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Journal of Neurodevelopmental Disorders
Published in: Journal of Neurodevelopmental Disorders 1/2017

Open Access 01-12-2017 | Research

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

Authors: Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver

Published in: Journal of Neurodevelopmental Disorders | Issue 1/2017

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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.
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Metadata
Title
Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
Authors
Donna Reid
Jo Moss
Lisa Nelson
Laura Groves
Chris Oliver
Publication date
01-12-2017
Publisher
BioMed Central
Published in
Journal of Neurodevelopmental Disorders / Issue 1/2017
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI
https://doi.org/10.1186/s11689-017-9208-7

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