![]() ![]() The complex and sometimes even paradoxical childhood phenotype will receive special attention. In this review, we provide a detailed overview of the broad and dynamic symptom spectrum of narcolepsy, with a specific focus on the broad variety of symptoms and co-morbidities. Not only efficacious treatment options will be delayed, but misinterpreted or mislabeled signs and symptoms could result in negative responses from the environment of patients adding to the social stigma. A delay in diagnosis can have significant effects on the burden of the disease. Accurate and timely diagnosis followed by appropriate treatment could help to limit these consequences. Narcolepsy has a profound effect on wellbeing, both on an individual and a societal level. #CATAPLEXY ATTACKS PLUS#Taken together, the broad variety of symptoms between but also within patients, plus the differences in expression of symptoms throughout the lifespan with a different and sometimes peculiar pediatric phenotype, makes it complex to identify and diagnose patients with narcolepsy, increasing the risk of the condition being unrecognized, misinterpreted or misdiagnosed. 7, 8 Importantly, the experienced symptom burden is greatly influenced by external circumstances. Although narcolepsy was previously considered a chronic disease with a relatively stable course, recent studies point out that EDS and cataplexy symptoms could diminish over time. 6 In adults as well, the clinical phenotype may change from initial presentation. 5 In early childhood, the clinical picture can be markedly different compared to adults, with an abrupt debut with sudden weight gain, prolonged night-time sleep, and an acute movement disorder. Whilst narcolepsy has traditionally been thought of as a disease of early adulthood, at least one-third of the cases start before the age of fifteen. 3, 4 Unfamiliarity with this broad clinical presentation of narcolepsy hampers the already challenging diagnostic process, and may especially preclude the early recognition of the disorder, with detrimental effects to patients. It is becoming increasingly clear that the symptom spectrum of narcolepsy is much more extensive, including several symptoms that are not directly related to sleep such as psychiatric symptoms or obesity. #CATAPLEXY ATTACKS FULL#However, most patients do not present with the full pentad and may initially even emphasize other signs or symptoms. Others may even recognize the narcolepsy “pentad”, adding nocturnal sleep fragmentation as a key symptom. 2 Clinicians may be relatively familiar with the classic description of four primary narcolepsy symptoms resulting in a “tetrad”: excessive daytime sleepiness (EDS), cataplexy, sleep paralysis, and hypnagogic hallucinations. 1 It is caused by defects in hypocretin (orexin) neurotransmission, most likely through an autoimmune-mediated destruction of hypocretin cells in the dorsolateral hypothalamic region. Narcolepsy is a chronic neurologic sleep disorder with an estimated prevalence of 25–50 per 100,000. Keywords: narcolepsy type 1, cataplexy, screening, diagnosis, diagnostic delay, polysomnography, pediatrics 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. 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. Finally, common sleep-related comorbidities increase the risk of narcolepsy being masked by overlapping symptoms or treatment. Presentation of symptoms can also be markedly different between children and adults. Furthermore, symptoms can vary over time. ![]() 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. Diagnostic delay is a persistent problem, with obvious detrimental effects on patients. Sleep Medicine Center Kempenhaeghe, Sterkselseweg 65, Heeze, VE, 5591, the NetherlandsĪbstract: Narcolepsy is a chronic sleep disorder with a strong negative impact on quality of life, especially when untreated. Laury Quaedackers, 1 Sigrid Pillen, 1 Sebastiaan Overeem 2ġSleep Medicine Center Kempenhaeghe, Heeze, the Netherlands 2Biomedical Diagnostics Laboratory, Department of Electrical Engineering, Eindhoven University of Technology, Eindhoven, the Netherlands ![]()
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