Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy - a systematic review of assessment modalities and outcomes

Sep 30, 2026

Uploaded by Franzy

Feeding and swallowing deficits occur across spinal muscular atrophy (SMA), often worsening with disease severity. While disease-modifying therapies (DMTs) improve survival and motor function, limited evidence clarifies their effect on bulbar integrity, where symptoms may persist. This systematic review identified swallowing assessments and evaluated DMT impacts using Embase, MEDLINE, and Cochrane Central searches from May 2021 to February 2024.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages36

Reading Time1 h 31 min

AccessFree to download

Abstract

Background

Results

Conclusion

Keywords

Martí et al. Orphanet Journal of Rare Diseases (2026) 21:7 [https://doi.org/10.1186/s13023-025-04118-z](https://doi.org/10.1186/s13023-025-04118-z) Orphanet Journal of Rare Diseases REVIEW Open Access Swallowing and feeding after diseasemodifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes Yasmina Martí1*, Ksenija Gorni 1, Sandhya Kumari2, Anadi Mahajan2, Giovanni Baranello3, Liesbeth De Waele4,5 and Katlyn E. McGrattan6,7 Abstract Background Feeding and swallowing deficits are reported across the spectrum of spinal muscular atrophy (SMA), with more profound symptoms associated with more severe disease. Patients treated with disease-modifying therapies (DMTs) demonstrate significantly improved life expectancy and motor function relative to untreated counterparts; however, limited data exist regarding the impact of DMTs on bulbar integrity, with evidence suggesting bulbar symptoms may persist, even when motor function has improved. This systematic literature review was conducted to identify assessments used to evaluate swallowing in patients with SMA treated with DMTs, and to describe the impact of DMTs on swallowing and feeding outcomes. Embase, MEDLINE, and Cochrane central were searched from May 2021 to February 2024 for studies reporting swallowing and feeding outcomes in patients treated with nusinersen, onasemnogene abeparvovec, and risdiplam. Results Seventy-one studies were included. The majority of studies (99%, n = 71) reported functional swallow outcomes, such as oral intake status or patient-reported outcomes, and only 19% reported results from clinicianadministered assessments. Results from imaging assessments were rarely reported (5%, n = 4 studies) . Only 68% of studies reported results from both pre-and post-treatment assessments. Patients who received DMT prior to symptom onset were found to have good functional outcomes, with 84–100% receiving full oral nutrition. Treatment after symptom onset yielded variable results, with trends suggesting that treatment outcomes are influenced by the level of impairment at baseline and the type of swallowing assessment used. The ability to maintain pre-treatment swallow integrity was variable across studies. Conclusion Although evidence suggests that DMTs can preserve or improve bulbar function in SMA, swallowing and feeding are not regularly or homogeneously assessed across the literature, making comparisons across studies difficult. Standardised and validated assessments of swallowing physiology and swallowing function are needed to understand what factors may influence bulbar outcomes with DMTs. *Correspondence: Yasmina Martí [yasmina. marti_gil@roche.com](yasmina. marti_gil@roche.com) Full list of author information is available at the end of the article © The Author(s) 2025. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creativecommons.org/l](http://creativecommons.org/l)icenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ([http://creativecommons.org/publicdomain/zero/1.0/](http://creativecommons.org/publicdomain/zero/1.0/)) applies to the data made available in this article, unless otherwise stated in a credit line to t

FAQs

What was the goal of this systematic review in SMA patients treated with DMTs?

To identify assessment modalities used to evaluate swallowing in SMA patients receiving disease-modifying therapies and to describe how DMTs affect swallowing and feeding outcomes.

How many studies were included, and what assessment types were most commonly reported?

Seventy-one studies were included. Most studies (99%) reported functional swallow outcomes such as oral intake status or patient-reported outcomes, while only 19% used clinician-administered assessments.

Did DMTs lead to consistent improvements in swallowing and feeding outcomes?

Results suggested better functional outcomes when treatment was given before symptom onset, including high rates of full oral nutrition. When treatment occurred after symptom onset, outcomes varied, influenced by baseline impairment level and the type of swallowing assessment used.

Sep 30, 2026

Uploaded by Franzy