The pathophysiology of rett syndrome with a focus on breathing dysfunctions
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Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated disturbances in the genetic and homeostatic regulation of central and peripheral neuronal networks, redox state, and control of inflammation. Characteristic breath-holds, obstructive sleep apnea, and aerophagia result in intermittent hypoxia, which, combined with mitochondrial dysfunction, causes oxidative stress-an important driver of the clinical presentation of RTT.
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Autonomic dysregulation, Breathing, Dysphagia, Oxidative stress
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Inglês
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Physiology, v. 35, n. 6, p. 375-390, 2020.
