Craig Zaidman, MD

 When I’m examining a patient and evaluating for signs of spinal muscular atrophy [SMA], or when re-examining a patient whom I have already assessed in person in clinic and are now transitioning to telehealth, I like to make sure that I have a wide enough field of view of the patient to be able to assess the right motor characteristics.

I typically start in the face, so if you could, I’d like you to move the camera a little closer to Hannah’s face to start with. That’s lovely, Miss Hannah. We’re going to start with checking some of the muscles in your face, and I’m going to mimic what I’d like for you to do so that you know exactly what I’m talking about. The first thing I’m going to ask you to do is to look into the camera and squeeze your eyes closed super tight. What I can see is that Hannah is able to squeeze her eyes closed with good strength, and she’s able to bury her eyelashes in the folds. This indicates good strength of the muscles around her eyes. Thank you, Hannah. You can open your eyes.

Next, I’d like for you to keep your chin very still and look all the way over toward Dad. Great. And now look all the way over toward Mom, and then all the way up toward the ceiling. Wonderful. You can look back at me. We have good extraocular movements. Your eyes move in all of the directions that they should. Some of my patients have limitations of their eye movements, so this allows me to take a look at that. The next thing I want to do is check the strength of the muscles around your lips, so I’m going to have you do what I call a cheek puffing maneuver. Can you do this for me? You’re very strong in those cheek muscles and lip muscles, because you’re able to seal all of that air inside of your cheeks without letting it escape. That’s wonderful.

Can you stick your tongue out? Excellent. Can you hold it out there for a moment for me? What I notice is that you’re able to stick your tongue out past your lower lip border. Can you raise it up a little for me? Great. I can see that you have good tongue muscle bulk. Nice job. There’s a little of what we call scalloping on the edges, so the sides of your tongue are a little thinner than the central area, which is very typical of patients of mine who have spinal muscular atrophy. If we look really close, we can see some little twitching movements that we call fasciculations of the tongue. You have very good projection of your tongue out of your mouth. Some of my patients with SMA can’t get their tongue as far out of their mouth as you can. You have very good strength there. I’m very pleased to see that.

Let’s check some of the sounds that the muscles in your mouth make. First, we’re going to check the muscles around the lips by saying a MAH-MAH-MAH sound.

 That’s checking the lingual sounds. Can you say GA-GA-GA?

 Perfect. That’s checking those very back muscles back here, and we call those guttural sounds. Those all sound like very good vocal production to me. Next, we’re going to have you pull the camera back so we can see that torso view again. Hannah, are you right-handed or left-handed?

 You’re right-handed. Can you show me how far up that right arm can go?

 My side support is going to get in the way.

 Perfect. Now we have a nice view. Excellent. Can you hold it there for a second? I know that’s hard. Nice work. You can rest it down. I’m going to have you do it again in just a moment, but what I’ll comment is that for our friends who have spinal muscular atrophy, it takes a little extra effort on the part of some of these shoulder muscles for you to get the arm into the air. You do a nice job of getting to about shoulder level on this side. That’s what I would put in my notes, and it’s what I’ve put in previous notes of yours, that Hannah can abduct her right arm to about shoulder level. Try that again for me. Awesome. And you can rest it down. Perfect. If I’m wondering whether somebody can touch their face or head, sometimes I’ll ask them to do that. Can you show me if you can touch the side of your head with that right arm? Excellent. And you can rest it down. Perfect.

Are you able to get that right hand into the field view of the camera like this? Nice job. Hannah, what I’m seeing is just a very faint tremor. You can rest your hand down now. Nice job. That tremor has a fancy name that we’ve talked about in clinic before. It’s called polyminimyoclonus, and it’s a characteristic of patients who have SMA. It is a normal thing to have if you have SMA. It’s not dangerous or bad, but it indicates that the nerves are sending different signals to the muscles, so it can be a clue to a doctor who’s looking to diagnose somebody with SMA.

Can you show me the left arm? How high up can we get that left arm? Wow, that’s fantastic. That’s stronger than I’ve seen you in the past. I’m noticing that you’re getting that left arm up. In my note, if I were documenting, I’d say that the left arm abducts not quite to shoulder level. You’re stronger on your right side, but you’re still very strong and antigravity in that left arm as well.

Miss Hannah, can you show me some toe wiggling? Can you wiggle your toes for me? Excellent. Can you lift your ankles up and down? Great. We’ve got some good toe wiggling, some ankle dorsiflexion, and some ankle plantarflexion. How much can you kick your legs out at the knees? There you go. Excellent job. And how about the other side? Nice work, Hannah. Fantastic. That’s great. We’ve got a bit of kicking out at the knees, a little ankle dorsiflexion and plantarflexion, and some toe wiggling intact. Nice job, Hannah.

