percent of patients have been shown to have a mutation of the gene (Weese-Mayer et al., 2003), which is dominant and usually a de novo mutation. This finding has already become useful in clinical practice, with clinical testing and amniocentesis now available.
There has been increasing research in the area of pediatric sleep-disordered breathing. Several studies have provided a better understanding of the pathophysiology of OSA in children, including the role of upper airway reflexes in this disease (Gozal and Burnside, 2004; Marcus et al., 2005). Major advances have been made in understanding the complications of childhood OSA. In particular, work from a number of different labs has shown that very mild obstructive apnea, and perhaps even primary snoring, is associated with changes in neurocognitive and behavioral function in children (Fregosi et al., 2003; Rosen et al., 2004; Gottlieb et al., 2004a). Other studies have shown that childhood OSA is associated with cardiac hypertrophy (Amin et al., 2005), inflammation (Tauman et al., 2004; Larkin et al., 2005b), and the metabolic syndrome (de la Eva et al., 2002), potentially putting children at risk for cardiovascular complications later in life. Of great interest is the observation of adverse outcomes in individuals with a very mild sleep apnea (including habitual snoring without appreciable levels of overnight hypoxemia). Given that almost all of the work to date has been descriptive, it is imperative that interventional studies assess whether early diagnosis and treatment would modify short- or long-term health outcomes. In this regard, there is also a need to identify the efficacy of sleep apnea treatment in children, including tonsillectomy and adenoidectomy, for which there has not yet been a single randomized controlled study of treatment for sleep apnea.
The impact of sleep deprivation and shift work on driving and industrial accidents has been known for more than a decade. Unfortunately, change, especially in the area of commercial driving, has been difficult to implement. Modafinil, a wake-promoting agent, may be effective for the treatment of shift work disorder and prove to be useful in this setting (Czeisler et al., 2005). Sleep deprivation is also increasingly recognized as being associated with poor school performance, especially when school restarts after an extended number of days off. This may be mediated by delayed sleep phase, early school start time, and increased sleep need during adolescence (Carskadon et al., 2004).
Recent studies have shown that sleep deprivation causes medical errors among physicians (Lockley et al., 2004; Landrigan et al., 2004; Barger et al., 2005). Attentional lapses and errors can be improved by reducing work hours and increasing sleep (Lockley et al., 2004; Landrigan et al., 2004).