Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

Research output: Contribution to journalArticle

Authors

Colleges, School and Institutes

External organisations

  • Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham B15 2TT, UK.

Abstract

BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests.

RESULTS: Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS.

CONCLUSIONS: The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.

Details

Original languageEnglish
Article number29
JournalJournal of Neurodevelopmental Disorders
Volume9
Publication statusPublished - 15 Aug 2017

Keywords

  • Cornelia de Lange, CdLS, Executive functioning, Behavioural phenotype