In summary, if I were performing an assessment and describing what I was seeing in your physical exam that I was observing over the computer, I’d say that I see what’s called proximal greater than distal muscular weakness. Then I’d provide some of the details that we just talked about so that I could create a reference for myself and do some comparison in the future, especially in the context of us pursuing treatment, so that I can note whether I think that there are any changes.

The only other thing that I will sometimes do for patients when I’m pursuing telehealth assessments is sometimes we’ll have you do some functional skills for us. You have beautifully shown us how your arm is antigravity. For some of my friends who are perhaps a little weaker in their arms, if they can’t raise their arms up, I may focus on their hands and see if I can detect some small movements of their fingers, or if they can hold a pencil or a coin, or some other finer, smaller movements that might take a little more manipulation to be able to assess over the computer. Thank you, Miss Hannah, for showing us your exam details on telehealth.

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Crystal Proud, MD, demonstrates a typical neurological telehealth exam for pediatric SMA with one of her patients.

Telehealth Exam for SMA in Children and Adolescents

 Let’s go to Briggs and his parents. What advice would you have for a community neurologist in assessing kids who might show up in their office with symptoms similar to what Briggs was experiencing as you all were starting on this journey?

 There were a lot of big, scary words. When they said, “We’re going to test for SMA [spinal muscular atrophy], but don’t look it up,” guess what I did. I don’t know if I have any advice for the community neurologist. It was a scary space to be in until we found out, and it was about 25 days until we found out. Each family deals with things differently. It’s emotional. It’s physical. It’s survival mode.

 [I don’t know if I have any advice] other than getting educated and getting the word out. It’s obviously huge to find out sooner—the earlier, the better—so you can start getting treatment.

 And also maybe thinking outside the box, along with chiropractors and podiatrists. In our journey, it was never a medical problem. It was always flatfoot. For a physical therapist and a chiropractor to say, “Something isn’t right here,” they thought outside the box. It saved him. Who knows [where we’d be].

 What I’m hearing from you is that we need to provide more education to our community as well, because we need our podiatrists, chiropractors, physical therapists, occupational therapists, early intervention workers—anyone who plays any role in the care of patients—to be aware that there are conditions that involve muscles and nerves. [We need them to know] that there are specialists who take care of patients with muscle and nerve issues, and that there are therapies and treatments for some of these muscle and nerve conditions. If we don’t expand the awareness, then it may take somebody that longer journey before they get to diagnosis confirmation. There’s much more education that we need to do.

 I want to add something, Dr Proud. You have to trust your parental instincts. Both groups of parents here had to go back over and over again. In Hannah’s case, it wasn’t as many times as most of the families I’ve seen. Usually, the mom and dad know something is wrong before the doctor knows something is wrong. Lindsay, you’re right that it takes thinking outside the box, but what you did is you kept seeking medical care, and then when that wasn’t right, you sought more medical care. It takes a lot of confidence to keep bringing your kid back when the doctor says, ”I think there’s nothing wrong here.” You start to doubt yourself. You’ve got to trust your instincts as a parent and you have to speak up and put your foot down about expressing yourself so that the person who’s seeing you understands how concerned you are.

 That’s meaningful as a pediatrician when the mom and dad say, “There’s something that doesn’t sit right. There’s something that doesn’t feel right.” We should listen to that and investigate that. Charlene and Matthew, what advice would you have for the community neurologist? They might not be as familiar with SMA.

We didn’t have a horrible experience. My pediatrician listened to what I had to say, and after 2 or 3 visits, she said, “OK, I understand. Here’s what we’re going to do.” [The most important things are] knowledge, education, and for the doctors to listen.

 The biggest thing would be, the one thing they tell you is…

 Yes. The one thing they say is, “Don’t Google it.” Because when you Google it, it’s the scariest thing ever.

 It’s the very first thing we did. We got home and started Googling and I thought it was the end of our world. But instead of having Google, if they were able to give out the Cure SMA page or the MDA [Muscular Dystrophy Association] page or the resources where you can go and find actual…

 Good information instead of, “This is what’s going to happen.” Because if we had experienced that, then we wouldn’t be in this conversation right now. The information that comes from the doctor about stuff like that would be the best information that we could get.

 You’re saying to us to make sure that we provide you with the right resources. We can’t just say, “Don’t Google.” We have to say, “Here’s where to go.”

 Yes. “Don’t Google it. Go look here. Use this information.”

 I like that term, Hannah. It’s so true. We should familiarize ourselves with those resources. Dr Zaidman and I are both very grateful that the information on those resources is evolving, because we’re in a state of change with this diagnosis. We have therapies, interventions, and clinical trials. We have an incredible amount of hope. I’m pleased that the information that we have to share with newly diagnosed families may eventually be a little or even a lot different than each of your experiences as time goes forward.

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Families with patients with SMA share advice for community neurologists on helping new patients through the diagnostic process.

