Clinician-Based Survey Highlights Challenges in Diagnosing Narcolepsy in Children, Adolescents


When asked which efficacious diagnostic or treatment options they hope to see in the future, a majority of physicians, especially specialists, expressed a desire to see more useful biomarkers, followed by more effective diagnostic tests overall.

Kiran Maski, MD, MPH, physician, Department of Neurology, Boston Children’s Hospital, and associate professor, Harvard Medical School

Kiran Maski, MD, MPH

A recently published physician survey from Wake Up Narcolepsy showed an upward trend in the awareness and knowledge of narcolepsy; however, nearly 2-in-3 children and adolescents with narcolepsy experience misdiagnoses, raising the concern about the diagnostic delay of the condition.1

The analysis included 100 practicing physicians in the greater Boston area who diagnose or treat narcolepsy in children and adolescents. Most of the sample treated narcolepsy type 1 (59%) and had between 5 and 9 years of experience (63%). Clinician backgrounds were diverse, as 32% of the cohort were neurologists, followed by sleep specialists (24%), pediatricians (20%), psychiatrists (12%), and others.

Findings from the survey showed that 71% of responders believe they are very knowledgeable about narcolepsy, which was up from the 2012 AWAKEN survey,2 in which 62% of sleep specialists considered themselves “very” or "extremely" knowledgeable about narcolepsy. In terms of perception of neurological disorders, 9-in-10 responders considered narcolepsy very serious. This topped other neurological disorders such as Parkinson disease (81%) and Alzheimer disease (78%).

"These survey results are illuminating, as they highlight improved physician knowledge about narcolepsy compared to previously published data," Kiran Maski, MD, MPH, physician, Department of Neurology, Boston Children’s Hospital, and associate professor, Harvard Medical School, said in a statement.1 "Still, diagnostic delays persist so there remains a continued need to educate healthcare providers and the public about narcolepsy symptoms to achieve timely diagnosis and treatment for patients. I believe these survey insights will help to improve education, reduce the time from symptoms to diagnosis, and enhance the overall treatment experience for patients and their families."

Despite growing awareness, the research showed that gaps exist when it comes to diagnosing narcolepsy in children and adolescents. Just more than half (57%) of the surveyed physicians admitted they feel very comfortable diagnosing narcolepsy in this age group, and only 1-in-5 consider narcolepsy top of mind when diagnosing and treating patients. In total, 96% of respondents felt somewhat comfortable in diagnosing narcolepsy, while 4% felt not too comfortable at all.

There are 5 main symptoms of narcolepsy, referred to as CHESS (cataplexy, hallucinations, excessive daytime sleepiness, sleep paralysis, and sleep disruption). Almost all the respondents (97%) could identify at least 1 symptom; however, less than half (48%) could identify at least 3, and only 4% could identify all 5. Physicians typically looked for excessive daytime sleepiness (64%), sleep paralysis (63%), changes in REM sleep (62%), and weight changes (62%) when diagnosing narcolepsy.

Maski added, "Narcolepsy usually presents with severe and debilitating daytime sleepiness. Early diagnosis of narcolepsy is critical to ensuring a successful treatment plan and promoting safety. However, due to lack of awareness about narcolepsy among healthcare providers and difficulties teasing out narcolepsy symptoms from other conditions or co-morbidities, narcolepsy diagnosis is often delayed, especially among children and adolescents."

Additional data from the survey showed that it can take anywhere from 2 to 10 years from patient-reported symptom onset to a diagnosis of narcolepsy. Most patients were between 3 and 5 years (54%) before getting diagnosed with their condition. On average 64% of children and adolescents with narcolepsy were misdiagnosed originally, with insomnia (79%) as the highest reported misdiagnosis, followed by idiopathic hypersomnia (64%), anxiety/depression (60%), epilepsy/seizures (60%), and obstructive sleep apnea (59%).

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Depression and anxiety (65%), thought problems (62%), and slower metabolism and obesity (61%) were among the most common complications when dealing with narcolepsy. Other frequent complications included personality changes (55%), and isolation and withdrawal (54%).

As it pertains to the near future, most physicians (76%) claimed they primarily hope to see improvements in biomarkers over the next 3 years. Following that, they expressed a desire for more effective diagnostic tests overall (54%), immediate testing results (48%), diagnostic tests for type 2 narcolepsy (46%), genetic testing (31%), and having standards to guide in-home or self-assessments (24%).

In terms of experience with narcolepsy diagnostic methods, almost all physicians were very familiar with tools like the Multiple Sleep Latency Test (86%) and polysomnography testing (85%); however, only 26% of respondents were very familiar with the Pediatric Hypersomnolence Survey (PHS). The PHS, developed by Maski, is used to improve early identification of narcolepsy and idiopathic hypersomnia in children and adolescents ages 8 to 18.

1. Wake Up Narcolepsy physician survey shows significant challenges in successful diagnosis of narcolepsy. News release. Wake Up Narcolepsy. September 22, 2022. Accessed October 18, 2022.
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