{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T03:08:27Z","timestamp":1790737707464,"version":"4.1.0"},"reference-count":35,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Thorax"],"accepted":{"date-parts":[[2024,3,25]]},"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><jats:p>This study aimed to define and validate dSDB scoring criteria and to evaluate whether dSDB severity correlates with respiratory progression in DMD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><jats:p>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\u20135) and to recognise dSDB among other SDB. The scorers\u2019 accuracy was tested against the authors\u2019 panel.<\/jats:p><jats:p>Finally, CR previously conducted in DMD in clinical setting were rescored and diaphragmatic Apnoea\u2013Hypopnoea 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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%.<\/jats:p><jats:p>32 CRs from DMD patients were reviewed. dSDB was previously scored as obstructive. The dAHI negatively correlated with FVC%pred (r=\u22120.4; p&lt;0.05). The total number of dA correlated with mean overnight tcCO2 (r 0.4; p&lt;0.05).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec>","DOI":"10.1136\/thorax-2023-220729","type":"journal-article","created":{"date-parts":[[2024,5,10]],"date-time":"2024-05-10T05:35:17Z","timestamp":1715319317000},"page":"652-661","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":13,"title":["Definition of diaphragmatic sleep disordered breathing and clinical meaning in Duchenne muscular dystrophy"],"prefix":"10.1136","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1147-0126","authenticated-orcid":false,"given":"Federica","family":"Trucco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6539-5360","authenticated-orcid":false,"given":"Alberto Andrea","family":"Zambon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Ridout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Abel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,5,9]]},"reference":[{"key":"2025012402150633000_79.7.652.1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01430-8","article-title":"Global epidemiology of duchenne muscular dystrophy: an updated systematic review and meta-analysis","volume":"15","author":"Crisafulli","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2025012402150633000_79.7.652.2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-303902"},{"key":"2025012402150633000_79.7.652.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)32160-8"},{"key":"2025012402150633000_79.7.652.4","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000002891"},{"key":"2025012402150633000_79.7.652.5","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002337"},{"key":"2025012402150633000_79.7.652.6","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1164\/rccm.201703-0507WS","article-title":"Pulmonary endpoints in duchenne muscular dystrophy. 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