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Sleep Respiratory Disturbances in Girls with Rett Syndrome.

Xinyan Zhang1, Marcel Smits2, Leopold Curfs3

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|October 27, 2022
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Disordered breathing during sleep, specifically obstructive sleep apnea, is common in Rett Syndrome (RTT) and occurs independently of clinical features. This condition leads to hypoxemia throughout sleep in RTT patients.

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MECP2Rett Syndromepolysomnographysleep-disordered breathing

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Area of Science:

  • Neurology
  • Sleep Medicine
  • Genetics

Background:

  • Rett Syndrome (RTT) is a rare neurodevelopmental disorder.
  • Disordered breathing during wakefulness is a known feature of RTT.
  • Breathing patterns during sleep in RTT patients are not well understood, with conflicting reports.

Purpose of the Study:

  • To investigate sleep-disordered breathing (SDB) in Rett Syndrome.
  • To explore the relationship between SDB and clinical features, genetics, age, and sleep phase in RTT.
  • To determine if SDB is an independent clinical feature in RTT.

Main Methods:

  • Overnight polysomnography (PSG) was conducted on 11 female RTT subjects.
  • Sleep macrostructure, respiratory indexes (AHI), and oxygen saturation (SpO2) were analyzed.
  • Statistical analyses included comparisons between groups and correlation with age and clinical features.

Main Results:

  • Over 70% of RTT subjects exhibited obstructive sleep apnea (OSA).
  • OSA was present in both REM and NREM sleep and was unrelated to clinical features or age.
  • Significant hypoxemia was observed throughout nocturnal sleep in RTT patients.

Conclusions:

  • Disordered breathing during sleep, particularly OSA, is prevalent in RTT.
  • Sleep-disordered breathing appears to be an independent clinical feature in Rett Syndrome.
  • Hypoxemia during sleep is a significant concern in RTT patients.