Recognizing the Symptom Spectrum of Narcolepsy to Improve Timely Diagnosis: A Narrative Review

Abstract

Laury Quaedackers,1 Sigrid Pillen,1 Sebastiaan Overeem2 1Sleep Medicine Center Kempenhaeghe, Heeze, the Netherlands; 2Biomedical Diagnostics Laboratory, Department of Electrical Engineering, Eindhoven University of Technology, Eindhoven, the NetherlandsCorrespondence: Sebastiaan OvereemSleep Medicine Center Kempenhaeghe, Sterkselseweg 65, Heeze, VE, 5591, the NetherlandsTel [phone]Fax [phone]Email [email protected]: Narcolepsy is a chronic sleep disorder with a strong negative impact on quality of life, especially when untreated. Diagnostic delay is a persistent problem, with obvious detrimental effects on patients. A diagnosis of narcolepsy may be delayed because of its broad symptom presentation which is much more encompassing than the classical “tetrad” of sleepiness, cataplexy, hallucinations, and sleep paralysis. Furthermore, symptoms can vary over time. Presentation of symptoms can also be markedly different between children and adults. Finally, common sleep-related comorbidities increase the risk of narcolepsy being masked by overlapping symptoms or treatment. In this review, we provide a detailed description of the broad and dynamic symptom spectrum of narcolepsy, with specific attention to the different manifestations in both adults and children. The overarching goal is to help not only sleep specialists, but general practitioners, pediatricians, and other caregivers with early recognition and prompt diagnosis of this severe but treatable disorder.Keywords: narcolepsy type 1, cataplexy, screening, diagnosis, diagnostic delay, polysomnography, pediatrics

Keywords

• narcolepsy type 1
• cataplexy
• screening
• diagnosis
• diagnostic delay
• polysomnography
• pediatrics.