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

Urbanowicz, A, Downs, J, Girdler, S, Ciccone, N and Leonard, H 2015, 'Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome', American Journal of Medical Genetics, Part A, vol. 167, no. 2, pp. 354-362.


Document type: Journal Article
Collection: Journal Articles

Title Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome
Author(s) Urbanowicz, A
Downs, J
Girdler, S
Ciccone, N
Leonard, H
Year 2015
Journal name American Journal of Medical Genetics, Part A
Volume number 167
Issue number 2
Start page 354
End page 362
Total pages 9
Publisher John Wiley & Sons
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.
Subject Developmental Psychology and Ageing
Keyword(s) Genotype-phenotype correlation
Language
MECP2
Regression
Rett syndrome
Speech
DOI - identifier 10.1002/ajmg.a.36871
Copyright notice © 2014 Wiley Periodicals, Inc.
ISSN 1552-4825
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 12 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 0 times in Scopus Article
Altmetric details:
Access Statistics: 6 Abstract Views  -  Detailed Statistics
Created: Thu, 06 Dec 2018, 10:39:00 EST by Catalyst Administrator
© 2014 RMIT Research Repository • Powered by Fez SoftwareContact us