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Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment

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Title: Risdiplam improves subjective swallowing quality in non-ambulatory adult patients with 5q-spinal muscular atrophy despite advanced motor impairment
Authors: S. Brakemeier, J. Lipka, M. Schlag, C. Kleinschnitz, T. Hagenacker
Source: J Neurol
Publisher Information: Springer Science and Business Media LLC, 2024.
Publication Year: 2024
Subject Terms: Male, Adult, Original Communication, Medizin, Middle Aged, Spinal Muscular Atrophies of Childhood, Deglutition, Muscular Atrophy, Spinal, Young Adult, 03 medical and health sciences, Pyrimidines, Treatment Outcome, 0302 clinical medicine, Deglutition/drug effects [MeSH], Aged [MeSH], Risdiplam, Swallowing, Azo Compounds [MeSH], SSQ, Male [MeSH], Spinal Muscular Atrophies of Childhood/complications [MeSH], Muscular Atrophy, Spinal/drug therapy [MeSH], Spinal Muscular Atrophies of Childhood/physiopathology [MeSH], Deglutition Disorders/drug therapy [MeSH], Deglutition Disorders/etiology [MeSH], Spinal Muscular Atrophies of Childhood/drug therapy [MeSH], Pyrimidines/pharmacology [MeSH], ALSFRS-R, Female [MeSH], Adult [MeSH], Humans [MeSH], Prospective Studies [MeSH], Treatment Outcome [MeSH], Middle Aged [MeSH], Pyrimidines/therapeutic use [MeSH], Deglutition Disorders/physiopathology [MeSH], Young Adult [MeSH], Deglutition/physiology [MeSH], Spinal muscular atrophy, Muscular Atrophy, Spinal/physiopathology [MeSH], Humans, Female, Prospective Studies, Deglutition Disorders, Azo Compounds, Aged
Description: Background 5q-associated spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons with consecutive weakness and atrophy of the limb, respiratory, and bulbar muscles. While trunk and limb motor function improve or stabilize in adults with SMA under nusinersen and risdiplam treatment, the efficacy on bulbar function in this age group of patients remains uncertain. However, it is important to assess bulbar dysfunction, which frequently occurs in the disease course and is associated with increased morbidity and mortality. Methods Bulbar function was evaluated prospectively in 25 non-ambulatory adults with type 2 and 3 SMA before and 4 and 12 months after risdiplam treatment initiation using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (b-ALSFRS-R). Extremity function was assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). Results Subjective swallowing quality, measured with the SSQ, improved after 12 months of therapy with risdiplam. For the b-ALSFRS-R, a non-significant trend towards improvement was observed. The RULM score improved after 12 months of risdiplam therapy, but not the HFMSE score. HFMSE and RULM scores did not correlate with the SSQ but the b-ALSFRS-R score at baseline. Conclusions The improvement in subjective swallowing quality under risdiplam treatment, despite an advanced disease stage with severe motor deficits, strengthens the importance of a standardized bulbar assessment in addition to established motor scores. This may reveal relevant treatment effects and help individualize treatment decisions in the future.
Document Type: Article
Other literature type
Language: English
ISSN: 1432-1459
0340-5354
DOI: 10.1007/s00415-024-12203-9
Access URL: https://pubmed.ncbi.nlm.nih.gov/38358553
https://repository.publisso.de/resource/frl:6517615
Rights: CC BY
Accession Number: edsair.doi.dedup.....04438a78cffa80eb7235b0ab37c073e5
Database: OpenAIRE
Description
Abstract:Background 5q-associated spinal muscular atrophy (SMA) is characterized by the progressive loss of motor neurons with consecutive weakness and atrophy of the limb, respiratory, and bulbar muscles. While trunk and limb motor function improve or stabilize in adults with SMA under nusinersen and risdiplam treatment, the efficacy on bulbar function in this age group of patients remains uncertain. However, it is important to assess bulbar dysfunction, which frequently occurs in the disease course and is associated with increased morbidity and mortality. Methods Bulbar function was evaluated prospectively in 25 non-ambulatory adults with type 2 and 3 SMA before and 4 and 12 months after risdiplam treatment initiation using the Sydney Swallow Questionnaire (SSQ) and the bulbar subscore of the Amyotrophic Lateral Sclerosis Functional Rating Scale Revised (b-ALSFRS-R). Extremity function was assessed using the Hammersmith Functional Motor Scale Expanded (HFMSE) and Revised Upper Limb Module (RULM). Results Subjective swallowing quality, measured with the SSQ, improved after 12 months of therapy with risdiplam. For the b-ALSFRS-R, a non-significant trend towards improvement was observed. The RULM score improved after 12 months of risdiplam therapy, but not the HFMSE score. HFMSE and RULM scores did not correlate with the SSQ but the b-ALSFRS-R score at baseline. Conclusions The improvement in subjective swallowing quality under risdiplam treatment, despite an advanced disease stage with severe motor deficits, strengthens the importance of a standardized bulbar assessment in addition to established motor scores. This may reveal relevant treatment effects and help individualize treatment decisions in the future.
ISSN:14321459
03405354
DOI:10.1007/s00415-024-12203-9