Journal
BRAIN & DEVELOPMENT
Volume 29, Issue 10, Pages 609-616Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2007.04.001
Keywords
MECP2; Rett syndrome; sleep problems
Categories
Funding
- NICHD NIH HHS [R01 HD043100-03, R01 HD043100-04, 1 R01 HD43100-01A1, R01 HD043100, R01 HD043100-02, R01 HD043100-01A1, R01 HD043100-05] Funding Source: Medline
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Rett syndrome (RTT) is a severe neurological disorder, affecting mainly females. It is generally caused by mutations in the MECP2 gene. Sleep problems are thought to occur commonly in Rett syndrome, but there has been little research on prevalence or natural history. An Australian population-based registry of cases born since 1976 has been operating since 1993, with current ascertainment at 300. The Australian Rett Syndrome Database (ARSD) consists of information about Rett syndrome cases including their functional ability, behaviour, sleep patterns, medical conditions and genotype. The cases range in age from 2 to 29 years. The aim of this study was to investigate the type and frequency of sleep problems, relationships with age and MECP2 mutation type and to evaluate changes over time. Parents or carers of the subjects with Rett syndrome were asked to complete a questionnaire about sleep problems on three separate occasions (2000, 2002 and 2004). Regression modelling was used to investigate the relationships between sleep problems, age and mutation type. Sleep problems were identified in over 80% of cases. The prevalence of night-time laughter decreased with age and the prevalence of reported night-time seizures and daytime napping increased with age. The prevalence of sleep problems was highest in cases with a large deletion of the MECP2 gene and in those with the p.R294X or p.R306C mutations. Sleep problems are common in Rett syndrome and there is some variation with age and mutation type. (C) 2007 Elsevier B.V. All rights reserved.
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