569 Correlation between age and initial findings of sleep disordered breathing in children with achondroplasia

Abstract

Abstract Introduction Achondroplasia (ACH) occurs approximately 1 in 20,000–30,000 live births. They are prone to sleep disordered breathing specifically due to the upper airway stenosis, enlarged head circumference, combined with hypotonia and limited chest wall size associated with scoliosis at times. The co-occurrence of sleep apnea is well established and can aide in the decision for surgical intervention, however it is unclear at what age children should be evaluated for sleep apnea. Screening is often delayed as during the daytime there is no obvious gas exchange abnormalities. Due to the rareness of this disease, large studies are not available, limiting the data for discussion and analysis to develop guidelines on ideal screening age for sleep disordered breathing in children with ACH. Methods The primary aim of this study is to ascertain the presence of sleep disorder breathing and demographics of children with ACH at time of first polysomnogram (PSG) completed at one of the largest pediatric sleep lab in the country. The secondary aim of the study is to identify whether subsequent polysomnograms were completed if surgical interventions occurred and how the studies differed over time with and without intervention. Retrospective review of the PSGs from patients with ACH, completed from 2017–2019 at the Children’s Sleep Disorders Center in Dallas, TX. Clinical data, demographics, PSG findings and occurrence of interventions were collected. Results Twenty-seven patients with the diagnosis of ACH met criteria. The average age at the time of their first diagnostic PSG was at 31.6 months of age (2.7 years), of those patients 85% had obstructive sleep apnea (OSA),51% had hypoxemia and 18% had hypercapnia by their first diagnostic sleep study. Of those with OSA, 50% were severe. Majority were females, 55%. Most of our patients were Hispanic (14%), Caucasian (9%), Asian (2%), Other (2%), Black (0%). Each patient had an average of 1.9 PSGs completed. Conclusion Our findings can help create a foundation for discussion of screening guidelines. These guidelines will serve to guide primary care physicians to direct these patients to an early diagnosis and treatment of sleep disordered breathing. Support (if any):