0928 CLINICAL PRESENTATION OF SLEEP DISORDERS IN CHILDREN WITH EHLERS-DANLOS SYNDROME

Abstract

Introduction: Ehlers-Danlos Syndrome (EDS) is a genetically-inherited group of connective tissue disorders that predominantly affects the skin, joints, and blood vessels. Adult patients with EDS routinely complain of daytime fatigue and poor sleep quality. Further, these patients are commonly diagnosed with sleep disorders including obstructive sleep apnea (OSA) and periodic limb movement disorder (PLMD). However, the clinical presentation of sleep problems and occurrence of OSA and other sleep disorders in children has not been well established. The aim of our study was to evaluate common presenting symptoms and to determine the occurrence of OSA and other sleep disorders in children with EDS. Methods: We performed a retrospective review of children with EDS presenting to a tertiary-care sleep clinic between July 2009 and August 2016. Children younger than 18 years-old diagnosed with EDS were included in our study. Demographic information and medical history were collected, and diagnostic polysomnograms were reviewed. Results: Sixty-one children were included in our study: 36.1% male and 91% Caucasian. The average age of presentation was 13.1 ± 4.0 years-old, but the mean age of onset of symptoms was 9.6 ± 4.0 years-old. The average BMI was 22.3 ± 6.2 and BMIz was 0.67 ± 1.04. The most common presenting symptoms for children seen at our sleep clinic were daytime fatigue (73.8%), daytime sleepiness (67.2%), restless sleep (65.6%), sleep-onset insomnia (57.4%), snoring (50.8%), frequent nighttime awakenings (45.9%), and morning headaches (32.8%). The average apnea hypopnea index was 1.4 ± 1.7, obstructive index 0.9 ± 1.3, and periodic limb movement index 5.3 ± 11.7. The most common diagnoses included behavioral insomnia (32.8%), periodic limb movement disorder (24.6%), primary hypersomnia or narcolepsy (21.3%), OSA (19.7%), organic insomnia (11.5%), and circadian rhythm sleep disorders (6.6%). Conclusion: In addition to snoring, most children with EDS present with daytime fatigue, daytime sleepiness, restless sleep, sleep-onset insomnia and frequent nighttime awakening. Unlike the adult population, less than 20% of the children in our study were diagnosed with OSA, underlining the importance of screening children with EDS for other sleep disorders. Additional research is needed to evaluate the effect of SDB and other sleep disorders on clinical outcome in children with EDS.