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Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder.
P O Julu1, A M Kerr, F Apartopoulos
1Peripheral Nerve and Autonomic Unit, Department of Neurology, Imperial College of Science, Technology and Medicine, Central Middlesex Hospital, Acton Lane, London NW10 7NS, UK. julu@udcf.gla.ac.uk
Archives of Disease in Childhood
|June 23, 2001
Summary
Breathing rhythms in Rett disorder are abnormal when awake, unlike during sleep. Autonomic dysfunction and breathing irregularities may be linked to brain immaturity and sudden death risk.
Area of Science:
- Neuroscience
- Autonomic Physiology
- Pediatric Neurology
Background:
- Rett disorder is a rare neurodevelopmental condition affecting brain stem autonomic control.
- Understanding breathing patterns and autonomic function is crucial for managing Rett disorder.
Purpose of the Study:
- To investigate breathing rhythm and brain stem autonomic control in patients with Rett disorder.
- To correlate breathing abnormalities with clinical features and potential underlying mechanisms.
Main Methods:
- Studied 56 female patients with Rett disorder and 11 controls.
- Recorded breathing, blood pressure, ECG, blood gases, and autonomic function over one hour.
- Analyzed breathing rhythms, cardiac vagal tone, and baroreflex sensitivity.
Main Results:
- Respiratory rhythm was normal during sleep but abnormal when awake.
- Specific breathing patterns (forced, apneustic, Valsalva) varied by age group.
- Inadequate and exaggerated breathing correlated with vacant spells.
- Reduced resting cardiac vagal tone and baroreflex sensitivity were observed.
Conclusions:
- Labile respiratory rhythms suggest brain immaturity in Rett disorder.
- Findings point to potential targets for clinical intervention related to the MECP2 gene.
- Autonomic dysregulation may increase the risk of sudden death.