Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype

摘要: Rett syndrome is a rare but severe neurological disorder associated with mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities this disorder. This study investigated prevalence determinants sleep using an international sample. Families child confirmed diagnosis MECP2 registered International Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires returned by 364/461 (78.9%) either web-based or paper format. completed Disturbance Scale for Children provided information on presence, nature, frequency their child's problems. Multivariate multinomial regression was used investigate relationships between selected problems, age group, genotype linear disturbance scales range covariates. Night waking most prevalent problem affecting over 80% nearly half (48.3%) currently often at night. Initiating maintaining disturbed younger children those p.Arg294* mutation. Severe seizure activity poor after adjusting type, mobility. We surprised find associations some disturbances given that other aspects its phenotype milder. These findings highlight complexities aberrant function explain variation manifestation disturbances. © 2016 Wiley Periodicals, Inc.