Further multi-center studies are warranted to extend the present findings and integrate a shared procedure for the laboratory work-up of narcolepsy.Ĭataplexy Differential diagnosis Emotional stimulation Narcolepsy Video recording.Ĭopyright © 2017 Elsevier B.V. NT1 patients under anticataplectic medications showed less frequently hypotonic episodes than untreated ones (48.0% vs 77.8%, p = 0.003).Ī standardized video recording procedure under emotional stimulation can help in the characterization of suspected hypersomnia of central origin. Diagnosis, Differential Diagnostic Errors Humans Narcolepsy / diagnosis Narcolepsy / genetics Narcolepsy / physiopathology Narcolepsy / therapy. When tested against CSF hypocretin deficiency, the documentation of a hypotonic episode at the test showed an area under the ROC curve of 0.823 ± 0.033 (p < 0.0001). In absence of typical cataplexy, other causes of sleepiness must be considered, such as chronic insufficient sleep, idiopathic hypersomnia or narcolepsy without. The video recording under emotional stimulation captured hypotonic phenomena in 72.2%, 9.1% and 4.8% of NT1, IH/NT2, and sEDS subjects (p < 0.0001), respectively. All subjects underwent a standardized video recording procedure while watching funny movies selected according to individual preferences, and a technician blind to clinical features reviewed the recordings to identify hypotonic phenomena that were finally confirmed by patients. Two-hundred-eight consecutive patients underwent the diagnostic work-up and reached the final diagnosis of NT1 (n = 133), idiopathic hypersomnia or narcolepsy type 2 (IH/NT2 group, n = 33), or subjective excessive daytime sleepiness (sEDS group, n = 42). Nor are these symptoms, except for cataplexy, exclusive to narcolepsy. In summary, although narcolepsy symptoms may present in childhood or adolescence in most patients, not all symptoms are present at the time of diagnosis and may differ between patients 4, 13, 17. Our study aimed at testing the feasibility of a standardized video recording procedure under emotional stimulation to document cataplexy in the diagnostic work-up of suspected hypersomnia of central origin. This can complicate the diagnosis of narcolepsy in children. Since it is considered difficult to be directly observed or documented by clinicians, its diagnosis relies mainly on history taking. Cataplexy is the pathognomonic symptom of narcolepsy type 1 (NT1).
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