Sleep disturbances in Rett syndrome: Impact and management including use of sleep hygiene practices

Abstract

Sleep disturbances are debilitating for individuals with Rett syndrome (RTT) and their families yet the evidence base for management is poor. We investigated management strategies and their relationships with sleep problems. Data were provided by 364/461 (79%) families with a child with RTT and registered with the International RTT Phenotype Database. Logistic regression models were used to investigate relationships between impacts of sleep problems on the child and family with age group, mutation type, medication type, and sleep hygiene score. Linear regression models were used to estimate the association of disorders of initiating and maintaining sleep (DIMS) with age group, mutation type, medication type, and sleep hygiene. Among those who ever had difficulty falling asleep or night waking, use of any medication was associated with higher odds of moderate/major impact sleep problems (relative to minor/no impact) for the affected child and the family, as well as higher DIMS scores, when compared with the no treatment/nonmedication group accounting for the effects of age, mutation type, and sleep hygiene score. Better use of sleep hygiene practices was associated with lower odds of moderate/major impact on the family (odds ratio 0.60, 95% confidence intervals [CIs] 0.37, 0.98) and lower DIMS scores (geometric mean ratio 0.86, 95%CI 0.80, 0.92) compared with poorer use after adjusting for covariates. Attention to sleep hygiene remains an important management strategy for sleep problems in RTT. Further prospective research is required to investigate efficacy of pharmaceutical treatments.

Multisystem comorbidities in classic Rett syndrome: a scoping review

“…23 The majority of cross-sectional studies (5 articles) also involved data collection through in person assessments; 2 studies that were multisite 24 25 and 3 that were single institution. [26][27][28] Of the remaining cross-sectional studies (4 articles), three involved data collection through remotely disseminated caregiver completed questionnaires [29][30][31] and a single study involved retrospective medical records review. 32 The multisystem nature of the disorder is quite apparent based on the observational studies identified in this scoping review (table 2).…”

Sleep Quality in Children and Adults with Rett Syndrome

“…Even though sleep medications may have reduced sleep problems, many individuals using medications to aid sleep, especially combination therapy, remain likely to have more difficulty initiating and maintaining sleep as well as greater impacts from sleep problems. 7 This could be due to a reverse relationship as those requiring sleep medication generally sleep worse than those who are not on any medication. In regard to treatment approaches, this study shows that parents consider a "bedtime routine," familiar environment, and a regular daytime routine critical for good sleep quality.…”

“…4 A study by Boban et al also demonstrated that sleep hygiene strategies such as following a bedtime routine, going to bed at the same time each night, and having a dark room were frequently used by RTT patients to aid good sleep. 7 Nevertheless, drug trials need to be designed that further investigate the long-term efficacy and safety of melatonin and retarded melatonin being used as a hypnotic agent RTT patients. The heterogeneity of RTT and the unsatisfactory outcome measures limit the implementation and success of drug trials.…”

“…4 An international study by Boban et al showed that high sleep hygiene scores were not only associated with lower "Disorders of Initiating and Maintaining Sleep" (DIMS) subscale sores but also with a lower odds of moderate/major impact on the family. 7 Sleep disorders constitute a universal symptom that many RTT patients struggle with over a lifetime. Due to their high impact on family functioning and stress scales, they are listed as a quality of life (QoL) domain in several studies.…”

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic

“…Sleep dysfunction is a prominent co-morbidity reported in 80% of patients with RTT [92,93,94], and sleep deprivation has been investigated as an aggravating factor in epilepsy [95]. Low sleep efficiency, long sleep-onset latency, and a short and fragmented total sleep time have been reported in RTT [94].…”