Typically beginning in childhood or adolescence, narcolepsy affects approximately 0.03% of the US, European, Korean and Chinese populations 4. This is reflected in the cerebrospinal fluid (CSF) concentrations of the hypocretin-1 (orexin-A) neuropeptide, where a concentration below 110 pg/ml is considered indicative of narcolepsy 2. There are ~90 different sleep disorders including insomnia (20% of population), obstructive and central sleep apnea (10%), restless legs syndrome (4%), rapid eye movement (REM) sleep behavior disorder (RBD) and hypersomnia syndromes such as type 1 narcolepsy (T1N) 2.Īmong these pathologies, T1N is unique as a disorder with a known, discrete pathophysiology-a destruction of hypocretin neurons in the hypothalamus likely of autoimmune origin 3. Sleep deprivation impairs performance, judgment and mood, and is a major preventable contributor to accidents 1. Sleep disorders and sleep dysregulation impact over 100 million Americans, contributing to medical consequences such as cardiovascular (arrhythmia, hypertension, stroke), metabolic (diabetes, obesity) and psychiatric disorders (depression, irritability, addictive behaviors). It also opens the possibility of diagnosing T1N using home sleep studies. Our method can reduce time spent in sleep clinics and automates T1N diagnosis. Addition of HLA-DQB1*06:02 typing increased specificity to 99%. A T1N marker based on unusual sleep stage overlaps achieved a specificity of 96% and a sensitivity of 91%, validated in independent datasets. It also reliably scores sleep down to 5 s instead of 30 s scoring epochs. The best model performed better than any individual scorer (87% versus consensus). Accuracy of sleep stage scoring was validated in 70 subjects assessed by six scorers. Here, we used neural networks in approximately 3,000 normal and abnormal sleep recordings to automate sleep stage scoring, producing a hypnodensity graph-a probability distribution conveying more information than classical hypnograms. Analysis of sleep for the diagnosis of sleep disorders such as Type-1 Narcolepsy (T1N) currently requires visual inspection of polysomnography records by trained scoring technicians.
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