Wait times for SMA specialists found shorter than for neurologists

Survey researchers stress the importance of early diagnosis and treatment

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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Infants with suspected spinal muscular atrophy (SMA) who are directly referred to an SMA care center may experience shorter wait times than those referred to general neurology practices, according to a survey of these specialists deployed by Cure SMA.

While both types of practices reported using triage methods to screen referrals for the most urgent cases, SMA care centers may have a more efficient process for that based on “key emergency words” mentioned in the referral.

“Our findings highlight areas of opportunity for all neurology/neuromuscular healthcare professionals to reduce the time to diagnosis and disease-modifying treatment for infants with SMA,” the researchers wrote.

“Cure SMA encourages … specialists to deem referrals for the evaluation of infants with a suspected diagnosis of SMA as urgent and prioritize scheduling within 2 weeks.”

Survey findings were described in “Assessment of Barriers to Referral and Appointment Wait Times for the Evaluation of Spinal Muscular Atrophy (SMA): Findings from a Web-Based Physician Survey,” published in Neurology and Therapy.

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Pushing for something positive after our baby’s SMA diagnosis

It’s now well-recognized that an early SMA diagnosis and sooner initiation of disease-modifying therapies are critical for SMA patients to achieve better outcomes. That early treatment is particularly critical for infants with SMA type 1, who typically fail to reach motor milestones and do not survive past toddlerhood if left untreated.

Newborn screening (NBS) programs, which identify the genetic defect that causes SMA at birth, have contributed to earlier SMA diagnoses in recent years, enabling interventions to be started before symptoms emerge.

Regardless of whether SMA is identified via NBS or suspected because of related symptoms, it is critical that a child be promptly referred to a specialist who can confirm the diagnosis and determine the right course of treatment.

Despite such recommendations, “diagnostic delays remain prevalent,” the researchers wrote.

The survey’s findings

Cure SMA previously surveyed a group of general pediatricians in the U.S., which identified that prolonged wait times for specialized neurology appointments were a contributing factor to these delays.

To learn more about this issue from the perspective of the specialist providers, Cure SMA surveyed two groups of physicians: those affiliated with SMA care centers in the U.S. as well as a group of general neurologists and neuromuscular specialists who see pediatric patients.

They received a total of 305 responses, including 279 from the general practice group and 26 from SMA care centers.

More than 80% of respondents in either group indicated that patients waited, on average, more than two weeks to see a specialist after a referral was made.

However, wait times among infants referred to the clinic because of low muscle tone (hypotonia) and motor delays — both core features of SMA — significantly differed between the two groups of practitioners.

While 61.5% of such patients were seen within two weeks at an SMA care center, only 39.1% of these symptomatic patients were seen within two weeks in the general practice group.

Similar patterns were observed for patients who were physician-referred because of “suspected SMA.”

When the survey was deployed, 32 U.S. states were using NBS programs for SMA, which are now used in all 50 states. All SMA specialists reported seeing patients referred because of NBS within two weeks, whereas this wait time was only reported in 48% of general neurology specialists.

The physicians in both groups were also asked about factors that influenced wait times for an SMA evaluation.

Both groups of physicians indicated that “clinician availability/clinic hours” and “restrictions on providers’ options due to insurance” were the top two referral barriers contributing to wait times for patients.

The majority of both groups of physicians — about 85% of the general practice group and 100% of SMA centers — reported that they triaged incoming referrals, meaning that they screened and prioritized incoming cases to expedite the process for urgent ones.

SMA care centers more often used centralized call center staff or nurses and nurse coordinators to assist with this triage process than the general practice group.

At these centers, infants presenting with hypotonia and motor delays were more likely to see shorter wait times (two weeks or less) if nurses or nurse coordinators who were responsible for triage referrals saw “key emergency words.”

“Collaborative research between pediatricians and neurologists/neuromuscular specialists to develop a standardized set of key emergency words may be beneficial to both types of practices as well as to infants with SMA,” the researchers noted.

Altogether, “these results indicate that the time to diagnosis and treatment can be shortened by referring infants with suspected diagnosis of SMA Type 1 directly to centers with prior expertise in SMA evaluation and treatment,” the researchers wrote.

Still, they noted that access to speciality care may be limited and is not always possible.

Resources to help general neurologists and neuromuscular specialists reach an SMA diagnosis more readily may therefore also be helpful.