Diana Castro, MD, Children’s Heath UT Southwestern

Finally, what advice do you have for the community pediatricians who are evaluating hypotonia and suspect spinal muscular atrophy [SMA]?

The first thing is to recognize it. The way to do that is to pick up a baby and feel they’re floppy in your hands; we see this not infrequently. Most of those children are not going to have spinal muscular atrophy. Many of them will just be a little floppy in early childhood, and that will get better. But some of these children will have something like spinal muscular atrophy. It could be a different disease. It could be muscular dystrophy. It could be cerebral palsy, but they’re not spastic yet.

The first thing we would say to the pediatrician is to recognize it and then check the newborn screen. If you’re in a state where SMA is on the newborn screening panel, that’s great. You can tell with about 95% certainty that the child doesn’t have SMA if they were negative SMA. But nothing is 100%. There are children with SMA that won’t screen positive on the newborn screen. The next thing we would recommend that pediatricians do for a hypotonic baby is check a CK, or creatine kinase, as well as a TSH [thyroid-stimulating hormone] to look for thyroid problems because those will cause floppiness. It’s a cheap and easy blood test to do.

If you do suspect SMA for whatever reason—the appearance of the baby, the appearance of the breathing, lack of reflexes, fasciculations of the tongue—just go ahead and send SMA testing, which is the SMN1 gene deletion. The testing does not require any prior authorization. There are programs available to help get it paid for, and it’s important to get it done as quickly as you can. You don’t have to wait for the diagnosis to come back confirmed to start treating the patient. You can send those blood tests and call or e-mail the neurologist and say, “I’ve got somebody I’m really worried about.” You can get them referred to early intervention, therapy, and other things because even if they don’t have SMA, they probably are still going to need early intervention and other help. There’s no reason to delay those things or delay getting them into the specialist to do the confirmatory tests.

Dr Noritz, thank you so much. It was a very interesting conversation. Thank you for watching this HCPLive® Cure Connections® program. If you’re enjoying the content, please subscribe to our e-newsletter to receive upcoming programs and other great content in your inbox. Thank you so much.

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Closing thoughts on advice to community pediatricians evaluating a baby for spinal muscular atrophy (SMA). 

Advice to Community Pediatricians Evaluating SMA

 What resources are available for physicians and families who suspect or have a patient diagnosed with spinal muscular atrophy [SMA]?

It’s a lot to drop that diagnosis on a family, and you want to get them support, as well as the pediatrician. There’s an organization called Cure SMA, which is for families, providers, and researchers. It brings them all together to provide care for people with SMA. They have a very nice way of reaching out to newly diagnosed families to get them information and welcome them into the community and so on. Now they have a website and a program called SMArt Moves, which targets both families and pediatricians to help people understand what they should be looking for if they suspect SMA or if they see something that could potentially be SMA. There are videos there, a diagnostic toolkit, and a reference guide. These are some things that both families and pediatricians can use to help point them in that direction.

Separately, there’s a set of standard-of-care documents that were written by SMA experts and have evidence-based information about the diagnosis and treatment of SMA. They’re peer reviewed and available through Medline and also on the Cure SMA website. It’s a very quick place to go and get them. There are all sorts of stuff there, from diagnosis through the care of the adults with SMA.

That’s great. Do you know any resource that is available for families to navigate the telehealth world?

Yes. All families and all the doctors could use a little help getting used to telehealth. The Child Neurology Foundation put out a tip sheet that’s aimed at families. It includes what you might expect from a telehealth visit, how to get ready for a telehealth visit, and how to troubleshoot a telehealth visit. It’s very helpful.

Several spinal muscular atrophy (SMA) resources are suggested to help physicians and families: Cure SMA, SMArt Moves, SMA Standard of Care documents, and the Child Neurology Foundation’s Telehealth Tip Sheet.

SMA Resources for Physicians and Families 

We have talked a lot about the physical examination, but I really would like to have a good summary of the things we should definitely look for and try to examine or try to maneuver through the telehealth in these cases.

 It’s a little odd to tell a neurologist what I think you should look for when you’re looking for SMA [spinal muscular atrophy]. But the hallmarks of SMA are being very weak, muscle wasting, absence of deep tendon reflexes, and fasciculations. If you see those things, which are quite rare, they mean that you’re looking at a child with some kind of a motor neuron problem. They’re not all SMA, but SMA is by far the most common thing we’ll see in children.

Most of the kids we see for whom we’re concerned about motor development have SMA, but a lot of them may not have any disease; they are just a little behind and need a little help to get over the hump. We don’t want to just ignore that. Other things that you might see include the bell-shaped chest. You can pull the child up by the arms and see how much head lag there is. When you do that to lots of babies at many ages over long periods of a career, you get a sense of what’s normal. An infant is allowed to have some head lag. That’s normal for a newborn, but that should go away. It’s not a good sign when older kids still have a head lag, so that kind of thing we should be alert for. Often, they also have this posture leg, what we call a frog leg, and that’s a posture of hypotonia, where the legs are splayed out. A typical infant will keep the hips and knees flexed up most of the time.

