Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3-to 4-Year Period
Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3-to 4-Year Period
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DOI：
10.1177/0883073811402688
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发表时间：
2011-10-01
影响因子：
1.9
通讯作者：
Leonard, Helen
中科院分区：
文献类型：
--
作者：
Foley, Kitty-Rose;Downs, Jenny;Leonard, Helen
Rett综合征是一种罕见但严重的神经系统疾病，通常与MECP2基因突变有关。我们描述了在3至4年的70名受试者参与澳大利亚Rett综合征数据库的粗大运动功能的变化。使用线性回归评估与年龄、基因型以及Rett综合征粗大运动量表上测量的一般和复杂粗大运动技能评分的关系。大约40%的受试者的技能稍好或保持不变，大约60%的受试者略有下降。在2004年参加步行活动的青少年和女性比年轻人更不容易失去复杂的技能。具有p.R294X突变的女孩更有可能失去复杂的运动技能，否则技能变化会分散在突变类别中。总之，在此期间观察到了小的变化，青少年和有行走能力的妇女的技能更稳定。
Rett syndrome is a rare but severe neurological disorder typically associated with a mutation in the MECP2 gene. We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database. Linear regression was used to assess relationships with age, genotype, and general and complex gross motor skills scores measured on the Gross Motor Scale for Rett syndrome. Skills were slightly better or maintained in approximately 40% of subjects and slightly decreased in approximately 60%. Teenagers and women who walked in 2004 were less likely to lose complex skills than those younger. Girls with a p.R294X mutation were more likely to lose complex motor skills, otherwise skill changes were spread across the mutation categories. In conclusion, small changes were observed over this period with greater stability of skills in teenagers and women with the ability to walk.