Objective measurement of oral function in adults with spinal muscular atrophy
Abstract Background Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was...
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02688-4 |
| _version_ | 1797831922281349120 |
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| author | T. Kruse S. Shamai D. Leflerovà B. Wirth R. Heller N. Schloss H. C. Lehmann S. Brakemeier T. Hagenacker B. Braumann G. Wunderlich |
| author_facet | T. Kruse S. Shamai D. Leflerovà B. Wirth R. Heller N. Schloss H. C. Lehmann S. Brakemeier T. Hagenacker B. Braumann G. Wunderlich |
| author_sort | T. Kruse |
| collection | DOAJ |
| description | Abstract Background Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was to systematically evaluate the measurement of maximum bite force and endurance, maximum tongue pressure and endurance, as well as maximum mouth opening in adult individuals with SMA types 2 and 3. Methods Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlations among oral function measures themselves as well as with established clinical outcome scales were analyzed. Results The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals with a different number of SMN2 copies and with different walking abilities. The pairwise correlations of the absolute maximum measures of oral function were fair to moderate in size; the same was true for their correlations with the established motor scores. All correlations assessing endurance measures of oral function were weaker and statistically insignificant. Conclusions Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supplement existing motor scores, in particular concerning specific questions about bulbar function or in severely affected non-ambulatory individuals where mild (treatment-related) changes would otherwise remain undetected. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/search/de/trial/DRKS00015842 |
| first_indexed | 2024-04-09T14:00:36Z |
| format | Article |
| id | doaj.art-f769be16aba6402a9d9e336308e5e279 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-09T14:00:36Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-f769be16aba6402a9d9e336308e5e2792023-05-07T11:23:33ZengBMCOrphanet Journal of Rare Diseases1750-11722023-05-0118111110.1186/s13023-023-02688-4Objective measurement of oral function in adults with spinal muscular atrophyT. Kruse0S. Shamai1D. Leflerovà2B. Wirth3R. Heller4N. Schloss5H. C. Lehmann6S. Brakemeier7T. Hagenacker8B. Braumann9G. Wunderlich10Department 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 CologneCenter for Rare Diseases Cologne, University of CologneCenter for Rare Diseases Cologne, University of CologneDepartment of Neurology, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Neurology, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital EssenDepartment of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital EssenDepartment of Orthodontics, Faculty of Medicine and University Hospital Cologne, University of CologneCenter for Rare Diseases Cologne, University of CologneAbstract Background Impairment of bulbar function in adult individuals with spinal muscular atrophy (SMA) usually is not assessed by established motor scores. Measurements of oral function including quantitative muscle and endurance tests are able to detect subtle changes. The aim of this study was to systematically evaluate the measurement of maximum bite force and endurance, maximum tongue pressure and endurance, as well as maximum mouth opening in adult individuals with SMA types 2 and 3. Methods Data from oral function tests in 43 individuals were analyzed. Differences in oral function between individuals with different SMA types and numbers of SMN2 copies were tested. Spearman´s rho correlations among oral function measures themselves as well as with established clinical outcome scales were analyzed. Results The absolute maximum measures of oral function (maximum bite force, maximum tongue pressure, maximum mouth opening) were able to discriminate between individuals with different SMA types, individuals with a different number of SMN2 copies and with different walking abilities. The pairwise correlations of the absolute maximum measures of oral function were fair to moderate in size; the same was true for their correlations with the established motor scores. All correlations assessing endurance measures of oral function were weaker and statistically insignificant. Conclusions Among the oral function tests maximum tongue pressure and maximum mouth opening are particulary promising as clinical and sensitive outcome measures for clinical trials. Oral function tests may supplement existing motor scores, in particular concerning specific questions about bulbar function or in severely affected non-ambulatory individuals where mild (treatment-related) changes would otherwise remain undetected. Trial registration DRKS, DRKS00015842. Registered 30 July 2019, https://drks.de/search/de/trial/DRKS00015842https://doi.org/10.1186/s13023-023-02688-4Spinal muscular atrophyBulbar neuromuscular functionOutcome measuresBite forceTongue pressureFatigability |
| spellingShingle | T. Kruse S. Shamai D. Leflerovà B. Wirth R. Heller N. Schloss H. C. Lehmann S. Brakemeier T. Hagenacker B. Braumann G. Wunderlich Objective measurement of oral function in adults with spinal muscular atrophy Orphanet Journal of Rare Diseases Spinal muscular atrophy Bulbar neuromuscular function Outcome measures Bite force Tongue pressure Fatigability |
| title | Objective measurement of oral function in adults with spinal muscular atrophy |
| title_full | Objective measurement of oral function in adults with spinal muscular atrophy |
| title_fullStr | Objective measurement of oral function in adults with spinal muscular atrophy |
| title_full_unstemmed | Objective measurement of oral function in adults with spinal muscular atrophy |
| title_short | Objective measurement of oral function in adults with spinal muscular atrophy |
| title_sort | objective measurement of oral function in adults with spinal muscular atrophy |
| topic | Spinal muscular atrophy Bulbar neuromuscular function Outcome measures Bite force Tongue pressure Fatigability |
| url | https://doi.org/10.1186/s13023-023-02688-4 |
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