Abstract Introduction Achondroplasia is the most common skeletal dysplasia. Children with achondroplasia are at risk for sleep-disordered breathing (SDB) throughout infancy and childhood. Polysomnogram (PSG) is recommended in infancy and as-indicated clinically during childhood to screen for and manage SDB. The prevalence and progression of SDB and treatment strategies used over time are not well-described. Methods This IRB-approved, retrospective study describes polysomnogram results and treatment in a cohort of children with achondroplasia from 0-60 months managed from 2010-2025 at a pediatric referral center. All PSG were completed in an AASM-accredited laboratory at a single center; patients were included if baseline study was completed 12 months of age. Clinical data, PSG results, and treatment strategies were obtained via chart review. Descriptive statistics were used to analyze results and compare treatment strategies by age. Results 74 patients (53% male, 81% white) met inclusion criteria. In the 0-6 month range, 85% had SDB with mean AHI 21.4(21.0), SpO2 nadir 83.9(6.8)%, 2.7% with hypoventilation and most common treatments of watchful waiting (41%) and low-flow oxygen (31%). In the 7-12 month range, 74% with SDB with mean AHI 17.3(20.2), SpO2 nadir 80.7(11)%, 9.5% with hypoventilation and most common treatments of watchful waiting (48%) and medical therapy (14%). In the 13-36 month range, 80% had SDB with mean AHI 20.6(20.5), SpO2 nadir 82.0(12.5)%, 21.4% with hypoventilation and most common treatments of watchful waiting (43%) and ENT surgery (14%). In the 37-60 month range, 76% had SDB with mean AHI 14.8(17.1), SpO2 nadir 85.2(5.7)%, 35.3% with hypoventilation and most common treatments of watchful waiting (58%) and positive pressure therapy (21%). Conclusion SDB was highly prevalent in this cohort of children with achondroplasia, predominantly OSAHS, with differences in OSAHS severity, ventilation, and treatment strategies by age. Although this cohort of referred children represents a population more likely to have SDB, repeat PSGs should be considered over time to evaluate for and manage SDB. Support (if any) None
Belej et al. (Fri,) studied this question.