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Background: Disorders of sleep-wake stability have a negative impact on patient and caregiver quality of life. There is evidence that sleep disorders and their sequelae may be an underrecognized burden for people living with rare diseases. Given that the sleep-wake cycle is regulated via the hypothalamus, people with neurological disorders may be particularly affected. To collect real-world insights into the impact of sleep disturbances and excessive daytime sleepiness (EDS) on people with rare disorders, Harmony Biosciences organized a Summit on Sleep Disruption. The attendees were from seven patient advocacy groups, each representing a rare neurological disorder reporting sleep disturbances, specifically EDS: Angelman syndrome, idiopathic hypersomnia, Kleine-Levin syndrome, myotonic dystrophy, narcolepsy, Prader-Willi syndrome, and Smith-Magenis syndrome. One person represented COMBINEDBrain, a patient advocacy consortium representing 25 rare, genetic neurological disorders. Results: The overwhelming response was that disordered sleep, particularly EDS, is a major health problem within their populations that they feel is not adequately diagnosed or treated. Participants felt that burdens associated with sleep disturbances were underrecognized as a treatable medical issue and were not effectively addressed by health care providers. Participants noted the following unmet needs: patient and physician education on sleep disturbance, effective medications approved for these disease populations, and medically acceptable patient-centered devices to measure sleep parameters. Participants described impacts of disordered sleep and EDS on behavior and school performance, describing impaired wakefulness as an interference with normal daytime functioning. Participants also revealed tremendous burdens on the caregivers and family members who live with people experiencing sleep-wake instability. Conclusions: These results provide real-world insights that disordered sleep including EDS and subsequent impaired daytime functioning are major burdens in these rare disease communities. Furthermore, these burdens are underrecognized for caregivers and, for some rare diseases, among the patients themselves. Participants identified gaps in knowledge and treatment of sleep disorders and resolved to continue the dialog to find ways to raise awareness of disordered sleep and reduce burdens in these patient populations. |
