This is a summary of the presentation on the assessment of sleep-disordered breathing in pediatric neuromuscular diseases, presented as part of the program on pulmonary management of pediatric patients with neuromuscular disorders at the 30th annual Carrell-Krusen Neuromuscular Symposium on February 20, 2008. Pediatrics 2009123:S222-S225 S LEEP-ASSOCIATED RESPIRATORY DISORDERS are a major cause of morbidity and mortality in children with neuromuscular disease. They have a prevalence of Ͼ40%, 1 a 10-fold greater occurrence than in the general population. 2 Gas-exchange abnormalities and disrupted sleep architecture may occur in Ͼ80% of patients with neuromuscular disease. 3 Neuromuscular weakness can result in 2 different types of nocturnal respiratory problems: obstructive sleep apnea (OSA) and nocturnal hypoventilation. Both will be defined here, and pathophysiology specific to neuromuscular disease will be reviewed. The challenges of diagnosis of these conditions and the tools available to evaluate their presence will be explored.
OBSTRUCTIVE SLEEP APNEAOSA is defined as partial or complete upper airway obstruction during sleep, associated with at least 1 of the following: (1) sleep disruption; (2) hypoxemia; (3) hypercapnia; or (4) daytime symptoms. 4 On observation, there is continued chest and abdominal motion in the absence of airflow during sleep. In contrast to the common pathophysiologic mechanism of adenotonsillar hypertrophy contributing to OSA, 5 individuals with neuromuscular disease may also have weakness of the pharyngeal dilator muscles in the upper airway, which contribute to increased upper airway resistance during sleep because these muscles are required to maintain airway patency. 6 This becomes most evident in rapid eye movement (REM) sleep, 6 when these muscles are atonic. In addition, OSA may be compounded by the presence of obesity or upper airway abnormalities including retrognathia and macroglossia, which are also risk factors for OSA that contribute to a reduced airway diameter.In neuromuscular disease, the presence of OSA often precedes the development of nocturnal hypoventilation. One retrospective study that studied the presentation of sleep-disordered breathing (SDB) in Duchenne muscular dystrophy evaluated 34 subjects, of whom 32 had polysomnography; 64% had symptoms of SDB, including daytime lethargy, headache or somnolence, and/or nighttime snoring or sleep disturbance. Interestingly, the presence or absence of symptoms did not predict SDB. 7 In addition, the presence of OSA was detected in this group during the first decade of life, as compared with nocturnal hypoventilation, which appeared in the second decade.
NOCTURNAL HYPOVENTILATIONIn all individuals, there is a relative hypoventilation that occurs during sleep as a result of blunting of the hypoxic and hypercapnic drive to breathe. Therefore, there is a 25% reduction in tidal volume, a rise in arterial partial pressure of carbon dioxide of 3 to 4 mm Hg, and a reduction in arterial partial pressure of oxygen of...