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Perspectives on hand function in girls and women with Rett syndrome |
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| Authors: | Jenny Downs Stephanie Parkinson Sonia Ranelli Helen Leonard Pamela Diener Meir Lotan |
| Affiliation: | 1. Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia,Perth, Western Australia;2. School of Physiotherapy and Curtin Health Innovation Research Institute,Perth, Western Australia;3. School of Physiotherapy and Curtin Health Innovation Research Institute,Perth, Western Australia;4. School of Health Professions, Marymount University,Arlington, VA, USA;5. School of Medicine, Georgetown University,Washington, DC, USA;6. Israeli Rett Center, National Evaluation Team, Chaim Sheba Medical Center,Tel HaShomer, Ramat Gan, Israel;7. Department of Physical Therapy, University Center of Judea and Samaria,Ariel, Israel |
| Abstract: | 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. |
| Keywords: | Hand function MECP2 Rett syndrome stereotypies |