Pediatric Neurological Exam to Identify SMA

Virtual Exam Findings in an Infant Affected by Spinal Muscular Atrophy 

Hello, and thank you for joining this NeurologyLive® Cure Connections® program titled “Cure SMA: Evaluation of SMA in the Era of Telehealth.”

Today we’re going to discuss the diagnosis of SMA [spinal muscular atrophy], including the virtual visit during COVID-19 [coronavirus disease 2019]. I’m Dr Garey Noritz, a pediatrician from Nationwide Children’s Hospital in Columbus, Ohio. Joining me today is Dr Diana Castro, a pediatric neurologist at Children’s Health of UT Southwestern in Dallas, Texas.

Thanks so much for joining us. Let’s begin. Dr Castro, can you tell us a little bit about your practice?

 Sure. Thank you so much for the invitation. We’re actually one of the largest neuromuscular practices. We have about 150 patients with spinal muscular atrophy, divided in terms of types 1, 2, and 3. Most of the patients are getting therapy. I only see neuromuscular patients, and I work very closely with a pulmonologist, gastroenterologist, and orthopedic surgeons. Those are the main people with other specialties who help me. I also have a nurse coordinator, PT [physical therapist], OT [occupational therapist], and nutritionist. I’m blessed with my practice. I cannot complain.

 It’s so great to have a team to help you with patients who have a disease that is this complicated, and I’m sure the families appreciate coming to one place and getting a lot of their problems addressed at the same time. But one of the problems is getting them to you in the first place, right? How do patients get the diagnosis of SMA, and how do they then make it to a neuromuscular center?

 Unfortunately, we don’t have newborn screening yet here in Texas. We’re hoping that we’ll get it in 2021. Right now we’re mainly relying on the clinical diagnosis and the referrals we get from pediatricians, family physicians, and sometimes physical therapists as well. I think it’s great because they’re also getting educated and informed about treatments that can be given. I try to be very open with my colleagues, pediatricians, and so on to try to have a direct line of communication. They will have my cell phone number, or they will send the referral and email, or call me to let me know that they’re worried about a patient with spinal muscular atrophy with low muscle tone. 

If that’s the case, those patients come to me or my colleague right away. We try to see the patient on the same day or the day after but never later than that. For us, it’s almost like an emergency. We bring the patients in really quickly. We have also been working with our schedulers to discuss or have key words in the referrals that they will see and then send the referral directly to us. If they see hypotonia, absent reflexes, CK [creatine kinase], or whatever is the case, they will come directly to us, and they will keep that long process of review.

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Referral of SMA to a Neurologist

 Dr Castro, you mentioned that in Texas you don’t yet have newborn screening. In states where there is newborn screening, how good is that test? If you suspect a child has SMA [spinal muscular atrophy] but their newborn screen was normal, can you be sure they don’t have SMA?

 That is a great question, and I think this is one of the key points for people to remember. The newborn screening will capture 95% of the patients. In 95% of the cases with spinal muscular atrophy, there is a homozygous deletion of the SMN1 gene. The screening is solely looking for deletions, but there is a small percentage of patients—about 5%ؙ—that may have a mutation that is only going to be seen in sequencing the gene. I have cases where the patient has the deletion in one allele and a mutation in the other allele, or they may have mutations in both alleles. Those patients are not going to be captured by the newborn screening. As neurologists, if you still have that concern, you can send the testing right away. The test will check for SMN1 deletion and sequencing, and it also will give you the SMN2 copy number. Something that has happened to me recently is that I have to specifically ask, “Are you sequencing the gene? Are you giving me the SMN2 copy number?” Make sure this is always included.

Something I don’t think I mentioned was the carrier testing. Right now, more OB-GYNs [obstetricians and gynecologists] are testing mothers before they get pregnant or during the early stage in pregnancy. If they come up positive, they will test the father as well. In those cases, amniocentesis can be performed, but many families decide not to do it because of the risk of losing the pregnancy. The testing can be done right away, the day the baby is born. What we do in those cases is prenatal counseling, and we give the test kit to the mother to take to the hospital when she will deliver the baby. The testing can be done the same day. We have so many opportunities to get this diagnosis that we have to be informed of what’s going on. Many neurologists don’t know how many options we have for treatment, and I think it’s important to stay up to date on all the knowledge.

