Kiran Maski1,2, Erin Steinhart2, David Williams1,2, Thomas Scammell1,3, Julie Flygare4, Kimberly McCleary5, Monica Gow6. 1. Harvard Medical School, Boston, MA. 2. Boston Children's Hospital, Boston, MA. 3. Beth Israel Deaconess Hospital, Boston, MA. 4. Project Sleep, Los Angeles, CA. 5. FasterCures, A Center of the Milken Institute, Washington, DC. 6. Wake Up Narcolepsy, Inc, Worcester, MA.
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.
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 narcolepsypatients 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.
Authors: Christian R Baumann; Emmanuel Mignot; Gert Jan Lammers; Sebastiaan Overeem; Isabelle Arnulf; David Rye; Yves Dauvilliers; Makoto Honda; Judith A Owens; Giuseppe Plazzi; Thomas E Scammell Journal: Sleep Date: 2014-06-01 Impact factor: 5.849
Authors: Syed Sohail Ahmed; Wayne Volkmuth; José Duca; Lorenzo Corti; Michele Pallaoro; Alfredo Pezzicoli; Anette Karle; Fabio Rigat; Rino Rappuoli; Vas Narasimhan; Ilkka Julkunen; Arja Vuorela; Outi Vaarala; Hanna Nohynek; Franco Laghi Pasini; Emanuele Montomoli; Claudia Trombetta; Christopher M Adams; Jonathan Rothbard; Lawrence Steinman Journal: Sci Transl Med Date: 2015-07-01 Impact factor: 17.956
Authors: Michel Lecendreux; Giuseppe Plazzi; Yves Dauvilliers; Carol L Rosen; Chad Ruoff; Jed Black; Rupa Parvataneni; Diane Guinta; Y Grace Wang; Emmanuel Mignot Journal: J Clin Sleep Med Date: 2022-09-01 Impact factor: 4.324
Authors: Kiran Maski; Lynn Marie Trotti; Suresh Kotagal; R Robert Auger; Todd J Swick; James A Rowley; Sarah D Hashmi; Nathaniel F Watson Journal: J Clin Sleep Med Date: 2021-09-01 Impact factor: 4.324