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Abnormal breathing in the Rett syndrome
Insights
Rett syndrome impairs breathing during wakefulness, causing irregular breathing and cyanosis in affected girls. Breathing normalizes during sleep, indicating a behavioral control issue specific to active wakefulness.
Area of Science:
- Neurology
- Pediatrics
- Respiratory Medicine
Background:
- Rett syndrome is a rare neurodevelopmental disorder.
- Typically affects girls after a period of normal development.
Observation:
- Patients exhibit stereotyped hand movements and psychomotor regression.
- Severe gait, language loss, and chewing/swallowing difficulties are common.
- Abnormal breathing patterns observed during wakefulness, including apnea and cyanosis.
Findings:
- Breathing abnormalities in Rett syndrome are characterized by irregular, rapid, and arrhythmic respiratory acts during wakefulness.
- Prolonged apneic episodes leading to cyanosis and fainting occur during active wakefulness.
- Respiratory patterns remain regular during NREM and REM sleep stages.
Implications:
- Breathing impairment in Rett syndrome suggests a functional disturbance in the behavioral control of breathing.
- This highlights a specific vulnerability during active wakefulness.
- Further research into the neurobiological mechanisms underlying this breathing control deficit is warranted.
Abstract:
Four girls affected with the Rett syndrome showed stereotyped hand movements and psychomotor regression beginning in the first or second year of life after initially normal development, with total loss of language, a severe gait, and chewing and swallowing disturbances. Breathing during active wakefulness was abnormal, with clusters of arrhythmic, tachypneic and irregular respiratory acts, intermixed with prolonged apneic episodes causing cyanosis and even fainting. On the other hand, breathing was regular during both NREM and REM sleep stages. Breathing impairment in the Rett syndrome is characterized by an inability to maintain normal respiratory patterns during wakefulness, and represents a functional disturbance of the behavioral control of breathing, which occurs during active wakefulness.