Characteristics of sleep disordered breathing in children with achondroplasia

Purpose: We aimed to evaluate the characteristics of sleep disordered breathing (SDB) in a cohort of pediatric patients with achondroplasia and to describe magnetic resonance imaging (MRI) findings and management strategies. Methods: A single center retrospective study that included a cohort of pediatric achondroplasia patients and age, gender, and AHI-matched normally developed controls. Medical records and PSGs were reviewed for both cohorts and additionally MRI findings and SDB management strategies were evaluated in the achondroplasia cohort. Results: A total of 15 subjects were included in the achondroplasia cohort and they were matched to 15 normally developed subjects included in the control group. 60% were found to have an AHI in the moderate-to-severe range, and 86.7% subjects were found to have apnea that was predominately obstructive in nature. There were no significant differences found in sleep efficiency, wake after sleep onset, arousal index, time spent in each sleep stage, or oxygen desaturation nadir between the two groups. In the achondroplasia group, MRI findings demonstrated foramen magnum stenosis in 33.3% (5 patients), 2 of whom had subsequent decompression surgery. Within this cohort, 3 patients underwent adenotonsillectomy and 4 patients received positive airway pressure therapy. Conclusion: There were no significant differences found between sleep architecture and arousal index between children with achondroplasia and normally developed control subjects. This supports the belief that general management strategies for pediatric SDB, including adenotonsillectomy and continuous positive airway pressure, may be beneficial in this population. However, due to the increased risk of foramen magnum stenosis in this population, evaluation of SDB should also include neuroimaging when clinically warranted.