title: Clinical and polysomnographic course of childhood narcolepsy with cataplexy.
abstract: Our aim was to investigate the natural evolution of cataplexy and polysomnographic features in untreated children with narcolepsy with cataplexy. To this end, clinical, polysomnographic, and cataplexy-video assessments were performed at diagnosis (mean age of 10 ± 3 and disease duration of 1 ± 1 years) and after a median follow-up of 3 years from symptom onset (mean age of 12 ± 4 years) in 21 children with narcolepsy with cataplexy and hypocretin 1 deficiency (tested in 19 subjects). Video assessment was also performed in two control groups matched for age and sex at first evaluation and follow-up and was blindly scored for presence of hypotonic (negative) and active movements. Patients' data at diagnosis and at follow-up were contrasted, compared with controls, and related with age and disease duration. At diagnosis children with narcolepsy with cataplexy showed an increase of sleep time during the 24 h; at follow-up sleep time and nocturnal sleep latency shortened, in the absence of other polysomnographic or clinical (including body mass index) changes. Hypotonic phenomena and selected facial movements decreased over time and, tested against disease duration and age, appeared as age-dependent. At onset, childhood narcolepsy with cataplexy is characterized by an abrupt increase of total sleep over the 24 h, generalized hypotonia and motor overactivity. With time, the picture of cataplexy evolves into classic presentation (i.e., brief muscle weakness episodes triggered by emotions), whereas total sleep time across the 24 h decreases, returning to more age-appropriate levels.
authors.affiliation: 1 Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Pizza
authors.forename: Christian
authors.initials: C
authors.lastname: Franceschini
authors.forename: Hanna
authors.initials: H
authors.lastname: Peltola
authors.forename: Stefano
authors.initials: S
authors.lastname: Vandi
authors.forename: Elena
authors.initials: E
authors.lastname: Finotti
authors.forename: Francesca
authors.initials: F
authors.lastname: Ingravallo
authors.forename: Lino
authors.initials: L
authors.lastname: Nobili
authors.forename: Oliviero
authors.initials: O
authors.lastname: Bruni
authors.forename: Ling
authors.initials: L
authors.lastname: Lin
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Edwards
authors.forename: Markku
authors.initials: M
authors.lastname: Partinen
authors.forename: Yves
authors.initials: Y
authors.lastname: Dauvilliers
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Mignot
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Plazzi
mesh_terms: D000293:Adolescent; D015992:Body Mass Index; D002648:Child; D005260:Female; D006760:Hospitalization; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000172:deficiency; D008137:Longitudinal Studies; D008297:Male; D009290:Narcolepsy / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology* / Q000628:therapy; D009479:Neuropeptides / Q000172:deficiency; D000068797:Orexins; D017286:Polysomnography; D012189:Retrospective Studies; D013290:Streptococcal Infections / Q000150:complications; D014741:Video Recording
chemical_list: C000596229:HCRT protein, human; D047908:Intracellular Signaling Peptides and Proteins; D009479:Neuropeptides; D000068797:Orexins
keywords: cataplexy; children; narcolepsy; sleep; sleepiness