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This chapter addresses the prevalence of sleepiness in obstructive sleep apnea syndrome (OSA) and the potential confusion with fatigue, depression and attentional deficits. In clinical practice, sleepiness is in most cases evaluated by the Epworth Sleepiness Scale (ESS). Sleep fragmentation and other sleep structure disturbances are classically considered the main causes of daytime sleepiness in OSA patients. Sleepiness, regardless of its cause, affects driving ability through increased reaction time, inattentiveness or microsleep episodes. Obstructive sleep apnea syndrome (OSAS) and hypertension are linked in a dose-response fashion. This is true even when taking into account confounding factors such as age, alcohol, tobacco consumption, and body mass index (BMI). The beneficial continuous positive airway pressure (CPAP) effect is obtained after only a few weeks of treatment, with quality of life returning to normal. CPAP treatment restores normal alertness except in some patients with residual excessive sleepiness.
A 9-year-old male with a diagnosis of fragile X syndrome (FXS) was evaluated for cyanotic episodes of unknown etiology. Clinical observation revealed frequent episodes of hyperventilation lasting several minutes, only while the patient was awake. This was followed by apnea associated with cyanosis and oxygen desaturation. Polysomnogram confirmed episodic central apnea temporally associated with hypocapnia, only during the awake state. Extensive evaluation failed to reveal other neurological, cardiac, gastrointestinal, or pulmonary etiologies for the events. The clinical observations and investigations allowed us to conclude that the patient's cyanotic episodes were caused by primary behavioral hyperventilation in the awake state. Similar behaviors have been reported in children with a variety of diagnoses but to our knowledge have not been previously reported in children with FXS. Treatment for this unusual behavior in FXS consists of reassurance and behavior modification to decrease the frequency and severity of the cyanotic episodes.
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