Misdiagnosis of narcolepsy

Abstract

BackgroundNarcolepsy is a chronic primary sleep disorder, characterized by excessive daytime sleepiness and sleep dysfunction with or without cataplexy. Narcolepsy is uncommon, with a low prevalence rate which makes it difficult to diagnose definitively without a complex series of tests and a detailed history. The aim of this study was to review patients referred to a tertiary sleep centre who had been labelled with a diagnosis of narcolepsy prior to referral in order to assess if the diagnosis was accurate, and if not, to determine the cause of diagnostic misattribution.MethodsAll patients seen at a sleep centre from 2007–2013 (n = 551) who underwent detailed objective testing including an MSLT PSG, as well as wearing an actigraphy watch and completing a sleep diary for 2 weeks, were assessed for a pre-referral and final diagnosis of narcolepsy.ResultsOf the 41 directly referred patients with a diagnostic label of narcolepsy, 19 (46 %) were subsequently confirmed to have narcolepsy on objective testing and assessment by a sleep physician using ICSD-2 criteria.ConclusionsThe diagnosis of narcolepsy was incorrectly attributed to almost 50 % of patients labelled with a diagnosis of narcolepsy who were referred for further opinion by a variety of specialists and generalists. Accurate diagnosis of narcolepsy is critical for many reasons, such as the impact it has on quality of life, driving, employment, insurance and pregnancy in women as well as medication management.

Red Flags for early referral of people with symptoms suggestive of narcolepsy: a report from a national multidisciplinary panel

“…Indeed, the best predictor of a delayed diagnosis, along with the absence of cataplexy, is known to be the pediatric onset of symptoms [ 26 ]. This is because pediatric narcolepsy near the onset of the disease may have peculiar features [ 3 , 36 ], as excessive daytime sleepiness may be manifested as paradoxical hyperactivity, elongation of nighttime sleep, resume of post prandial sleep and symptoms like hallucinations, RBD, and confusional arousals may be difficult to be articulated by children [ 26 , 27 ]. Similarly, cataplexy at onset may present with the peculiar subcontinuous hypotonia and “cataplectic face” with superimposed dyskinesia or motor hyperactivity resembling other neurodevelopmental disorders [ 23 , 24 , 28 ].…”

“…Excessive daytime sleepiness can manifest as attentional problems, paradoxical hyperactivity, elongation of nighttime sleep, and resuming of postprandial sleep [ 3 ]. Hallucinations can be underrecognized because of the difficulty for children to recognize and describe them and for the possible coexistence of nightmares, rapid eye movement (REM) sleep behavior disorder (RBD), sleep terrors, and confusional arousals [ 26 , 27 ]. Children with NT1 may have peculiar features of cataplexy with subcontinuous hypotonia, mainly involving the facial district “cataplectic face” and superimposed dyskinesia [ 23 , 24 , 28 ].…”

Schlafapnoe-Diagnostik demaskiert Narkolepsie

“…in Bezug auf das Autofahren). Ein Teil der nicht diagnostizierten Narkolepsien könnte somit dadurch erklärt werden, dass eine Diagnosestellung wegen der damit verbundenen Folgen von den betroffenen Menschen gar nicht gewünscht wird (8).…”

“…Mayer und Kollegen fanden bei einer retrospektiven Analyse von 106 Narkolepsie-Patienten als häufigste Komorbiditäten: Albträume (41,5 %), Adipositas (34,9 %), Sprechen im Schlaf (25,5 %), REM-Verhaltensstörungen (18,9 %) und auch schlafbezogene Atmungsstörungen (17,9 %) (7). Dunne und Kollegen fanden bei einer Nachuntersuchung von 41 Patienten, die unter der Verdachtsdiagnose "Narkolepsie" in eine schlafmedizinisches Zentrum überwiesen wurden, dass diese Diagnose in über 50 % nicht zutraf (8). Sie diagnostizierten letztlich ca.…”

Psychogenic Seizure Imitating Narcolepsy

“…The diagnosis of narcolepsy is often delayed, with an average time from symptoms onset to diagnosis of 5–15 years. Errors in the diagnosis of patients with narcolepsy reach up to 46% [ 2 ].…”