Evaluation of sleep-related breathing disorders and polysomnography findings in pediatric patients with achondroplasia.
Sleep-disordered breathing is common in children with achondroplasia, often present even without reported symptoms, and vosoritide treatment did not show a significant impact on apnea-hypopnea index.
Where it sits
this study against the rest of the vosoritide corpusSummary and findings
This study evaluated sleep-disordered breathing in 49 children with achondroplasia during their first polysomnography assessment. The obstructive sleep apnea syndrome was identified in 39 children (79.6%), with 25 (51.0%) classified as having moderate-to-severe disease. Vosoritide treatment did not show a significant difference in total apnea-hypopnea index compared to those not receiving treatment.
Abstract
<h4>Purpose</h4>To describe sleep-disordered breathing in children with achondroplasia at their first polysomnography (PSG) assessment and examine associations with clinical characteristics.<h4>Methods</h4>This retrospective study included 49 children evaluated between March 2016 and February 2025. Obstructive sleep apnea syndrome (OSAS) was classified using the obstructive apnea-hypopnea index (oAHI). Total AHI was compared according to sex, upper airway surgery history, foramen magnum stenosis, and vosoritide treatment. Infant findings were also presented separately because severity thresholds require cautious interpretation at this age.<h4>Results</h4>Median age was 4.48 years (range, 0.22-16.15). OSAS was identified in 39 children (79.6%); 25 (51.0%) met the study criteria for moderate-to-severe disease. Of 15 children without reported sleep-related symptoms, 12 (80.0%) had OSAS, including seven (46.7%) with moderate-to-severe disease. Three children had a central apnea index ≥ 5 events/hour, and two (4.1%) had nocturnal hypoventilation. Total AHI did not differ significantly by sex, surgery history, or foramen magnum stenosis. Median total AHI was 3.2 events/hour in children receiving vosoritide and 6.9 in those not receiving treatment (p = 0.105).<h4>Conclusion</h4>OSAS was common at the first PSG assessment and was also found in children without reported symptoms. These findings support objective sleep assessment in achondroplasia. The retrospective design and age-dependent interpretation of infant PSG limit conclusions about prevalence and severity; the study cannot establish a respiratory effect of vosoritide.<h4>What is known</h4>• Achondroplasia increases the risk of obstructive and central sleep apnea. • Reported symptoms may not reliably identify sleep-disordered breathing.<h4>What is new</h4>• At first PSG, 12/15 children without reported symptoms had OSAS; 7 had moderate-to-severe disease. • Total AHI did not differ significantly by vosoritide treatment status.
Background
This paper addresses the prevalence of sleep-related breathing disorders in children with achondroplasia, a condition known to increase the risk of obstructive and central sleep apnea. Prior knowledge indicated that reported symptoms may not reliably identify sleep-disordered breathing. Understanding the prevalence and characteristics of these disorders is crucial for improving clinical assessments and interventions.
Methods
This retrospective study included 49 children evaluated between March 2016 and February 2025. The obstructive sleep apnea syndrome was classified using the obstructive apnea-hypopnea index (oAHI). Comparisons were made based on sex, history of upper airway surgery, foramen magnum stenosis, and vosoritide treatment.
Results
OSAS was identified in 39 children (79.6%); 25 (51.0%) met the study criteria for moderate-to-severe disease. Median total AHI was 3.2 events/hour in children receiving vosoritide and 6.9 in those not receiving treatment (p=0.105).
Interpretation
The findings indicate a high prevalence of OSAS in children with achondroplasia, including those without reported symptoms. The lack of significant difference in total AHI between treatment groups suggests that vosoritide may not have a respiratory effect. The small sample size and retrospective design limit the ability to draw firm conclusions about the impact of treatment on sleep-disordered breathing.
Key findings
- Median age was 4.48 years (range, 0.22-16.15).
- OSAS was identified in 39 children (79.6%); 25 (51.0%) met the study criteria for moderate-to-severe disease.
- Of 15 children without reported sleep-related symptoms, 12 (80.0%) had OSAS, including seven (46.7%) with moderate-to-severe disease.
- Median total AHI was 3.2 events/hour in children receiving vosoritide and 6.9 in those not receiving treatment (p=0.105).
Limitations
- retrospective design
- small sample size (n=49)
- age-dependent interpretation of PSG results
- cannot establish a respiratory effect of vosoritide