Advice for Community Neurologists When Dealing with SMA in Children

 Briggs and Hannah, we talked a little about how you were diagnosed through DNA testing and it was able to confirm your diagnosis of spinal muscular atrophy [SMA]. Miss Hannah, I’d like to ask you to give us an update on how you’re doing, and then we can get a perspective from your parents as well. How are you doing now? How have you done over time?

 I’ve been doing good. Since I’ve been getting the Spinraza [nusinersen] treatment, I’ve been doing a lot better. I feel stronger with the Spinraza treatment.

 What do you notice that’s different about your muscles?

 I can open stuff that I couldn’t open before.

 You’ve been doing fantastic. I’m so pleased with how you’ve done over time. We’ve known each other for about 6 years, maybe a little longer, and it’s been fantastic to see you grow and strengthen. It’s been incredible. Mom and Dad, what are your thoughts? How has she been doing?

She’s been doing great. She’s been able to do so much more since she started getting Spinraza. It’s like night and day to me.

 Hannah, talk to me a little about how you get around. What do you use for mobility?

 What do you like to do in your power wheelchair? What’s your activity of choice?

 That’s what I was thinking of. You’re quite active in your power soccer team, which is exciting. Briggs, can you share with us what you like to do?

 I like playing games on my [Nintendo] Switch. I like playing soccer. I couldn’t play soccer like I used to at my school. I play basketball sometimes. We have big icebergs at our school and we climb on those. I can climb up those better. Today, I slipped and fell in a puddle.

 It sounds like you were having some fun. Mom and Dad, what are your perspectives on how Briggs has been doing since diagnosis?

 It’s night and day, like Charlene said.

 Exactly. Before this, he’d get home from school and be so tired. He’d want to be on the couch all the time. After this, he has so much energy. I love seeing that. He’s a kid again. He stays very active now.

 He was falling a lot before. His legs would give out probably 5 to 15 times a week, which is what prompted all of this a year ago. And now I can’t remember the last time he fell because of his SMA.

I know you did, you tripped on something.

 I slipped on my pillow. It’s a long story. I was just bringing my pillow downstairs and [suddenly slipped on it].

 It happens. Briggs, we should clarify. How old are you?

 Hannah, do you know how old you were when you were diagnosed?

 Dr Zaidman, if there are physicians and families who are looking to find more information about spinal muscular atrophy, what resources can they utilize?

 I refer everyone to the Cure SMA organization, which is a patient advocacy organization. The information there is excellent. The Muscular Dystrophy Association also has information about spinal muscular atrophy, but Cure SMA is isolated to SMA, whereas the Muscular Dystrophy Association covers a number of different things. Both of those organizations are highly reputable and their information is curated and reliable.

I discourage families from making medical care decisions based on social media. The perspectives that a family gets on social media can be irrelevant for their child. It may be highly relevant for the person who posted it, but it may be irrelevant for the child who we’re talking about, who I’m caring for. I don’t have any problem with looking at social media or using it. But you have to be careful about the perspective of 1 person vs another. Along with Cure SMA and the Muscular Dystrophy Association, the American Academy of Neurology has information on spinal muscular atrophy. Those would be the main ones that I look for.

 I agree. I point my patients in the same direction. Both of those organizations have been incredibly supportive and have also supported research efforts in evaluating interventions and therapeutics for our families impacted by the diagnosis of spinal muscular atrophy. Dr Zaidman, what advice do you have for community neurologists? Maybe they’re not nerve and muscle specialists, but they’re the first stop for many patients in their journey in figuring out the reason for their weakness. What recommendations would you have for them?

 A patient who has motor weakness who has normal cognitive development has to have a genetic test for spinal muscular atrophy. If they’re sending blood work, they should have the creatine kinase checked as well. But the genetic testing for spinal muscular atrophy is free. It can be ordered online. A kit can be requested and gets mailed to the family’s house. I have a very low threshold for sending it. I get a lot more negative SMA test results than positive, and that’s the way it should be. I send it like you do. If I think of it, I send it. That’s my advice. Characterize the pattern of disability. Is it weakness plus cognitive or is it weakness with normal thinking? If it’s weakness with normal thinking, then send the genetic testing for spinal muscular atrophy and call my office.

Patients describe how their lives have changed since their SMA diagnosis, and a neurologist provides advice for community physicians.

Living with SMA and Resources

 We have great options for testing. Maybe we can ask Briggs’ parents: Did you have a blood test, a cheek swab, a muscle biopsy, or something else to test your DNA?

 You got the cheek swab. That’s a newer technology, Briggs, which is pretty cool that we can test pieces of your DNA by taking a little Q-tip and rubbing it on the inside of your cheek. That has made it so much easier to pursue some of this testing. Hannah, do you remember how you were tested?

