The pathophysiology of rett syndrome with a focus on breathing dysfunctions

Jan Marino Ramirez*, Marlusa Karlen-Amarante, Jia Der Ju Wang, Nicholas E. Bush, Michael S. Carroll, Debra E. Weese-Mayer, Alyssa Huff

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)375-390
Number of pages16
Issue number6
StatePublished - Nov 2020


  • Autonomic dysregulation
  • Breathing
  • Dysphagia
  • Oxidative stress

ASJC Scopus subject areas

  • Physiology


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