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Evaluation of Sleep-Disordered Breathing and Respiratory Dysfunction in Children with Myotonic Dystrophy Type 1-A
Mihail Basa1, Jovan Pesovic2, Dusanka Savic-Pavicevic2
1Department of Pulmology, Mother and Child Health Care Institute of Serbia "Dr. Vukan Cupic", 11070 Belgrade, Serbia.
Insights
Children with myotonic dystrophy type 1 (DM1) often have sleep-disordered breathing (SDB). CTG expansion size impacts respiratory issues. Comprehensive SDB screening is vital for early intervention in DM1 patients.
Area of Science:
- Pediatric Pulmonology
- Neuromuscular Disorders
- Sleep Medicine
Background:
- Myotonic dystrophy type 1 (DM1) is a rare genetic disorder affecting muscles.
- Respiratory dysfunction is a significant complication in DM1, impacting quality of life and survival.
- Sleep-disordered breathing (SDB) is a common but often underdiagnosed issue in pediatric DM1.
Purpose of the Study:
- To investigate pulmonary function test (PFT) outcomes in children with DM1.
- To evaluate sleep-disordered breathing (SDB) workups in pediatric DM1 patients.
- To identify factors associated with SDB development in this population.
Main Methods:
- Retrospective analysis of medical records, including genetic data and clinical characteristics.
- Utilized noninvasive pulmonary function testing (PFT), Pediatric Sleep Questionnaire (PSQ), arterial blood gases, polygraphy, and transcutaneous capnometry (PtcCO2).
- Assessed for obstructive sleep apnea syndrome (OSAS) and hypoventilation during sleep studies.
Main Results:
- CTG expansion size in the DMPK gene correlated with respiratory severity and tracheostomy need.
- Moderate/severe OSAS and hypoventilation were found in 31% of evaluated children.
- Oxygen desaturation index correlated with PtcCO2, but AHI did not correlate with SDB symptoms or PSQ scores.
Conclusions:
- SDB symptoms may not reliably indicate respiratory events or gas exchange issues in pediatric DM1.
- Comprehensive SDB screening is recommended for all children with DM1.
- Standardized PFT and sleep monitoring protocols are needed for timely, personalized DM1 management.
Abstract:
Background/Objectives: Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disorder characterized by respiratory dysfunction that significantly impacts quality of life and longevity. This study aimed to explore the outcomes of pulmonary function tests and sleep-disordered breathing (SDB) workups in children with DM1 and to identify the factors contributing to SDB. Methods: A retrospective study examined patients' medical records, including genetic analyses, clinical characteristics, and noninvasive pulmonary function testing (PFT), when possible. The Pediatric Sleep Questionnaire (PSQ), arterial blood gases, polygraphy, and overnight transcutaneous capnometry (PtcCO2) were used to assess SDB. Results: The size of CTG expansion in the DMPK gene directly correlated with the severity of respiratory complications and the need for early tracheostomy tube insertion in 7/20 (35%) patients. A total of 13/20 (65%) children were available for respiratory evaluation during spontaneous breathing. While moderate/severe obstructive sleep apnea syndrome (OSAS) and hypoventilation were confirmed in 4/13 (31%) children, none of the patients had mixed or dominantly central sleep apnea syndrome. There was no correlation between apnea-hypopnea index (AHI) or PtcCO2 and the presence of SDB-related symptoms or the PSQ score. Although a significant correlation between AHI and PtcCO2 was not confirmed (p = 0.447), the oxygen desaturation index directly correlated with PtcCO2 (p = 0.014). Conclusions: While SDB symptoms in children with DM1 may not fully correlate with observed respiratory events or impaired gas exchange during sleep, a comprehensive screening for SDB should be considered for all patients with DM1. Further research into disease-specific recommendations encompassing the standardization of PFT, as well as overnight polygraphic and capnometry recordings, could help to guide timely, personalized treatment.
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