Perspectives on hand function in girls and women with Rett syndrome
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Objective: 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. Methods: We reviewed the literature pertaining to hand function and stereotypies in Rett syndrome and developed a toolkit for their assessment and treatment. Results: 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. Conclusion: 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.
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Environmental enrichment intervention for Rett syndrome: An individually randomised stepped wedge trialDowns, Jennepher; Rodger, J.; Li, C.; Tan, X.; Hu, N.; Wong, K.; De Klerk, N.; Leonard, H. (2018)Background: Rett syndrome is caused by a pathogenic mutation in the MECP2 gene with major consequences for motor and cognitive development. One of the effects of impaired MECP2 function is reduced production of Brain ...
Downs, J.; Bebbington, A.; Jacoby, P.; Williams, A.; Ghosh, Soumya; Kaufmann, W.; Leonard, H. (2010)Aim - We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome. Method - Video assessment in naturalistic settings was supplemented by parent-reported data in a cross-sectional ...
Downs, Jennepher; Bebbington, A.; Kaufmann, W.; Leonard, H. (2011)Loss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating in the Australian Rett Syndrome Database. Approximately 40% of ...