Trajectory of change in the swallowing status in spinal muscular atrophy type I

Abstract

ObjectivesThis study aimed to elucidate the change in progressive swallowing dysfunction from birth up to 2 years of age to provide clinical insights into the management of swallowing difficulty in patients with spinal muscular atrophy (SMA) type I. MethodsData of 11 patients with SMA type I were retrospectively reviewed. The Neuromuscular Disease Swallowing Status Scale (NdSSS) scores and videofluoroscopic swallowing study (VFSS) were used. ResultsSwallowing function deteriorated in patients with SMA type I at an approximate age of 6 months. Tube feeding was initiated at the median age of 6 months (interquartile range, 3–7 months). The transition period for switching the feeding route from totally oral to tube feeding varied widely among patients (5–12 months). In four patients, aspiration was observed in VFSS, even when nutrition was provided orally. In two patients, the evidence of laryngeal aspiration was obtained via the VFSS during the very early stages of the disease at 3 and 4 months. Conversely, in one patient, total oral feeding was maintained for up to 12 months, and evidence of aspiration was not observed in the VFSS. ConclusionAn individualized approach is essential, as the timeline of deterioration of swallowing function varies widely in patients with SMA type I.