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Children with spinal muscular atrophy (SMA), a rare autosomal recessive disease that results in progressive muscle weakness and atrophy, can suffer the concerning consequences of dysphagia, which include coughing, choking, and aspiration of food or fluid. Because of these potential risks, newborn screening programs have emerged to address dysphagia at a time when symptoms may not yet be visible.

While there have been studies to evaluate aspects of safe swallowing, there has been less focus on evaluating the effectiveness of the children鈥檚 laryngeal vestibule closure, 鈥渢he primary mechanism and first line of defense for preventing material from penetrating the airway during swallowing.鈥�²

In a new article published in Pediatric Pulmonology, a team of nine researchers from the University of Florida, in Gainesville, discussed how 鈥減oor swallowing efficiency has been shown to be a risk factor for aspiration in subsequent swallows in other populations.鈥�¹ With disease-modifying therapies available to help patients with SMA, the investigators aimed to understand the effect of these treatments on swallowing, including the impact on safety and effectiveness over time.

How the analysis was conducted

This case series study retrospectively evaluated patients with genetically confirmed SMA who had completed 鈮�2 videofluoroscopy swallowing studies (VFSS) between birth and 12 months.¹ Patients who had been treated at the University of Florida鈥檚 Center for Pediatric Neuromuscular and Rare Diseases were identified from May 1, 2019, through December 31, 2022. The first evaluation was completed within the first month of the patient鈥檚 SMA diagnosis.

Data collected from patients鈥� health records included neuromotor outcomes, VFSS penetration aspiration scores (PAS), presence of abnormal oral or pharyngeal residue, clinical history, and the timing of administration of disease鈥恗odifying therapies.

A total of seven patients were included in the study (five male, two female). The median age at diagnosis was 10 days; three of the seven patients were diagnosed at birth during the newborn screening. The median age at initial VFSS was 29 days (range 9 to 246 days); for the last VFSS, it was 26.1 months (range 18.2 to 36.2 months).

Several patients improve after receiving therapy

All seven patients in the study required therapy with onasemnogene鈥恆beparvovec, and four needed additional therapies. The authors noted the positive effect treatments for SMA have had since their introduction, but they also mentioned future needs for SMA patients. 鈥淲hile these medications are known to have an impact in swallowing, our study emphasizes the importance of longitudinal evaluation of bulbar function in patients with SMA.鈥�¹

Additionally, four patients had unsafe swallowing, indicated by an abnormal PAS at diagnosis (score 鈮�3). Of the six patients requiring feeding modifications (including gastric feeding via a nasogastric or gastrostomy tube) to prevent aspiration after their VFSS results, three of them had silent aspiration (PAS 8), and three patients improved after receiving therapy. Of these six patients, four reached the point where they were able to have an unrestricted, age-appropriate oral diet.

鈥淎 novel aspect of this study is its characterization of the changes of swallowing efficiency over time,鈥� the authors wrote. 鈥淲hile our binary classification of normal or abnormal efficiency is semi鈥恞uantitative and somewhat limited, it provides a simple way to identify patients that could be at risk for aspiration.鈥�¹

A few final thoughts

Of note, 3 patients with unsafe swallowing as marked by the presence of silent aspiration had PAS 8, which the authors say necessitates 鈥渢he need for early evaluation and longitudinal formal assessments of swallowing after therapies, even in the case of children treated during the pre-symptomatic period.鈥�¹ Additionally, although the investigators recorded patients鈥� highest (worst) PAS, not all were evaluated under consistent circumstances given the study鈥檚 retrospective nature.

The authors insist that, while some important steps have already been taken to treat and manage patients with SMA, further work in the form of clinical trials is critical.

鈥淯ntil larger and more comprehensive studies of the physiologic changes of swallowing are available in patients with SMA, we strongly recommend that abnormal presence of oral or pharyngeal residue be reported and monitored over time in this population, especially in patients with clinical symptoms, prolonged respiratory infections, or suboptimal weight gain,鈥� they concluded.¹

Published: June 28, 2024