title: Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.
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.
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Australia; School of Exercise and Health Sciences, Edith Cowan University, Perth, WA, Australia.
authors.forename: Anna
authors.initials: A
authors.lastname: Urbanowicz
authors.forename: Jenny
authors.initials: J
authors.lastname: Downs
authors.forename: Sonya
authors.initials: S
authors.lastname: Girdler
authors.forename: Natalie
authors.initials: N
authors.lastname: Ciccone
authors.forename: Helen
authors.initials: H
authors.lastname: Leonard
mesh_terms: D000293:Adolescent; D001315:Australia / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D007802:Language; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D015518:Rett Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D013060:Speech
chemical_list: D051783:Methyl-CpG-Binding Protein 2
keywords: MECP2; Rett syndrome; genotype-phenotype correlation; language; regression; speech