Key points:

  1. Prevalence and Onset:

    • Sleep problems affect 70–80% of individuals with RTT, with onset becoming evident between 18 months and 2 years.
    • Sleep disturbances in RTT are significantly more common than in typically developing children.

  2. Sleep Patterns:

    • Individuals with RTT often exhibit prolonged daytime naps and reduced night-time sleep.
    • Sleep issues include insomnia, frequent night awakenings, irregular sleep‒wake cycles, and circadian rhythm disturbances.
    • Night-time laughter, parasomnias, and nocturnal seizures are notable, with patterns influenced by the type of MECP2 mutation.

  3. Sleep Architecture:

    • Abnormalities in both REM and NREM sleep are seen.
    • EEG characteristics include slowing, epileptiform activity, and loss of sleep spindles and K-complexes after 2 years of age.

  4. Impact on Families:

    • Sleep problems disrupt not only the individual but also their families and caregivers, necessitating multidisciplinary support.

  5. Pathophysiology:

    • Dysfunction in aminergic neurons, particularly the raphe nuclei and locus coeruleus, underpins the sleep‒wake rhythm disturbances.
    • Autonomic dysregulation contributes to respiratory issues like apnea, bradycardia, and hypoventilation during sleep.

Evaluation of Sleep Problems in RTT:

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