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White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline

Published online by Cambridge University Press:  16 November 2017

Jasper Olivier Nuninga ,
Marc Marijn Bohlken ,
Sanne Koops ,
Ania M. Fiksinski ,
René C. W. Mandl ,
Elemi J. Breetvelt ,
Sasja N. Duijff ,
René S. Kahn ,
Iris E. C. Sommer  and
Jacob A. S. Vorstman
Jasper Olivier Nuninga
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
Marc Marijn Bohlken*
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
Sanne Koops
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
Ania M. Fiksinski
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
René C. W. Mandl
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
Elemi J. Breetvelt
Affiliation:
Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Sasja N. Duijff
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
René S. Kahn
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands Department of Psychiatry, Icahn School of Medicine, Mount Sinai, New York, USA
Iris E. C. Sommer
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
Jacob A. S. Vorstman
Affiliation:
Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands Department of Psychiatry, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
*
Address for correspondence: Marc Marijn Bohlken, E-mail: [email protected]
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Abstract

Background

Decline in cognitive functioning precedes the first psychotic episode in the course of schizophrenia and is considered a hallmark symptom of the disorder. Given the low incidence of schizophrenia, it remains a challenge to investigate whether cognitive decline coincides with disease-related changes in brain structure, such as white matter abnormalities. The 22q11.2 deletion syndrome (22q11DS) is an appealing model in this context, as 25% of patients develop psychosis. Furthermore, we recently showed that cognitive decline also precedes the onset of psychosis in individuals with 22q11DS. Here, we investigate whether the early cognitive decline in patients with 22q11DS is associated with alterations in white matter microstructure.

Methods

We compared the fractional anisotropy (FA) of white matter in 22q11DS patients with cognitive decline [n = 16; −18.34 (15.8) VIQ percentile points over 6.80 (2.39) years] to 22q11DS patients without cognitive decline [n = 18; 17.71 (20.17) VIQ percentile points over 5.27 (2.03) years] by applying an atlas-based approach to diffusion-weighted imaging data.

Results

FA was significantly increased (p < 0.05, FDR) in 22q11DS patients with a cognitive decline in the bilateral superior longitudinal fasciculus, the bilateral cingulum bundle, all subcomponents of the left internal capsule and the left superior frontal-occipital fasciculus as compared with 22q11DS patients without cognitive decline.

Conclusions

Within 22q11DS, the early cognitive decline is associated with microstructural differences in white matter. At the mean age of 17.8 years, these changes are reflected in increased FA in several tracts. We hypothesize that similar brain alterations associated with cognitive decline take place early in the trajectory of schizophrenia.

Keywords

22q11DSDTIintelligenceschizophreniawhite matter
Type
Original Articles
Information
Psychological Medicine , Volume 48 , Issue 10 , July 2018 , pp. 1655 - 1663
Copyright
Copyright © Cambridge University Press 2017 

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Footnotes

†

Authors contributed equally to this manuscript.

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