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Cognitive development in children with 22q11.2 deletion syndrome

  • Sasja N. Duijff (a1), Petra W. J. Klaassen (a1), Henriette F. N. Swanenburg de Veye (a1), Frits A. Beemer (a2), Gerben Sinnema (a1) and Jacob A. S. Vorstman (a3)...

Abstract

Background

People with 22q11.2 deletion syndrome (velo-cardio-facial syndrome) have a 30-fold risk of developing schizophrenia. In the general population the schizophrenia phenotype includes a cognitive deficit and a decline in academic performance preceding the first episode of psychosis in a subgroup of patients. Findings of cross-sectional studies suggest that cognitive abilities may decline over time in some children with 22q11.2 deletion syndrome. If confirmed longitudinally, this could indicate that one or more genes within 22q11.2 are involved in cognitive decline.

Aims

To assess longitudinally the change in IQ scores in children with 22q11.2 deletion syndrome.

Method

Sixty-nine children with the syndrome were cognitively assessed two or three times at set ages 5.5 years, 7.5 years and 9.5 years.

Results

A mean significant decline of 9.7 Full Scale IQ points was found between ages 5.5 years and 9.5 years. In addition to the overall relative decline that occurred when results were scored according to age-specific IQ norms, in 10 out of a group of 29 children an absolute decrease in cognitive raw scores was found between ages 7.5 years and 9.5 years. The decline was not associated with a change in behavioural measures.

Conclusions

The finding of cognitive decline can be only partly explained as the result of ‘growing into deficit’; about a third of 29 children showed an absolute loss of cognitive faculties. The results underline the importance of early psychiatric screening in this population and indicate that further study of the genes at the 22q11.2 locus may be relevant to understanding the genetic basis of early cognitive deterioration.

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Copyright

Corresponding author

Sasja N. Duijff, University Medical Centre Utrecht, Department of Paediatric Psychology, KA.00.004.0, PO Box 85090, 3508 AB Utrecht, The Netherlands. Email: S.Duijff@umcutrecht.nl

Footnotes

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Declaration of interest

None.

Footnotes

References

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Cognitive development in children with 22q11.2 deletion syndrome

  • Sasja N. Duijff (a1), Petra W. J. Klaassen (a1), Henriette F. N. Swanenburg de Veye (a1), Frits A. Beemer (a2), Gerben Sinnema (a1) and Jacob A. S. Vorstman (a3)...

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Cognitive development in children with 22q11.2 deletion syndrome

  • Sasja N. Duijff (a1), Petra W. J. Klaassen (a1), Henriette F. N. Swanenburg de Veye (a1), Frits A. Beemer (a2), Gerben Sinnema (a1) and Jacob A. S. Vorstman (a3)...
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