The diagnosis of autism in a female: could it be Rett syndrome?
The diagnosis of autism in a female: could it be Rett syndrome?
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DOI：
10.1007/s00431-007-0569-x
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发表时间：
2008-06-01
影响因子：
3.6
通讯作者：
Leonard, Helen
中科院分区：
文献类型：
--
作者：
Young, Deidra J.;Bebbington, Ami;Leonard, Helen
自闭症和雷特综合征临床特征之间的重叠导致许多雷特综合征病例最初被诊断为婴儿自闭症或具有一些自闭症特征。这两种情况都严重破坏了社会和语言的发展，并经常伴随着重复的，无目的的刻板的手部动作。本研究的目的是比较Rett综合征女性受试者的早期和随后的临床病程，根据Rett综合征诊断前是否已提出自闭症诊断进行分类，并比较两组中确定的甲基-CpG结合蛋白2（MECP 2）突变谱。该研究共使用了两个数据库中记录的313例病例：澳大利亚Rett综合征数据库（ARSD）和国际Rett综合征表型数据库（InterRett）。最初诊断为自闭症的病例有明显较轻的雷特综合征症状，更有可能保持走动，有一些功能性的手使用，没有发展成脊柱侧凸。在MECP 2基因中具有p.R306C或p.T158M突变的女性更有可能被初步诊断为自闭症，并且在较晚的年龄注意到特定的Rett综合征症状。我们建议最初被认为患有自闭症的女性仔细监测Rett综合征的体征和症状的演变。
The overlap between autism and Rett syndrome clinical features has led to many cases of Rett syndrome being initially diagnosed with infantile autism or as having some autistic features. Both conditions seriously disrupt social and language development and are often accompanied by repetitive, nonpurposeful stereotypic hand movements. The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether or not a diagnosis of autism had been proposed before Rett syndrome had been diagnosed and compare the spectrum of methyl-CpG binding protein 2 (MECP2) mutations identified among the two groups. This study made use of a total of 313 cases recorded in two databases: the Australian Rett Syndrome Database (ARSD) and the International Rett Syndrome Phenotype Database (InterRett). Cases with an initial diagnosis of autism had significantly milder Rett syndrome symptoms and were more likely to remain ambulant, to have some functional hand use and not to have developed a scoliosis. Females with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age. We recommend that females who are initially considered to have autism be carefully monitored for the evolution of the signs and symptoms of Rett syndrome.