulthood, and so we have to really start preparing for transition early. When thinking about transition with this patient population and with any complex population, there's immediate challenges that come to mind. And by no means during this discussion are we going to be able to solve all of those challenges, but I hope that we can offer some practical steps for you and your care team to consider transition and starting the process early.

Some of the challenges that come to mind with transition are inadequate planning and preparation, really attempting to transition patients without preparing them or their families well, or preparing the adult counterparts that are going to be receiving our patients.

There are some system challenges with just a lack of access to adult providers, both primary and subspecialty, that have particular knowledge surrounding these illnesses like. SMA that were historically a pediatric onset chronic disease and mostly managed in the pediatric population, but are now needing more adult specialized providers to take on their care.

Lack of communication, coordination, various protocols between pediatric and adult institutions is also a challenge.

And then access to medical records, pediatric and adult systems, having different medical record systems makes that communication and transition hard to consider.

Some other challenges that happen with age and patients growing up are changes in their health insurance, insurance restrictions that happen.

This varies state to state and insurance policy to insurance policy, but as our patients get older, their coverage and access does change, and that's something to consider.

Also, as they get older, there's different local resources that they might age out of or, on the other side, as adults, have more opportunity for different resources as they, grow into adulthood that we have to consider.

And then there is typically a loss of resources when patients move from the pediatric to adult systems. I can think mostly of in home care, nursing, durable medical equipment coverage, things like that.

Also, some challenges to consider are patients just not being equipped to, advocate for themselves, and it's hard to make these medical decisions on their own, and considering some of the self care that it takes to grow into adulthood, and as John mentioned, and the mental health is a big topic of conversation.

Transition often does coincide with other huge life changes. So graduation from high school, graduation from college, maybe stepping into marriage or, moving in with a partner, entering the workforce, all of these things happen around the same time that huge changes are happening with their medical care.

And the other thing I think that's very important to consider is patient and family hesitation with a new health care system. We often encounter just concern with where their new appointments are going to be. This simply can include where they're going to park at their new facility, how they're going to navigate around a new hospital system, how comfortable they feel with a new medical team, what are their expectations when they get to adult care.

And really just this fear of the unknown that they have.

So I think that it's part of our job on the pediatric side to really help set those expectations rightly. And a lot of that starts with starting the process of transition early. So before we get further into talking about transition, I want to make sure we clarify two terms that you're probably going to hear a lot.

Transition versus the idea of transfer of care. So transition should be a purposeful planned process where the movement of adolescent patients move into an adult oriented healthcare system. This is a long term process happening, hopefully, over the course of several years. Then there's actually a single event where the transfer of care happens.

So transition versus transfer of care are important topics to kind of keep in mind as we continue this discussion.

So when is it time to begin transition? Some of this can be very context specific. Different institutions already have policies in place to where they have a cap on how long they would allow you to follow a patient to a certain age, whether that's 18 or 21.

So some of that's really going to depend on your institution. And some of these adjustments need to be made for different diagnoses as John and Bakri have said too, transition can be an individual plan for each patient. And so you have to kind of keep that individual, idea in mind as you're considering transition for your patients.

 Access to medications, clinical trial participation might influence your transition timeline. They're certain questions or concerns that might actually be handled better on the adult side and might, encourage you to transition your patients sooner if they need to be managed by an adult care practitioner.

How will expected changes in treatment or disease course change your transition? Considering a specific patient's trajectory, whether they're in a period of stabilization or if they're having a rapid decline, these are things to consider. It's very important to make sure that you start preparing for transition, even if a clear endpoint for the transfer of care is not established, you can start having these conversations with your patients early and start preparing them for the idea of transition while you and your team are working out the clear endpoint for where they are going to transition.

There are six core elements of transition that is going to help use the framework for our discussion today. And we'll break these down one by one.

So, the first is really a policy and guide. It's important for your care center to develop a transition policy or statement. It's always helpful to include patients and their families at your center when you're defining what this transition policy might look like.

