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Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
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), an...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556702/ https://www.ncbi.nlm.nih.gov/pubmed/28806899 http://dx.doi.org/10.1186/s11689-017-9208-7 |
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author | Reid, Donna Moss, Jo Nelson, Lisa Groves, Laura Oliver, Chris |
author_facet | Reid, Donna Moss, Jo Nelson, Lisa Groves, Laura Oliver, Chris |
author_sort | Reid, Donna |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-5556702 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-55567022017-08-16 Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance Reid, Donna Moss, Jo Nelson, Lisa Groves, Laura Oliver, Chris J Neurodev Disord Research 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. BioMed Central 2017-08-15 /pmc/articles/PMC5556702/ /pubmed/28806899 http://dx.doi.org/10.1186/s11689-017-9208-7 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Reid, Donna Moss, Jo Nelson, Lisa Groves, Laura Oliver, Chris Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance |
title | Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance |
title_full | Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance |
title_fullStr | Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance |
title_full_unstemmed | Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance |
title_short | Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance |
title_sort | executive functioning in cornelia de lange syndrome: domain asynchrony and age-related performance |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556702/ https://www.ncbi.nlm.nih.gov/pubmed/28806899 http://dx.doi.org/10.1186/s11689-017-9208-7 |
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