Linking MECP2 and pain sensitivity: the example of Rett syndrome.
Linking MECP2 and pain sensitivity: the example of Rett syndrome.
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DOI：
10.1002/ajmg.a.33314
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发表时间：
2010-05
影响因子：
2
通讯作者：
Leonard, Helen
中科院分区：
文献类型：
--
作者：
Downs, Jenny;Geranton, Sandrine M.;Bebbington, Ami;Jacoby, Peter;Bahi-Buisson, Nadia;Ravine, David;Leonard, Helen
最近的动物研究表明 MeCP2 功能与疼痛敏感性之间存在联系。本研究调查了 Rett 综合征非典型疼痛反应的性质和患病率及其与特定 MECP2 突变的关系。登记在澳大利亚雷特综合症数据库 (ARSD) 和 InterRett 数据库中的家庭参与了这项研究。纳入已知 MECP2 致病突变的病例，其家属已填写登记问卷并回答了疼痛敏感性问题（n=646）。使用逻辑回归分析非典型疼痛反应与基因型之间的关系。对疼痛敏感性降低的描述进行了内容分析。在基于人群的 ARSD 中，报告异常疼痛反应的患病率估计为 75.2%，对疼痛敏感性降低的患病率为 65.0%。具有 C 端突变（OR 2.6；95% CI 0.8-8.0）、p.R168X（OR 2.1；95% CI 0.7-6.1）或 p.R306C（OR 2.7；95% CI 0.8-9.6）突变的 ARSD 和 InterRett 受试者家族更有可能报告对疼痛的敏感性降低。父母和照顾者描述了在被认为可能引起疼痛的情况下，如注射、跌倒、创伤和烧伤，反应减少和延迟。这项研究首次精确估计了雷特综合征中疼痛异常敏感性的患病率，但与基因型的具体关系尚不清楚。临床实践应包括对雷特综合征潜在损伤进行临床评估的低阈值。
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.
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DOI：
10.1046/j.1365-2788.1998.00078.x
发表时间：
1998-02-01
影响因子：
3.6
作者：
Bromley, J;Emerson, E;Caine, A
通讯作者：
Caine, A
影响因子：
9.9
作者：
Bebbington, A.;Anderson, A.;Leonard, H.
通讯作者：
Leonard, H.
影响因子：
5.2
作者：
Colvin, L;Fyfe, S;Leonard, H
通讯作者：
Leonard, H
影响因子：
2.9
作者：
Nader, R;Oberlander, TF;Craig, KD
通讯作者：
Craig, KD
影响因子：
4.8
作者：
Royston, Patrick
通讯作者：
Royston, Patrick