Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome

Urbanowicz, Anna, Downs, Jenny, Girdler, Sonya, Ciccone, Natalie and Leonard, Helen (2015) Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome. American Journal of Medical Genetics, Part A, 167 2: 354-362. doi:10.1002/ajmg.a.36871


Author Urbanowicz, Anna
Downs, Jenny
Girdler, Sonya
Ciccone, Natalie
Leonard, Helen
Title Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
Journal name American Journal of Medical Genetics, Part A   Check publisher's open access policy
ISSN 1552-4833
1552-4825
Publication date 2015-02-01
Year available 2014
Sub-type Article (original research)
DOI 10.1002/ajmg.a.36871
Open Access Status Not Open Access
Volume 167
Issue 2
Start page 354
End page 362
Total pages 9
Place of publication Hoboken, United States
Publisher John Wiley & Sons
Language eng
Formatted abstract
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.
Keyword Genotype-phenotype correlation
Language
MECP2
Regression
Rett syndrome
Speech
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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