Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with rett syndrome

Debra E. Weese-Mayer*, Steven P. Lieske, Christina M. Boothby, Anna S. Kenny, Heather L. Bennett, Jean M. Silvestri, Jan Marino Ramirez

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

116 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)443-449
Number of pages7
JournalPediatric research
Volume60
Issue number4
DOIs
StatePublished - Oct 2006

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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