• A recent study has shown that more timely screening and greater awareness among pediatricians is needed to diagnose spinal muscular atrophy (SMA) early.
• Two surveys sent to pediatricians in 2018 and 2019 found that roughly half know how to diagnose SMA, and 70 percent are comfortable doing so.
• These surveys highlight the need for continuing education among pediatricians and fewer barriers to screening for neuromuscular diseases (NMDs) including SMA.

A recent study has highlighted the need for removing barriers to timely SMA screening and increasing awareness among pediatricians for diagnosing the condition. The study was based on responses to two surveys, developed by the nonprofit Cure SMA, to gauge pediatricians’s confidence level in screening for — and diagnosing — SMA.

“Many pediatricians underutilize developmental screening tools and lack familiarity with diagnostic requirements for SMA,” according to the study, published in BMC Pediatrics. “Continuing efforts to expand awareness and remove barriers to timely referral to SMA specialists, including reducing appointment wait times, are needed.”

SMA is a genetic disease that affects the motor neurons, which are responsible for controlling muscle movements. It is characterized by muscle wasting and weakness, and the symptoms are often noticeable in infancy. The three most common types of SMA are typically diagnosed before age 3.

Early Diagnosis Is Key To Treating SMA

SMA is a progressive disease, and if left untreated, can cause permanent nerve damage. Early diagnosis and treatment can help slow disease progression and even save lives. There are currently three therapies approved by the U.S. Food and Drug Administration (FDA) for treating SMA:

• Evrysdi (risdiplam)
• Spinraza (nusinersen)
• Zolgensma (onasemnogene abeparvovec-xioi)

These therapies are most effective when started at a young age. For example, Zolgensma is given to children less than 2 years old, and Evrysdi is given to infants as young as 2 months old. Spinaraza is given to patients as young as 3 days old. In order to begin treatment this early, there must first be a diagnosis of SMA.

The American Academy of Pediatrics and the U.S. Department of Health and Human Services recommend screening newborns for SMA. However, not all states require this testing and not all pediatricians know to perform it. According to the study, 68 percent of newborns in the U.S. are screened for SMA — though Cure SMA puts the figure closer to 85 percent.

Though screening rates have increased over the years, the tests aren’t always conducted as early as would be ideal. “Although early diagnosis and treatment is vital to allow for effective interventions before severe permanent neuron damage occurs, significant diagnostic delay for SMA patients persists,” according to the study. “Recent literature reviews indicate that SMA Type I infants are not diagnosed until the mean age of 6.3 months … despite findings that average symptom onset occurs at approximately 2.5 months.”

With this in mind, Cure SMA conducted two studies to understand what the barriers are for timely screening and diagnosis of SMA.

Improved Awareness and Screening Needed for SMA

Cure SMA developed two surveys that were sent to pediatricians in the U.S. in 2018 and 2019. A total of 300 pediatricians responded to the first survey (out of 21,264), and 600 responded to the second survey (out of 19,096). The first survey asked questions about the pediatricians’ familiarity and awareness of SMA, while the second asked about screening.

The 2018 survey showed that 52.7 percent of the pediatricians who responded knew how to correctly diagnose SMA with genetic testing. Another 31 percent selected the incorrect answer of muscle biopsy. The survey also showed that 56 percent of those who responded perform screening for SMA during each wellness visit.

In the 2019 survey, 70.3 percent of those surveyed said that they were comfortable with recognizing the early signs of a neuromuscular disorder, such as SMA. However, those who responded that they were “moderately or extremely comfortable” were more likely to refer patients to a specialist.

Some barriers to seeing a specialist that were cited by survey respondents included a lack of insurance coverage and lack of specialists in the area. “While providers are encouraged to immediately refer the patient to a neurologist, pediatric neurologist, or neuromuscular specialist for evaluation and genetic testing, a critical barrier is lengthy wait times for a specialist appointment, for patients with symptoms of NMD and possible SMA,” according to the study.