Listening to the Patient Voice in Narcolepsy: Diagnostic Delay, Disease Burden, and Treatment Efficacy

Abstract

Study Objectives: Describe common symptoms, comorbidities, functional limitations, and treatment responsiveness among patients with narcolepsy. Investigate the effect of pediatric onset of narcolepsy symptoms on time to diagnosis of narcolepsy and presence of comorbid depression. Methods: Cross-sectional survey of 1,699 people in the United States with self-reported diagnosis of narcolepsy. We utilized mixed-methods data analyses to report study findings. Results: Most participants reported receiving a diagnosis of narcolepsy more than 1 y after symptom onset. We found that the strongest predictor of this delayed diagnosis was pediatric onset of symptoms (odds ratio = 2.4, p < 0.0005). Depression was the most common comorbidity but we detected no association with pediatric onset of narcolepsy symptoms. Overall, participants reported that fatigue and cognitive difficulties were their most burdensome symptoms in addition to sleepiness and cataplexy. The majority of participants reported residual daytime fatigue and/or sleepiness despite treatment. Most participants reported they could not perform at work or school as well as they would like because of narcolepsy symptoms. Conclusions: This study provides unique insight into the narcolepsy disease experience. The study quantifies the problem of diagnostic delay for narcolepsy patients in the United States and highlights that symptoms are more likely to be missed if they develop before 18 y of age. These results suggest that narcolepsy awareness efforts should be aimed at parents, pediatric health care providers, school professionals, and children/adolescents themselves. Disease burden is high because of problems with fatigue, cognition, and persistence of residual symptoms despite treatment.

A randomized study of solriamfetol for excessive sleepiness in narcolepsy

“…Excessive sleepiness (ES) and impaired daytime wakefulness are essential and somewhat independent symptoms of narcolepsy . These symptoms contribute to reductions in function, productivity, and quality of life, and an increased risk for motor vehicle accidents . Although ES and impaired wakefulness are present in all individuals with narcolepsy, 2 types of narcolepsy are recognized: type 1 and type 2, formerly known as narcolepsy with and without cataplexy, respectively.…”

<p>Living with Narcolepsy: Current Management Strategies, Future Prospects, and Overlooked Real-Life Concerns</p>

“…Some of the reported therapeutic challenges for the narcolepsy community included variable responsiveness and limited access to available treatment options, as well as intolerable drug side effects. 42 The Maski et al 43 report of the Unite Narcolepsy survey, administered in conjunction with the PFDDI meeting, indicated that 57.1% of people with narcolepsy experienced daytime sleepiness or fatigue three or more times per day in spite of treatment while only 3.9% reported no daytime sleepiness in response to treatment. The lack of perceived efficacy, as well as side effects, drug interactions, and high costs, likely contribute to inconsistent medication use.…”

Narcolepsy and Psychiatric Disorders: Comorbidities or Shared Pathophysiology?

“…Alternatively, these features may be related to or even confused with the sense of cognitive impairments such as mental fog and difficulty thinking. Cognitive features, such as mental fogginess, have been found to be among the most significant symptoms affecting the daily life of patients with narcolepsy [ 19 ]. Hyperactivity seen in ADHD may, in fact, be a compensatory response for individuals who are under-aroused or sleepy [ 11 ].…”