Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study
Abstract Background Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient’s quality of life, it is difficult to address therapeutically. Due to bulbar dysfunction, maximum mouth opening (MMO) is suspected to be reduced in...
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BMC
2025-01-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03524-z |
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| author | Jana Zang Deike Weiss Charlotte Dumitrascu Julia Glinzer Marie Wegner Anna Strube Jonas Denecke Almut Niessen Christina Pflug |
| author_facet | Jana Zang Deike Weiss Charlotte Dumitrascu Julia Glinzer Marie Wegner Anna Strube Jonas Denecke Almut Niessen Christina Pflug |
| author_sort | Jana Zang |
| collection | DOAJ |
| description | Abstract Background Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient’s quality of life, it is difficult to address therapeutically. Due to bulbar dysfunction, maximum mouth opening (MMO) is suspected to be reduced in children with SMA. However, no published MMO values exist for SMA children younger than 24 months. This study presents a novel approach to measuring MMO in infants and toddlers with SMA and compares it with healthy controls. Methods Children with SMA (0–24 months) who received disease-modifying therapy at a single neuropediatric center and similarly aged healthy children were prospectively recruited. MMO was measured using a cardboard scale and a custom-designed instrument. Results A total of 115 children were included (SMA = 24, healthy controls = 91). Inter-rater reliability between two examiners was excellent (ICC = 0.987, 95% CI 0.959 to 0.995), as was the reliability between the cardboard scale and the custom-designed instrument (ICC = 0.986, 95% CI 0.968 to 0.994). A mixed linear model showed a significant increase of MMO with age, and a significantly wider mouth opening in healthy controls (p < .001). Conclusion For future research, MMO can provide valuable information about the involvement of cranial nerves, particularly in the context of disease-modifying therapies, even at a very early age. |
| format | Article |
| id | doaj-art-59e3538577e849e98d7d3e138a91076c |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-59e3538577e849e98d7d3e138a91076c2025-01-19T12:38:26ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-012011910.1186/s13023-024-03524-zMaximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled studyJana Zang0Deike Weiss1Charlotte Dumitrascu2Julia Glinzer3Marie Wegner4Anna Strube5Jonas Denecke6Almut Niessen7Christina Pflug8Department of Voice, Speech and Hearing Disorders, University Dysphagia Center, University Medical Center Hamburg-EppendorfDepartment of Pediatrics, University Medical Center Hamburg-EppendorfDepartment of Voice, Speech and Hearing Disorders, University Dysphagia Center, University Medical Center Hamburg-EppendorfDepartment of Voice, Speech and Hearing Disorders, University Dysphagia Center, University Medical Center Hamburg-EppendorfInsitute of Product Development and Mechanical Engineering Design, Hamburg University of TechnologyInsitute of Product Development and Mechanical Engineering Design, Hamburg University of TechnologyDepartment of Pediatrics, University Medical Center Hamburg-EppendorfDepartment of Voice, Speech and Hearing Disorders, University Dysphagia Center, University Medical Center Hamburg-EppendorfDepartment of Voice, Speech and Hearing Disorders, University Dysphagia Center, University Medical Center Hamburg-EppendorfAbstract Background Bulbar function is frequently impaired in patients with spinal muscular atrophy (SMA). Although extremely important for the patient’s quality of life, it is difficult to address therapeutically. Due to bulbar dysfunction, maximum mouth opening (MMO) is suspected to be reduced in children with SMA. However, no published MMO values exist for SMA children younger than 24 months. This study presents a novel approach to measuring MMO in infants and toddlers with SMA and compares it with healthy controls. Methods Children with SMA (0–24 months) who received disease-modifying therapy at a single neuropediatric center and similarly aged healthy children were prospectively recruited. MMO was measured using a cardboard scale and a custom-designed instrument. Results A total of 115 children were included (SMA = 24, healthy controls = 91). Inter-rater reliability between two examiners was excellent (ICC = 0.987, 95% CI 0.959 to 0.995), as was the reliability between the cardboard scale and the custom-designed instrument (ICC = 0.986, 95% CI 0.968 to 0.994). A mixed linear model showed a significant increase of MMO with age, and a significantly wider mouth opening in healthy controls (p < .001). Conclusion For future research, MMO can provide valuable information about the involvement of cranial nerves, particularly in the context of disease-modifying therapies, even at a very early age.https://doi.org/10.1186/s13023-024-03524-zSpinal muscular atrophyJaw openingBulbar function |
| spellingShingle | Jana Zang Deike Weiss Charlotte Dumitrascu Julia Glinzer Marie Wegner Anna Strube Jonas Denecke Almut Niessen Christina Pflug Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study Orphanet Journal of Rare Diseases Spinal muscular atrophy Jaw opening Bulbar function |
| title | Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study |
| title_full | Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study |
| title_fullStr | Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study |
| title_full_unstemmed | Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study |
| title_short | Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study |
| title_sort | maximal mouth opening in infants and toddlers with spinal muscular atrophy a prospective controlled study |
| topic | Spinal muscular atrophy Jaw opening Bulbar function |
| url | https://doi.org/10.1186/s13023-024-03524-z |
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