Newborn Screening for SMA

 In a place that doesn’t have newborn screening yet, you’re really relying on the eyes, ears and hands of pediatricians, family doctors, physical therapists and families to recognize when there is something not right about the child. What are those things we should be looking for?

I have a certain way of thinking about a patient with spinal muscular atrophy [SMA], at least with type 1. There are different types, and the ones you and I will get exposed to as pediatricians will mainly be types 1, 2, and 3. Type 4 is usually adult patients who we’re not going to see. Let’s concentrate first on type 1. I always tell my residents and my fellows to think of a patient whose face does not go very well with the body. Why? Because you have a face that is completely normal. Usually these kids are beautiful. They are extremely alert. They look around. They seem to understand everything even better than other children do. When you start looking down at their body, it is a disconnect. It’s almost like their body is not connecting well with their face. With their body, you’re going to see low muscle tone. You’re going to see a patient who has really limited mobility. Sometimes they cannot pick up their legs. Most of the time, the legs are the first to be affected. Then we see start seeing other things, such as breathing abnormalities.

Those are the key points: a patient with very low tone and weakness with a face that does not seem to match. Fasciculations are also something I would look for. The problem is that sometimes fasciculations are hard to evaluate. Some of them may look like tremors in the tongue, but I prefer to get a referral to identify whether they’re tremors or fasciculations. If you’re looking for patients who fit type 2 and type 3, type 2s usually will only be able to sit. That will be the key point where the parents get concerned because the patient is not going to be able to stand up and walk. That’s usually the referral point.

Pediatricians, I’m sure it’s sometimes hard for you to get reflexes checked, but I think it’s key. If you have a type 2, you’re not going to find reflexes. You’re going to have a patient with very decreased or absent reflexes. In the setting of a kid who has low tone and cannot stand up, that’s a patient with SMA who should be referred to us. Type 3 patients usually take longer to get diagnosed, but it’s a kid who is able to stand up. It’s a kid who’s able to walk. Around 8 to 10 years of age, they will start having several falls, will start getting fatigued, and so on. I think that’s the most difficult to diagnose, and that’s usually the one who takes longer to get to the diagnosis, but it’s something to keep in mind. It’s something that we have to think about.

Signs and Symptoms of SMA

 In addition to this challenge of trying to find a very rare disease, we’re trying to do this in the midst of the COVID-19 [coronavirus disease 2019] pandemic, where we’re doing some care by video and some care in person. I think there are some families who are reticent to come to the hospital at all. If you’re doing neurology by video, how do you do that? How do you get ready for that? I remember in medical school, one of the things I really liked was going to watch neurologists do examinations. That’s what you do and that’s what you’re great at, and you learn so much by watching an expert do it. How do you do it when all you have is your eyes?

 I think that’s a great question. I have some colleagues who are seeing new patients through telehealth, and I respect that. My opinion is that if you have a new patient where you suspect a neuromuscular diagnosis, you should see that patient. It doesn’t matter if it’s a short visit. Obviously, it’s important that we make sure to control all the factors to try to avoid any kind of exposure. If you’re doing a first-time evaluation over video, there is not a good way to test, for example, reflexes. You’re not going to be able to test reflexes through video. You really have to feel that muscle and feel if it’s a hypotonic muscle or if it feels normal. Unfortunately, there are many things in neuromuscular exams that require you to be able to see that patient.

The follow-ups are different. Once you have the diagnosis or you’re suspecting your diagnosis, and SMA [spinal muscular atrophy] is definitely not one of them, it’s easier. It’s easier to do it through telehealth. I ask the parents to have their kid with them, and I try to observe as much as I can because a lot of what we do is observation. While I’m talking to the parents, I’m also looking at the kid. Many times, they are playing around or doing something, so I try to observe that. Then I ask the parents to do a couple of maneuvers that will help me follow up on the things that I’m looking for. For example: eye movements, facial expressions, raising their arms or legs, and other things like that.

A lot of what we do is visual, but there is this tactile part to it that I don’t think you can replace. You can have the families replicate some of it, but I think it’s hard to do it. Let’s say you do end up doing an evaluation by telehealth, and from what you see, you are worried about SMA. What would you do next?

