A retrospective chart review study was performed to determine the presence of sleep disordered breathing (SDB) in children with primary mitochondrial disease (MD). The symptoms, sleep-related breathing, and movement abnormalities are described for 18 subjects (ages 1.5 to 18 years, 61% male) with MD who underwent polysomnography in our pediatric sleep center from 2007 to 2012. Of the 18 subjects with MD, the common indications for polysomnography were excessive somnolence or fatigue (61%, = 11), snoring (44%, = 8), and sleep movement complaints (17%, = 3). Polysomnographic measurements showed SDB in 56% ( = 10) (obstructive sleep apnea in 60% ( = 6), hypoxemia in 40% ( = 4), and sleep hypoventilation in 20% ( = 2)). There was a significant association between decreased muscle tone and SDB (: 0.043) as well as obese and overweight status with SDB (). SDB is common in subjects with MD. Early detection of SDB, utilizing polysomnography, should be considered to assist in identification of MD patients who may benefit from sleep-related interventions. 1. Introduction SDB is characterized by recurrent, partial, or complete cessation in breathing that disrupts normal sleep. SDB represents a spectrum of disorders that vary from simple snoring to complete upper airway closure as seen in obstructive sleep apnea (OSA) syndrome. SDB may also include central sleep apnea (CSA), prolonged hypoxemia, and hypoventilation. The prevalence of SDB in children varies from 1.2 to 13.9%, depending on the definition used and the method of data collection [1–4]. OSA syndrome has been estimated to be present in 1 to 2% of healthy children [5] and reports of habitual snoring vary from 4 to 34.5% in the general pediatric population [6–9]. Polysomnography identifies and quantifies sleep disturbances and is the standard method to diagnose SDB [10]. Accurate diagnosis is crucial and therapeutic interventions should be promptly initiated, as untreated SDB is associated with significant morbidity, including somatic growth impairment, poor cognitive and behavioral development, and metabolic and cardiovascular derangements [11]. Primary mitochondrial disorders (MD) are a group of inherited multisystem disorders that impair oxidative phosphorylation and create a deficiency of cellular ATP. The symptoms are varied and many organ systems are involved [12]. Approximately 45% of pediatric patients with MD first present with a neuromuscular problem [13, 14]; however, the character and degree of neuromuscular impairment are poorly defined. Fatigue and hypotonia were the most prevalent symptoms
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