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

  • Samuel J. R. A. Chawner (a1), Joanne L. Doherty (a1), Hayley Moss (a1), Maria Niarchou (a1), James T. R. Walters (a1), Michael J. Owen (a1) and Marianne B. M. van den Bree (a1)...
Abstract
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 (T 1) 9.9, time 2 (T 2) 12.5) and control siblings (n = 33, mean age T 1 10.6, T 2 134).

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.

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Copyright
This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY) licence.
Corresponding author
Marianne B.M. van den Bree, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, 2nd Floor Hadyn Ellis Building, Cardiff University, Maindy Road, Cathays, Cardiff CF24 4HQ, UK. Email: vandenbreemb@cardiff.ac.uk
Footnotes
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This study was funded by the Baily Thomas Charitable Trust (2315/1), the Waterloo Foundation (WF918-1234), Wellcome Trust ISSF grant, the National Institute for Mental Health (5UO1MH101724), Medical Research Council studentship (S.J.R.A.C. 1499282), Wellcome Trust Fellowships (M.N. 110222/Z/15/Z, J.L.D. 505714), Wellcome Trust Strategic Award (503147), Medical Research Council Centre grant (G0801418) and Medical Research Council Programme grant (G0800509).

Declaration of interest

None.

Footnotes
References
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Childhood cognitive development in 22q11.2 deletion syndrome: Case–control study

  • Samuel J. R. A. Chawner (a1), Joanne L. Doherty (a1), Hayley Moss (a1), Maria Niarchou (a1), James T. R. Walters (a1), Michael J. Owen (a1) and Marianne B. M. van den Bree (a1)...
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