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Related Experiment Videos

Abnormal breathing in the Rett syndrome.

E Lugaresi, F Cirignotta, P Montagna

    Brain & Development
    |January 1, 1985
    PubMed
    Summary

    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.

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    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.

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