Evaluation of Sleep-Disordered Breathing and Respiratory Dysfunction in Children with Myotonic Dystrophy Type 1-A Retrospective Cross-Sectional Study

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.

Keywords: myotonic dystrophy type 1; noninvasive ventilation; sleep study; sleep-disordered breathing; transcutaneous capnometry.

Figure 1

There was a strong positive correlation between the apnea–hypopnea index and oxygen desaturation index.

Figure 2

Children with MRI findings of reduced brain volume had significantly higher ODI (mean 12.51; SD 6.88) compared to those without MRI brain volume abnormalities (mean 2.22; SD 2.34).

Figure 3

Correlation between the PtcCO₂ and polygraphic parameters (AHI and ODI): (a) there was no significant correlation between the PtcCO₂ and AHI (p = 0.447); (b) there was a positive correlation between the PtcCO₂ and ODI (p = 0.014).