The next step will be getting the patient tested right away because we can send genetic testing. If that’s my suspicion, I’ll bring in the patient. If I’m seeing a first-time patient by telehealth and that is my suspicion, I will very likely bring the patient in the next day, and I will do the genetic testing right away. In the past, we had to do many other things to try to get to the diagnosis, but fortunately the genetic testing is available. It’s usually sponsored, so the families will not have to take on the cost and we don’t have to deal with insurance or preauthorization.

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Evaluation of Suspected SMA via In-Person and Remote Exam

If you then diagnose SMA [spinal muscular atrophy], how do you handle that with the family? How do you disclose the diagnosis? How and where do you send them for help next?

Let me start saying this. If I see the patient through telehealth and become concerned that this is the diagnosis, I bring the patient in the next day to get the testing done. That same day, we’re also going to ask other team members to see the patient. We’re going to try to save time because if we’re thinking that it’s going to be SMA and we’re sending testing, we’re likely going to need functional testing because insurance is going to require this kind of motor function testing for us to be able to get therapies approved. I talk to the families the same day even without the final diagnosis, and I start preparing them with what I’m thinking and the possibility of their child having this diagnosis. I get these other people to help me see the child, along with nutritionists, physical therapists, occupational therapists, and so on. We’re trying to set up things ahead of time even before diagnosis.

If you’re seeing a patient who has a degree of hypotonia that has you concerned, even if it’s not SMA, it’s a patient who is likely going to have to be seen by pulmonology as well. We try to get them to see the pulmonologist and sometimes the gastroenterologist. There are many other things we can do while we get the diagnosis confirmed.

Then once we do have the diagnosis, where do you send the families next?

 Let’s say we see the patient, and we had a very clear conversation about what I’m thinking it is. I can schedule a telehealth visit to talk about the diagnosis because I think at that point, this is something that can be discussed if we already had a conversation before. What I will recommend to them is to make sure they get all the specialties. I will have already the functional testing done. I will explain the process about the therapies. We have to talk about the different options for therapy. Right now we have three options, and that’s one of the reasons that getting the diagnosis early is so important and an emergency. We have oral, intrathecal and intravenous medication that can be offered to the patient. I spend a lot of time talking about these options for treatment with the family. That’s one of the first and more important things we do. I also ask them to look at different online resources to try to get them involved in the community. I’m very fortunate with the families that I have here in Dallas. They are a very strong community. Once somebody gets diagnosed, they bring them into their Facebook page and they start getting them somewhat ready, along with providing help for these new families.

 It’s like dropping a bomb on a family who has a baby. They may suspect something is not right, and then you’ll confirm that something is not right. The families I’ve been down that road with have benefited from getting involved with organizations like Cure SMA to become part of that community. I once heard someone say something along the lines of, “Welcome to a club that nobody wants to join. But now that you’re here, we’re going to be with this together.”

Exactly. I have found that the families have been extremely helpful. Sometimes we cannot get equipment for any specific reason, sometimes insurance doesn’t cover it, or whatever is the case. The families will help each other a lot, so I think that’s an important place. Obviously, Cure SMA is extremely important for them, too.

Discussing the Diagnosis of SMA With the Family

I’m a general pediatrician, and I’m not super likely to come across a baby with SMA [spinal muscular atrophy] more than once or twice, if ever, in my career. Where can I go to find information to help me be on the lookout? I don’t want to miss it if a baby with SMA does come through my office.

Cure SMA to me is the best resource we have. It’s this resource that I give to the families but I also recommend to physicians. They have several areas where, as a health care provider, you can go and watch videos, for example. There is something that was recently started called SMArt Moves, which is composed of different tools to help you get into the diagnosis. It shows you videos of key findings and the things you should be looking for to try to get the patient diagnosed. That is one place.

Cure SMA also has the standard of care guidelines. The last ones were published in 2018, so I’m sure we’re going to need to write new ones. These standard guidelines were prepared by different experts in SMA, and they are available on the Cure SMA website as well. It’s a really good resource because even as pediatricians, we try to be the center of care, but we need you to be the center of care with us. We need to work together to make sure the patient is getting all the care they need. They need pulmonology, gastroenterology, orthopedics, and rehab. They need all of these specialties, and these guidelines talk about this, so it’s a really good resource to have.

