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The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome

Waite, Jane (2012)
Ph.D. thesis, University of Birmingham.

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Abstract

In a series of studies, repetitive behaviour, executive function development and the links between these constructs were explored in Rubinstein-Taybi syndrome (RTS). An overview of these constructs provided evidence that executive dysfunction might underpin repetitive behaviour and justified the use of a developmental trajectory approach. Repetitive behaviour was explored in RTS in relation to Autism Spectrum Disorder (ASD), Down and Fragile-X syndromes. Body stereotypy and repetitive questioning occurred at a similar frequency in RTS and ASD, but repetitive phrases occurred less frequently in RTS. A test battery was compiled and administered to profile the developmental trajectories of executive functions in
RTS relative to typically developing children. Executive function development was delayed in RTS relative to mental age. Finally, the relationships between executive function
development and repetitive behaviour were explored in RTS using correlational analyses. Repetitive questioning was related to poorer scores on verbal working memory and inhibition measures. Adherence to routines was related to poorer scores on a measure of shifting and emotional regulation, and completing behaviour was related to poorer scores on shifting measures. These findings highlight the merit of studying executive function development in disorder groups and that pathways can be mapped between cognition and behaviour. The implications of these findings for research and practice are discussed.

Type of Work:Ph.D. thesis.
Supervisor(s):Oliver, Christopher and Beck, Sarah R.
School/Faculty:Colleges (2008 onwards) > College of Life & Environmental Sciences
Department:School of Psychology
Subjects:BF Psychology
Institution:University of Birmingham
ID Code:3548
This unpublished thesis/dissertation is copyright of the author and/or third parties. The intellectual property rights of the author or third parties in respect of this work are as defined by The Copyright Designs and Patents Act 1988 or as modified by any successor legislation. Any use made of information contained in this thesis/dissertation must be in accordance with that legislation and must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the permission of the copyright holder.
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