Assessment of Bulbar Function in Adult Patients with 5q-SMA Type 2 and 3 under Treatment with Nusinersen

The antisense oligonucleotide nusinersen has been shown to improve trunk and limb motor function in patients with spinal muscular atrophy (SMA). Bulbar dysfunction, which is regularly present in SMA, is not captured by standard motor scores, and validated measurement instruments to assess it have not yet been established. Data on whether and how bulbar function changes under gene-based therapies in adult SMA patients are also unavailable. Here, we present data on the course of bulbar dysfunction assessed prospectively before nusinersen treatment initiation and 6 and 14 months later in 23 adult SMA patients using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (ALSFRS-R). While no improvement in bulbar scores was observed under treatment with nusinersen, the absence of a decline still implies a therapeutic effect of nusinersen on bulbar dysfunction. The results of this study aim to contribute to a standardized assessment of bulbar function in adult SMA patients, which may show therapeutic effects of gene-based therapies that are not evident from standard motor scores.

Nutritional Risk in Oculopharyngeal Muscular Dystrophy: Beyond Dysphagia

Purpose: To document the nutritional risk in adults with oculopharyngeal muscular dystrophy (OPMD) and its association with oropharyngeal dysphagia. Methods: In this cross-sectional study, 33 adults with molecular confirmation of OPMD between 50 and 75 years old were recruited from the registry of a university-affiliated neuromuscular clinic. Nutritional risk was assessed with the French version of Seniors in the Community: Risk Evaluation for Eating and Nutrition II (SCREEN II), whereas the severity of dysphagia was assessed using the French-Canadian version of the Sydney Swallow Questionnaire. Anthropometric measurements were performed with standardized procedures. Results: SCREEN II scores showed high nutritional risk for 81.8% of OPMD participants with 6 factors contributing to nutritional risk in at least 50% of the sample. Pearson’s correlational analysis showed a significant moderate relationship between dysphagia and nutritional risk (r = −0.470; P = 0.006). Conclusion: To our knowledge, this study is the first to investigate the nutritional risk of adults with OPMD. Our results indicate that individuals with OPMD may be at high nutritional risk mostly associated with swallowing difficulty, in the absence of a low body mass index. The present study highlights the need for dietary counseling in OPMD.

Der deutsche Sydney Swallow Questionnaire

Zusammenfassung Hintergrund Der Sydney Swallow Questionnaire (SSQ) ist ein patientenbasierter Fragebogen zur Erhebung von subjektiven Beschwerden oropharyngealer Schluckstörungen unterschiedlicher Ursachen, mit starker inhalts-, konstrukt-, diskriminativer und prädiktiver Validität. Ziel der Arbeit/Fragestellung Ziel dieser Arbeit war die Überprüfung der Reliabilität und Validität der deutschen Fassung des Sydney Swallow Questionnaire (SSQ-G). Material und Methode In einer Kreuzvalidierungsstudie füllten 48 erwachsene deutschsprachige Patienten (12 Frauen/36 Männer) mit neurogen (n = 16), strukturell (n = 16) und funktionell (n = 16) bedingten Schluckstörungen den deutschen SSQ‑G und MD Anderson Dysphagia Inventory (MDADI) aus. Die Reliabilität des SSQ‑G wurde anhand der internen Konsistenz mittels Cronbach‑α berechnet. Die Überprüfung der Kriterien- und der Konstruktvalidität erfolgte durch eine Kreuzvalidierung mittels Spearman-Korrelationskoeffizient. Ergebnisse Die interne Konsistenz des SSQ‑G war mit Cronbach-α = 0,94 exzellent. Die SSQ-G-Fragen 1 und 17 wiesen mit MDADI-Frage 1 einen moderat signifikanten bzw. hochsignifikanten Korrelationskoeffizienten von −0,43 und −0,45 auf (p < 0,5; p < 0,001). Zwischen Fragen 8, 11 und 12 des SSQ‑G und Fragen 7, 13 und 10 des MDADI lag mit Korrelationen von −0,48 bis −0,55 ein mittlerer bis starker hochsignifikanter Zusammenhang vor (p < 0,001). Somit wurden die Reliabilität, die Kriteriums- und Konstruktvalidität statistisch bestätigt. Schlussfolgerung Mit der deutschen Version des SSQ (SSQ-G) können funktionsspezifische Schluckbeschwerden reliabel und valide erfasst werden. In Kombination mit Fragenbögen zur symptomspezifischen Lebensqualität wie dem MDADI ist somit eine differenziertere klinische Analyse von Schluckbeschwerden möglich.

Novel Therapeutic Strategy for Pharyngoesophageal Stricture following Total Laryngectomy

Current therapeutic strategies for pharyngoesophageal stricture, while effective in the short term, are protracted and costly in the longer term. Conceptually, if a stricture can be dilated with minimal tissue injuries, the rate of fibrosis and the resultant stricture recurrence could be reduced. We evaluated a prototype computer-controlled syringe pump device programmed to distend a commercially available balloon dilator at variable rate, asserting incremental lumen distension pressures tailored to the resistive force encountered within the stricture. We completed 17 graded dilatation procedures among 4 total laryngectomy patients. All patients had a short-term response (1 month), with a mean decrement (improvement) in Sydney Swallow Questionnaire score of 448 (total score range, 0-1700; normal <234). The overall procedural tolerability and safety were encouraging; the only complication was the displacement of the voice prosthesis during 1 dilatation. From a technical viewpoint, the main challenge was to maintain the balloon in position during dilatation.