Department of Child Neurology and Pediatric Sleep Medicine, Geisinger Commonwealth School of Medicine, Geisinger Medical Center, Janet Weis Children's Hospital, 100 N. Academy Ave, MC 14-05, Danville, PA, 17820, USA.
Department of Sleep Medicine, Pulmonary and Critical Care, Geisinger Wyoming Valley Medical Center, Wilkes-Barre, PA, USA.
CNS Drugs. 2023 Apr;37(4):305-322. doi: 10.1007/s40263-023-00998-6. Epub 2023 Apr 18.
Idiopathic hypersomnia is a chronic neurologic sleep disorder that manifests as excessive daytime sleepiness despite normal or prolonged sleep times for age. Frequently, idiopathic hypersomnia is clinically characterized by marked sleep inertia, long and unrefreshing naps, and a high sleep efficiency. Since the initial description, there has been an ongoing evolution of its nomenclature, approach to diagnosis, characterization of symptoms, and determination of the burden of disease. In addition, an increased attention to and study of its epidemiology, neurobiology, and potential therapeutic strategies has begun to contribute to a better approach to identifying and treating it. At present, idiopathic hypersomnia is considered an orphan disease with unknown frequency and the cause is unknown; however, there is evidence to suggest circadian and sleep structure differences, structural brain changes, and neurochemical changes may contribute to the development and expression of this disease. The approach to treatment can be challenging owing to a limited number of approved treatments (calcium, magnesium, potassium, and sodium oxybates) in idiopathic hypersomnia. However, consideration of therapies shown to improve excessive daytime sleepiness in other disorders is frequently employed. Future directions require a clear consensus on the defining characteristics of idiopathic hypersomnia to enhance the opportunity for improved recognition, diagnosis, and treatment strategies to be established. This article provides a historical review of the evolving diagnostic classification of idiopathic hypersomnia, potential insights to the underlying pathophysiology, and a summary of proposed approaches for diagnosis and therapeutic intervention.
特发性嗜睡症是一种慢性神经睡眠障碍，表现为尽管睡眠时间正常或延长，但白天仍过度困倦。特发性嗜睡症通常在临床上表现为明显的睡眠惯性、长时间且无恢复作用的小睡以及高睡眠效率。自最初描述以来，其命名法、诊断方法、症状特征和疾病负担的确定一直在不断演变。此外，对其流行病学、神经生物学和潜在治疗策略的关注度和研究的增加，也开始有助于更好地确定和治疗这种疾病。目前，特发性嗜睡症被认为是一种罕见疾病，其频率和病因未知；然而，有证据表明昼夜节律和睡眠结构的差异、结构性脑变化和神经化学变化可能导致这种疾病的发生和表现。由于特发性嗜睡症中仅有少数几种经过批准的治疗方法（钙、镁、钾和钠羟丁酸钠），因此治疗方法可能具有挑战性。然而，通常会考虑其他疾病中显示可改善白天过度嗜睡的治疗方法。未来的发展方向需要就特发性嗜睡症的定义特征达成明确共识，以增强改善识别、诊断和治疗策略的机会。本文回顾了特发性嗜睡症的不断演变的诊断分类、潜在的病理生理学见解以及诊断和治疗干预的建议方法。
