Does the supplementary motor area keep patients with Ondine's curse syndrome breathing while awake?
Lysandre Tremoureux,Mathieu Raux,Anna L. Hudson,Anja Ranohavimparany,Christian Straus,Thomas Similowski +5 more
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TLDR
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.Abstract:
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.read more
Citations
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ERS statement on respiratory muscle testing at rest and during exercise
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TL;DR: This ERS task force summarises the most recent scientific and methodological developments regarding respiratory mechanics and respiratory muscle assessment by addressing the validity, precision, reproducibility, prognostic value and responsiveness to interventions of various methods.
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Cortical drive to breathe in amyotrophic lateral sclerosis: a dyspnoea-worsening defence?
Marjolaine Georges,Elise Morawiec,Mathieu Raux,Jésus Gonzalez-Bermejo,Pierre-François Pradat,Thomas Similowski,Capucine Morélot-Panzini +6 more
TL;DR: It is hypothesised that ALS patients with respiratory failure exhibit respiratory-related cortical activity, relieved by noninvasive ventilation (NIV) and related to dyspnoea, which might reflect a compensatory mechanism, with the intensity of dysPNoea a negative consequence.
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When Breathing Interferes with Cognition: Experimental Inspiratory Loading Alters Timed Up-and-Go Test in Normal Humans.
Marie-Cécile Niérat,Suela Demiri,Elise Dupuis-Lozeron,Gilles Allali,Gilles Allali,Capucine Morélot-Panzini,Thomas Similowski,Dan Adler +7 more
TL;DR: It is inferred that competition for cortical resources may account for the breathing-cognition interference that is evidenced here.
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Interferences between breathing, experimental dyspnoea and bodily self-consciousness.
Etienne Allard,Etienne Allard,Elisa Canzoneri,Dan Adler,Capucine Morélot-Panzini,Javier Bello-Ruiz,Bruno Herbelin,Olaf Blanke,Olaf Blanke,Thomas Similowski,Thomas Similowski +10 more
TL;DR: This study replicates and reinforces previous studies about the integration of interoceptive and exteroceptive signals in the construction of bodily self-consciousness and confirms the existence of interferences between experimental dysPNoea and cognitive functions and suggests that respiratory-visual stimulation should be tested as a non-pharmacological approach of dyspnoea treatment.
Journal ArticleDOI
Breathing and sense of self: visuo-respiratory conflicts alter body self-consciousness.
TL;DR: It is concluded that breathing modulates bodily self-consciousness and that one can induce the irruption of unattended breathing into consciousness without modifying respiratory mechanics or gas exchange.
References
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Debra E. Weese-Mayer,Elizabeth Berry-Kravis,Isabella Ceccherini,Thomas G. Keens,Darius A. Loghmanee,Ha Trang +5 more
TL;DR: The importance of PHOX2B testing in diagnosing and treating patients with CCHS is demonstrated and a review of pertinent literature allowed for the development of a document that summarizes recent advances in understanding CCHs and expert interpretation of the evidence for management of affected patients.
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A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons
Véronique Dubreuil,Nelina Ramanantsoa,Delphine Trochet,Vanessa Vaubourg,Jeanne Amiel,Jorge Gallego,Jean-François Brunet,Christo Goridis +7 more
TL;DR: It is shown that mice bearing a mutation in Phox2b that causes congenital central hypoventilation syndrome in humans breathe irregularly, do not respond to an increase in CO2, and die soon after birth from central apnea.
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