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Original research
Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy
  1. Federica Trucco1,2,3,
  2. Matthew Davies4,
  3. Alberto Andrea Zambon1,5,
  4. Deborah Ridout6,
  5. Francois Abel4,
  6. Francesco Muntoni1,7
  1. 1Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, UK
  2. 2Paediatric Respiratory Department, Royal Brompton Hospital, Guy’s and St Thomas’ Trust, London, UK
  3. 3Paediatric 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. 4Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children, London, UK
  5. 5Neuromuscular Repair Unit, Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy
  6. 6Population Policy and Practice Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, London, UK
  7. 7NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK
  1. Correspondence to Dr Federica Trucco, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy, Paediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy, Genova, Italy; federica.trucco{at}


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.

  • Not Applicable

Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as online supplemental information.

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  • FA and FM are joint senior authors.

  • Contributors FT, MD, AAZ, DR, FM and FA designed and conceptualised the study; FT, AAZ and MD had major role in the acquisition of data. FT interpreted the data; drafted the manuscript; revised the manuscript for intellectual content and is responsible as the guarantor. MD, AAZ, DR, FM and FA interpreted the data; revised the manuscript for intellectual content.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests FT reports participation to Scientific Advisory boards for Roche UK and teaching initiatives for Biogen UK, Avexis UK, Roche UK and Italy, Breas UK. MD, DR, AAZ and FA report no disclosures. FM reports participation in Scientific Advisory boards and teaching initiatives for Biogen, Roche and Novartis. He is a member of the Rare Disease Scientific Advisory Board for Pfizer. He is involved as an investigator in clinical trials from Novartis, Biogen and Roche. In addition, he is the principal investigator of the SMA REACH UK clinical network, partially funded by Biogen.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.