Glaze, D. G. | bioRxiv Science

bioRxiv2021

Evaluating Sleep Disturbances in Children with Rare Genetic Neurodevelopmental Syndromes

BackgroundAdequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared to typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS) and Prader-Willi (PWS) syndromes in order to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes to each other, and to typically developing controls. MethodsChildren were recruited from the Rare Diseases Clinical Research Network (RDCRN) consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including: Pediatric Sleep Questionnaire (Sleep-Disordered Breathing [SDB]); Childrens Sleep Habits Questionnaire; Pediatric Daytime Sleepiness Scale. ResultsSleep data were analyzed from 714 participants, ages 2-18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared to individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances which were associated with each of the genetic syndromes. ConclusionsIndividuals with RTT, AS and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

genetics↗

bioRxiv2019

Kinematics associated with treadmill walking in Rett Syndrome

Individuals with Rett syndrome suffer from severely impaired cognitive and motor performance. Current movement-related therapeutic programs often include traditional physical therapy activities and assisted treadmill walking routines for those patients who are ambulatory. However, there are no quantitative reports of kinematic gait parameters obtained during treadmill walking. Here we report the results of an investigation of 17 females diagnosed with typical Rett who walked on a treadmill as speed gradually increased. The objective included characterizing lower limb kinematics, including knee and hip joint range of motions, velocities, limb asymmetries, and the variance associated with these measures. Joint kinematics were obtained using a 12 camera motion capture system and associated processing and analysis software. Stride times progressively decreased as treadmill speeds increased although the range of speeds our participant could walk was quite slow: range 0.2 m/s - 0.5 m/s. There were significant main effects of speed on sagittal knee and hip range of motions and hip velocity. There were large joint asymmetries and variance values relative to both healthy walkers and others patient populations although variance values decreased as walking speed increased. There were significant correlations between joint range of motions and stride times and joint velocities and stride times. The results indicate that Rett patients can adapt their kinematic gait patterns in response to increasing treadmill speed but their ability to do so lies within a narrow range of speeds. We suggest that treadmill training for ambulatory individuals with Rett may further promote improved walking kinematics as well as overall health benefits.

neuroscience↗