Sleep and Vigilance

, Volume 2, Issue 2, pp 103–109 | Cite as

Diagnostic Delay of Narcolepsy: Contributing Factors and Implications for Clinicians

  • Jagriti BhattaraiEmail author
  • Scott W. Sumerall



Narcolepsy is a lifelong condition affecting one person per every 2000 worldwide. It is widely underrecognized and most are not diagnosed until 10–15 years after initial symptom onset. The purpose of this review was to provide an overview on the factors that contribute to the diagnostic delay of narcolepsy along with associated implications for clinicians.


A search of the literature in electronic databases was conducted examining data related to a diagnosis of narcolepsy. Keywords used for the search included ‘diagnosing narcolepsy,’ ‘delayed diagnosis of sleep disorders,’ etc. Of approximately 50 articles, 15 were included in this review for their relevancy and evidence, based on the Strength of Recommendation Taxonomy (SORT) system.


On average, the duration in diagnostic delay was reported to be 7 years. Contributing factors included the absence of cataplexy, lack of awareness and underrecognition, presence of comorbidities and medications, limitations of and lack of consistency in current diagnostic methods, and age of onset.


This review highlighted major contributing factors of the diagnostic delay of narcolepsy. Recommendations for clinicians included the following: (1) learn and disseminate information about narcolepsy and (2) what narcolepsy is NOT, and; (3) employ evidence-based diagnostic procedures and/or refer to specialist.


Sleep disorders Diagnosis Comorbidity Evidence based medicine Primary care 


Author Contribution

All authors contributed in a significant way to the manuscript and have read and approved the final version.


There are no funding sources to report for this manuscript.

Compliance with Ethical Standards

Conflict of Interest

The authors report no conflicts of interest.


