1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1002/ajmg.a.33314" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.33314</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 A name given to the resource Linking MECP2 and pain sensitivity: the example of Rett syndrome Publisher An entity responsible for making the resource available American Journal Of Medical Genetics.Part A Date A point or period of time associated with an event in the lifecycle of the resource 2010 Subject The topic of the resource Child; Humans; Adult; Multivariate Analysis; adolescent; Preschool; Age Distribution; Methyl-CpG-Binding Protein 2/genetics; Mutation/genetics; Pain/complications/genetics; Rett Syndrome/complications/genetics Creator An entity primarily responsible for making the resource Downs J; Geranton SM; Bebbington A; Jacoby P; Bahi-Buisson N; Ravine D; Leonard H Description An account of the resource Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. Families enrolled in the Australian Rett Syndrome Database (ARSD) and InterRett database participated in this study. Cases with a known MECP2 pathogenic mutation, whose families had completed a questionnaire on registration and had answered questions on pain sensitivity were included (n = 646). Logistic regression was used to analyze relationships between the atypical pain responses and genotype. Descriptions of decreased pain sensitivity were content analyzed. The prevalence estimate of reporting an abnormal pain response was 75.2% and a decreased sensitivity to pain was 65.0% in the population-based ARSD. Families of ARSD and InterRett subjects with a C-terminal (OR 2.6; 95% CI 0.8-8.0), p.R168X (OR 2.1; 95% CI 0.7-6.1), or p.R306C (OR 2.7; 95% CI 0.8-9.6) mutation were more likely to report decreased sensitivity to pain. Parents and carers described decreased and delayed responses in situations judged likely to cause pain such as injections, falls, trauma, and burns. This study has provided the first precise estimate of the prevalence of abnormal sensitivity to pain in Rett syndrome but specific relationships with genotype are not yet clear. Clinical practice should include a low threshold for the clinical assessment of potential injuries in Rett syndrome. 2010 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1002/ajmg.a.33314" target="_blank" rel="noreferrer">10.1002/ajmg.a.33314</a> Rights Information about rights held in and over the resource 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). Type The nature or genre of the resource Journal Article 2010 Adolescent Adult Age Distribution American Journal Of Medical Genetics.Part A Backlog Bahi-Buisson N Bebbington A Child Downs J Geranton SM Humans Jacoby P Journal Article Leonard H Methyl-CpG-Binding Protein 2/genetics Multivariate Analysis Mutation/genetics Pain/complications/genetics Preschool Ravine D Rett Syndrome/complications/genetics