Autor(es): Ramirez, Jan-Marino ; Karlen-Amarante, Marlusa [UNESP] ; Wang, Jia-Der Ju ; Bush, Nicholas E. ; Carroll, Michael S. ; Weese-Mayer, Debra E. ; Huff, Alyssa
Data: 2021
Identificador Persistente: http://hdl.handle.net/11449/206700
Origem: Oasisbr
Assunto(s): Autonomic dysregulation; Breathing; Dysphagia; Oxidative stress
Made available in DSpace on 2021-06-25T10:36:44Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-11-01
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.
Center for Integrative Brain Research Seattle Children’s Research Institute University of Washington School of Medicine
Departments of Neurological Surgery and Pediatrics University of Washington School of Medicine
Department of Physiology and Pathology School of Dentistry of Araraquara São Paulo State University (UNESP)
Ann & Robert H. Lurie Children’s Hospital of Chicago
Department of Pediatrics Northwestern University Feinberg School of Medicine
Division of Autonomic Medicine Ann & Robert H. Lurie Children’s Hospital of Chicago
Department of Physiology and Pathology School of Dentistry of Araraquara São Paulo State University (UNESP)
