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Evolution of sleep disordered breathing in infants with achondroplasia

Janet M Legare1, David G Ingram2, Richard M Pauli3

  • 1University of Wisconsin School of Medicine and Public Health, Madison, WI, USA. jmlegare@pediatrics.wisc.edu.

Sleep & Breathing = Schlaf & Atmung
|January 23, 2025
PubMed

Insights

Sleep disordered breathing (SDB) in infants with achondroplasia (ACH) requires age-adjusted interpretation of polysomnography (PSG) findings. Adenoidectomy improved obstructive sleep apnea, while cervicomedullary decompression improved central sleep apnea.

Area of Science:

  • Pediatric Pulmonology
  • Sleep Medicine
  • Genetics

Background:

  • Achondroplasia (ACH) infants face risks of sudden death from sleep disordered breathing (SDB) and foramen magnum stenosis (FMS).
  • Interpreting sleep studies in infants with ACH presents unique challenges.
  • Baseline polysomnography (PSG) data and the impact of age and surgery are crucial for management.

Purpose of the Study:

  • To describe baseline polysomnography (PSG) indices in infants with achondroplasia (ACH).
  • To analyze the effects of age and surgical interventions on PSG parameters in infants with ACH.
  • To provide data for better interpretation of sleep studies in this population.

Main Methods:

  • Retrospective analysis of 172 PSGs from 86 infants with ACH from the CLARITY ACH database (2008-2017).
  • Extracted obstructive apnea hypopnea index (OAHI) and central apnea index (CAI).
  • Analyzed the influence of age and surgical interventions (adenoidectomy [AD] or cervicomedullary decompression [CMD]).

Main Results:

  • In infants not undergoing surgery, OAHI decreased in the first year then increased in the second; CAI remained stable for two years.
  • No significant differences in initial PSG indices were found between surgically naive infants and those who underwent AD or CMD.
  • OAHI decreased post-AD, and CAI decreased post-CMD.

Conclusions:

  • Sleep study findings in infants with ACH require age-specific interpretation, especially for obstructive indices.
  • Initial PSG indices (OAHI, CAI) did not predict the need for surgery, indicating other clinical factors are key.
  • Adenoidectomy (AD) improved obstructive sleep apnea (OSA), and cervicomedullary decompression (CMD) improved central sleep apnea (CSA) in infants with ACH.
Abstract

Keywords:
AchondroplasiaAdenoidectomyCervicomedullary decompressionInfant polysomnogram

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