Abstract
Objectives: To assess sleep quality and timing in children with Angelman syndrome (AS) with sleep problems using questionnaires and actigraphy and contrast sleep parameters to those of typically developing (TD) children matched for age and sex.Methods: Week-long actigraphy assessments were undertaken with children with AS (n = 20) with parent-reported sleep difficulties and compared with age and sex matched TD controls. The presence of severe sleep problems was assessed using the modified Simonds and Parraga sleep questionnaire. Sleep hygiene was measured using the Family Inventory of Sleep Habits.Results: Actigraphy and parent-completed sleep diary data indicated that children with AS had significantly earlier bedtimes (p = .003, Cohen d = .47) and poorer sleep efficiency (78%, p = .04, d = .33) than TD children (84%). No significant differences in total sleep time, sleep onset latency or wake after sleep onset were found between the two groups. The expected relationship between later bedtimes and increasing age found for the TD group (p < .001, β.78) was not evidenced for the AS group (p = .09, β.39). Considerable inter-individual and night to night variation in actigraphy assessed total sleep time and wake after sleep onset was found for children with AS compared to TD children. Parent report indicated that a greater proportion of children with AS had severe night waking problems compared to TD children (81 versus 5%). No significant differences in sleep hygiene and excessive daytime sleepiness were found between the two groups (p > .05).Conclusions: This study reports the largest objective dataset of sleep quality parameters in children with AS. Sleep quality in this group was characterised by poor efficiency and significant intra- and inter-individual variability that warrants further investigation. This variability should inform assessment and intervention for sleep in children with AS, as averages of total sleep, even across a 7 day period may not capture the difficulties with night waking highlighted by parental questionnaire report.
Highlights
Angelman syndrome (AS) is caused by lack of expression of the UBE3A gene on the maternal 15q11–13 chromosome, arising from various genetic mechanisms [1]
No difference between the average of total sleep time on weekday nights and weekend nights was found for children with AS (Z = -.859, p = .391) and Typically developing (TD) children (Z = -.224, p = .823)
Children with AS did not have an excess of daytime sleepiness compared to TD children, but were more likely to snore more than half the time (24 versus 0% of children) and, significantly, no difference in sleep hygiene practices were found between the two groups
Summary
Angelman syndrome (AS) is caused by lack of expression of the UBE3A gene on the maternal 15q11–13 chromosome, arising from various genetic mechanisms [1]. These mechanisms include a 5–7 Mb De Novo interstitial deletion of the maternal 15q11.2– Q13 region for approximately 75% of individuals, Paternal Uniparental Disomy (UPD) (1–2%), an Imprinting Defect (1–3%), and mutation in the UBE3A gene (10%) [2]. Takaesu et al [8] identified 53% of their sample of 15 individuals with AS to have a circadian rhythm disorder, including an irregular sleep–wake cycle disorder (26.7%), non-24-h sleep–wake cycle (13.3%), and delayed sleep phase disorder (13.3%). In the investigation of sleep disturbance in AS, there is a need to characterize the specific sleep disturbances experienced by children with AS using validated questionnaires and objective measures and evaluate sleep phase, given possible circadian rhythm disorders
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
