Authors:
Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H.
Authors notes:
Am J Med Genet Part A. 2015;167(2):354-62.
Keywords:
Rett syndrome, MECP2, speech, language, regression, genotype–phenotype correlation
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%) acquired speech-language abilities in the form of babble or words at some point in time.
Of those who acquired babble or words, 85% experienced a regression in these abilities.
Those with a p.Arg133Cys mutation were the most likely to use one or more words, prior to and after, 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.