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Sleep-disordered breathing in children with achondroplasia assessed by polysomnography: a retrospective chart review

Louise Hove Buciek1,2, Jeppe Ravn Jacobsen1,2, Supriya Raj1

  • 1Murdoch Children's Research Institute, Parkville, Victoria, Australia.

Archives of Disease in Childhood
|July 17, 2025
PubMed

Insights

Sleep-disordered breathing affects 85% of children with achondroplasia, often without symptoms. Precision therapies showed improvement in respiratory parameters after one year.

Area of Science:

  • Pediatric Endocrinology
  • Sleep Medicine
  • Genetics

Background:

  • Sleep-disordered breathing (SDB) is a significant complication in children with achondroplasia.
  • Early identification and management of SDB are crucial for improving health outcomes in this population.

Purpose of the Study:

  • To determine the prevalence of SDB in children with achondroplasia using polysomnography.
  • To investigate the correlation between SDB severity and foramen magnum stenosis.
  • To evaluate the impact of precision therapies on respiratory parameters in children with achondroplasia.

Main Methods:

  • Retrospective review of polysomnography data from 80 children (0-18 years) with achondroplasia at The Royal Children's Hospital, Australia (2013-2024).
  • Analysis of sleep-disordered breathing subtypes, including obstructive sleep apnoea (OSA), central sleep apnoea (CSA), and primary snoring.
  • Correlation analysis between SDB severity and foramen magnum stenosis using MRI data; assessment of treatment effects of precision therapies (vosoritide, infigratinib, recifercept) on respiratory indices.

Main Results:

  • SDB was diagnosed in 85% of the cohort, with 21% being asymptomatic.
  • Obstructive sleep apnoea was the most common subtype (81%), with 58% of OSA/mixed cases being moderate to severe.
  • No significant correlation was found between SDB severity and foramen magnum stenosis (ρ=0.03).
  • Children treated with precision therapies showed a median improvement in respiratory disturbance index from 2.7 to 1.1 after one year.

Conclusions:

  • High prevalence of SDB in children with achondroplasia, emphasizing the need for routine screening.
  • Foramen magnum stenosis severity does not correlate with SDB severity in this cohort.
  • Precision therapies demonstrate potential in improving respiratory parameters in children with achondroplasia experiencing SDB.
Abstract

Keywords:
Data CollectionPaediatricsRespiratory MedicineSleepTherapeutics

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