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I'm a PatientDifferential Diagnosis for Pediatric Patients
Narcolepsy in pediatric patients is often misdiagnosed as a more common medical condition, such as attention-deficit/hyperactivity disorder (ADHD), epilepsy, depression, syncope, or other sleep disorders.1-5 Further complicating diagnosis, children with narcolepsy commonly present with behavioral or mood disorders, such as ADHD, depression, and anxiety, which may be part of the clinical spectrum of the disease itself, reactive to the disease, or a comorbid psychiatric condition.3,6,7
When making a differential diagnosis, it’s important to remember that narcolepsy is a rare illness that can sometimes be comorbid to other conditions.1,3,6,7
Distinguishing Narcolepsy From More Common Pediatric Conditions
Narcolepsy and/or ADHD?
Excessive daytime sleepiness in narcolepsy can be similar to symptoms of ADHD.7,8
- Children with excessive daytime sleepiness may present as aggressive, irritable, or hyperactive in an attempt to cope with or counteract sleepiness.3,7
- Excessive daytime sleepiness is frequently mislabeled as laziness or can manifest as hyperactivity, inattention, or behavioral problems, which may be misdiagnosed as ADHD.7
- Treatment of ADHD may improve sleepiness-related hyperactivity, further confounding the narcolepsy diagnosis.1,3
Distinguish Narcolepsy
Patients with narcolepsy may have difficulty maintaining sleep but fall asleep easily,9 while patients with ADHD can demonstrate significantly increased objective latency to sleep onset and subjective sleep onset difficulties.10
Narcolepsy and/or Epilepsy?
The sudden, recurrent, and intensifying nature of cataplexy may be confused with a seizure disorder.5,11,12
- Sudden loss of muscle tone associated with cataplexy can be mistaken as seizures.5
- Cataplexy attacks that present as asymmetric loss of muscle tone or facial cataplexy that resembles twitching may be mistaken for focal seizures.5
- Microsleeps can clinically resemble absence seizures.5
Distinguish Narcolepsy
- Consciousness is maintained during a cataplexy attack.5
- Electroencephalogram abnormalities are present during epileptic attacks and in between attacks.5
- Triggers for cataplexy attacks are typically emotions; triggers for reflex seizures are usually sensory stimuli, such as light, photostimulation, or touch.5
Narcolepsy and/or Mood Disorder?
Several symptoms associated with narcolepsy may be attributed to depression, anxiety, or other psychiatric disorders.
- Children with narcolepsy frequently present as overweight/obese, particularly close to disease onset.12,13
- Symptoms such as fatigue, disrupted nocturnal sleep, and weight change may be attributed to mood disorders.7
- Hypnagogic hallucinations may be confused with night terrors, nightmares, or panic attacks, or they may be mistaken for symptoms of psychiatric disorders.2
Distinguish Narcolepsy
Objective measures of sleep characteristics using polysomnography (PSG)/multiple sleep latency test (MSLT) can help differentiate from sleepiness associated with mood disorders.3,7
Narcolepsy and/or OSA?
Weight gain is common at the onset of narcolepsy, which may predispose patients to develop sleep-disordered breathing.12,13 As a result, these patients may receive a diagnosis of obstructive sleep apnea (OSA).12 Although OSA and narcolepsy can occur together, misdiagnosis of OSA as the primary cause of sleepiness can cause a delay in the diagnosis of narcolepsy.12
Distinguish narcolepsy
- Other symptoms of narcolepsy, such as hypnagogic hallucinations, automatic behavior, sleep paralysis, and excessive and unusual dreaming, are present in addition to excessive daytime sleepiness.12
- Cataplexy is present.12
Other Common Misdiagnoses
Myopathy
- Close to disease onset, cataplexy can mimic a spectrum of motor disorders and muscle diseases resulting in a misdiagnosis of myopathy.7,14
Syncope
- Loss of muscle tone and rapid recovery associated with cataplexy may be confused with syncope.5
- To differentiate cataplexy attacks from syncope, thorough screening for cardiac arrhythmias, head up tilt table testing, and video recordings of the attacks may be necessary.5
- Preserved consciousness distinguishes cataplexy from syncope.5
Sydenham Chorea and PANDAS
- Sydenham chorea and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) are brain autoimmune poststreptococcal diseases that occur in pediatric patients.14
- Narcolepsy with cataplexy is often confused with Sydenham chorea or PANDAS due to overlap of certain characteristics, such as episodic course, childhood onset with acute presentation following streptococcal infection, and coexistence of motor and behavioral symptoms that present similarly to cataplexy in narcolepsy in pediatric patients.14
Consider narcolepsy for pediatric patients presenting with:
- Manifestations of excessive daytime sleepiness and abnormal motor phenomena2,9,15
- Excessive sleepiness with episodic loss of muscle tone, poor attention, and/or weight gain16
- Maski K, Owens JA. Insomnia, parasomnias, and narcolepsy in children: clinical features, diagnosis, and management. Lancet Neurol. 2016;15(11):1170-1181.
- Babiker MOE, Prasad M. Narcolepsy in children: a diagnostic and management approach. Pediatr Neurol. 2015;52(6):557-565.
- Rocca FL, Pizza F, Ricci E, Plazzi G. Narcolepsy during childhood: an update. Neuropediatrics. 2015;46(3):181-198.
- Carter LP, Acebo C, Kim A. Patients’ journeys to a narcolepsy diagnosis: a physician survey and retrospective chart review. Postgrad Med. 2014;126(3):216-224.
- Pillen S, Pizza F, Dhondt K, Scammell TE, Overeem S. Cataplexy and its mimics: clinical recognition and management. Curr Treat Options Neurol. 2017;19(6):23.
- Aran A, Einen M, Lin L, Plazzi G, Nishino S, Mignot E. Clinical and therapeutic aspects of childhood narcolepsy-cataplexy: a retrospective study of 51 children. Sleep. 2010;33(11):1457-1464.
- Postiglione E, Antelmi E, Pizza F, Lecendreux M, Dauvilliers Y, Plazzi G. The clinical spectrum of childhood narcolepsy. Sleep Med Rev. 2018;38:70-85.
- 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):419-425.
- American Academy of Sleep Medicine. Central disorders of hypersomnolence. In: The International Classification of Sleep Disorders – Third Edition (ICSD-3) Online Version. Darien, IL: American Academy of Sleep Medicine; 2014.
- Cortese S, Faraone SV, Konofal E, Lecendreux M. Sleep in children with attention-deficit/hyperactivity disorder: meta-analysis of subjective and objective studies. J Am Acad Child Adolesc Psychiatry. 2009;48(9):894-908.
- Serra L, Montagna P, Mignot E, Lugaresi E, Plazzi G. Cataplexy features in childhood narcolepsy. Mov Disord. 2008;23(6):858-865.
- Thorpy M, Morse AM. Reducing the clinical and socioeconomic burden of narcolepsy by earlier diagnosis and effective treatment. Sleep Med Clin. 2017;12(1):61-71.
- Inocente CO, Lavault S, Lecendreux M, et al. Impact of obesity in children with narcolepsy. CNS Neurosci Ther. 2013;19(7):521-528.
- Plazzi G, Pizza F, Palaia V, et al. Complex movement disorders at disease onset in childhood narcolepsy with cataplexy. Brain. 2011;134(pt 12):3480-3492.
- Green PM, Stillman MJ. Narcolepsy: signs, symptoms, differential diagnosis, and management. Arch Fam Med. 1998;7(5):472-478.
- Kauta SR, Marcus CL. Cases of pediatric narcolepsy after misdiagnoses. Pediatr Neurol. 2012;47(5):362-365.