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Title: Executive functioning in Cornelia de Lange Syndrome
Author: Reid, Donna
ISNI:       0000 0004 2696 801X
Awarding Body: University of Birmingham
Current Institution: University of Birmingham
Date of Award: 2010
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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.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Clin.Psy.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available
Keywords: BF Psychology