It's important to educate all your staff about the transition, what their distinct roles might be in the process, and when this policy is developed. Make sure that you're displaying it in an area of your practice that's accessible and that you can begin to start discussing this with patients as early as 12 years of age.

As you step into the transition process, it's important to regularly track and monitor how this is going. It's recommended to establish a registry for patients undergoing the transition process. Whether this is inside the medical record system or something that your clinic keeps in a spreadsheet it's just important to know where patients are in the process and how you can address their needs. It's also important to discuss regularly among your care team each particular patient and where they are in the process. For instance, our team has a monthly meeting that all of our multidisciplinary team attends. We discuss our patients that we're going to see for the next month, and if there are any through the transition process, we bring it up at that meeting.

We discuss if we need to do a readiness questionnaire with them, if there's a goal that we hoped they would attain by this next clinic visit. If it's their second to last visit or last visit, these are things that we discuss regularly as our multidisciplinary team, to make sure that we know where all patients are in the process.

And then transition readiness. It's important to conduct regular transition readiness assessments beginning at the age of 14. We typically try to offer these readiness assessments without a caregiver present to truly assess what the patient's readiness is. And then jointly together with our team, we develop goals with the patient and sometimes their parents, that are achievable goals that we can document regularly how they're doing and what concerns they might have or where we can hope to improve some of their independence prior to transition.

Offering education and resources as needed is always helpful. And then assigning homework to our patients in between clinic visits makes them a more active participant in their medical care. It's also important when considering transition readiness, with these disease modifying therapies on the rise and continuing to gain more momentum, making sure that where you are transitioning, is at a time that the patient is stable and in ongoing therapy, and if there's a future determined location to where they're going to receive this therapy, that that's set up as well. So part of the transition readiness, there's a couple of survey examples, and I'll let John talk through the one that they use.

Dr Brandsema: I really appreciate the opportunity to share CHOP's document. This is a shout out to the Team Care Approach because this was developed by our team social worker who works very closely with some of our nurse navigators and our, clinic coordinator also to make sure that this process happens smoothly.

I feel very spoiled to have so many expert people in my life to help support this process because it can be very complicated. But what we're looking to do is ensure that people at an age and developmentally appropriate stage are able to answer all of the questions on the screening questionnaire.

Can they talk about who they would call if a certain issue came up? What would happen if this happened? And also that it's clear, that the person has an understanding of their medical illness, but also all of the different things that are being done to optimize it. Um, so we can't do this all in one visit.

Obviously, this is a process that's iterative over many visits, hopefully where our team is checking in, to ensure that, we're making progress. And that concept of homework that, Shelley brought up is a great one that you can set a goal for the next time that you're going to tell me about all your medications and not your caregiver, for example, to, give people the empowerment to be able to do that confidently by the time they're in a system which really expects it of them.

Ms Coskery: Absolutely. And yes, this is a sample of what we use at Children's of Alabama. It's a very similar survey, but we typically have patients filling this out every six months as they come to [the] clinic. And we will normally pick just one, or two skills for them to work on prior to the next clinic visit. So like John mentioned, if they, don't know exactly how to fill their prescription, if their prescription is getting low or how to keep up with their future appointments. We might set those goals of things that they can work to achieve prior to coming back to seeing us in the next visit.

And then when you actually get to the transition planning part of this, there are several, parts of the planning process that I think are very important.

It's good to prepare your patient for transition. Especially as they're getting older, discussing some of the legal changes and decision-making that happen as they turn 18 or in some states 19. This could involve an advanced directive or designating a legal proxy. It's important to, as you're having these conversations, to jointly plan an optimal timing for the transfer of care.

For instance, our center transfers anytime between age 18 and 21. And some of our patients have preferred to go at the age of 18 because that's when they're moving to college or having another big life stage. And some patients would prefer a longer off ramp and a little bit more time to work on those skills before they transition closer to 21. So it's good to plan that with each individual patient.

