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Updated: Dec 6, 2025

Investigation into Deep Breathing through Measurement of Ventilatory Parameters and Observation of Breathing Patterns
Published on: September 16, 2019
The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions
Jan-Marino Ramirez1,2, Marlusa Karlen-Amarante1,3, Jia-Der Ju Wang1
1Center for Integrative Brain Research, Seattle Children's Research Institute, University of Washington School of Medicine, Seattle, Washington.
Abstract:
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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