Last modified: 2014-04-03
Abstract
Introduction: Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disease of X-linked recessive inheritance caused by a defect in the dystrophin gene. Sleep-disordered breathing is common in these children, being ten times more prevalent than general population. The objective of this study is to analyze the polysomnographic characteristics in children with DMD.
Methods: Cross-sectional study of 29 patients with DMD who underwent a polysomnography between 2005-2011.
Results: Total of 29 patients, mean age 9 years (2-18). 20/29(69%) with preserved ambulation, of these, 19 being treated with corticosteroids (18 prednisone, 1 deflazacort). 9/29(31%) had lost gait (mean age 13 years), of these, 7 receiving corticosteroids (6 prednisone, 1 deflazacort). 3/29 were users of non-invasive ventilation (NIV). 13/29(45 %) had reduced sleep onset latency, 14/29(48%) decreased sleep efficiency, 8/29(27%) with sleep fragmentation. 13/29(44%) with increased superficial sleep and 11/29(37%) decreased REM sleep. Respiratory disturbance index (RDI) was increased in 18/29(62%), 6/18 showed obstructive apneas and hypopneas, 11/18 central apneas and 2/18 a mixed pattern. Of the 9 patients in wheelchair, 3 had an increased RDI. 2/29 with PCO2>53 at the time of the exam. Snoring was present in 7/29(24%), of which two were associated with obstructive events. Mean baseline oxygen saturation was 97% and desaturation <90% present in 13/29(45%) patients.
Conclusions: The prevalence of sleep-disordered breathing in children with DMD is relevant. In this study the wheelchair-bound patients didn’t experience more respiratory events than patients who maintained ambulation. The number of patients receiving NIV was low.