Late Diagnosis and Quality of Life Impact of Central Hypersomnia Disorders

Abstract

Introduction: Despite the increasing investigation, diagnosis of central disorders of hypersomnolence remains a clinical challenge and an under-estimated pathology. This study aimed to evaluate the diagnostic delay and clinical trajectory of individuals with primary central hypersomnia, assessing its possible implications on their quality of life. Methods: Retrospective case-control study on patients under the care of the Sleep Department of Neurology at a tertiary Portuguese hospital with hypersomnolence disorders not associated with another illness or substance. Demographic and clinical data from medical records were collected and a questionnaire was presented to participants to assess their perspectives on diagnostic path and current disease management. Instruments approved for Portuguese population as WHOQOL-Bref and HADS questionnaire were applied to evaluate their quality of life and levels of depression/anxiety. Results: A total of 20 patients with central disorders of hypersomnolence diagnose was evaluated with an average age of 41,0 years. Median diagnostic delay was 11 [4-20.75] years in total. Patients with narcolepsy type 1 presented the shortest diagnostic delay with a median of 7 [3-18] years. Time until diagnosis was perceived as longer than expected in 40% of patients. Only 15% of patients considered their excessive daytime sleepiness and/or other related symptoms controlled after therapeutic onset . When compared to the control group (n=20), the central disorder of hypersomnolence group showed a lower assessment regarding physical (central disorder of hypersomnolence group: 61.43 vs control: 82.62, p<0.001) and psychological health domains (central disorder of hypersomnolence group: 62.71 vs control: 93.33, p<0.001). Conclusion: Timely diagnosis and management of central disorders of hypersomnolence patients remains challenging, especially in patients with narcolepsy type 2 and idiopathic hypersomnia. The difficulty in controlling symptoms may significantly impact the quality of life of patients, affecting all domains assessed in the WHOQOL-Bref: physical, psychological, environmental and interpersonal relationships.