An important step is always obtaining consent from the youth and the caregiver to release medical information as you're nearing time to transfer records and all of the medical information to the adult providers. We just want to make sure you have that consent in place.

And identifying both primary and subspecialty adult providers and communicating with them regarding the transfer of care.

As you prepare your patient, I think it's important to make transition just a common topic of discussion, encourage questions from both the patients and the parents. And we always say, if we can't answer the question, we'll try to help them find the answer because we want them to feel as confident and secure as possible before making that transfer to adult care.

As we've mentioned, set ongoing goals for self care and identify any needs that they might have and continue to regularly check in. This isn't just a discussion that happens at the age of 14 and then it's not brought up again. This is a regular check-in that we have each clinic visit to see where our patients are.

And then just acknowledging their feelings towards transition and trying to help work through that. One of the other tools that we feel like has been helpful is called an Individual Transition Plan or an ITP.

It's something that we can fill out. We don't do this every clinic visit, but we do this as they're getting closer to the time of transition.

There are different goals that are set forth on this transition plan, whether it's referrals to future care providers, different, educational or guardianship needs. We have the track on there, the readiness questionnaire. We have self or parent goals, and then we have an emergency sick plan. This is just something that's worked well for our center.

We're able to write down an issue or concern, what sort of action is going to take place to try to resolve that issue, who is going to be responsible to help follow up with that action, whether it's going to be someone from the team, the patient themselves, a combination of both of us together.

And a target for us to when we can aim to have that resolved. The big thing that I think we've learned a lot from is making sure our patients have an emergency or sick plan as they're nearing transition. That's often a big concern for us in that interim between when they've last seen some of the providers at our pediatric institution before they get familiarized and really embedded in the adult institution. If they were to get sick or have an emergency, who would they call and where would they need to go for emergency care? And so I think that's very important to address in this kind of planning stage.

And also just preparing your adult providers for your patients.

We collaborate with the provider who specializes in the patient's diagnosis. It's good to provide thorough diagnostic information, genetic results, medical history, psychosocial background. Anything that you can provide helps paint the picture for the adult provider that's taking on your patients. And really asking the receiving physician, what would be helpful for them to know?

How would you like us to present this information to you in a clear and concise manner so that you can understand our patients? And then considering some of the complications for patients requiring multidisciplinary care at our adult institution, they do not have a multidisciplinary clinic, and so oftentimes our patients are going to a few separate visits in order to receive all of their disciplines of care.

And so setting that expectation, making sure that those are set up for them, but to make it there to that first appointment is very important. And then as we're considering our SMA patients, just the timing of their disease modifying therapy. If they're on nusinersen, we were making sure that we're getting their maintenance dose in and giving them the longest window possible in order to make sure everything is set up on the adult side to get their next maintenance dose on time.

And then some of the subspecialists that we work with, specifically in our SMA patients that are on the adult side, or of course, our neuromuscular neurologists, our pulmonologists. Our rehab medicine and physical therapy. We have our patients follow with palliative care on a regular basis, just for advanced directive and support, not just end-of-life care.

A nutritionist, psychosocial support. On the adult side, we make sure they get established with a social worker, as well as a referral to mental health counseling, if that's desired. For some of our female patients that have, gone into family planning, we make sure they have obstetrics and gynecology accessible.

And then we've had a few of our adult males that have wanted to seek fertility specialists. And so these are just some of the common disciplines that you might see on the adult side.

At the actual time of transfer of care, it's time. So, with that, you, typically, we would complete and send a transfer packet prior to their first appointment.

 When our transition clinic really started, just a few years ago, I actually went from the pediatric side to the adult side myself for those first few visits, just to make sure that loop was closed and that If there were any questions or concerns from our adult counterparts that someone from the pediatric team was there to answer those questions.

But we do have a transfer packet where their medical summary, emergency care plan, all of the legal documents are in one easy place. We make sure the patients are aware of when their first date of their appointment is. Assisting them through the new medical system, maps, parking, instructions, phone numbers of the team on the adult side of who they would need to contact.

