Perspectives on hand function in girls and women with Rett syndrome
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 l...
| Main Authors: | , , , , , |
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| Format: | Journal Article |
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Informa Healthcare
2014
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| Online Access: | http://hdl.handle.net/20.500.11937/43204 |
| _version_ | 1848756625607753728 |
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| author | Downs, Jennepher Parkinson, Stephanie Ranelli, Sonia Leonard, H. Diener, P. Lotan, M. |
| author_facet | Downs, Jennepher Parkinson, Stephanie Ranelli, Sonia Leonard, H. Diener, P. Lotan, M. |
| author_sort | Downs, Jennepher |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T09:15:11Z |
| format | Journal Article |
| id | curtin-20.500.11937-43204 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:15:11Z |
| publishDate | 2014 |
| publisher | Informa Healthcare |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-432042017-09-13T15:06:35Z Perspectives on hand function in girls and women with Rett syndrome Downs, Jennepher Parkinson, Stephanie Ranelli, Sonia Leonard, H. Diener, P. Lotan, M. Rett syndrome Hand function stereotypies MECP2 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. 2014 Journal Article http://hdl.handle.net/20.500.11937/43204 10.3109/17518423.2012.758183 Informa Healthcare fulltext |
| spellingShingle | Rett syndrome Hand function stereotypies MECP2 Downs, Jennepher Parkinson, Stephanie Ranelli, Sonia Leonard, H. Diener, P. Lotan, M. Perspectives on hand function in girls and women with Rett syndrome |
| title | Perspectives on hand function in girls and women with Rett syndrome |
| title_full | Perspectives on hand function in girls and women with Rett syndrome |
| title_fullStr | Perspectives on hand function in girls and women with Rett syndrome |
| title_full_unstemmed | Perspectives on hand function in girls and women with Rett syndrome |
| title_short | Perspectives on hand function in girls and women with Rett syndrome |
| title_sort | perspectives on hand function in girls and women with rett syndrome |
| topic | Rett syndrome Hand function stereotypies MECP2 |
| url | http://hdl.handle.net/20.500.11937/43204 |