Endoscopy can help collect valuable information about the status of dysphagia in patients with spinal muscular atrophy (SMA) type 1, according to a new study published in the European Archives of Oto-Rhino-Laryngology. Endoscopy can be particularly useful when oral intake is limited, according to the study authors.

To explore the usefulness of endoscopy in evaluating swallowing in infants and toddlers with SMA type 1, a team of researchers from Germany conducted a prospective pilot study in 10 symptomatic children with SMA type 1. 

All children started treatment with 1 of the 3 currently approved disease-modifying therapies for SMA, namely, risdiplam, nusinersen, or onasemnogene abeparvovec, between ages 0.7 to 8.9 months.

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At the time the study started, 8 children already had distinct swallowing disorders. 

The researchers reported that the most common findings from flexible endoscopic evaluation of swallowing were pooling of pharyngeal secretions, penetration, saliva and food aspiration, and delayed swallowing initiation.

Even though the motor function of the children increased following treatment, there was no improvement in swallowing. 

The researchers also reported that none of the clinical scores that were surveyed showed a significant dependence on the Penetration–Aspiration Scale (PAS), a widely used scale to identify and rate the severity of penetration and aspiration events.

“Currently available clinical tools for children with type 1 may represent a change in nutritional status but are not yet mature enough to conclude swallowing ability,” the researchers concluded. “Further development is still required.” 

SMA type 1 is the most severe and common form of SMA, which like the other types of the disease, is caused by a mutation in the SMN1 gene. The symptoms of SMA type 1 usually appear within the first 6 months of life and include hypotonia, and breathing and swallowing difficulties.


Zang J, Johannsen J, Denecke J, et al. Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy. Eur Arch Otorhinolaryngol. Published online October 8, 2022. doi:10.1007/s00405-022-07685-0