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Proactive Diagnosis of Narcolepsy

Proactive Diagnosis of Narcolepsy

Narcolepsy can be a debilitating sleep disorder caused by the dysregulation of neurophysiological pathways that control the stability of sleep and wake states in patients. Narcolepsy has a worldwide prevalence of about 26 to 50 per 100,000 individuals. However, the disease is associated with high healthcare resource use, substantial functional limitations, and reduced employment and work productivity. Studies also show that patients with narcolepsy have a higher medical and psychiatric comorbidity burden. The chronicity of narcolepsy mandates that patients receive life-long treatment, regardless of their age of onset. Narcolepsy Symptom Onset The onset of narcolepsy generally occurs during a person’s second decade of life, but it’s commonly reported that there are delays between symptom onset and a narcolepsy diagnosis, sometimes for as long as 5 to 10 years. Narcolepsy tends to be clinically defined by a symptom tetrad of: 1. Excessive daytime sleepiness. 2. Cataplexy. 3. Hypnagogic or hypnopompic hallucinations. 4. Sleep paralysis. Disturbed and fragmented nocturnal sleep often reported by patients suggests that narcolepsy actually comprises a symptom pentad. However, patients typically do not show all five symptoms. Research suggests that there is an autoimmune explanation for narcolepsy. It has been associated with seasonal streptococcus infections and H1N1 influenza and vaccination. Narcolepsy has also been linked to a specific genotype of the human leukocyte antigen, HLA-DQB1*06. This genotype may underlie the observed loss of the hypocretin-producing neurons that are associated with narcolepsy. Understanding & Perceptions of Narcolepsy My colleagues and I recently published a survey—the Awareness and Knowledge of Narcolepsy—to assess the understanding and perceptions of narcolepsy. Participants included 1,000 adults, 300 primary care physicians (PCPs), and 100...
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