 Hannah had the blood test done. Some of our patients are much older than you both. Years ago, before we had easy access to DNA testing, they had to have their muscles looked at under a microscope by something called a muscle biopsy. I’m glad that isn’t the case for both of you and that we now have easier ways of testing. Dr Zaidman, maybe you can speak to some of the ways we pursue testing these days.

 The exam and the history, of course. I want to mention that when you have a child who’s losing skill, that’s an emergency too, whether it’s SMA or not. If you’re referring to somebody like us and you have a child who’s declining, that requires a phone call, in my opinion.

 We’ll get those patients in also right away. As far as other testing that’s commonly done, routine blood tests are commonly performed. It’s amazing how many people forget you can check a CK [creatine kinase] in a child. That’s an easy test that can be done prior to referral. We do what’s called an EMG [electromyography]—a nerve conduction study, which is an electrical test on the nerves and muscles. In my experience, this can be easily done in most children without any sedation. It occasionally needs light sedation. But that requires a specialist. That requires somebody who’s experienced with that test, particularly in children, which has its own nuances.

Genetic testing is increasingly available, and I’m using it all the time. There are a number genetic panel tests that are often free for the patient, including SMA testing, which can be ordered in a way that’s free for the patient. We’re doing that routinely. More rarely, we’ll take pictures of muscles either with an ultrasound or an MRI machine. As mentioned, you can perform a muscle biopsy or a nerve biopsy. That covers it.

Let me mention 1 other thing, Dr Proud. Because we’re talking about SMA in particular, when a child is diagnosed with SMA, either by newborn screen—the more common way—or out in the community in an older child, that’s just the beginning. Some of the therapies that we have require additional blood testing to see if you’re a candidate for it. Some of the therapies have a size or age limit before they can be used. We’re talking about children who are identified by newborn screening in particular. They will need additional blood testing as part of their initial evaluation to determine the right course of treatment for them.

 That’s a good reminder that the genetic testing we have is available at no cost. This used to be huge barrier for many of our patients and physicians trying to seek confirmatory testing for the patients they were evaluating. Like you, I send it quite frequently, because if I suspect it, I test for it. If it’s anywhere on the list of possibilities, I test for it. I’m very glad that comes at no cost to the family.

Crystal Proud, MD, and Craig Zaidman, MD, discuss the necessity and urgency of genetic testing for SMA in children and adolescents.

Genetic Testing for SMA in Children and Adolescents

 When the physician is observing signs and symptoms of weakness, what’s their next step? If they suspect that they have a patient with weakness, what do they do next?

 It’s a phone call. It’s hard to get in to see me in the clinic. It’s probably easier for you, Dr Proud, because you have more clinic spaces than I do. You see patients daily, and I see patients once a week. A phone call is important, because with a referral to somebody like us, we can help you initiate the free genetic testing to look for spinal muscular atrophy [SMA]. As long as the patient is being referred to me, I’m completely comfortable initiating both processes at once. A patient could have a genetic test ordered and sent to their home, and they can mail it back. The genetic testing can be pending while they’re waiting for their appointment to see me. If it’s positive, then we know exactly what to do, and that might even speed up the appointment. If it’s negative, then I still need to see them, but we go in a different direction with the diagnostic testing.

 We spoke earlier regarding the emergent nature of pursuing such a diagnostic test. Like your clinic, my clinic is a phone call. When there’s a suspicion of SMA, my nurse—especially my neuromuscular nurse coordinator, who’s usually receiving this information even if it goes through the front desk—is going to hear that trigger word, which is possible SMA. That’s going to expedite the process of getting that appointment in. Usually the answer is, “How fast can you get in a car and get here? I’ll see you then,” or, “I’ll see you tomorrow.” It’s usually 1 of those 2, pending travel logistics.

 I agree. Because we’re speaking with other physicians, the challenge is when you have a patient like Briggs and the referral comes in that says flat feet, which we’ve gotten plenty of referrals for. It’s important for a referring doctor to understand that with a referral diagnosis that says low tone, which is often how these come—especially now that we get a lot of referrals that require you to select a click button to even make the referral—doctors like you and me need a couple of sentences about what’s going on; 

 doesn’t help us. It doesn’t help us prioritize a potential emergency referral from all the other referrals we get.

 That’s a great point about navigating through that chief complaint that comes through the fax machine or is scribbled down from a phone call at the front desk. Because the referring physician may know that there’s weakness or may see that there’s an unsteady gait, these are the terms that may come to mind. They may not even know that SMA is on the differential. If we see SMA, that’s easier to expedite. But weakness makes up a large proportion of what we see in our clinic every day. The capacity to expedite that may be impacted without more information. I completely agree that a couple of sentences summarizing the concerns are going to help folks categorize how urgent this appointment is.