We talk a lot about the little ones, but you obviously sometimes end up getting a patient with type 2 or type 3. That would be the same thing in terms of following the development and trying to make sure they’re hitting those right milestones or the milestones on time, right? If the findings of the remote physical examination are suggestive for spinal muscular atrophy, how should providers proceed? What do you recommend to your colleagues?

Right. SMA is not something to wait and see how it does. That’s something where you really need to put out a red flag and say, “I need some help over here.” As you mentioned, as a neurologist, when you get a referral and it says, “I’m worried about SMA,” you’re going to get that baby in that day or the next day—certainly the next possible time that you can. If you’re not available, you’re going to get a colleague to see the baby, and that’s why it’s so important to know your neurologist and tell them, “This is what I’m worried about.” Rather than just, “I think the child may have a developmental problem,” which is not a red flag. 

You’re going to evaluate lots of children with developmental problems. You’ll get to them as quickly as you can, but there are a lot of them, and typically they’re not such a time-sensitive issue. Usually, what I would do is call a neurologist myself and say, “This is somebody I’m worried about. I hope I’m wrong, but I need you to see them as quickly as you can because they might have SMA or a brain tumor.” Whatever it is that I’m worried about, if it’s something very serious and fast-acting, like SMA or a brain tumor—just to name two—I’m going to say, “Please help me get them evaluated as quickly as possible.”

I like that you take the time to get on the phone. It’s old school, but it’s the fastest. It’s the best way to try to help these patients right away. I try to give my cell phone number to pretty much everybody to try to have that connection. Sometimes people send a text. We have called, and that has greatly helped in trying to help patients faster. I appreciate that you also take the time to do that.

Experts suggest what to look for during a virtual examination during COVID-19 that may suggest a diagnosis of spinal muscular atrophy (SMA). If SMA is suspected, they stress the importance of an evaluation, as soon as possible, with a neurologist.

Hallmark Signs of SMA in Pediatric Patients 

During this time, what’s your workflow for remote visits? How does it work in your practice?

I work in a primary care team that includes a dietitian, a social worker, and so on, and we do a group visit over Zoom. As the doctor, I will usually go on first, but if I’m tied up talking to one patient, one of my team might start with another patient. Generally, I do my part of the visit. I talk to the family member, I look at the baby, I listen to what their concerns are, and then I go through in my head the checklist of things I would normally do at that age visit in terms of developmental screening and surveillance. 

Generally, those formal screening visits are at 9, 18, and 30 months. The babies with very severe SMA [spinal muscular atrophy] are going to be evident much earlier because of how weak they are. But we might pick up on the less severe patients during those developmental screens. More important, to some extent, is the surveillance: going through the visit to see how they’re doing, if they can sit by themselves, and how they are holding up. If you don’t have a weight to look at, you can still look at a child and say, “They look pretty well nourished; that’s good,” or “I’m a little concerned; they look a little bit bony.” So we’ll do that part of things.

The other team members can alert me on the newborn screen, as if the dietitian picked up on something. At the same time we have the video visit, I have another screen with a chat with all my folks. They’ll say something like, “Can you go back to this 1? The mom has questions about bowel movement.” It’s interesting. It’s almost like being an air traffic controller, doing this but also paying attention elsewhere.

 Do the families get called by somebody from your office to tell them about the system and what they can do to assist in the physical examination? Do they get prepared? For example, new parents who don’t know what to look for.

 It’s different in different systems and in different offices. To some extent, for our folks, the first time they use our computer system, they log on through the patient portal and the medical record. They get a notification that it’s time for the visit. They log on to the visit, and when I see that they’ve logged on to the visit, I log on and we start. But the first time, somebody from registration needs to talk to them and say, “You’re going to need to download this onto your phone. You’re going to need to be in a place where it’s quiet. You’re going to need to be with the baby. Don’t just come and tell us about the baby. We want to see the baby.” They can assist in resetting passwords and all those things, because it is secure, which is nice. So they get a little a tutorial, especially the first time. But once they’ve done it, they do it very easily without a lot of problems.

You guys work with Epic, so you have the capacity of getting videos and things the family could send even before the visit, right? Is that a possibility?

 Dr Noritz, thank you so much. It was a very interesting conversation. Thank you for watching this HCPLive® Cure Connections® program. If you’re enjoying the content, please subscribe to our e-newsletter to receive upcoming programs and other great content in your inbox. Thank you so much.

The workflow for a remote visit during COVID-19 is outlined.

Diana Castro, MD, Children’s Heath UT Southwestern

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