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

中文翻译：

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杜氏肌营养不良症膈肌睡眠呼吸障碍的定义及临床意义

背景 膈肌睡眠呼吸障碍 (dSDB) 最近被确定为杜氏肌营养不良症 (DMD) 继发于膈肌无力的睡眠功能障碍。然而，缺乏识别 dSDB 的评分标准。本研究旨在定义和验证 dSDB 评分标准，并评估 dSDB 严重程度是否与 DMD 呼吸进展相关。方法 考虑到心肺多图（CR）和 dSDB 病理生理学观察到的模式，作者定义了膈肌呼吸暂停（dA）和呼吸不足（dH）的评分标准。 10 名彼此不知情的睡眠专业人士（生理学家、顾问）参与了两轮 Delphi 调查，对拟议的 dSDB 标准（李克特量表 1-5）的每一项进行评分，并在其他 SDB 中识别 dSDB。评分者的准确性是根据作者小组进行测试的。最后，对之前在临床环境中在 DMD 中进行的 CR 进行了重新评分，并得出膈肌呼吸暂停低通气指数 (dAHI)。肺功能（用力肺活量占预测值的百分比，FVC%pred）、夜间氧饱和度 (SpO2) 和经皮二氧化碳 (tcCO2) 与 dAHI 相关。结果 经过第二轮德尔菲法后，评估者认为 dA 和 dH 标准的每一项相关性为 4 或 5。与专家组在识别 dSDB 方面的一致性为 81%，kappa 0.71，敏感性 77%，特异性 85%。对来自 DMD 患者的 32 例 CR 进行了审查。 dSDB 之前被评分为阻塞性。 dAHI 与 FVC%pred 负相关（r=-0.4；p<0.05）。 dA 总数与平均过夜 tcCO2 相关（r 0.4；p<0.05）。结论 dSDB 是一种新定义的睡眠障碍，与 DMD 进展相关。计划开展一项前瞻性研究，以评估 dSDB 在临床和研究环境中作为 DMD 呼吸测量的作用。与研究相关的所有数据都包含在文章中或作为在线补充信息上传。