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Sleep-Disordered Breathing in Pediatric Patients With Rett Syndrome

Kathleen M Sarber1, Javier J M Howard2, Thomas J Dye1,3,4

  • 1Cincinnati Children's Hospital Medical Center, Division of Pulmonary and Sleep Medicine, Cincinnati, Ohio.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|October 10, 2019
PubMed

Insights

Patients with Rett syndrome often experience sleep-disordered breathing (SDB), including obstructive sleep apnea (OSA). Snoring and witnessed apneas are common symptoms, requiring further investigation into causes and treatments.

Area of Science:

  • Neurology
  • Pediatrics
  • Sleep Medicine

Background:

  • Rett syndrome (RS) is often associated with respiratory abnormalities during wakefulness.
  • Sleep-disordered breathing (SDB) in RS patients is less understood.
  • Characterizing SDB in RS is crucial for improving patient care.

Purpose of the Study:

  • To investigate the clinical presentation of SDB in pediatric patients with Rett syndrome.
  • To determine the types and severity of SDB in this population.
  • To review treatment strategies employed for SDB in RS.

Main Methods:

  • Retrospective chart review of pediatric RS patients.
  • Data collected from January 2007 to July 2017.
  • Analysis of polysomnography (PSG) findings and treatment outcomes.

Main Results:

  • Thirteen pediatric RS patients with sleep concerns were identified.
  • Common symptoms included snoring (77%) and witnessed apneas (53.8%).
  • Obstructive sleep apnea (OSA) was prevalent (69.2%), with four cases of severe OSA. All patients showed hyperapneas and central apneas during wakefulness.

Conclusions:

  • Snoring and witnessed apneas are key indicators of SDB in RS patients presenting to sleep clinics.
  • Obstructive sleep apnea (OSA) is a significant comorbidity in Rett syndrome.
  • Further research is needed to understand OSA pathogenesis and genotype-phenotype correlations in RS respiratory abnormalities.
Abstract

Keywords:
Rett syndromecentral sleep apneaobstructive sleep apneapediatricspolysomnographyprimary snoringsleep-disordered breathing

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