Linking MECP2 and pain sensitivity: the example of Rett syndrome

Title

Linking MECP2 and pain sensitivity: the example of Rett syndrome

Creator

Downs J; Geranton SM; Bebbington A; Jacoby P; Bahi-Buisson N; Ravine D; Leonard H

Publisher

American Journal Of Medical Genetics.Part A

Date

2010

Subject

Child; Humans; Adult; Multivariate Analysis; adolescent; Preschool; Age Distribution; Methyl-CpG-Binding Protein 2/genetics; Mutation/genetics; Pain/complications/genetics; Rett Syndrome/complications/genetics

Description

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

Rights

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

Journal Article

Citation List Month

Backlog

Citation

Downs J; Geranton SM; Bebbington A; Jacoby P; Bahi-Buisson N; Ravine D; Leonard H, “Linking MECP2 and pain sensitivity: the example of Rett syndrome,” Pediatric Palliative Care Library, accessed May 30, 2024, https://pedpalascnetlibrary.omeka.net/items/show/14460.