Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study
Abstract Background Progressive lung function decline, resulting in respiratory failure, is an important complication of spinal muscular atrophy (SMA). The ability to predict the need for mechanical ventilation is important. We assessed longitudinal patterns of lung function prior to chronic respira...
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02634-4 |
| _version_ | 1797863524792270848 |
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| author | Esther S. Veldhoen Camiel A. Wijngaarde Ruben P. A. van Eijk Fay-Lynn Asselman Negina Seddiqi Louise A. M. Otto Marloes Stam Inge Cuppen Renske I. Wadman Roelie M. Wösten van Asperen Erik H. J. Hulzebos Laura P. Verweij van den Oudenrijn Bart Bartels Jasmijn Boezer M. Gaytant Cornelis K. van der Ent W. Ludo van der Pol |
| author_facet | Esther S. Veldhoen Camiel A. Wijngaarde Ruben P. A. van Eijk Fay-Lynn Asselman Negina Seddiqi Louise A. M. Otto Marloes Stam Inge Cuppen Renske I. Wadman Roelie M. Wösten van Asperen Erik H. J. Hulzebos Laura P. Verweij van den Oudenrijn Bart Bartels Jasmijn Boezer M. Gaytant Cornelis K. van der Ent W. Ludo van der Pol |
| author_sort | Esther S. Veldhoen |
| collection | DOAJ |
| description | Abstract Background Progressive lung function decline, resulting in respiratory failure, is an important complication of spinal muscular atrophy (SMA). The ability to predict the need for mechanical ventilation is important. We assessed longitudinal patterns of lung function prior to chronic respiratory failure in a national cohort of treatment-naïve children and adults with SMA, hypothesizing an accelerated decline prior to chronic respiratory failure. Methods We included treatment-naïve SMA patients participating in a prospective national cohort study if they required mechanical ventilation because of chronic respiratory failure and if lung function test results were available from the years prior to initiation of ventilation. We analyzed Forced Vital Capacity (FVC), Forced Expiratory Volume in 1 s (FEV1), Peak Expiratory Flow (PEF) and Maximum Expiratory Pressure (PEmax). We studied the longitudinal course using linear mixed-effects models. We compared patients who electively started mechanical ventilation compared to patients who could not be weaned after acute respiratory failure. Results We analyzed 385 lung function tests from 38 patients with SMA types 1c–3a. At initiation of ventilation median age was 18.8 years (IQR: 13.2–30.1) and median standardized FVC, FEV1 and PEF were 28.8% (95% CI: 23.5; 34.2), 28.8% (95% CI: 24.0; 33.7) and 30.0% (95% CI: 23.4; 36.7), with an average annual decline of 1.75% (95% CI: 0.86; 2.66), 1.72% (95% CI: 1.04; 2.40) and 1.65% (95% CI: 0.71; 2.59), respectively. Our data did not support the hypothesis of an accelerated decline prior to initiation of mechanical ventilation. Median PEmax was 35.3 cmH2O (95% CI: 29.4; 41.2) at initiation of mechanical ventilation and relatively stable in the years preceding ventilation. Median FVC, FEV1, PEF and PEmax were lower in patients who electively started mechanical ventilation (p < 0.001). Conclusions Patterns of lung function decline cannot predict impending respiratory failure: SMA is characterized by a gradual decline of lung function. We found no evidence for an accelerated deterioration. In addition, PEmax remains low and stable in the years preceding initiation of ventilation. Patients who electively started mechanical ventilation had more restrictive lung function at initiation of ventilation, compared to patients who could not be weaned after surgery or a respiratory tract infection. |
| first_indexed | 2024-04-09T22:37:56Z |
| format | Article |
| id | doaj.art-28db6b5241394763846f3233ab257034 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-09T22:37:56Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-28db6b5241394763846f3233ab2570342023-03-22T12:21:54ZengBMCOrphanet Journal of Rare Diseases1750-11722023-02-0118111010.1186/s13023-023-02634-4Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort studyEsther S. Veldhoen0Camiel A. Wijngaarde1Ruben P. A. van Eijk2Fay-Lynn Asselman3Negina Seddiqi4Louise A. M. Otto5Marloes Stam6Inge Cuppen7Renske I. Wadman8Roelie M. Wösten van Asperen9Erik H. J. Hulzebos10Laura P. Verweij van den Oudenrijn11Bart Bartels12Jasmijn Boezer13M. Gaytant14Cornelis K. van der Ent15W. Ludo van der Pol16Department of Pediatric Intensive Care, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Pediatric Intensive