Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome.
This study characterizes cardiorespiratory dysregulation in young girls with MECP2 mutation-confirmed Rett syndrome (RS). Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched controls (ages 2-7 y). An in-home breath-to-breath and beat-to-beat characterization was conducted and revealed that breathing was more irregular, with an increased breathing frequency, mean airflow, and heart rate in RS versus controls. There was a decreased correlation between normal breathing and heart rate variability, and an exaggerated increase in heart rate response to breathholds in RS versus controls. We conclude that girls with RS have cardiorespiratory dysregulation during breathholds as well as during "normal" breaths and during breaths before and subsequent to breathholds. This dysregulation may offer insight into the mechanisms that render girls with RS more vulnerable to sudden death.
Weese-Mayer
Debra E
DE
Pediatric Respiratory Medicine, Rush University Medical Center, Chicago, Illinois 60612, USA. Debra_E_Weese-Mayer@rsh.net
Lieske
Steven P
SP
Boothby
Christina M
CM
Kenny
Anna S
AS
Bennett
Heather L
HL
Silvestri
Jean M
JM
Ramirez
Jan-Marino
JM
D001341:Autonomic Nervous System / Q000503:physiopathology*; D016022:Case-Control Studies; D002675:Child, Preschool; D003645:Death, Sudden / Q000209:etiology; D004562:Electrocardiography; D005260:Female; D006339:Heart Rate; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation; D010991:Plethysmography; D012119:Respiration; D015518:Rett Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D014851:Wakefulness
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2