0592 Sleep Disordered Breathing In Patients With Rett Syndrome

Abstract

Introduction: Abnormalities of breathing during wake have been well described in patients with Rett syndrome. Polysomnographic studies (PSG) of patients with Rett syndrome have largely focused on the EEG abnormalities and sleep architecture. Few studies assessing breathing disturbances during sleep yielded conflicting results. No large studies have evaluated clinical presentation and specific type of sleep disordered breathing (SDB) in patients with Rett syndrome. This study will evaluate subjective symptoms at the initial presentation to the sleep medicine clinic and the type of SDB as determined by PSG. Methods: Retrospective chart review of patients with a diagnosis Rett Syndrome was performed at our institution. Only patients who were referred to our sleep clinic and underwent an overnight PSG from January 2007 to August 2017 were included in the analysis. Results: 17 patients were identified, 16 female and 1 male. Age ranged in years from 2.7–36.9 years (15.2 ± 10.1) at time of PSG. Most common presenting symptom was snoring (12/17, 70.5%), followed by witnessed apnea (9/17, 52.9%), irregular breathing (2/17, 11.8%), gasping (2/17, 11.8%), and respiratory failure (1/17, 5.9%). All patients demonstrated irregular breathing during wake on the PSG. For the type and severity of SDB, 11/17 (61%) had obstructive sleep apnea (OSA) with obstructive apnea-hypopnea index (OAHI)> 1, 5/11 (45%) had severe OSA with OAHI>10, 1 patient had central sleep apnea (central apnea index > 5), and 1 patient had alveolar hypoventilation. Analysis of PSG of all patients revealed that the mean apnea hypopnea index was 7.09 ± 8.02 (OAHI 5.35 ± 6.21, CAI 1.74 ± 3.21), the average sleep efficiency was 69.4 ± 18.1% and the mean arousal index was 12.04 ± 6.4. Conclusion: Snoring and witnessed apneas were the most common complaints in our cohort. In addition to breathing abnormalities during wake SDB, mainly OSA, was very common. Central sleep apnea and hypoventilation were quite rare in our cohort. Findings of decreased sleep efficiency and increased arousal index were consistent with prior reports. Further studies are needed to examine whether respiratory control abnormalities or anatomical obstruction play a role in pathogenesis of OSA in this population.