0828 Investigation of Sleep Disturbances in Pediatric Patients with Septo-Optic Dysplasia

Abstract Introduction Septo-optic dysplasia (SOD) is a heterogenous neurodevelopmental condition diagnosed based on the presence of two or more of the following findings: optic nerve hypoplasia, absence of the septum pellucidum, dysgenesis of the corpus callosum, and pituitary hormone abnormalities. Sleep disturbances in SOD are common, however, they have not been well characterized. This study aims to investigate and characterize sleep disturbances in SOD. Methods We used the Slicer-Dicer tool to identify pediatric patients ( 21 years) from EPIC with a diagnosis of SOD (ICD Q04.4) who had encounters between July 2013 and July 2023 at Norton Children’s Hospital, KY, USA. Results We identified 35 patients (M:F=12:23) with SOD. The mean age was 9.5 years (SD:4.5). Twenty-six patients described a sleep disturbance including snoring (n=5), insomnia (n=8), and frequent arousals (n=5). Of those, ten patients had previous polysomnography (PSG) at a mean age of 4.5 years (SD:3.3). For those who underwent PSG, the mean total sleep time was 381.3 minutes (SD:75.8); the median sleep latency was 14.0 minutes (SD:34.1); four patients had a prolonged sleep latency of 20 minutes (IQR:5.1-70.9); the mean sleep efficiency was 70.7% (SD: 26.9); the median percentage of N1 sleep was 0.15 % (IQR:0-0.6), N2 42.9% (IQR:35.3-49.9), N3 38.1% (IQR: 25.1-43.4), REM 21.8% (IQR:16.1-28.2). Four patients had an elevated arousal index of 10. The mean AHI was 8.2 (SD:11.6). No patients had central apnea or elevated periodic limb movements. Of the 35 patients, eight had obstructive sleep apnea and seven used medications, such as melatonin, to assist with sleep. Conclusion Patients with SOD have fragmented sleep and are at increased risk of obstructive sleep apnea. The presence of sleep disturbances in patients with SOD is likely multifactorial. Many patients with SOD have midline brain defects and midline areas that regulate sleep such as the suprachiasmatic nucleus (SCN) of the hypothalamus and the pineal gland may be impacted by their condition. Support (if any)