Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome
Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome
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DOI：
10.1177/0883073811401396
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发表时间：
2011-08-01
影响因子：
1.9
通讯作者：
Downs, Jenny
中科院分区：
文献类型：
--
作者：
Fehr, Stephanie;Bebbington, Ami;Downs, Jenny
Rett 综合征特征表现之前的早期发育史具有临床意义。这项研究描述了总体发育里程碑和回归的实现，并评估了基因型和诊断时年龄之间的关系。澳大利亚雷特综合征数据库和国际雷特综合征表型数据库共收集了 293 名经确诊的女性受试者。大多数女孩学会了坐，能够胡言乱语或使用语言，大约一半的女孩学会了走路。改变的里程碑成就与早期诊断有关。不同基因型的里程碑的获得、回归年龄和诊断年龄存在差异。大多数父母对婴儿期的异常行为或发育表示担忧，据报道，大多数女孩在婴儿期有更微妙的非典型发育。对于临床医生来说，了解雷特综合征早期发展的可变性非常重要，并且并不因此而排除及时的基因检测。
The early developmental history prior to the manifestation of Rett syndrome features is of clinical interest. This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis. The Australian Rett Syndrome Database and International Rett Syndrome Phenotype Database were used to source a total of 293 confirmed female subjects. Most girls learned to sit, were able to babble or use words, and approximately half learned to walk. Altered milestone attainment was associated with earlier diagnosis. There was variation in the acquisition of milestones, the age of regression, and the age of diagnosis by genotype. Most parents expressed concerns about unusual behaviors or development during infancy, and a more subtle atypical development during infancy was reported for most girls. It is important for clinicians to be aware of variable early development in Rett syndrome and that timely genetic testing is not precluded on this account.