Evaluating Spinal Muscular Atrophy in the Era of Telehealth

Diana Castro, MD

TELEMEDICINE AND TELEHEALTH have gained much traction in clinical care over the last decade, and with the coronavirus disease 2019 (COVID-19) pandemic pushing many physicians and patients away from their centers and into the virtual model, it has never been more incorporated into regular care. For neurologists and neuromuscular specialists, however, this has led to some challenges due to the inability to conduct physical exams—a crucial part of the clinical routine.

Despite the challenges, the neuromuscular disease community has adjusted rapidly, and that shift was discussed by a pair of experts in the care of spinal muscular atrophy (SMA) in a recent segment of the NeurologyLive® Cure Connections® series, “Cure SMA: Evaluation of SMA in the Era of Telehealth.” The conversation featured insights from Diana Castro, MD, pediatric neurologist, Children’s Health; assistant professor, UT Southwestern Medical Center; center director, Cure SMA Care Center; and co-director, Muscular Dystrophy Association Clinic–Dallas; as well as pediatrician Garey H. Noritz, MD, division chief, Complex Health Care Program, Nationwide Children’s Hospital; and professor of pediatrics, The Ohio State University.

The duo dove into the experience at their respective centers, with topics of discussion ranging from the state of screening for SMA to the ins and outs of the telehealth visit with affected children and their parents, and beyond.

Garey H. Noritz, MD

Newborn Screening for SMA

In Texas, where Castro practices, newborn screening for SMA has not yet arrived, although Cure SMA, a patient advocacy group, continues to push for it nationwide. Like many pediatric neurologists treating SMA, Castro is in favor of this screening, particularly because of its success in patient identification. She noted that screening can catch 95% of the infants with SMA, in part because of the homozygous deletion of the SMN1 gene in 95% of cases of the disease. However, that remaining 5% may have a point mutation that can be caught only by sequencing the gene itself.

Castro noted that it has become important to her to ensure that the gene is fully sequenced and that the SMN2 copy number is included in the screening.

“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,” Castro explained. “Those patients are not going to be captured by the newborn screening. As a neurologist, if you still have that concern, you can send the [SMN1 gene sequence analysis] right away. The test will check for SMN1 deletion and sequencing, and it also will give you the SMN2 copy number.”

Additionally, carrier testing is available and has become a tool utilized by obstetricians and gynecologists across the United States to test mothers prior to pregnancy, or in its early stages; when positives are detected, the fathers are tested as well. In these instances, Castro said, amniocentesis can be performed but is often forgone due to its risks to the pregnancy. The screening for SMA, though, can be done 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 delivers the baby. The testing can be done the same day,” Castro said. “We have so many opportunities to get this diagnosis [but] 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.”

Signs and Symptoms of SMA

Physicians like Castro who don’t have the advantage of newborn screening must rely instead on the eyes, ears, and hands of pediatricians like Noritz—as well as family doctors, physical therapists, and families—to recognize potential signs of SMA.

Pediatricians are most often exposed to infants with SMA types 1, 2, and 3 (type 4 has adult-onset symptoms). Castro discussed the key signs to watch for in patients with each of these types.

Type 1 patients often appear with what Castro described as a “disconnect” between the face and the body. “Usually, these kids are beautiful. They are extremely alert. They look around. They seem to understand everything, even better than other children do,” she explained. Upon examining the body, though, “it’s almost like [it] is not connecting well with their face.”

Other key signs include low muscle tone, limited mobility, and absent reflexes. Additionally, individuals with SMA type 1 present with weak cry, difficulty swallowing during feedings, failure to thrive, and difficulty lifting extremities against gravity. From there, signs like breathing abnormalities can appear.

For SMA type 2, the referral point is often the inability to stand and walk. Many of these patients, Castro explained, can only sit. This often sparks parental concern and the journey to her office. On the other hand, patients with SMA type 3 are often able to stand and walk, but issues of falls and fatigue begin when children are aged 8 to 10 years or so. Type 3, for Castro, is the most difficult to diagnose due to the length of time it takes to appear.

“Pediatricians, I’m sure it’s sometimes hard for you to get reflexes checked, but I think it’s key,” she explained. “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.”

Telehealth During COVID-19

For Noritz, the biggest challenge in the last year has been the access to resources for families. Many communities nationwide were shut down out of necessity, leaving patients and their families to figure out the shift to telehealth on their own. As he put it, “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.”

Castro pointed to the Child Neurology Foundation’s telehealth tip sheet, which has served to help families navigate the telemedicine system. She also outlined her clinic as an example of how the system may work for some families. For her patients, schedulers will reach out to the families to inform them about the program and how to connect to it, which is followed by reminders and access to the platform’s app.

“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,” Castro said. “But all of us—not only the families, but all of us—are learning. We have to learn these different options for virtual care.”

Resources for Physicians and Families

In addition to the Child Neurology Foundation’s tip sheet, Castro and Noritz suggested several other SMA resources to help physicians and families, including Cure SMA and their standard-of-care guidelines.

Noritz noted that a general pediatrician’s chances of coming across a baby with SMA are not extraordinarily high, but they are present.

For Castro, Cure SMA stands as the best resource to offer, not only to the families of infants, but for the physicians in need of information. One of its key programs is the recently launched SMArt Moves program, which offers tools to help physicians in the diagnostic process. The website offers videos of key findings and suggests what physicians should be looking for to try to get the patient diagnosed. Additionally, the Cure SMA website offers the standard-of-care guidelines for reference, most recently updated in 2018.

“[Cure SMA is] 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,” Castro said.

To watch the entire NeurologyLive CURE Connections series, click here.

This activity was financially supported by the Cure SMA Industry Collaboration. At the time financial support was provided, members of the Collaboration included Genentech/Roche Pharmaceuticals, Novartis Gene Therapies, Biogen, Cytokinetics, and Scholar Rock.