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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 6 of 6 1 “It just fits my needs better”: Autistic students and parents’ experiences of learning from home during the early phase of the COVID-19 pandemic ... Heyworth, Melanie; Brett, Simon; Houting, Jacquiline den. - : SAGE Journals, 2021 BASE Show details 2 “It just fits my needs better”: Autistic students and parents’ experiences of learning from home during the early phase of the COVID-19 pandemic ... Heyworth, Melanie; Brett, Simon; Houting, Jacquiline den. - : SAGE Journals, 2021 BASE Show details 3 Communication: How do females with Rett syndrome perform this activity and what factors influence performance? Urbanowicz, Anna. - : Edith Cowan University, Research Online, Perth, Western Australia, 2016 In: Theses: Doctorates and Masters (2016) BASE Show details 4 An exploration of the use of eye gaze and gestures in females with Rett syndrome. Urbanowicz, Anna; Downs, Jenny; Girdler, Sonya. - : American Speech - Language - Hearing Association, 2016 BASE Show details 5 Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome Urbanowicz, Anna; Downs, Jenny; Girdler, Sonya... In: Research outputs 2014 to 2021 (2015) BASE Show details 6 Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome Urbanowicz, Anna; Downs, Jenny; Girdler, Sonya; Ciccone, Natalie; Leonard, Helen. - : John Wiley & Sons, 2015 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: 1311 Genetics; 2716 Genetics (clinical); Genotype-phenotype correlation; Language; MECP2; Regression; Rett syndrome; Speech URL: https://espace.library.uq.edu.au/view/UQ:394190 BASE Hide details

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