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. 2017 Sep 11;9(1):33.
doi: 10.1186/s11689-017-9213-x.

An experimental study of executive function and social impairment in Cornelia de Lange syndrome

Lisa Nelson  1   2 , Hayley Crawford  3   4 , Donna Reid  1 , Joanna Moss  1   5 , Chris Oliver  1
Affiliations

An experimental study of executive function and social impairment in Cornelia de Lange syndrome

Lisa Nelson et al. J Neurodev Disord. .

Abstract

Background: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning.

Methods: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22.16; SD = 8.81) and a comparable group of individuals with Down syndrome (DS; n = 20; % male = 35; mean age = 24.35; SD = 5.97). Behaviours indicative of social anxiety were coded. The Behavior Rating Inventory of Executive Function-Preschool version, an informant measure of executive function, was completed by participants' caregivers.

Results: Significantly less verbalisation was observed in the CdLS group than the DS group in conditions requiring the initiation of speech. In the CdLS group, impairments in verbalisation were not associated with a greater degree of intellectual disability but were significantly correlated with impairments in both planning and working memory. This association was not evident in the DS group.

Conclusions: Adolescents and adults with CdLS have a specific difficulty with the initiation of speech when social demands are placed upon them. This impairment in verbalisation may be underpinned by specific cognitive deficits, although further research is needed to investigate this fully.

Keywords: Cornelia de Lange syndrome; Down syndrome; Executive function; Social anxiety.

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Conflict of interest statement

Ethics approval and consent to participate

Ethical approval for the current study was obtained from the School of Psychology Ethical Review Board at the University of Birmingham. Participants aged 16 and above provided written consent to participate. Parents of children aged below 16 years provided written consent on behalf of their children.

Consent for publication

Not applicable.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Participant outcome variables for the Down syndrome and Cornelia de Lange syndrome groups; asterisk indicates significant between-groups difference (p < .005)
Fig. 2
Fig. 2
Examiner outcome variables for the Down syndrome and Cornelia de Lange syndrome groups; asterisk indicates significant between-groups difference (p < .005)
See this image and copyright information in PMC

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References

    1. Oliver C, Horsler K, Berg K, Bellamy G, Dick K, Griffiths E. Genomic imprinting and the expression of affect in Angelman syndrome. What’s in the smile? J Child Psychol Psychiatry. 2007;48:571–579. doi: 10.1111/j.1469-7610.2007.01736.x. - DOI - PubMed
    1. Jones W, Bellugi U, Lai Z, Chiles M, Reilly J, Lincoln A, Adolphs R., II Hypersociability in Williams syndrome. Cognitive Neuroscience. 2000;12:30–46. doi: 10.1162/089892900561968. - DOI - PubMed
    1. Cordeiro L, Ballinger E, Hagerman R, Hessl D. Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord. 2011;3:57–67. doi: 10.1007/s11689-010-9067-y. - DOI - PMC - PubMed
    1. Kasari C, Freeman SF. Task-related social behavior in children with Down syndrome. Am J Ment Retard. 2001;106:253–264. doi: 10.1352/0895-8017(2001)106<0253:TRSBIC>2.0.CO;2. - DOI - PubMed
    1. Beck B. Epidemiology of Cornelia de Lange’s syndrome. Acta Paediatr. 1976;65:631–638. doi: 10.1111/j.1651-2227.1976.tb04943.x. - DOI - PubMed