Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs)

Hall, Jessica H., Chawner, Samuel J. R. A., Wolstencroft, Jeanne, Skuse, David, Hall, Jeremy ORCID: https://orcid.org/0000-0003-2737-9009, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862 and van den Bree, Marianne B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14 (1) , 259. 10.1038/s41398-024-02975-z

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Abstract

A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high neurodevelopmental and psychiatric risk (ND-CNVs). Irritability is frequently observed in childhood neurodevelopmental conditions, yet its aetiology is largely unknown. Genetic variation may play a role, but there is a sparsity of studies investigating the presentation of irritability in young people with ND-CNVs. This study aimed to investigate whether there is a difference in irritability in young people with rare ND-CNVs compared to those without ND-CNVs, and to what extent irritability is associated with psychiatric diagnoses and cognitive ability (IQ). Irritability and broader psychopathology were assessed in 485 young people with ND-CNVs and 164 sibling controls, using the child and adolescent psychiatric assessment. Autism was assessed using the social communication questionnaire, and intelligence quotient (IQ) by the Wechsler abbreviated scale of intelligence. Fifty four percent of young people with ND-CNVs met the threshold for irritability; significantly more than controls (OR = 3.77, CI = 3.07–7.90, p = 5.31 × 10−11). When controlling for the presence of other psychiatric comorbidities, ND-CNV status was still associated with irritability. There was no evidence for a relationship between irritability and IQ. Irritability is an important aspect of the clinical picture in young people with ND-CNVs. This work shows that genetic variation is associated with irritability in young people with ND-CNVs, independent of psychiatric comorbidities or IQ impairment. Clinicians should be aware of this increased risk to inform management and interventions.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Additional Information:	License information from Publisher: LICENSE 1: URL: http://creativecommons.org/licenses/by/4.0/, Type: open-access
Publisher:	Springer Nature
ISSN:	2158-3188
Date of First Compliant Deposit:	19 June 2024
Date of Acceptance:	3 June 2024
Last Modified:	19 Jun 2024 09:19
URI:	https://orca.cardiff.ac.uk/id/eprint/169901

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