  1. 1.
    Black J, Reaven NL, Funk SE, et al. The burden of narcolepsy disease (bond) study: health-care utilization and cost findings. Sleep Med. 2014;15(5):522–9. PubMed PMID: 24768358.CrossRefPubMedGoogle Scholar
  2. 2.
    Thorpy MJ, Krieger AC. Delayed diagnosis of narcolepsy: characterization and impact. Sleep Med. 2014;15(5):502–7. PubMed PMID: 24780133.CrossRefPubMedGoogle Scholar
  3. 3.
    Overeem S, Reading P, Bassetti CL. Narcolepsy. Sleep Med Clin. 2012;7(2):263–81. Scholar
  4. 4.
    Carter LP, Acebo C, Kim A. Patients’ journeys to a narcolepsy diagnosis: a physician survey and retrospective chart review. Postgrad Med. 2014;126(3):216–24. PubMed PMID: 24918805.CrossRefPubMedGoogle Scholar
  5. 5.
    Jennum P, Ibsen R, Petersen ER, et al. Health, social, and economic consequences of narcolepsy: a controlled national study evaluating the societal effect on patients and their partners. Sleep Med. 2012;13(8):1086–93. PubMed PMID: 22841027.CrossRefPubMedGoogle Scholar
  6. 6.
    Nevsimalova S, Pisko J, Buskova J, et al. Narcolepsy: clinical differences and association with other sleep disorders in different age groups. J Neurol. 2013;260(3):767–75. PubMed PMID: 23070467.CrossRefPubMedGoogle Scholar
  7. 7.
    American Academy of Sleep Medicine (AASM). The international classification of sleep disorders-third edition (ICSD-3). Darien: American Academy of Sleep Medicine; 2014.Google Scholar
  8. 8.
    Ruoff C, Rye D. The ICSD-3 and DSM-5 guidelines for diagnosing narcolepsy: clinical relevance and practicality. Curr Med Res Opin. 2016;32(10):1611–22.CrossRefGoogle Scholar
  9. 9.
    Krahn LE, Hershner S, Loeding LD, et al. Quality measures for the care of patients with narcolepsy. J Clin Sleep Med. 2015;11(3):335. Scholar
  10. 10.
    American Psychiatric Association (APA). Diagnostic and statistical manual of mental disorders. 5th ed. VA: American Psychiatric Association; 2013.CrossRefGoogle Scholar
  11. 11.
    Ebell MH, Siwek J, Weiss BD, et al. Strength of recommendation taxonomy (SORT): a patient-centered approach to grading evidence in the medical literature. J Am Board Fam Pract. 2004;17(1):59–67.CrossRefGoogle Scholar
  12. 12.
    Weiss BD. SORT-strength of recommendation taxonomy. Fam Med. 2004;36(2):141–3.PubMedGoogle Scholar
  13. 13.
    Frauscher B, Ehrmann L, Mitterling T, et al. Delayed diagnosis, range of severity, and multiple sleep comorbidities: a clinical and polysomnographic analysis of 100 patients of the innsbruck narcolepsy cohort. J Clin Sleep Med. 2013;9(8):805–12. Scholar
  14. 14.
    Maski K, Steinhart E, Williams D, et al. Listening to the patient voice in narcolepsy: diagnostic delay, disease burden, and treatment efficacy. J Clin Sleep Med. 2017;13(3):419.CrossRefGoogle Scholar
  15. 15.
    Morrish E, King MA, Smith IE, et al. Factors associated with a delay in the diagnosis of narcolepsy. Sleep Med. 2004;5(1):37–41.CrossRefGoogle Scholar
  16. 16.
    Taddei RN, Werth E, Poryazova R, et al. Diagnostic delay in narcolepsy type 1: combining the patients’ and the doctors’ perspectives. J Sleep Res. 2016;25(6):709–15. Scholar
  17. 17.
    Ueki Y, Hayashida K, Komada Y, et al. Factors associated with duration before receiving definitive diagnosis of narcolepsy among japanese patients affected with the disorder. Int J Behav Med. 2014;21(6):966–70.CrossRefGoogle Scholar
  18. 18.
    Baumann CR, Mignot E, Lammers GJ, et al. Challenges in diagnosing narcolepsy without cataplexy: a consensus statement. Sleep. 2014;37(6):1035–42. Scholar
  19. 19.
    Rosenberg R, Kim AY. The AWAKEN survey: knowledge of narcolepsy among physicians and the general population. Postgrad Med. 2014;126(1):78–86. PubMed PMID: 24393754.CrossRefPubMedGoogle Scholar
  20. 20.
    Dunne L, Patel P, Maschauer EL, et al. Misdiagnosis of narcolepsy. Sleep Breath. 2016;20(4):1277–84. Scholar
  21. 21.
    Jennum P, Ibsen R, Knudsen S, et al. Comorbidity and mortality of narcolepsy: a controlled retro- and prospective national study. Sleep. 2013;36(6):835–40. Scholar
  22. 22.
    Jara CO, Popp R, Zulley J, et al. Determinants of depressive symptoms in narcoleptic patients with and without cataplexy. J Nerv Ment Dis. 2011;199(5):329–34. PubMed PMID: 21543952.CrossRefPubMedGoogle Scholar
  23. 23.
    Black J, Reaven NL, Funk S, et al. High rates of medical comorbidity in narcolepsy: findings from the burden of narcolepsy disease (BOND) study of 9,312 patients in the United States. Sleep. 2013;36:A249.CrossRefGoogle Scholar
  24. 24.
    Bayard S, Croisier Langenier M, Cochen De Cock V, et al. Executive control of attention in narcolepsy. PLoS One. 2012;7(4):e33525. Scholar
  25. 25.
    National Institute of Neurological Disorders and Stroke (NINDS). Narcolepsy fact sheet. MD: National Institutes of Health; 2015.Google Scholar
  26. 26.
    Vignatelli L, Plazzi G, Peschechera F, et al. A 5-year prospective cohort study on health-related quality of life in patients with narcolepsy. Sleep Med. 2011;12(1):19–23. PubMed PMID: 20851047.CrossRefPubMedGoogle Scholar
  27. 27.
    Hughes S, Finnegan T, Ullman S, et al. Online medical education improves knowledge and competence in the management of clinically challenging cases of narcolepsy among neurologists (P3. 063). Neurology. 2017;88(16 Supplement):P3–063.Google Scholar
  28. 28.
    Ohayon MM. Narcolepsy is complicated by high medical and psychiatric comorbidities: a comparison with the general population. Sleep Med. 2013;14(6):488–92. PubMed PMID: 23643648.CrossRefPubMedGoogle Scholar
  29. 29.
    Walters AS, Silvestri R, Zucconi M, et al. Review of the possible relationship and hypothetical links between attention deficit hyperactivity disorder (ADHD) and the simple sleep related movement disorders, parasomnias, hypersomnias, and circadian rhythm disorders. J Clin Sleep Med. 2008;4:591–600.PubMedPubMedCentralGoogle Scholar
  30. 30.
    Thorpy MJ, Dauvilliers Y. Clinical and practical considerations in the pharmacologic management of narcolepsy. Sleep Med. 2015;16(1):9–18. PubMed PMID: 25458251.CrossRefPubMedGoogle Scholar
  31. 31.
    Ahmed I, Thorpy M. Clinical features, diagnosis and treatment of narcolepsy. Clin Chest Med. 2010;31(2):371–81. PubMed PMID: 20488294.CrossRefPubMedGoogle Scholar
  32. 32.
    Flygare J, Parthasarathy S. Narcolepsy: let the patient’s voice awaken us! Am J Med. 2015;128(1):10–3. Scholar
  33. 33.
    Kim LJ, Coelho FM, Hirotsu C, et al. Frequencies and associations of narcolepsy-related symptoms: a cross-sectional study. J Clin Sleep Med. 2015;11(12):1377.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  1. 1.Division of Rehabilitation Psychology and Neuropsychology, Department of Physical Medicine and RehabilitationJohns Hopkins University School of MedicineBaltimoreUSA
  2. 2.VA Eastern Kansas Health Care SystemDwight D. Eisenhower VA Medical CentreLeavenworthUSA

Personalised recommendations