Early development and regression in Rett Syndrome
This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) ex...
| Main Authors: | , , , |
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| Format: | Journal Article |
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Wiley-Blackwell Publishing, Inc.
2013
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| Online Access: | http://hdl.handle.net/20.500.11937/47088 |
| _version_ | 1848757737914105856 |
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| author | Lee, J.Y.L. Leonard, H. Piek, Jan Patricia Downs, Jennepher |
| author_facet | Lee, J.Y.L. Leonard, H. Piek, Jan Patricia Downs, Jennepher |
| author_sort | Lee, J.Y.L. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome. |
| first_indexed | 2025-11-14T09:32:51Z |
| format | Journal Article |
| id | curtin-20.500.11937-47088 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:32:51Z |
| publishDate | 2013 |
| publisher | Wiley-Blackwell Publishing, Inc. |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-470882019-02-19T05:35:12Z Early development and regression in Rett Syndrome Lee, J.Y.L. Leonard, H. Piek, Jan Patricia Downs, Jennepher Rett syndrome development autistic symptoms MECP2 regression This study utilized developmental profiling to examine symptoms in 14 girls with genetically confirmed Rett syndrome and whose families were participating in the Australian Rett syndrome or InterRett database. Regression was mostly characterized by loss of hand and/or communication skills (13/14) except one girl demonstrated slowing of skill development. Social withdrawal and inconsolable crying often developed simultaneously (9/14), with social withdrawal for shorter duration than inconsolable crying. Previously acquired gross motor skills declined in just over half of the sample (8/14), mostly observed as a loss of balance. Early abnormalities such as vomiting and strabismus were also seen. Our findings provide additional insight into the early clinical profile of Rett syndrome. 2013 Journal Article http://hdl.handle.net/20.500.11937/47088 10.1111/cge.12110 Wiley-Blackwell Publishing, Inc. fulltext |
| spellingShingle | Rett syndrome development autistic symptoms MECP2 regression Lee, J.Y.L. Leonard, H. Piek, Jan Patricia Downs, Jennepher Early development and regression in Rett Syndrome |
| title | Early development and regression in Rett Syndrome |
| title_full | Early development and regression in Rett Syndrome |
| title_fullStr | Early development and regression in Rett Syndrome |
| title_full_unstemmed | Early development and regression in Rett Syndrome |
| title_short | Early development and regression in Rett Syndrome |
| title_sort | early development and regression in rett syndrome |
| topic | Rett syndrome development autistic symptoms MECP2 regression |
| url | http://hdl.handle.net/20.500.11937/47088 |