Downs Jenny, Parkinson Stephanie, Ranelli Sonia, Leonard Helen, Diener Pamela, Lotan Meir
Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia , Perth , Western Australia.
Dev Neurorehabil. 2014 Jun;17(3):210-7. doi: 10.3109/17518423.2012.758183. Epub 2013 Jul 19.
Rett syndrome is a rare neurodevelopmental disorder that is usually associated with a mutation on the X-linked MECP2 gene. Hand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment.
There is little published information on management of hand function in Rett syndrome. We suggest assessment and treatment strategies based on available literature, clinical experience and grounded in theories of motor control and motor learning.
Additional studies are needed to determine the best treatments for hand function in Rett syndrome. Meanwhile, clinical needs can be addressed by supplementing the evidence base with an understanding of the complexities of Rett syndrome, clinical experience, environmental enrichment animal studies and theories of motor control and motor learning.
雷特综合征是一种罕见的神经发育障碍，通常与X连锁的MECP2基因突变有关。手部功能受到特别影响，我们讨论了优化雷特综合征手部功能的理论和实践观点。
我们回顾了有关雷特综合征手部功能和刻板动作的文献，并开发了一套用于评估和治疗的工具包。
关于雷特综合征手部功能管理的已发表信息很少。我们根据现有文献、临床经验以及运动控制和运动学习理论提出了评估和治疗策略。
需要更多研究来确定雷特综合征手部功能的最佳治疗方法。同时，通过理解雷特综合征的复杂性、临床经验、环境丰富化动物研究以及运动控制和运动学习理论来补充证据基础，可以满足临床需求。
