NDLI: Linking MECP2 and pain sensitivity: the example of Rett syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Downs, Jenny Géranton, Sandrine M. Bebbington, Ami Jacoby, Peter Bahi-Buisson, Nadia Ravine, David Leonard, Helen
Description	Country affiliation: Australia Author Affiliation: Downs J ( Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Australia.)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33314
Journal	American Journal of Medical Genetics Part A
Issue Number	5
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Methyl-cpg-binding Protein 2 Genetics Pain Complications Rett Syndrome Adolescent Age Distribution Child, Preschool Multivariate Analysis Mutation Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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