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Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake?
BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare neuro-respiratory disorder associated with mutations of the PHOX2B gene. Patients with this disease experience severe hypoventilation during sleep and are consequently ventilator-dependent. However, they breathe almost normally...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901646/ https://www.ncbi.nlm.nih.gov/pubmed/24475031 http://dx.doi.org/10.1371/journal.pone.0084534 |
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author | Tremoureux, Lysandre Raux, Mathieu Hudson, Anna L. Ranohavimparany, Anja Straus, Christian Similowski, Thomas |
author_facet | Tremoureux, Lysandre Raux, Mathieu Hudson, Anna L. Ranohavimparany, Anja Straus, Christian Similowski, Thomas |
author_sort | Tremoureux, Lysandre |
collection | PubMed |
description | BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare neuro-respiratory disorder associated with mutations of the PHOX2B gene. Patients with this disease experience severe hypoventilation during sleep and are consequently ventilator-dependent. However, they breathe almost normally while awake, indicating the existence of cortical mechanisms compensating for the deficient brainstem generation of automatic breathing. Current evidence indicates that the supplementary motor area plays an important role in modulating ventilation in awake normal humans. We hypothesized that the wake-related maintenance of spontaneous breathing in patients with CCHS could involve supplementary motor area. METHODS: We studied 7 CCHS patients (5 women; age: 20–30; BMI: 22.1±4 kg.m(−2)) during resting breathing and during exposure to carbon dioxide and inspiratory mechanical constraints. They were compared with 8 healthy individuals. Segments of electroencephalographic tracings were selected according to ventilatory flow signal, from 2.5 seconds to 1.5 seconds after the onset of inspiration. After artefact rejection, 80 or more such segments were ensemble averaged. A slow upward shift of the EEG signal starting between 2 and 0.5 s before inspiration (pre-inspiratory potential) was considered suggestive of supplementary motor area activation. RESULTS: In the control group, pre-inspiratory potentials were generally absent during resting breathing and carbon dioxide stimulation, and consistently identified in the presence of inspiratory constraints (expected). In CCHS patients, pre-inspiratory potentials were systematically identified in all study conditions, including resting breathing. They were therefore significantly more frequent than in controls. CONCLUSIONS: This study provides a neurophysiological substrate to the wakefulness drive to breathe that is characteristic of CCHS and suggests that the supplementary motor area contributes to this phenomenon. Whether or not this “cortical breathing” can be taken advantage of therapeutically, or has clinical consequences (like competition with attentional resources) remains to be determined. |
format | Online Article Text |
id | pubmed-3901646 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-39016462014-01-28 Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? Tremoureux, Lysandre Raux, Mathieu Hudson, Anna L. Ranohavimparany, Anja Straus, Christian Similowski, Thomas PLoS One Research Article BACKGROUND: Congenital central hypoventilation syndrome (CCHS) is a rare neuro-respiratory disorder associated with mutations of the PHOX2B gene. Patients with this disease experience severe hypoventilation during sleep and are consequently ventilator-dependent. However, they breathe almost normally while awake, indicating the existence of cortical mechanisms compensating for the deficient brainstem generation of automatic breathing. Current evidence indicates that the supplementary motor area plays an important role in modulating ventilation in awake normal humans. We hypothesized that the wake-related maintenance of spontaneous breathing in patients with CCHS could involve supplementary motor area. METHODS: We studied 7 CCHS patients (5 women; age: 20–30; BMI: 22.1±4 kg.m(−2)) during resting breathing and during exposure to carbon dioxide and inspiratory mechanical constraints. They were compared with 8 healthy individuals. Segments of electroencephalographic tracings were selected according to ventilatory flow signal, from 2.5 seconds to 1.5 seconds after the onset of inspiration. After artefact rejection, 80 or more such segments were ensemble averaged. A slow upward shift of the EEG signal starting between 2 and 0.5 s before inspiration (pre-inspiratory potential) was considered suggestive of supplementary motor area activation. RESULTS: In the control group, pre-inspiratory potentials were generally absent during resting breathing and carbon dioxide stimulation, and consistently identified in the presence of inspiratory constraints (expected). In CCHS patients, pre-inspiratory potentials were systematically identified in all study conditions, including resting breathing. They were therefore significantly more frequent than in controls. CONCLUSIONS: This study provides a neurophysiological substrate to the wakefulness drive to breathe that is characteristic of CCHS and suggests that the supplementary motor area contributes to this phenomenon. Whether or not this “cortical breathing” can be taken advantage of therapeutically, or has clinical consequences (like competition with attentional resources) remains to be determined. Public Library of Science 2014-01-24 /pmc/articles/PMC3901646/ /pubmed/24475031 http://dx.doi.org/10.1371/journal.pone.0084534 Text en © 2014 Tremoureux et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Tremoureux, Lysandre Raux, Mathieu Hudson, Anna L. Ranohavimparany, Anja Straus, Christian Similowski, Thomas Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? |
title | Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? |
title_full | Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? |
title_fullStr | Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? |
title_full_unstemmed | Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? |
title_short | Does the Supplementary Motor Area Keep Patients with Ondine's Curse Syndrome Breathing While Awake? |
title_sort | does the supplementary motor area keep patients with ondine's curse syndrome breathing while awake? |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901646/ https://www.ncbi.nlm.nih.gov/pubmed/24475031 http://dx.doi.org/10.1371/journal.pone.0084534 |
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