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Executive functioning in Cornelia de Lange Syndrome

Reid, Donna (2010)
Clin.Psy.D. thesis, University of Birmingham.

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Cornelia de Lange Syndrome (CdLS) is a genetic disorder caused by mutations to Chromosomes 5, 10 or X. In addition to mild to profound intellectual disability and the distinctive physical phenotype, emerging evidence has suggested a number of age-related changes in behaviour occurring during adolescence and early adulthood. including an increase in preference for routine and repetitive behaviours. Research into executive functioning and behaviour in other neurodevelopmental disorders, suggests that behaviours that are phenotypic of a syndrome are underpinned by specific executive functioning impairments. This study aims to examine the executive functioning profile in adolescents and adults with CdLS. Twenty-four participants with CdLS aged 13-42 years (M = 22), and a comparable contrast group of 21 individuals with Down syndrome aged 15-33 years (M = 24), participated in the study. A range of measures were selected to test executive functioning ability. The group of participants with CdLS showed significantly more impairment in generativity, flexibility and inhibition tasks. These relative deficits may be important in understanding the behavioural phenotype of CdLS. Longitudinal research of participants with CdLS from early childhood is needed to examine how changes in executive functioning map onto changes in behaviour. Limitations and future research directions are discussed.

Type of Work:Clin.Psy.D. thesis.
Supervisor(s):Oliver, Christopher
School/Faculty:Colleges (2008 onwards) > College of Life & Environmental Sciences
Department:School of Psychology
Subjects:BF Psychology
Institution:University of Birmingham
ID Code:1170
This unpublished thesis/dissertation is copyright of the author and/or third parties.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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