Linking MECP2 and pain sensitivity: the example of Rett syndrome
Identifieur interne : 000772 ( Ncbi/Curation ); précédent : 000771; suivant : 000773Linking MECP2 and pain sensitivity: the example of Rett syndrome
Auteurs : Jenny Downs [Australie] ; Sandrine M. Géranton [Royaume-Uni] ; Ami Bebbington [Australie] ; Peter Jacoby [Australie] ; Nadia Bahi-Buisson [France] ; David Ravine [Australie] ; Helen Leonard [Australie]Source :
- American journal of medical genetics. Part A [ 1552-4825 ] ; 2010.
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
Url:
DOI: 10.1002/ajmg.a.33314
PubMed: 20425824
PubMed Central: 3913729
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<front><div type="abstract" xml:lang="en"><p id="P1">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 <italic>MECP2</italic>
mutations. Families enrolled in the Australian Rett Syndrome Database (ARSD) and InterRett database participated in this study. Cases with a known <italic>MECP2</italic>
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.</p>
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