Sleep problems and their management in Rett syndrome

Title

Sleep problems and their management in Rett syndrome

Creator

Boban S

Identifier

Date

2015

Subject

sleep disturbance/disorders; Rett syndrome; trajectory; characteristics

Description

Rett syndrome (RTT), a rare but severe neurological disorder is associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene on the X chromosome occurring in 1:9000 live female births. Apparently normal development is followed by a regression in hand and communication skills, and subsequent development of hand stereotypies and abnormal gait. These characteristics are usually accompanied with comorbidities such as sleep problems and scoliosis. Over 80% of RTT individuals have specific sleep problems including night waking and difficulty falling asleep. Using a cross-sectional survey design, this study explored types of sleeping problems observed and relationships with variables such as age and genotype; and finally investigated specific management strategies. Participants mainly comprised families registered in the International Rett Syndrome Phenotype Database (InterRett) with a child of any age who has a confirmed RTT diagnosis and/or a MECP2 mutation. New families were invited via InterRett Facebook page and parent Listserve RettNet. A web-based questionnaire using freely available software, “REDCap” was developed to collect data. The independent variables tested were age group, mutation type, epilepsy, scoliosis, mobility and uses of sleep hygiene strategies while dependent variables tested include the presence, nature and frequency of sleep problems. Descriptive statistics were used to examine each variables and regression models including simple logistic regression and multinomial logistic regression models were employed to investigate the relationships between phenotype, treatments and sleep problems. Findings from this study showed sleep problems were more pronounced in RTT cases than in the general population. The prevalence of most sleep problems were higher in younger children and those with a p.Arg294* mutation. Other covariates including severe seizure activity was associated with poor sleep by taking into account the effect of age, mutation type, scoliosis and mobility. Non-pharmacological interventions were more perceived by families as effective in comparison to pharmacological medications.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

URL Address

Citation

Boban S, “Sleep problems and their management in Rett syndrome,” Pediatric Palliative Care Library, accessed October 21, 2021, https://pedpalascnetlibrary.omeka.net/items/show/16593.

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