Evalation of sleep related breathing in neuromuscular diseases

Respiratory failure in neuromuscular diseases is an important cause of morbidity and mortality. Advances in respiratory support technology has increased life expectancy and quality in children with neuromuscular disease. Respiratory problems are first observed during sleep. Although the clinical findings and pulmonary function tests are hepful to show abnormalities in breathing during sleep, polysomnography is the most important diagnostic tool. We compared, sleep-wake symptoms, clinical findings and pulmonary function tests with polysomnography, aiming to determine their role in predicting sleep related breathing disorders in patients with neuromuscular disorders. This cross-sectional study included 17 childs which was composed of 12 Duchenne muscular dystrophy patients, 1 Emery-Dreifuss muscular dystrophy patient , 1 congenital muscular dystrophy patient, 1 spinal muscular dystrophy patient and 2 Limb-Girdle muscular dystrophy patients, and 23 controls. Patients were evaluated particularly whether they have obesity or scoliosis which might lead to respiratory distress. Patients were questioned about night and daytime symptoms which caused by sleep related respiratory disorders. According to the history and clinical findings of patients their clinical severity and activity status was determined. Pulmonary function test was performed in all study group, but polysomnography was just performed in patient group. In Patients with Duchenne muscular dystrophy 50% had day and night symptoms, 40.8% was wheel-chair dependent and 58% had scoliosis. Obstructive sleep apnea (OSA), was defined as partial or complete upper airway obstruction during sleep with at least one of the findings of sleep interruption, hypoxemia, hypercapnia, or daytime symptoms. OSA frequency was 11.1% in all neuromuscular disease patients. When Duchenne muscular dystrophy patients were evaluated separately the frequency was 16.6%. Although wheelchair dependency, scoliosis, and rate of sleep related symptoms was high, no significant relation between them and sleep related breathing disorders was detected. Consequently, polisomnogram is the gold standard in detecting sleep related respiratory disorders in patients with neuromuscular diseases. Although scoliosis and wheelchair dependency are helpful clinical predictors of sleep related respiratory disorders, such patients should be followed up with polisomnogram. Likewise, sleep-wakesymptoms of these patients should be carefully questioned and in patients with symptoms a detailed examination should be made.