SORA

Advancing, promoting and sharing knowledge of health through excellence in teaching, clinical practice and research into the prevention and treatment of illness

Clinical and polysomnographic course of childhood narcolepsy with cataplexy.

Pizza, F; Franceschini, C; Peltola, H; Vandi, S; Finotti, E; Ingravallo, F; Nobili, L; Bruni, O; Lin, L; Edwards, MJ; et al. Pizza, F; Franceschini, C; Peltola, H; Vandi, S; Finotti, E; Ingravallo, F; Nobili, L; Bruni, O; Lin, L; Edwards, MJ; Partinen, M; Dauvilliers, Y; Mignot, E; Bhatia, KP; Plazzi, G (2013) Clinical and polysomnographic course of childhood narcolepsy with cataplexy. Brain, 136 (12). pp. 3787-3795. ISSN 1460-2156 https://doi.org/10.1093/brain/awt277
SGUL Authors: Edwards, Mark John James

[img]
Preview
PDF Published Version
Available under License Creative Commons Attribution Non-commercial.

Download (327kB) | Preview

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.

Item Type: Article
Additional Information: © The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
Keywords: cataplexy, children, narcolepsy, sleep, sleepiness, Adolescent, Body Mass Index, Child, Female, Hospitalization, Humans, Intracellular Signaling Peptides and Proteins, Longitudinal Studies, Male, Narcolepsy, Neuropeptides, Orexins, Polysomnography, Retrospective Studies, Streptococcal Infections, Video Recording, Humans, Streptococcal Infections, Narcolepsy, Intracellular Signaling Peptides and Proteins, Neuropeptides, Polysomnography, Body Mass Index, Hospitalization, Retrospective Studies, Longitudinal Studies, Video Recording, Adolescent, Child, Female, Male, children, narcolepsy, cataplexy, sleep, sleepiness, Neurology & Neurosurgery, 11 Medical And Health Sciences, 17 Psychology And Cognitive Sciences
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Neuroscience (INCCNS)
Journal or Publication Title: Brain
ISSN: 1460-2156
Language: eng
Dates:
DateEvent
December 2013Published
18 October 2013Published Online
7 August 2013Accepted
Publisher License: Creative Commons: Attribution-Noncommercial 3.0
PubMed ID: 24142146
Web of Science ID: WOS:000328366000027
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/109511
Publisher's version: https://doi.org/10.1093/brain/awt277

Actions (login required)

Edit Item Edit Item