Dysphagia phenotypes in spinal muscular atrophy: The past, present, and promise for the future

Katlyn Elizabeth McGrattan, Robert J. Graham, Christine J. Didonato, Basil T. Darras

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Purpose: The aim of this study was to provide clinicians with an overview of literature relating to dysphagia in spinal muscular atrophy (SMA) to guide assessment and treatment. Method: In this clinical focus article, we review literature published in Scopus and PubMed between 1990 and 2020 pertaining to dysphagia in SMA across the life span. Original research articles that were published in English were included. Searches were conducted within four themes of inquiry: (a) etiology and phenotypes, (b) respiratory systemic deficits and management, (c) characteristics of natural history dysphagia and its treatment, and (d) dysphagia outcomes with disease-modifying therapies. Articles for the first two themes were selected by content experts who identified the most salient articles that would provide clinicians foundational background knowledge about SMA. Articles for the third theme were identified using search terms, including spinal muscular atrophy, swallow, dysphagia, bulbar, nutrition, g-tube, alternative nutrition, jaw, mouth, palate, OR mandible. Search terms for the fourth theme included spinal muscular atrophy AND nusinersen OR AVXS-101/onasemnogene abeparvovec-xioi. Review of Pertinent Literature: Twenty-nine articles were identified. Findings across identified articles support the fact that patients with SMA who do not receive disease-modifying therapy exhibit clinically significant deficits in oropharyngeal swallow function. Few investigations provided systematic information regarding the underlying physiological deficits responsible for this loss in function, the timing of the degradation, or how disease-modifying therapies change these outcomes. Conclusion: Future research outlining the physiological and functional oropharyngeal swallowing deficits among patients with SMA who receive disease-modifying therapy is critical in developing standards of dysphagia care to guide clinicians.

Original languageEnglish (US)
Pages (from-to)1008-1022
Number of pages15
JournalAmerican journal of speech-language pathology
Volume30
Issue number3
DOIs
StatePublished - May 18 2021

Bibliographical note

Funding Information:
Katlyn Elizabeth McGrattan has received grant funding and consulting income from Biogen and AveXis but has no financial interest in these companies. She also receives funding from the National Institutes of Health (NIH; 1R41HD104305-01). Christine J. DiDonato is partially supported by grants from NIH (R01NS060926 and R21NS103107), Muscular Dystrophy Association (MDA418685), and CureSMA (DID1617 and DID1718). Basil T. Darras has received research support from the National Institute of Neurological Disorders and Stroke, the Slaney Family Fund for SMA, the Spinal Muscular Atrophy Foundation, CureSMA, and Working On Walking Fund and has received grants from Ionis Pharmaceuticals, Inc., for the ENDEAR, CHERISH, and CS2/ CS12 studies; from Biogen for CS11; and from Cytokinetics, Sarepta Pharmaceuticals, PTC Therapeutics, Fibrogen, and Summit. The authors would like to express their deepest gratitude to the patients and families impacted by spinal muscular atrophy whom they have cared for and have inspired this work. They would also like to thank Biogen?s support in bringing spinal muscular atrophy providers together to improve dysphagia management and promote continued dysphagia investigation.

Funding Information:
Katlyn Elizabeth McGrattan has received grant funding and consulting income from Biogen and AveXis but has no financial interest in these companies. She also receives funding from the National Institutes of Health (NIH; 1R41HD104305-01). Christine J. DiDonato is partially supported by grants from NIH (R01NS060926 and R21NS103107), Muscular Dystrophy Association (MDA418685), and CureSMA (DID1617 and DID1718). Basil T. Darras has received research support from the National Institute of Neurological Disorders and Stroke, the Slaney Family Fund for SMA, the Spinal Muscular Atrophy Foundation, CureSMA, and Working On Walking Fund and has received grants from Ionis Pharmaceuticals, Inc., for the ENDEAR, CHERISH, and CS2/ CS12 studies; from Biogen for CS11; and from Cytokinetics, Sarepta Pharmaceuticals, PTC Therapeutics, Fibrogen, and Summit.

Publisher Copyright:
© 2021 The Authors.

PubMed: MeSH publication types

  • Journal Article
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

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