LAUSR

Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting females and is linked to mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Sleep issues and frequent epileptiform discharges are common in RTT. Typical comorbidities in RTT include poor growth, feeding difficulties, hyperventilation and breath-holding, seizures, scoliosis, and disrupted sleep. Although polysomnographic studies indicate sleep disruption in patients with RTT, few evaluate if the epileptiform activity is associated with significantly greater changes in sleep. We analyzed if epileptiform discharges were associated with greater sleep changes than those seen without epileptiform discharges. This retrospective case control of 10 RTT subjects (mean age, 11.19 years; ranged from 1 to 33 years) underwent standard in-lab polysomnography (PSG) recording. Subjects were compared to 10 age and gender matched controls with an AHI < 5 and no chronic medical problems. Rett children were divided into those with epileptiform discharges and those without. The two groups were compared using binomial cutoffs for each sleep parameter, and significance was determined by Fisher’s Exact Test. All studies were scored using the AASM criteria. Comparing our cohort of RTT patients to control subjects, the RTT patients have higher N3% of sleep, decreased N2%, and shorter sleep onset latency. 4 of the 10 PSGs are notable for frequent interictal epileptiform discharges. However, comparing those RTT patients with epileptiform discharges to those without, only REM latency trending shorter in those with epileptiform discharges (p= 0.057). No other significant differences were seen sleep staging, latency, total sleep time, efficiency, periodic limb movements nor respiratory parameters. Our cohort did not find major differences in sleep features between those RTT patients with epileptiform discharges compared to those without. This may be related to a lack of influence of epileptiform discharges on these parameters or related to our small sample size. Although our cohort did not show major significant differences between those with epileptiform discharges, further study is required to delineate a more subtle relationship of these discharges to sleep.