Describing the phenotype in Rett syndrome using a population database
Describing the phenotype in Rett syndrome using a population database
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DOI：
10.1136/adc.88.1.38
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发表时间：
2003-01-01
影响因子：
5.2
通讯作者：
Leonard, H
中科院分区：
文献类型：
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作者：
Colvin, L;Fyfe, S;Leonard, H
背景：最近发现MECP2基因突变是导致Reft综合征的原因，促使人们对基因型-表型关系进行研究。然而，尽管有这些遗传上的进步，对所有表型的描述流行病学却很少。目的：通过人口数据库，用四种不同的量表来描述Rett综合征的表型变异。方法：利用包括澳大利亚儿科监测单位在内的多种确定来源，对1976年以来出生的Rett综合征病例进行了澳大利亚队列研究，提供了Rett综合征的第一个基于遗传特征的人群研究。2000年对家庭进行了后续问卷调查，并用于提供四个不同严重性量表项目的回答。结果：1993年1月至2000年7月共报告雷特综合征确诊病例199例；152个家庭为后续研究提供了信息。Kerr量表的平均得分为22.9分（标准差4.8），7岁以下为20.5分，17岁以上为24.2分。平均Percy评分为24.9 (SD 6.6)，随年龄组增加，从23.0增加到26.9。平均Pineda评分为16.3 (SD 4.5)，各组间无差异。平均WeeFIM为29.0 (SD 11.9)，表明极度依赖，范围从18到75。结论：我们扩展了Rett综合征的描述性流行病学，并根据所选择的严重程度量表显示了不同的模式。尽管所有受影响的儿童都有严重的功能依赖，但仍然有可能识别出一些能力差异，即使是在已确定MECP2突变的儿童中。
Background: Mutations in the MECP2 gene have been recently identified as the cause of Reft syndrome, prompting research into genotype-phenotype relations. However, despite these genetic advances there has been little descriptive epidemiology of the full range of phenotypes.Aims: To describe the variation in phenotype in Rett syndrome using four different scales, by means of a population database.Methods: Using multiple sources of ascertainment including the Australian Paediatric Surveillance Unit, the development of an Australian cohort of Rett syndrome cases born since 1976 has provided the first genetically characterised population based study of Rett syndrome. Follow up questionnaires were administered in 2000 to families and used to provide responses for items in four different severity scales.Results: A total of 199 verified cases of Rett syndrome were reported between January 1993 and July 2000; 152 families provided information for the follow up study. The mean score using the Kerr scale was 22.9 (SD 4.8) and ranged from 20.5 in those under 7 years to 24.2 in those over 17 years. The mean Percy score was 24.9 (SD 6.6) and also increased with age group from 23.0 to 26.9. The mean Pineda score was 16.3 (SD 4.5) and did not differ by age group. The mean WeeFIM was 29.0 (SD 11.9), indicating extreme dependence, and ranged from 18 to 75.Conclusion: We have expanded on the descriptive epidemiology of Rett syndrome and shown different patterns according to the severity scale selected. Although all affected children are severely functionally dependent, it is still possible to identify some variation in ability, even in children with identified MECP2 mutations.