 As Hannah and Briggs have demonstrated, the key is that it’s a child who’s weak but otherwise perfectly delightful. When Dr Proud and I see that wonderful, social, bright child who can’t sit up or is falling while walking, we know that’s the emergency situation. We know that’s a kid who might have spinal muscular atrophy. That’s the information we need from the referring doctor, not developmental delay without any other modifiers on it. That makes it hard for us to triage these referrals.

 When we see that characterization that you nicely described where we have an engaging social individual who’s either failing to meet motor milestones or losing motor milestones or distinct from their peers in how they accomplished motor milestones, those are all red flags. Because we now have treatment interventions and options for therapies for spinal muscular atrophy, my colleagues joke that, in my clinic, if you present with weakness, you have SMA until proven otherwise. I know I can do something if I diagnose you with spinal muscular atrophy. It’s important that I investigate for that so I don’t miss an opportunity to pursue treatment for you.

Experts explain the next steps for families and physicians after SMA is suspected in a child.

Next Steps for Suspected SMA in Children and Adolescents

 Dr Zaidman, you mentioned some important components of things you look for and what camera view is most helpful. I echo your thoughts on that. Having a broader view of the person we’re examining is going to be helpful, especially if we’re looking at a relatively new patient. Even if it’s a baby, having a broad view of an individual on telehealth is going to help you more than a view of the torso and head. If you’re looking for signs and symptoms of spinal muscular atrophy [SMA] in particular, what things might you attend to when you’re doing that telehealth exam?

 To start, I like to make good eye contact. I want to see the patient up close, so I can get to know them a little and make a connection. I’m also always looking at how somebody’s face moves. I want to hear their speech very clearly. I want to see how they’re able to swallow their saliva, how their tongue works, and how their eyes move. That’s the easiest part in a way, but you have to be close enough to the camera to see those things.

From then, I like to see the whole body if I can, as you mentioned. If I have to see a patient in a seated position, I want them to hold their hands out so I can see their hands. I prefer them to have a short-sleeve shirt on. I can usually tell if a muscle is atrophic or thin from looking at the hands pretty easily, so I’ll have patients hold their hands out for me so I can see them. I like to see their legs for the same reason. In spinal muscular atrophy, sometimes you can see that the arms or legs are too skinny. You often notice that in the legs. Seeing the thighs can be very helpful. Thighs are often thin and skinny. Sometimes I’ll ask the parents to squeeze the thighs and see if it feels the same in the patient as it does in them. That would usually be a diagnostic maneuver. As we already mentioned, these are usually follow-up appointments of an established diagnosis, so that’s not as critical.

For my patients who are seated, I like them to raise their arms over their head if they’re able to. I like to see exactly how they do that. There’s a difference between going straight up over your head [and putting them out in front of your head]. Those aren’t the same things. You want to be out and straight up if you’re able to do that. It’s the same with touching your nose. If you can do it this way, that’s different from only doing it this way. The first examples of each of those require more strength, as you know, Dr Proud. That’s how I get through it.

The most helpful thing for me is to see the patient’s full body sitting on the ground or in a chair. I like to see them stand up from a chair or sit up from lying down. That’s very helpful to see how a patient attempts to go from lying to sitting or sitting to standing. If a patient is able to walk, I always have them walk. I have them stand on 1 foot, stand on their toes, stand on their heels, and jump. With some of my patients who are able to jump, I have them measure how far they can jump by doing what we call a standing broad jump. Families can monitor that at home. If I can, I like to see them run and go up the stairs, as you said.

In patients with SMA or weakness of any kind, it would be difficult to sit up or stand up. It would be difficult to stand up out of a chair. Patients will have to push off their knees in order to get up or push off a desk in order to stand up. When you see a patient go up and down the stairs or you see a patient try to run, they will often be what we call upright. Their chest, belly, and head all stay perfectly upright even though they’re running, whereas a patient with full strength will typically lean forward and run while leaning slightly forward. That upright run is a telltale sign that a patient is weak.

I hope that covers it, Dr Proud. The take-home point for the physicians who are watching this is that you can diagnose weakness on telehealth and you can characterize whether weakness is in the shoulder and hip girdle or in the hands and feet, but you can’t make a diagnosis of SMA. You can only say the patient is weak in this pattern. But without checking the reflexes, it’s hard to differentiate between SMA and other more common things, like myopathies and other neuropathies that are even more common, like Charcot-Marie-Tooth disorder. Ultimately, if you’re in the diagnostic phase, you have to see somebody in person.

An overview of the signs and symptoms that physicians look for in telehealth exams when SMA is suspected.

Evaluating SMA in Children and Adolescents Through Telehealth Exams

 Sometimes I help families choose telehealth because I know I don’t need to examine them to address their issues. When I get contacted by families with particular concerns, sometimes they want to come in to see me, but I know that I can handle it over telehealth and it’s more efficient for them, so I usually encourage that. Issues with wheelchairs or orthotics are examples where I can discuss with them what they need and then triage it to the correct route. We handle some of that stuff in the clinic in person, and that’s convenient but only if you can get there. If we’re expecting snow, I convert a lot of my appointments to telehealth. That’s going to be very convenient for people, rather than having them wait to get rescheduled with me.

