Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy

Federica Trucco; Matthew Davies; Alberto Andrea Zambon; Deborah Ridout; Francois Abel; Francesco Muntoni

doi:10.1136/thorax-2023-220729

Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy

Thorax. 2024 May 9:thorax-2023-220729. doi: 10.1136/thorax-2023-220729. Online ahead of print.

Authors

Federica Trucco^{1

2

3}, Matthew Davies⁴, Alberto Andrea Zambon^{5

6}, Deborah Ridout⁷, Francois Abel⁴, Francesco Muntoni^{5

8}

Affiliations

¹ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK federica.trucco@unige.it.
² Paediatric Respiratory Department, Royal Brompton Hospital, Guy's and St Thomas' Trust, London, UK.
³ Paediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy.
⁴ Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London, UK.
⁵ Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK.
⁶ Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.
⁷ Population Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK.
⁸ NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.

PMID: 38729626
DOI: 10.1136/thorax-2023-220729

Abstract

Background: Diaphragmatic sleep disordered breathing (dSDB) has been recently identified as sleep dysfunction secondary to diaphragmatic weakness in Duchenne muscular dystrophy (DMD). However, scoring criteria for the identification of dSDB are missing.This study aimed to define and validate dSDB scoring criteria and to evaluate whether dSDB severity correlates with respiratory progression in DMD.

Methods: Scoring criteria for diaphragmatic apnoea (dA) and hypopnoeas (dH) have been defined by the authors considering the pattern observed on cardiorespiratory polygraphy (CR) and the dSDB pathophysiology.10 sleep professionals (physiologists, consultants) blinded to each other were involved in a two-round Delphi survey to rate each item of the proposed dSDB criteria (Likert scale 1-5) and to recognise dSDB among other SDB. The scorers' accuracy was tested against the authors' panel.Finally, CR previously conducted in DMD in clinical setting were rescored and diaphragmatic Apnoea-Hypopnoea Index (dAHI) was derived. Pulmonary function (forced vital capacity per cent of predicted, FVC%pred), overnight oxygen saturation (SpO2) and transcutaneous carbon dioxide (tcCO2) were correlated with dAHI.

Results: After the second round of Delphi, raters deemed each item of dA and dH criteria as relevant as 4 or 5. The agreement with the panel in recognising dSDB was 81%, kappa 0.71, sensitivity 77% and specificity 85%.32 CRs from DMD patients were reviewed. dSDB was previously scored as obstructive. The dAHI negatively correlated with FVC%pred (r=-0.4; p<0.05). The total number of dA correlated with mean overnight tcCO2 (r 0.4; p<0.05).

Conclusions: dSDB is a newly defined sleep disorder that correlates with DMD progression. A prospective study to evaluate dSDB as a respiratory measure for DMD in clinical and research settings is planned.

Keywords: Not Applicable.