Abstract

Abstract Introduction Down syndrome (DS) is one of the most common genetic disorders caused by the Trisomy of chromosome 21. Children with DS secondary to the unique airway anatomy and hypotonia, are at risk for obstructive sleep apnea (OSA). Untreated OSA in children can lead to serious complications because of chronic hypoxia leading to Pulmonary hypertension (PHTN) and Cor pulmonale. An overnight polysomnogram (PSG), the gold standard for diagnosing OSA in children, should be performed within 4 years per American Academy of Pediatrics recommendations. However, OSA in DS has been observed at a much younger age. Methods In this single-center retrospective study, data was collected by reviewing the medical records and PSG REDCap database from 2019-2021. Patients with ICD code 10 diagnosis of DS between 0 to 4 years of age who underwent PSG and echocardiography were included. Our primary aim was to assess the severity of OSA in preschool children and describe echocardiogram parameters in DS patients with OSA. We hypothesized that there will be differences in polysomnogram parameters of DS children with and without PHTN. Results 61 patients met the criteria for the study with the mean age being 11.3 months. 3 patients (5.4%) did not have OSA (apnea hypopnea index (AHI)< 1/hr), 11 patients (19.6%) had mild OSA (AHI 1-4.9/hr), 12 patients (21.4%) had moderate OSA (AHI 5-10/hr), 30 patients had severe OSA (AHI >10/hr). Five patients with missing AHI values were excluded for subsequent analyses. Echocardiogram parameters were compared using the described AHI cut offs to define severity of OSA. OSA was observed to be significantly higher in the group with elevated RV systolic pressure. Conclusion Although our study did not find any difference in PSG findings in young children with DS with and without PHTN, obstructive apnea index was significantly elevated in young children with elevated RV systolic pressure. OSA is a significant contributor to the development of PHTN in children with DS. Children with DS are at higher risk for PHTN due to their unique pulmonary vasculature. As PHTN is a significant comorbidity of DS, it is important to perform PSGs early during childhood to detect and treat OSA. Support (if any)

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