Home
Catalogue search
Refine your search:
Keyword:
Genotype-phenotype correlation (2)
Language (2)
MECP2 (2)
Regression (2)
Rett syndrome (2)
Speech (2)
1203 Language and Linguistics (1)
1311 Genetics (1)
2716 Genetics (clinical) (1)
3310 Linguistics and Language (1)
more
Creator / Publisher:
Ciccone, Natalie (3)
Downs, Jenny (3)
Girdler, Sonya (3)
Leonard, Helen (3)
Urbanowicz, Anna (3)
Year:
2016 (1)
2015 (2)
Medium:
Online (3)
Type:
Article (3)
BLLDB-Access
Search in the Catalogues and Directories
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 – 3 of 3
1
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
2
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
3
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
Mobile view
All
Catalogues
UB Frankfurt Linguistik
0
IDS Mannheim
0
OLC Linguistik
0
UB Frankfurt Retrokatalog
0
DNB Subject Category Language
0
Institut für Empirische Sprachwissenschaft
0
Leibniz-Centre General Linguistics (ZAS)
0
Bibliographies
BLLDB
0
BDSL
0
IDS Bibliografie zur deutschen Grammatik
0
IDS Bibliografie zur Gesprächsforschung
0
IDS Konnektoren im Deutschen
0
IDS Präpositionen im Deutschen
0
IDS OBELEX meta
0
MPI-SHH Linguistics Collection
0
MPI for Psycholinguistics
0
Linked Open Data catalogues
Annohub
0
Online resources
Link directory
0
Journal directory
0
Database directory
0
Dictionary directory
0
Open access documents
BASE
3
Linguistik-Repository
0
IDS Publikationsserver
0
Online dissertations
0
Language Description Heritage
0
© 2013 - 2024 Lin|gu|is|tik
|
Imprint
|
Privacy Policy
|
Datenschutzeinstellungen ändern