ABSTRACT

Objective:

Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder in which respiratory problems arise secondary to the involvement of skeletal muscles. Spinal muscular atrophy (SMA) is a disorder group characterized by the involvement of anterior horn cells. The most common respiratory problems in DMD and SMA patients are pharyngeal muscle weakness in sleep and sleep-related respiratory disorders. In this study, we evaluated sleep structure and sleep-related disorders in pediatric age group diagnosed with DMD and SMA.

Materials and Methods:

In pediatric patients who were diagnosed to have DMD or SMA upon genetic analysis between 2014 and 2018 were performed polysomnographic investigations in our Sleep and Disorder Units.

Results:

Age (p=0.074), gender (p=0.065) or Body Mass index (p=0.473) were compatible between the three groups, including 13 DMD patients, seven SMA patients, and six healthy control children. In DMD patients, although rapid eye movement (REM) sleep phase latency was longer and REM sleep phase duration was shorter compared to both healthy controls and SMA patients; it was not statistically significant. In SMA patients, total sleep time and deep non-REM (NREM) sleep duration were shorter than both healthy controls and DMD patients; though this difference was not statistically significant. Pediatric Obstructive Sleep Apnea syndrome (OSAS) was detected in three DMD patients (23.1%) and six SMA patients (85.7%), no pediatric OSAS was detected in the control group (p=0.010). Mean Apnea-hypopnea index was 2.15+4.60/ hr in DMD patients, 7.43+6.19/hr in SMA patients and 0.33+0.52/hr in control group (p=0.018).

Conclusion:

In our study, it was found that sleep structure is disturbed and pediatric OSAS is more commonly encountered in DMD and SMA patient groups, which two disorders causing muscle and respiratory problems due to muscular and neurogenic involvement.

Keywords: Duchenne muscular dystrophy, spinal muscular atrophy, sleep, sleep-related disorders, pediatric Obstructive Sleep Apnea syndrome

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Evaluation of Sleep Structure and Sleep-related Disorders in Pediatric Patients Diagnosed with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy

ABSTRACT

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