“Duchenne Muscular Dystrophy (DMD) is characterized by progressive weakening of skeletal, respiratory and cardiac muscles. Respiratory deterioration, along with heart failure and arrhythmias, is the primary cause of morbidity and mortality in DMD.
The decline of respiratory function primarily leads to Sleep-Disordered Breathing (SDB), which may manifest mainly as Obstructive Sleep Apnea (OSA), or with alterations of nocturnal gas exchange leading to Nocturnal Hypoventilation (NH). These disorders initially affect REM sleep, due to diaphragm dependence and association with maximal hypotonia of the upper airway. In young patients daytime symptoms of these disorders may be mild or not perceived.
According to the literature, it is necessary to identify disease-specific outcome measures useful to assess the progression of respiratory function in DMD and to predict in advance an high risk of progression toward SDB.
The aim of this study is to retrospectively analyze the prevalence and features of SDB, assessed through cardiorespiratory polysomnography, in a cohort of about 25 pediatric patients referred to our neurological center. Furthermore we want to evaluate the relationship between sleep abnormalities and both respiratory and motor function. We consider also the influence of anthropometric parameters.
Enhancing the role of sleep in disease progression would be useful in order to deeply understand the early manifestations of respiratory sleep disorders, and to apply the right timing of follow up and intervention.”