It’s helpful with a lot of issues, including changes in how somebody walks, which is a common concern among patients with SMA [spinal muscular atrophy]. “I feel like my son’s walking has changed.” I can watch someone on telehealth walk down the hall and have the parents demonstrate range of motion at an ankle or knee, and I can determine whether someone needs to be referred to physical therapy [PT] for stretching or potentially to a surgeon for a conversation about surgical release. Those things have surprised me. I feel like I can do a reasonable job with that decision-making over telehealth, but I would have previously guessed that I had to see that patient in person.

 We’re reminded over telehealth, especially as pediatric specialists, that so much of what we do is observational. Some things truly require laying the hands, like reflexes. But a lot of what we do is observe—observe movement, even observe someone playing. I found it interesting that for some of our younger kids—maybe not Hannah’s and Briggs’ ages—being in their own environment at home with toys and things around them gives me a nice perspective of their manipulation of toys and their maneuvering around a room or the way they’re seated. Sometimes in that home environment, I get a better observation of their abilities than if they’re exhausted from my very long visits, as Hannah knows. Maybe they’re not in a good mood or hungry or not excited about participating in PT assessments for the day. Sometimes telehealth can give us a fresh perspective.

 My favorite thing about telehealth, or what makes it easiest for me, is when the family has the opportunity to flip the camera. When I’m on somebody’s desktop, I get a very specific view, usually of their chest and above. That’s hard. But if somebody is on a laptop or a phone and they can flip the camera, then I can have them hold the camera up so I can see the whole child. The parent can move the camera backward, and I can see the whole child lying on the ground or sitting or standing. I can watch them walk down the hall or even go up and down the stairs. They can move around their house. That’s a much better interface for me than when a person is on their desktop, and there’s a single view they can achieve with the camera. Maybe they can swivel it side to side, but that’s it. That makes it hard.

 That’s a good point. Hannah, maybe your mom and dad can talk about their experience with telehealth. I’d love to hear your thoughts on what you like and don’t like about it.

 I’ll talk about it because I’m the one who always does it. It’s been convenient. I did 1 visit where I was at work and Hannah was at home doing virtual school, and all 3 of us were at the same telehealth visit. That was a conversation about medicine. It was great because I didn’t have to leave work, and she was able to pause school for a few minutes and do all at the same time. That worked out very well. I like it. On certain things, I still like coming to see you as well.

 I’m glad, because telehealth isn’t going to replace everything, which is good.

 On those little quick chats, it works very well. It takes me longer to drive there than it does to see you for that little visit.

A discussion of the benefits of using telehealth for SMA management for clinicians and families.

The Benefits of Telehealth Appointments for Pediatric Patients with SMA

 I’d like to shift gears a little and talk about our experiences with telehealth. In this era of COVID-19, telehealth is frequently utilized to deliver care. I have spent a lot of time on Zoom in particular doing telehealth visits. Dr Zaidman, what has your experience been with utilizing a telehealth platform with regard to patients with SMA [spinal muscular atrophy] the past couple of years?

 It’s hard to give hugs. That’s a big bummer about it. I like to give hugs. Briggs, you might not know that about me yet, but it’s coming, buddy. That part is hard. Dr Proud, I want you to talk about the logistics of this. My personal practice and your practice are different. We see different patients, so I’ll let you take some of the details of how to do it. But my rule is that, if possible, I like to have an initial office visit in person. I can explain why. Briggs, or mom and dad, do you remember anyone ever checking Briggs’ reflexes and commenting that they couldn’t elicit any reflexes?

 Yes. The physical therapist did. That was the first time anyone had ever checked, besides his normal maintenance well visits. I don’t know if it was missed, but our doctor did check them. I don’t know if he still had them. That’s a question. If you’re born with SMA, do you ever have any reflexes?

 It’s very unlikely. I have some patients who do have reflexes, so it’s possible that Briggs had them and lost them. But especially for Briggs, his story is a little harder to pin down in terms of when you noticed it and it taking so long to get the diagnosis. To diagnose Briggs would’ve required checking his reflexes. In fact, that’s how we made the diagnosis and why I suspected it when I met him. The way in which Briggs walks doesn’t say, “This is spinal muscular atrophy.” The way in which he walks says that he’s weak, but it doesn’t tell me more than that.

I like to see my first patients, my initial office visit, in person because it allows me to come up with the best diagnostic plan, and that ultimately saves time. If you have a patient who you’re suspecting has SMA—I’m sure we’ll talk about this, Dr Proud—you can do 2 things at once. You can get on the list for an office visit with a doctor like me, and you can send a genetic test while that’s pending. When I have a newborn baby identified with SMA, I like to see them in person, too. Although, it’s such an emergency that I’d be willing to do it over telehealth if there was no other option. Dr Proud, how do you do your telehealth appointment? How do you set them up for that?

