Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, with genetically confirmed Rett syndrome was obtained from the Australian Rett...
| Main Authors: | , , , , |
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| Format: | Journal Article |
| Published: |
2015
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| Online Access: | http://hdl.handle.net/20.500.11937/18407 |
| _version_ | 1848749735969554432 |
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| author | Urbanowicz, A. Downs, Jennepher Girdler, S. Ciccone, N. Leonard, H. |
| author_facet | Urbanowicz, A. Downs, Jennepher Girdler, S. Ciccone, N. Leonard, H. |
| author_sort | Urbanowicz, A. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, with genetically confirmed Rett syndrome was obtained from the Australian Rett Syndrome Database (ARSD) (n=244) and the International Rett Syndrome Phenotype Database (InterRett) (n=522). Relationships between MECP2 mutation type and age of regression in speech-language abilities, and the level of speech-language abilities before and after this regression were investigated. The females had a median age of 4.95 years in the ARSD and 5.25 years in InterRett. The majority (89%, 685/766) acquired speech-language abilities in the form of babble or words at some point in time. Of those who acquired babble or words, 85% (581/685) experienced a regression in these abilities. Those with a p.Arg133Cys mutation were the most likely to use one or more words, prior to (RRR=3.45; 95% CI 1.15-10.41) and after (RRR=5.99; 95% CI 2.00-17.92), speech-language regression. Girls with Rett syndrome vary in their use of speech and language, and in their experience of speech-language regression and these variations are partly explained by genotype. |
| first_indexed | 2025-11-14T07:25:40Z |
| format | Journal Article |
| id | curtin-20.500.11937-18407 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T07:25:40Z |
| publishDate | 2015 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-184072017-09-13T13:47:28Z Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome Urbanowicz, A. Downs, Jennepher Girdler, S. Ciccone, N. Leonard, H. This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. Cross-sectional data on 766 girls, aged 15 years and under, with genetically confirmed Rett syndrome was obtained from the Australian Rett Syndrome Database (ARSD) (n=244) and the International Rett Syndrome Phenotype Database (InterRett) (n=522). Relationships between MECP2 mutation type and age of regression in speech-language abilities, and the level of speech-language abilities before and after this regression were investigated. The females had a median age of 4.95 years in the ARSD and 5.25 years in InterRett. The majority (89%, 685/766) acquired speech-language abilities in the form of babble or words at some point in time. Of those who acquired babble or words, 85% (581/685) experienced a regression in these abilities. Those with a p.Arg133Cys mutation were the most likely to use one or more words, prior to (RRR=3.45; 95% CI 1.15-10.41) and after (RRR=5.99; 95% CI 2.00-17.92), speech-language regression. Girls with Rett syndrome vary in their use of speech and language, and in their experience of speech-language regression and these variations are partly explained by genotype. 2015 Journal Article http://hdl.handle.net/20.500.11937/18407 10.1002/ajmg.a.36871 restricted |
| spellingShingle | Urbanowicz, A. Downs, Jennepher Girdler, S. Ciccone, N. Leonard, H. Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome |
| title | Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome |
| title_full | Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome |
| title_fullStr | Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome |
| title_full_unstemmed | Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome |
| title_short | Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome |
| title_sort | aspects of speech-language abilities are influenced by mecp2 mutation type in girls with rett syndrome |
| url | http://hdl.handle.net/20.500.11937/18407 |