These are all simple things, but they really go a long way to assure that our patients feel confident that they're ready for that transfer. And then I think it's important just to make sure that their condition is as stable as possible when they're transferring to the new team and to the new center.

This is just a sample of a transfer of care document. It's very concise and it allows you to just check the boxes and make sure that everything is in one place when you're ready to transfer your patients.

After transfer is complete, it's important to follow up with your patients as well, contacting them a few months after their last visit with you guys.

And, after their first visit with adult care, getting any feedback on how the process could have gone smoother or what was successful or where there might have been challenges, communicate with the adult practice, confirming the transfer, sometimes offering further insight or consultation as needed, and then it just continues to build that collaborative partnership with the adult side.

Because it really does take the entire team to make sure these patients are successful into adulthood.

And throughout the whole process, it's important to make sure that the patients are emotionally supported. As we've mentioned a few times, going into adulthood, there are a lot of stressful factors. And so, making sure you and your team identify some of the things that could be impacting this time for them is really important.

Acknowledging that the patients and the parents and their entire family might need emotional support during this.

I just wanted to close with a few tips for success, some things that we've learned in our time of transitioning, as John mentioned, making sure that there's really a champion for transition, whether that's a nurse coordinator or a social worker, just someone who is identified to help carry patients through this process.

So there's no one falling through the gaps or nothing getting missed. I would recommend not to try to do too much too quickly. This is a long term goal to transition our patients. We're not trying to rush anyone or rush the process as long as we're doing it effectively.

 it's important to develop a way to keep track of these patients, where they are in the process from beginning to end. Communicate that regularly to the patients and team. And as we've mentioned, just plan to start a process early. Age 12 to 14, is really the time to start talking about transition.

There's always those cases that require a more rapid exit, but if you can help starting with this process 4, 6, 8 years ahead of the game, it's going to be successful.

And to conclude our discussion today, we wanted to bring up a patient case.

This is a patient that we followed at Children's of Alabama. I wanted to just bring it before, Bakri and John and just discuss what went well and what we learned. this was a patient who at the time was a 24-year-old female.

This was at the beginning of our transition program, so she was a few years older than our typical patients are now at the time of transition, but, she was a three copy patient, but she was very functional, so I would say she was a type 3. She ambulated at this point very well in her 20s.

She was diagnosed back in 2012, and she started on nusinersen. The year after it was approved, she was on her maintenance dosing prior to transition, and I've got her Hammersmith functional motor scores there. Out of 66, she did very well. She's, after starting nusinersen, we actually saw some mild improvement as well.

And then, to expedite her transition process, she became pregnant and then she was due in May of 2021. And so, we had to expedite her transition process. So, her last visit with us on the pediatric side was a couple of months before her delivery.

And we aligned her first visit at the adult side the same month, just a couple of weeks after we saw her for the last time. During pregnancy, her nusinersen was held, but that was something we needed to consider for after delivery. So, as I said, this was the start of our transition program, and we were in a growing phase, but we did have to fast track her preparation, given her pregnancy.

Some of the adult counterparts that we reached out to very quickly were obviously our adult neurologist. To discuss the continuation of her nusinersen after delivery. Our adult center at the time had not had any experience dosing patients with nusinersen, and so that was going to be, um, a barrier for us, indefinitely.

Thankful that we had some time to work out that before she was going to be back on therapy. She was seeing,her local OB (obstetrician) at the time, but when we realized that she was pregnant and there could be complications given her SMA, we had her come to UAB to get more, formalized obstetrician care and, consultation with maternal fetal medicine. Just some things to consider from an adult standpoint are what's their familiarity in the OB department with SMA, with SMA patients being pregnant, some of the accommodations given her impact on ambulation as she was becoming more pregnant, her increased nutritional needs during pregnancy SMA. And then discussion around her delivery as well. During her time on the adult side, we wanted to make it sure that she was seeing a genetic counselor in maternal fetal medicine. And they did decide to conduct genetic screening in utero on her infant. We wanted to make sure she had adequate psychosocial support. And because with everything else going on, this was going to be a life transition for her from moving to pediatric to adult care.

