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Childhood cognitive development in 22q11.2 deletion syndrome: case–control study

Chawner, Samuel, Doherty, Joanne L., Moss, Hayley, Niarchou, Maria ORCID:, Walters, James ORCID:, Owen, Michael J. ORCID: and Van Den Bree, Marianne Bernadette ORCID: 2017. Childhood cognitive development in 22q11.2 deletion syndrome: case–control study. British Journal of Psychiatry 211 (4) , pp. 223-230. 10.1192/bjp.bp.116.195651

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Background 22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample. Aims To compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings. Method A longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS (n = 75, mean age time 1 (T1) 9.9, time 2 (T2) 12.5) and control siblings (n = 33, mean age T1 10.6, T2 13.4). Results Children with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality. Conclusions Childhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function to identifying individual children with 22q11.2DS at high risk of developing schizophrenia.

Item Type: Article
Date Type: Published Online
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > R Medicine (General)
Publisher: Royal College of Psychiatrists
ISSN: 0007-1250
Date of First Compliant Deposit: 29 June 2017
Date of Acceptance: 12 June 2017
Last Modified: 12 May 2023 18:56

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