Sanjeev V Kothare1, Joseph Kaleyias. 1. Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Sleep Center for Children, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. sanjeev.kothare@childrens.harvard.edu
Abstract
PURPOSE OF REVIEW: We provide an update on the pathogenesis, diagnosis, assessment (clinical and laboratory), and treatment options for children with narcolepsy and other hypersomnias of central origin in order to raise awareness of these diseases and to highlight the clinical findings that should make the pediatrician suspect the diagnosis. RECENT FINDINGS: Narcolepsy is a chronic rapid eye movement sleep disorder. Accumulating evidence indicates that signs of narcolepsy may start during childhood. Recent data suggest that a deficiency in the hypothalamic orexin/hypocretin system underlies the pathogenesis of narcolepsy with cataplexy. Confirmatory tests such as polysomnography, multiple sleep latency test, and actigraphy, along with referral to a sleep physician, maybe necessary in appropriate cases. Laboratory tests such as human leukocyte antigen typing and cerebrospinal fluid hypocretin-1 analysis are useful as adjuncts. Modafinil is now considered the first-line treatment for excessive sleepiness in adult patients with narcolepsy. Sodium oxybate is currently approved by the Food and Drug Administration for the treatment of narcolepsy with cataplexy in patients aged more than 16 years. SUMMARY: Awareness of the extent of hypersomnia in children will allow physicians to effectively screen every child; once identified, further assessment should be performed in order to diagnose and treat the underlying cause. Better understanding of pathogenesis, availability of newer therapies with different mechanism of effect, and appropriately designed randomized clinical trials should allow improved management of children with narcolepsy.
PURPOSE OF REVIEW: We provide an update on the pathogenesis, diagnosis, assessment (clinical and laboratory), and treatment options for children with narcolepsy and other hypersomnias of central origin in order to raise awareness of these diseases and to highlight the clinical findings that should make the pediatrician suspect the diagnosis. RECENT FINDINGS:Narcolepsy is a chronic rapid eye movement sleep disorder. Accumulating evidence indicates that signs of narcolepsy may start during childhood. Recent data suggest that a deficiency in the hypothalamic orexin/hypocretin system underlies the pathogenesis of narcolepsy with cataplexy. Confirmatory tests such as polysomnography, multiple sleep latency test, and actigraphy, along with referral to a sleep physician, maybe necessary in appropriate cases. Laboratory tests such as human leukocyte antigen typing and cerebrospinal fluid hypocretin-1 analysis are useful as adjuncts. Modafinil is now considered the first-line treatment for excessive sleepiness in adult patients with narcolepsy. Sodium oxybate is currently approved by the Food and Drug Administration for the treatment of narcolepsy with cataplexy in patients aged more than 16 years. SUMMARY: Awareness of the extent of hypersomnia in children will allow physicians to effectively screen every child; once identified, further assessment should be performed in order to diagnose and treat the underlying cause. Better understanding of pathogenesis, availability of newer therapies with different mechanism of effect, and appropriately designed randomized clinical trials should allow improved management of children with narcolepsy.