Retrospective analysis of sleep-disordered breathing in pediatric neuromuscular disease

Objective: Sleep-disordered breathing (SDB) is a prevalent concern in individuals with neuromuscular diseases (NMD), significantly impacting respiratory function and sleep quality. This study aimed to retrospectively evaluate the demographic, clinical, and baseline polysomnographic data of children with NMD to investigate the guiding effect of the Pediatric Sleep Questionnaire (PSQ) and the modified Epworth Sleepiness Scale (ESS-CHAD) in detecting SDB. Method: A retrospective analysis was conducted on children aged 2-18 years with NMD who underwent polysomnography (PSG) between January 2012 and January 2024. The study assessed various clinical parameters, including age, gender, BMI, underlying disease, PSG results, the PSQ and ESS-CHAD scores, and treatment methods. Statistical analyses were conducted to compare those with and without obstructive sleep apnea syndrome (OSAS). Results: Of the 174 patients included in the study, 90 patients (51.7%) had normal PSG, 56 patients (32.2%) had mild (OSAS), 12 patients (6.9%) had moderate OSAS, and 16 patients (9.2%) had severe OSAS. PSQ and ESS-CHAD were not significantly different between patients with and without OSAS (p>0.05). The most common treatment initiated was noninvasive ventilation (NIV), recommended for 23% of patients. Conclusion: PSG is the gold standard for diagnosing SDB in children with NMD. While PSQ and ESS-CHAD may be useful for screening in the general pediatric population, they are inadequate in identifying OSAS in children with NMD. Early diagnosis and treatment of SDB are crucial for improving outcomes in this patient group.