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Dublin Core
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Title
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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URL Address
<a href="http://doi.org/10.1002/ajmg.a.37784" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.37784</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
Publisher
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American Journal of Medical Genetics Part A
Date
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2016
Subject
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Middle Aged; Infant Newborn; Severity of Illness Index; Epilepsy/ge [Genetics]; Young Adult; Child; Humans; Adult; Adolescent; Child Preschool; Infant; Mutation; Epilepsy/di [Diagnosis]; Sleep Wake Disorders/di [Diagnosis]; Phenotype; Genetic Association Studies; Genotype; Rett Syndrome/ge [Genetics]; Rett Syndrome/pp [Physiopathology]; Sleep Wake Disorders/ge [Genetics]; 0 (Methyl-CpG-Binding Protein 2); Methyl-CpG-Binding Protein 2/ge [Genetics]; Rett Syndrome/di [Diagnosis]; sleep disturbance/disorders; Rett syndrome; trajectory; characteristics
Creator
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Boban S; Wong K; Epstein A; Anderson B; Murphy N; Downs J; Leonard H
Description
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Rett syndrome is a rare but severe neurological disorder associated with a mutation in the methyl CpG binding protein 2 (MECP2) gene. Sleep problems and epilepsy are two of many comorbidities associated with this disorder. This study investigated the prevalence and determinants of sleep problems in Rett syndrome using an international sample. Families with a child with a confirmed Rett syndrome diagnosis and a MECP2 mutation registered in the International Rett Syndrome Phenotype Database (InterRett) were invited to participate. Questionnaires were returned by 364/461 (78.9%) either in web-based or paper format. Families completed the Sleep Disturbance Scale for Children and provided information on the presence, nature, and frequency of their child's sleep problems. Multivariate multinomial regression was used to investigate the relationships between selected sleep problems, age group, and genotype and linear regression for the relationships between sleep disturbance scales and a range of covariates. Night waking was the most prevalent sleep problem affecting over 80% with nearly half (48.3%) currently waking often at night. Initiating and maintaining sleep was most disturbed for younger children and those with a p.Arg294* mutation. Severe seizure activity was associated with poor sleep after adjusting for age group, mutation type, and mobility. We were surprised to find associations between the p.Arg294* mutation and some sleep disturbances given that other aspects of its phenotype are milder. These findings highlight the complexities of aberrant MECP2 function in Rett syndrome and explain some of the variation in manifestation of sleep disturbances. © 2016 Wiley Periodicals, Inc.
Identifier
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<a href="http://doi.org/10.1002/ajmg.a.37784" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37784</a>
Rights
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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).
0 (Methyl-CpG-Binding Protein 2)
2016
Adolescent
Adult
American Journal of Medical Genetics Part A
Anderson B
Boban S
characteristics
Child
Child Preschool
Downs J
Epilepsy/di [diagnosis]
Epilepsy/ge [Genetics]
Epstein A
Genetic Association Studies
Genotype
Humans
Infant
Infant Newborn
Leonard H
Methyl-CpG-Binding Protein 2/ge [Genetics]
Middle Aged
Murphy N
Mutation
Phenotype
Rett syndrome
Rett Syndrome/di [Diagnosis]
Rett Syndrome/ge [Genetics]
Rett Syndrome/pp [Physiopathology]
Severity Of Illness Index
sleep disturbance/disorders
Sleep Wake Disorders/di [Diagnosis]
Sleep Wake Disorders/ge [Genetics]
Trajectory
Wong K
Young Adult