SMA Resources for Physicians and Families

The other thing I’ve wondered about is the families. Not just families of kids with SMA [spinal muscular atrophy], but families in general who, just like us, were kind of thrust into this telehealth world. They said, “We’re shutting down the community, so we’re going to do this all by video. Hope you figure it out.” Do you know about any resources that families can look to for help with their telehealth problems or how to get the most out of telehealth?

Using my clinic as an example, the schedulers are the ones who will talk to the families about the program we use and how they have to connect. They have to give authorization to be able to use the platform, so they go and help them through the entire process to get them ready for the appointment. They send them several reminders and tell them to download the app, so they’re usually very ready to start.

Obviously, we encounter other issues through the visit. Sometimes it gets disconnected and things like that. We tell them to be at home for the televisit, not driving, and to also have the patient with them rather than being by themselves. I think the Child Neurology Foundation has a telehealth tip sheet that may also help some of the families navigate the system. But all of us, we’re learning. It’s not only families but all of us. We have to learn these different options for virtual care.

Yes. If there’s anything we’ve learned in 2020, it’s that you have to be flexible and ready to change on a moment’s notice.

Telehealth During COVID-19

To me, that’s almost the story of SMA [spinal muscular atrophy], too. The SMA that I learned when I was a resident is not the SMA we take care of today because of the advent of early diagnosis and these treatments.

Yes. It’s completely different. And just to make the point of how important it is to get diagnosis early: weeks count in spinal muscular atrophy. Days and weeks count. We cannot be waiting for months. Two weeks ago, I had the experience of meeting a patient in the hospital who was admitted with constipation: a little baby. The mother said, “I’m a carrier. I know I’m a carrier because I was tested.” The husband was also a carrier. They didn’t want to go through amniocentesis because they were afraid of losing the baby. When they took the baby to the pediatrician, the pediatrician said, “I think we can wait until the baby starts having symptoms.” And that’s a big “no.” That’s not an option. We cannot wait until they start having symptoms because all the studies we have done with different medications show that if you treat the patient in the presymptomatic time of the condition, that’s where their best results are going to happen. That’s going to be the best prognosis for a patient with spinal muscular atrophy type 1.

 Yes. The treatments are really amazing. They’re not a cure, but they make such a big difference. It’s a wonderful time to be taking care of kids with SMA.

Yes, and you said something key: it’s not a cure. We have to remind the families that getting the medication does not mean that you don’t have to come to your appointments, that you don’t have to come to your standard of care appointments. We used to see patients every four months because that was pretty much dictated by one of the medications. Now with the COVID-19 [coronavirus disease 2019] situation, we’re obviously spacing out the visits a little more. But that doesn’t mean you should not have your follow-up with pulmonology, gastroenterology, or orthopedic surgery for scoliosis and so on. It’s very important to remind these families that this is not a cure.

Importance of Follow-Up Visits for SMA Amid COVID-19

We talked a little bit about how you practice in a tertiary medical center with a big team. Some of the patients with SMA [spinal muscular atrophy] are going to be taken care of by neurologists in the community who don’t do a lot of neuromuscular medicine. What advice would you have for them?

We try to be the experts in SMA in general. I think we’re a very good, open community, and we try to offer help. If you are a general neurologist who is treating one of these patients, always try to communicate with us from the other centers because it’s beneficial to have that connection. For example, if a research opportunity comes, the hospital that is going to get that research opportunity is going to be the center of referral—the tertiary care. It’s good to have that relationship with the person who is handling more patients. I think that’s the most important part of everything.

Advice to Community Neurologists Treating SMA

Cure SMA:  Evaluation of SMA in the Era of Telehealth

The NeurologyLive Cure Connections series, “Evaluation of Spinal Muscular Atrophy in the Era of Telehealth,” put on in partnership with Cure SMA, features Diana Castro, MD, and Garey H. Noritz, MD, who offer tips and demonstrations for screening and diagnosing SMA via telehealth. Additionally, resources provided by Cure SMA are outlined for families and clinicians who suspect SMA or have a patient diagnosed with SMA.