 Like you, I balance a combination of telehealth and in-person visits. When it’s a new patient and we’re considering any nerve and muscle diagnosis—for example, if the patient is calling to schedule a visit and the reported issue is weakness, difficulty walking, tripping, and falling—I’d prefer to see that patient in person, just like you. Because, as a neuromuscular specialist, we’re trained in how to assess muscle strength, look at reflexes, watch you walk down the hall, and watch you perform some tasks. We can do some of those over video, but with some of them we can’t, like checking reflexes. If we can pursue that initial visit in person, it’s also my preference.

Once we have an established relationship, we have the option of pursuing follow-up visits with telehealth. That also depends on what’s needed. For example, Hannah is on a medication that requires that I send updated assessments to her insurance to justify authorization for her to continue on that treatment. And while my physical therapist and occupational therapist could certainly pursue a portion of those assessments over telehealth, they’re best done in person in our specially designed assessment room that we have in clinic with the tools that they utilize. That allows us to have a very accurate assessment of Hannah’s motor function that I can use to validate why I’m continuing her on the treatment that I know works so well for her.

We can do some visits back and forth where maybe some are in person and some are telehealth, depending on what’s needed. If it’s time for reauthorization of medicine and it’s been the duration of time that the insurance demands, we’re probably having an in-person visit. If the percentage positivity of COVID-19 patients is incredibly high and we aren’t due for a reauthorization and we have other things that we can discuss over telehealth, [such as] migraines, attention, school, mood, or diet, then telehealth works quite well for that as well. Hannah, what are your thoughts on your experience with telehealth? We’ve had a few visits where we’ve done it over the computer like this.

 It’s been helpful where I don’t have to miss a ton of school, but I also like to see you in person.

 I like to see you in person, too. But you’re right. We’ve had a more urgent visit on telehealth, too. It was the quickest way to be able to chat. Sometimes it can be very convenient as well at getting access to each other more quickly.

Two pediatric neurologists describe their experiences with telehealth appointments for SMA during the COVID-19 pandemic.

Experiences with Telehealth for Pediatric Patients with SMA

 I’d like to shift gears a little and talk about screening and diagnosis of SMA [spinal muscular atrophy] and loop in what we’ve all become familiar with recently: telehealth. Newborn screening has recently been implemented in many states. It’s absolutely critical for identifying patients with SMA as early as possible. This means performing tests, a blood test in particular, on every baby born in a particular state. That test is sent to a centralized laboratory that can then screen for spinal muscular atrophy. Dr Zaidman, what’s the importance of early recognition and referral to a specialist when it comes to SMA?

 It’s critical because hopefully the journey that Briggs and Hannah went through is going to become a relic of the old way of doing things. Now, in 42 states in the United States, when a child is born, they have a little spot of blood sent to a newborn screening laboratory. Amazingly, the newborn screening laboratory is able to evaluate patients for spinal muscular atrophy from that little spot of blood. This should detect around 96% or 97%—maybe even more—of the children with spinal muscular atrophy. It’s not 100%, but it’s close.

Instead of patients in second grade getting diagnosed with spinal muscular atrophy, Dr Proud and I are meeting patients when they’re 7 days old. We’re getting the opportunity to intervene and treat those children in a way that has a major impact on their development. It’s a life-saving therapy for children who have the most severe form of spinal muscular atrophy, and it’s a life-modifying therapy for children who have less severe forms of spinal muscular atrophy. It has revolutionized the way in which we approach this diagnosis. It’s a big deal. It’s an emergency for children.

Newborn babies diagnosed with spinal muscular atrophy by their newborn screen will look normal, behave normally, and are home in their parents’ arms acting like normal newborn babies. This is an emergency, and these children need to be evaluated. We try to do it within 48 hours at our institution. It’s a different kind of emergency for children like Hannah and Briggs. We don’t want there to be a delay, but the time course isn’t as critical for children like them. But for newborn screen–identified children, it’s a true emergency.

 I like that you’re using the word emergency because that’s exactly how I describe it to the pediatricians in our region and my colleagues, because it speaks to the emergent need for evaluation and progressing quickly to intervention. This is critical based on the clinical research trials that have been done that confirmed that the sooner we initiate treatment, the better the long-term outcome. I’m pleased to see that this is continuing to evolve and move forward and that more states are coming on board.

 Yes. Dr Proud, as you know, this is a disease in which the nerves that go to the muscles—the motor neurons—die. Once a motor neuron dies, it’s hard to grow a new one. As soon as we can get these life-saving medicines on board, we can save motor neurons. When you save motor neurons, you save the child and preserve their strength. Once those motor neurons have died, it’s very hard to get them back again. It’s a true emergency.

