Fehr Stephanie, Bebbington Ami, Ellaway Carolyn, Rowe Peter, Leonard Helen, Downs Jenny
Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Australia.
J Child Neurol. 2011 Aug;26(8):980-7. doi: 10.1177/0883073811401396. Epub 2011 May 4.
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.
雷特综合征症状出现之前的早期发育史具有临床研究价值。本研究描述了粗大发育里程碑的获得及倒退情况，并评估了基因型与诊断年龄之间的关系。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纳入了293名确诊的女性受试者。大多数女孩学会了坐立、能咿呀学语或使用单词，约半数学会了走路。发育里程碑获得情况的改变与更早诊断相关。在里程碑获得、倒退年龄以及按基因型划分的诊断年龄方面存在差异。大多数家长对婴儿期的异常行为或发育表示担忧，且多数女孩在婴儿期有更为细微的非典型发育情况。临床医生应意识到雷特综合征早期发育的变异性，且不应因此排除及时进行基因检测的可能性。
