School of Psychology and Speech Pathology and Curtin Health Innovation Research Institute, Curtin University, Perth, Australia.
Clin Genet. 2013 Dec;84(6):572-6. doi: 10.1111/cge.12110. Epub 2013 Mar 11.
This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome.
本研究采用发展特征分析方法，对 14 名经基因确诊的雷特综合征女孩及其家庭进行研究，这些家庭都参与了澳大利亚雷特综合征或 InterRett 数据库。除了一个女孩表现出技能发展减缓外，大部分女孩的回归特征是丧失手部和/或沟通技能（13/14）。社会退缩和无法安慰的哭泣常常同时出现（9/14），其中社会退缩的持续时间短于无法安慰的哭泣。超过一半的样本（8/14）的先前获得的粗大运动技能下降，主要表现为失去平衡。还观察到早期异常，如呕吐和斜视。我们的发现为雷特综合征的早期临床特征提供了更多的见解。