 Dr Zaidman, can you shed light on this? I had a family ask me yesterday whether it’s OK to wait to consider treatment until you see weakness. If you know that the genetic test has identified that a baby has SMA, is it OK to wait until they show weakness?

 No. Not in my opinion. Once a muscle is weak, it has already lost a considerable amount of nerve that goes to the muscle. A muscle can maintain normal strength for a while as the motor neurons are dying, but by the time a muscle is weak and the child is showing symptoms, the cat’s out of the bag. You can keep them there and they can get a little stronger, but you’ll never get them back to where they were before they had symptoms. The goal of treatment is to prevent symptoms if possible. It’s too late [to wait until they show weakness]. Dr Proud, the joyful struggle that we have is that when we meet a new parent of a well-appearing child, we have to convince them of the importance of starting on this lifelong journey of treatment in order to keep them that way.

 Absolutely. Your answer is exactly what I said to this family that inquired yesterday. I agree wholeheartedly that we can’t wait until we see symptoms because then we’ve already lost those motor neurons that may not be able to be regained.

Craig Zaidman, MD, discusses how critically important newborn SMA screening is and early diagnosis and treatment of SMA.

Screening Newborns for SMA

 We’ve talked a little about this diagnostic journey that can delay diagnosis. Hannah, did you see other doctors before you found yourself in our neurology clinic? Or did your pediatrician send you straight to see us?

 We had been to a ton of doctors before we met you.

 Before you had the diagnosis, what specialists did you see?

 When her pediatrician saw her that day, she stepped out of the room and called a neurologist. When she came back, she said she was going to send us over because she knew in her heart that that’s what it was. She’s the only person we saw.

 You have a very astute pediatrician and a great connection, at least in this community, between the pediatricians and the neurology team that was founded many years before I got here. That strong connection fostered that very quick referral pattern, which isn’t typical of our diagnoses of SMA [spinal muscular atrophy]. Do you agree, Dr Zaidman?

 Absolutely. There’s a reason it’s so difficult for a primary care doctor to recognize spinal muscular atrophy: it’s rare, and developmental delay is common. Developmental delay usually isn’t spinal muscular atrophy. It’s usually something else.

The other reason it’s difficult is that spinal muscular atrophy isn’t just 1 disorder. It looks different in different people. Some children with the most severe form present in the first months of life and are very weak. They have trouble with breathing and feeding, and they can’t lift their arms or legs off the bed. Other children, like Hannah, present sometime around the age where people are expected to walk. Other children, like Briggs, can present in school-age years or even teenage years because they are slow running. That diversity of presentation makes it very challenging for a general practitioner to think of it and pick it up as early as they did with you, Hannah. It’s much more common to try a few things first before they end up in the hands of Dr Proud or myself.

 Briggs, do you know if you saw any other specialists before you were diagnosed?

 We did. We had been with our pediatrician, our primary [care provider], a foot doctor, several chiropractors, Columbia, and Shriners [Children’s St. Louis]. The day he fell at school is when we saw the chiropractor who changed our lives. He knew something wasn’t right, but he didn’t know what was wrong. He had no problem saying, “I can’t fix this. I can’t tell you what’s wrong, but let me send you to a physical therapist in our hometown who I think can help.” I was leery at first, because we had been through so many of these situations where we’re told, “Let me send you here. Let me send you there.” The next day, she squeezed us in. Within the first 3 minutes, we went from flatfoot to the look on her face that I’ll never forget. You could tell. She asked, “Who’s your doctor?” I told her, and she said, “I’m going to call him quickly. I’m going to step out and give him a call. I think you probably need to see a neurologist.”

To go from flatfoot to neurologist, I had a hard time making [sense of it]. Where do we meet in the middle? What’s she talking about? The next day, they had scheduled him for an MRI. We weren’t home yet—it had been less than 15 minutes—and they said, “Your MRI looked great.” We were always being told, “It’s fine. This looks good.” The MRI came back, and they said, “We’re going to expedite you guys down to St. Louis to Dr Zaidman.”

 Some of those other tests that you’ve gone through that you’re describing are quite common when we’re evaluating patients in general neurology. Even in nerve and muscle specialty clinic, there can be tests that we ask you to go through before we confirm a diagnosis. Some can be longer tests, like MRIs, to make sure the structure of the brain and spinal cord are healthy—we want to make sure there isn’t a problem structurally with the signal getting from the brain down to the muscles. We may do some nerve and muscle testing with things like EMG [electromyography] or nerve conduction studies. But the ultimate test that we utilize to confirm a patient’s diagnosis of spinal muscular atrophy is what we call a molecular test, which is looking at your genetics, your DNA. There has been a lot of discussion about how we can make this journey shorter for families.

Families describe their diagnostic journeys with SMA and when they were referred to SMA specialists.