Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach

Abstract Background Oral function tests have been shown to reliably detect impaired bulbar function in adults with spinal muscular atrophy (SMA). Although not routinely recorded, it is known that persons with SMA are affected to varying degrees. Detecting differences in bite and tongue force, endura...

Full description

Saved in:
Bibliographic Details
Main Authors: Teresa Kruse, Diana Leflerovà, Annette Cap, Sara Portegys, Brunhilde Wirth, Raoul Heller, Svenja Brakemeier, Tim Hagenacker, Bert Braumann, Gilbert Wunderlich
Format: Article
Language:English
Published: BMC 2024-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-024-03405-5
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850181855788138496
author Teresa Kruse
Diana Leflerovà
Annette Cap
Sara Portegys
Brunhilde Wirth
Raoul Heller
Svenja Brakemeier
Tim Hagenacker
Bert Braumann
Gilbert Wunderlich
author_facet Teresa Kruse
Diana Leflerovà
Annette Cap
Sara Portegys
Brunhilde Wirth
Raoul Heller
Svenja Brakemeier
Tim Hagenacker
Bert Braumann
Gilbert Wunderlich
author_sort Teresa Kruse
collection DOAJ
description Abstract Background Oral function tests have been shown to reliably detect impaired bulbar function in adults with spinal muscular atrophy (SMA). Although not routinely recorded, it is known that persons with SMA are affected to varying degrees. Detecting differences in bite and tongue force, endurance, and maximum mouth opening has become particularly promising since the introduction of causal therapy for SMA. This study aimed to compare oral function among adult persons with SMA with different SMA types, walking abilities, and treatment status to a healthy control group. Methods Data from oral function tests conducted on 58 persons with SMA and 45 healthy individuals were analyzed. Differences in oral function between SMA subgroups were pairwise tested and compared to the healthy control group using Wilcoxon rank sum tests. Results In an overall comparison, three out of five oral function tests revealed lower values for the SMA group compared to the control group. Subgroup analyses indicated lower scores for most oral function tests in non-ambulatory, untreated patients with SMA type 2 compared to controls. Ambulatory, treated patients with SMA type 3 achieved strength and endurance values comparable to those of healthy individuals. Conclusions The impairment of oral function varies across persons with SMA. Routine measurement of oral function is warranted to determine individual bulbar involvement stages. Further evaluation should be scheduled if indicators such as restricted maximum mouth opening arise. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/register/de/trial/DRKS00015842/preview .
format Article
id doaj-art-0c1f50b5ca4e4349a1a7637cf38d9de1
institution OA Journals
issn 1750-1172
language English
publishDate 2024-10-01
publisher BMC
record_format Article
series Orphanet Journal of Rare Diseases
spelling doaj-art-0c1f50b5ca4e4349a1a7637cf38d9de12025-08-20T02:17:48ZengBMCOrphanet Journal of Rare Diseases1750-11722024-10-0119111310.1186/s13023-024-03405-5Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approachTeresa Kruse0Diana Leflerovà1Annette Cap2Sara Portegys3Brunhilde Wirth4Raoul Heller5Svenja Brakemeier6Tim Hagenacker7Bert Braumann8Gilbert Wunderlich9Department of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital EssenDepartment of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital EssenDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneAbstract Background Oral function tests have been shown to reliably detect impaired bulbar function in adults with spinal muscular atrophy (SMA). Although not routinely recorded, it is known that persons with SMA are affected to varying degrees. Detecting differences in bite and tongue force, endurance, and maximum mouth opening has become particularly promising since the introduction of causal therapy for SMA. This study aimed to compare oral function among adult persons with SMA with different SMA types, walking abilities, and treatment status to a healthy control group. Methods Data from oral function tests conducted on 58 persons with SMA and 45 healthy individuals were analyzed. Differences in oral function between SMA subgroups were pairwise tested and compared to the healthy control group using Wilcoxon rank sum tests. Results In an overall comparison, three out of five oral function tests revealed lower values for the SMA group compared to the control group. Subgroup analyses indicated lower scores for most oral function tests in non-ambulatory, untreated patients with SMA type 2 compared to controls. Ambulatory, treated patients with SMA type 3 achieved strength and endurance values comparable to those of healthy individuals. Conclusions The impairment of oral function varies across persons with SMA. Routine measurement of oral function is warranted to determine individual bulbar involvement stages. Further evaluation should be scheduled if indicators such as restricted maximum mouth opening arise. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/register/de/trial/DRKS00015842/preview .https://doi.org/10.1186/s13023-024-03405-5Spinal muscular atrophyBulbar neuromuscular functionOutcome measuresBite forceTongue pressureEndurance
spellingShingle Teresa Kruse
Diana Leflerovà
Annette Cap
Sara Portegys
Brunhilde Wirth
Raoul Heller
Svenja Brakemeier
Tim Hagenacker
Bert Braumann
Gilbert Wunderlich
Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach
Orphanet Journal of Rare Diseases
Spinal muscular atrophy
Bulbar neuromuscular function
Outcome measures
Bite force
Tongue pressure
Endurance
title Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach
title_full Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach
title_fullStr Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach
title_full_unstemmed Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach
title_short Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach
title_sort oral functions in adult persons with spinal muscular atrophy compared to a healthy control group a prospective cross sectional study with a multimodal approach
topic Spinal muscular atrophy
Bulbar neuromuscular function
Outcome measures
Bite force
Tongue pressure
Endurance
url https://doi.org/10.1186/s13023-024-03405-5
work_keys_str_mv AT teresakruse oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT dianaleflerova oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT annettecap oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT saraportegys oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT brunhildewirth oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT raoulheller oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT svenjabrakemeier oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT timhagenacker oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT bertbraumann oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach
AT gilbertwunderlich oralfunctionsinadultpersonswithspinalmuscularatrophycomparedtoahealthycontrolgroupaprospectivecrosssectionalstudywithamultimodalapproach