Assessment of sleep-related breathing disorders in patients with duchenne muscular dystrophy

Respiratory failure is a significant cause of morbidity and mortality in neuromuscular diseases. Although clinical findings and respiratory function tests aid in diagnosing sleep-related breathing disorders, polysomnography is the gold standard for the diagnosis of these disorders. We aimed to investigate the role of sleep-wake symptoms and clinical findings of patients with Duchenne muscular dystrophy (DMD) in predicting sleep-related breathing disorders through the comparison of polysomnography findings. In addition, we evaluated the sleep architecture of our patients.

A total of 35 children (12 patients with DMD and 23 controls) were included in this cross-sectional study. Activity status and clinical severity of the patients were determined by history and clinical findings such as scoliosis, obesity. All subjects were hospitalized for one night in the Sleep Unit and their polysomnography examinations were performed. Sleep, breathing, arousals and limb movements were scored manually according to the American Sleep Disorders Association criteria.

Nocturnal and daytime symptoms were present in 50% of patients with DMD, 40.8% were wheelchair-bound and 58% had scoliosis. Obstructive sleep apnea was noted in 16.6% of patients with DMD. The apnea-hypopnea index, leg movement index were significantly higher in the DMD group as compared to the control group (P < 0.05). The number of desaturations, total arousal index and the percentage of total superficial sleep were significantly higher in patients with wheelchair, scoliosis, sleep-wake symptoms.

Being wheelchair-bound or having scoliosis do not predict sleep-related breathing disorders, so patients with DMD should be followed-up via polysomnography. Sleep-wake symptoms should be carefully questioned in these patients and symptomatic patients should be referred to pediatric respiratory units.