Care, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityDepartment of Pediatric Intensive Care, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityChild Development and Exercise Center, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityDepartment of Pediatric Intensive Care, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityChild Development and Exercise Center, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityDepartment of Pediatric Intensive Care, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityCenter of Home Mechanical Ventilation, Department of Pulmonology, University Medical Center Utrecht, Utrecht UniversityDepartment of Pediatric Pulmonology, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht UniversityDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht UniversityAbstract Background Progressive lung function decline, resulting in respiratory failure, is an important complication of spinal muscular atrophy (SMA). The ability to predict the need for mechanical ventilation is important. We assessed longitudinal patterns of lung function prior to chronic respiratory failure in a national cohort of treatment-naïve children and adults with SMA, hypothesizing an accelerated decline prior to chronic respiratory failure. Methods We included treatment-naïve SMA patients participating in a prospective national cohort study if they required mechanical ventilation because of chronic respiratory failure and if lung function test results were available from the years prior to initiation of ventilation. We analyzed Forced Vital Capacity (FVC), Forced Expiratory Volume in 1 s (FEV1), Peak Expiratory Flow (PEF) and Maximum Expiratory Pressure (PEmax). We studied the longitudinal course using linear mixed-effects models. We compared patients who electively started mechanical ventilation compared to patients who could not be weaned after acute respiratory failure. Results We analyzed 385 lung function tests from 38 patients with SMA types 1c–3a. At initiation of ventilation median age was 18.8 years (IQR: 13.2–30.1) and median standardized FVC, FEV1 and PEF were 28.8% (95% CI: 23.5; 34.2), 28.8% (95% CI: 24.0; 33.7) and 30.0% (95% CI: 23.4; 36.7), with an average annual decline of 1.75% (95% CI: 0.86; 2.66), 1.72% (95% CI: 1.04; 2.40) and 1.65% (95% CI: 0.71; 2.59), respectively. Our data did not support the hypothesis of an accelerated decline prior to initiation of mechanical ventilation. Median PEmax was 35.3 cmH2O (95% CI: 29.4; 41.2) at initiation of mechanical ventilation and relatively stable in the years preceding ventilation. Median FVC, FEV1, PEF and PEmax were lower in patients who electively started mechanical ventilation (p < 0.001). Conclusions Patterns of lung function decline cannot predict impending respiratory failure: SMA is characterized by a gradual decline of lung function. We found no evidence for an accelerated deterioration. In addition, PEmax remains low and stable in the years preceding initiation of ventilation. Patients who electively started mechanical ventilation had more restrictive lung function at initiation of ventilation, compared to patients who could not be weaned after surgery or a respiratory tract infection.https://doi.org/10.1186/s13023-023-02634-4Lung functionNatural historyNeuromuscularRespiratory failureSpinal muscular atrophy |
| spellingShingle | Esther S. Veldhoen Camiel A. Wijngaarde Ruben P. A. van Eijk Fay-Lynn Asselman Negina Seddiqi Louise A. M. Otto Marloes Stam Inge Cuppen Renske I. Wadman Roelie M. Wösten van Asperen Erik H. J. Hulzebos Laura P. Verweij van den Oudenrijn Bart Bartels Jasmijn Boezer M. Gaytant Cornelis K. van der Ent W. Ludo van der Pol Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study Orphanet Journal of Rare Diseases Lung function Natural history Neuromuscular Respiratory failure Spinal muscular atrophy |
| title | Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study |
| title_full | Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study |
| title_fullStr | Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study |
| title_full_unstemmed | Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study |
| title_short | Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study |
| title_sort | lung function decline preceding chronic respiratory failure in spinal muscular atrophy a national prospective cohort study |
| topic | Lung function Natural history Neuromuscular Respiratory failure Spinal muscular atrophy |
| url | https://doi.org/10.1186/s13023-023-02634-4 |
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