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Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

BACKGROUND: Novel Spinal Muscular Atrophy (SMA) treatments have demonstrated improvements on motor measures that are clearly distinct from the natural history of progressive decline. Comparable measures are needed to monitor bulbar function, which is affected in severe SMA. OBJECTIVE: To assess bulb...

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Autores principales: Dunaway Young, Sally, Pasternak, Amy, Duong, Tina, McGrattan, Katlyn E., Stranberg, Sarah, Maczek, Elizabeth, Dias, Courtney, Tang, Whitney, Parker, Dana, Levine, Alexis, Rohan, Alyssa, Wolford, Connie, Martens, William, McDermott, Michael P., Darras, Basil T., Day, John W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258884/
https://www.ncbi.nlm.nih.gov/pubmed/36776075
http://dx.doi.org/10.3233/JND-221573
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author Dunaway Young, Sally
Pasternak, Amy
Duong, Tina
McGrattan, Katlyn E.
Stranberg, Sarah
Maczek, Elizabeth
Dias, Courtney
Tang, Whitney
Parker, Dana
Levine, Alexis
Rohan, Alyssa
Wolford, Connie
Martens, William
McDermott, Michael P.
Darras, Basil T.
Day, John W.
author_facet Dunaway Young, Sally
Pasternak, Amy
Duong, Tina
McGrattan, Katlyn E.
Stranberg, Sarah
Maczek, Elizabeth
Dias, Courtney
Tang, Whitney
Parker, Dana
Levine, Alexis
Rohan, Alyssa
Wolford, Connie
Martens, William
McDermott, Michael P.
Darras, Basil T.
Day, John W.
author_sort Dunaway Young, Sally
collection PubMed
description BACKGROUND: Novel Spinal Muscular Atrophy (SMA) treatments have demonstrated improvements on motor measures that are clearly distinct from the natural history of progressive decline. Comparable measures are needed to monitor bulbar function, which is affected in severe SMA. OBJECTIVE: To assess bulbar function with patient-reported outcome measures (PROs) and determine their relationships with clinical characteristics. METHODS: We recruited 47 non-ambulatory participants (mean (SD) age = 29.8 (13.7) years, range = 10.3–73.2) with SMA. PROs including Voice Handicap Index (VHI) and Eating Assessment Tool-10 (EAT-10) were collected alongside clinical characteristics and standardized motor assessments. Associations were assessed using Spearman correlation coefficients and group comparisons were performed using Wilcoxon rank sum tests. RESULTS: A majority of the 47 participants were SMA type 2 (70.2%), non-sitters (78.7%), 3 copies of SMN2 (77.5%), and using respiratory support (66.0%). A majority (94%) reported voice issues primarily in 8/30 VHI questions. Problems included: difficulty understanding me in a noisy room (87.2%); difficult for people to hear me (74.5%); and people ask me to repeat when speaking face-to-face (72.3%). A majority (85.1%) reported swallowing issues primarily in 3/10 EAT-10 questions: swallowing pills (68.1%); food sticks to my throat (66.0%); and swallowing solids (61.7%). The two PROs were moderately associated (r(s) = 0.66). CONCLUSIONS: Weaker individuals with SMA experience bulbar problems including difficulties with voice and swallowing. Further refinement and assessment of functional bulbar scales will help determine their relevance and responsiveness to changes in SMA. Additional study is needed to quantify bulbar changes caused by SMA and their response to disease-modifying treatments.
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spelling pubmed-102588842023-06-13 Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes Dunaway Young, Sally Pasternak, Amy Duong, Tina McGrattan, Katlyn E. Stranberg, Sarah Maczek, Elizabeth Dias, Courtney Tang, Whitney Parker, Dana Levine, Alexis Rohan, Alyssa Wolford, Connie Martens, William McDermott, Michael P. Darras, Basil T. Day, John W. J Neuromuscul Dis Research Report BACKGROUND: Novel Spinal Muscular Atrophy (SMA) treatments have demonstrated improvements on motor measures that are clearly distinct from the natural history of progressive decline. Comparable measures are needed to monitor bulbar function, which is affected in severe SMA. OBJECTIVE: To assess bulbar function with patient-reported outcome measures (PROs) and determine their relationships with clinical characteristics. METHODS: We recruited 47 non-ambulatory participants (mean (SD) age = 29.8 (13.7) years, range = 10.3–73.2) with SMA. PROs including Voice Handicap Index (VHI) and Eating Assessment Tool-10 (EAT-10) were collected alongside clinical characteristics and standardized motor assessments. Associations were assessed using Spearman correlation coefficients and group comparisons were performed using Wilcoxon rank sum tests. RESULTS: A majority of the 47 participants were SMA type 2 (70.2%), non-sitters (78.7%), 3 copies of SMN2 (77.5%), and using respiratory support (66.0%). A majority (94%) reported voice issues primarily in 8/30 VHI questions. Problems included: difficulty understanding me in a noisy room (87.2%); difficult for people to hear me (74.5%); and people ask me to repeat when speaking face-to-face (72.3%). A majority (85.1%) reported swallowing issues primarily in 3/10 EAT-10 questions: swallowing pills (68.1%); food sticks to my throat (66.0%); and swallowing solids (61.7%). The two PROs were moderately associated (r(s) = 0.66). CONCLUSIONS: Weaker individuals with SMA experience bulbar problems including difficulties with voice and swallowing. Further refinement and assessment of functional bulbar scales will help determine their relevance and responsiveness to changes in SMA. Additional study is needed to quantify bulbar changes caused by SMA and their response to disease-modifying treatments. IOS Press 2023-03-07 /pmc/articles/PMC10258884/ /pubmed/36776075 http://dx.doi.org/10.3233/JND-221573 Text en © 2023 – The authors. Published by IOS Press https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution Non-Commercial (CC BY-NC 4.0) License (https://creativecommons.org/licenses/by-nc/4.0/) , which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Report
Dunaway Young, Sally
Pasternak, Amy
Duong, Tina
McGrattan, Katlyn E.
Stranberg, Sarah
Maczek, Elizabeth
Dias, Courtney
Tang, Whitney
Parker, Dana
Levine, Alexis
Rohan, Alyssa
Wolford, Connie
Martens, William
McDermott, Michael P.
Darras, Basil T.
Day, John W.
Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
title Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
title_full Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
title_fullStr Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
title_full_unstemmed Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
title_short Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes
title_sort assessing bulbar function in spinal muscular atrophy using patient-reported outcomes
topic Research Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258884/
https://www.ncbi.nlm.nih.gov/pubmed/36776075
http://dx.doi.org/10.3233/JND-221573
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