She now had a pregnancy and was going to be a mother, so lots to consider, lots on her shoulders. Her insurance changes had already occurred when she turned 21, but considering what her coverage would be for her baby post-delivery was part of our discussion. I just wanted to note, she was still fairly functional at that time, but we wanted her to make sure she saw a pulmonologist, during and after pregnancy to screen for any sort of restrictive lung disease or concerns that she might have, and then she did have a high school degree, and prior to pregnancy, she was working and taking care of one of her elderly family members, but during her pregnancy, she did have to step away from work.

It was too physical for her, so after delivery, we wanted to make sure she got followed up with vocational rehab services so that she could fully Re-establish herself back into, work or whatever she decided to do after delivery.

So, several considerations with this patient, but would love to just open the discussion with John and Bakri if you all had any thoughts or questions about this case.

Dr Elsheikh: Thank you, Shelley, for taking us through the journey of transitioning, pediatrics to adults and, highlighting the differences in the, system where, as an adult provider, I can tell you, yes, the system, is different and no doubt it is more patient, centric with more responsibilities on the patient.

In addition, the resources are much, more, limited on the adult side. So, the case you ended with is really a good, example of where communication is really key in those situation where, a more of an urgent transition of care is needed. And again, I believe communication is key, as you did in this particular patient.

So the adult providers, are advocates for the patients in the adult world. They can help communicate with the, obstetric and gynecology.

Services as well as pulmonary services, and I'm lucky to be in a clinic where we do have a multidisciplinary, team for our, adults with, spinal muscular atrophy. John?

Dr Brandsema: I think another interesting aspect of this specific transition is pregnancy on disease modifying therapy. We're really trying as a community to understand what the impact of these genetically targeted therapies are on a fetus, whether or not that fetus is also affected by SMA, and we're still pending information about that, so that's something else to consider in these transitions.

Optimally, pregnancies would be planned in the context of these kind of uncertainties, but we know that's not always the case in the real world, and so we have to try to support the situation that comes up the best possible.

Dr Elsheikh: Excellent. So, Shelley, for the providers who don't have multidisciplinary clinic or they are working to build [a] new multidisciplinary clinic, are there any resources that they could use? That could help them, better understand the process.

Ms Coskery: Yeah, so I think there's some great resources out there, for centers in particular. There's some tools at Gottransition.org. There's also the ACP Transitions of Care Toolkit. And there's also a Roadmap to Independence on the Muscular Dystrophy Association website. A lot of these community support organizations, such as Cure SMA or the Muscular Dystrophy Association, also often have funding for centers that are trying to develop better sites of care.

And so that could be an opportunity for some centers that need funding in order to staff more of these multidisciplinary clinics. As far as resources for patients, I think one of the best resources to talk about transition is actually talking to young adults that have already gone through the transition process, either at your same center or another center that might be like-minded.

Also, support from medical social workers and nurses, as well as these same support organizations that I mentioned. They have a patient care arm where patients can get information about transition, as well as how to connect with other patients.

Dr Elsheikh: Great.

Thank you all for joining us in this educational session on transitioning SMA patients from pediatric to adult care. Before we conclude, let's recap today's key points. First, transitioning isn't just a care transfer. It's a process that begins four to six years prior to ensure patients are well prepared for the adult health care system.

Second, effective communication between pediatric and adult teams is crucial for a successful transition. Another key point is that there is no one size fits all approach, and each patient needs an individualized transition plan. Lastly, continuing multidisciplinary care on the adult side is really vital.

Shelly and John. Thank you for this great discussion.

Ms Coskery: Thank you for having me.

Dr Elsheikh: And thank you for participating in this activity. Please continue on to answer the questions that follow and complete the evaluation.

This transcript has not been copyedited.