Abstract
BackgroundRett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT.MethodsThe present study aimed to replicate and extend previous work about the feasibility of measuring sleep with an actigraph device in a sample of girls with clinically diagnosed RTT (N = 13, mean age = 9 years, 5 months). Participants wore an actigraph device day and night for seven consecutive days. Materials also included a parent-completed sleep diary to measure bedtime, duration of nighttime sleep, and daytime sleep, and the Child Sleep Habit’s Questionnaire (CSHQ).ResultsThe means for the sample as measured by actigraphy were 492.3 min (SD = 47.3) of total night sleep (TNS), 76.0% (SD = 6.7) sleep efficiency, 86.0 min (SD = 34.2) of wake after sleep onset, and 46.1 min (50.8) of sleep when parents reported a nap occurring. Parents reported 589.7 min (SD = 53.6) of TNS, 15.9 min (SD = 12.0) of WASO, and 93.6 min (SD = 66.8) of daytime sleep according to sleep diaries, with all parents reporting at least one nap during the week. Relations were found between sleep characteristics and seizure status and CSHQ total scores. No age-related changes were observed for any sleep characteristic, regardless of collection method. Five of nine participants above the cutoff score on the CSHQ indicate the need for further evaluation for a sleep disorder.ConclusionsOverall, actigraphy was feasible in this community-based sample of girls with RTT. The results replicated some aspects of previous studies of sleep in RTT (e.g., no age-related changes in total nighttime sleep or efficiency). Some participants met the American Academy of Sleep Medicine guidelines for recommended total sleep time, with others showing too much or too little sleep. Each of the three methods for describing sleep presented its own advantages and challenges. Future work should be prospectively designed, validate the use of actigraphy in this population, and include a typically developing comparison sample to improve the precision of our understanding of sleep in RTT.
Highlights
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the methyl-CpGbinding protein 2 gene (MECP2) gene
The participant with the MECP2-related disorder had a clinical diagnosis of atypical RTT, but did not meet diagnostic criteria based on a review of her medical records
Sleep characteristics from actigraphy Actigraphy data were successfully collected for all 13 participants
Summary
Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Rett syndrome (RTT) is a rare neurodevelopmental disorder characterized by myriad debilitating health complications and numerous developmental and behavioral problems [1, 2]. RTT affects approximately one in 10,000–15,000 live female births (it is exceedingly rare in males) and is most often caused by mutations in the methyl-CpGbinding protein 2 gene (MECP2) [3]. Most females with RTT (i.e., “classic RTT”) follow a pattern of seemingly typical development from birth until 6–18 months, Considering the numerous health and behavioral issues, it is not surprising that sleep problems are commonly reported in RTT. Clinical and preclinical studies have examined melatonin and circadian activity rhythm cycles in RTT. Results indicated abnormal melatonin cycles in a sample of two girls with RTT [9] and abnormal circadian activity rhythms in mice with RTT compared to wild type controls [10, 11]
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