Background: Septo-optic dysplasia (SOD) is a heterogeneous neurodevelopmental disorder diagnosed based on the presence of two or more of the following findings: optic nerve hypoplasia, absence of the septum pellucidum and/or dysgenesis of the corpus callosum, and pituitary hormone abnormalities. Sleep disturbances in SOD are common; however, they have not been well characterized. This study investigates sleep disturbances in patients with SOD.
Methods: This was a retrospective study that included children under age 21 years with a diagnosis of SOD. Sleep histories and polysomnographic (PSG) data were collected.
Results: 109 patients (male:female = 47:62) with SOD were identified. Of these, 61 (56%) had various sleep disturbances, including snoring (n = 34; 56%), insomnia (n = 12; 20%), and/or frequent arousals (n = 8; 13%). Thirteen patients had PSG at a mean age of 5.2 years (S.D.: 3.02). Mean total sleep time was 396.6 minutes (S.D.: 81.21), mean sleep latency was 35.01 minutes (S.D.: 31.26), and mean wake after sleep onset was 72.9 (S.D.: 75.68). Mean sleep efficiency was 75.9% (S.D.: 26.6); mean percentage of N1 sleep was 0.38% (S.D.: 0.62), of N2 sleep was 41.8% (S.D.: 10.1), of N3 sleep was 38.7% (S.D.: 15.6), and of rapid eye movement (REM) was 19.2% (S.D.: 11.3). Mean apnea-hypopnea index (AHI) was 6.8 (S.D. 10.4). Mean REM AHI was 18.1 (S.D.: 24.9). Mean arousal index was 8.88 (S.D.: 7.85).
Conclusions: Patients with SOD frequently have sleep disturbance and are at risk for fragmented sleep and obstructive sleep apnea. These patients may benefit from regular screening of sleep problems and evaluation by sleep medicine specialists.
Keywords: Obstructive sleep apnea; Polysomnography; Septo-optic dysplasia; Sleep fragmentation.
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