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      Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology

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          Abstract

          22q11.2 Deletion Syndrome (22q11.2DS) is associated with high risk of psychiatric disorders and cognitive impairment. It remains unclear to what extent key cognitive skills are associated with psychopathology, and whether cognition is stable over time in 22q11.2DS. 236 children, adolescents and adults with 22q11.2DS and 106 typically developing controls were recruited from three sites across Europe. Measures of IQ, processing speed, sustained attention, spatial working memory and psychiatric assessments were completed. Cognitive performance in individuals was calculated relative to controls in different age groups (children (6–9 years), adolescents (10–17 years), adults (18+ years)). Individuals with 22q11.2DS exhibited cognitive impairment and higher rates of psychiatric disorders compared to typically developing controls. Presence of Autism Spectrum Disorder symptoms was associated with greater deficits in processing speed, sustained attention and working memory in adolescents but not children. Attention deficit hyperactivity disorder in children and adolescents and psychotic disorder in adulthood was associated with sustained attention impairment. Processing speed and working memory were more impaired in children and adults with 22q11.2DS respectively, whereas the deficit in sustained attention was present from childhood and remained static over developmental stages. Psychopathology was associated with cognitive profile of individuals with 22q11.2DS in an age-specific and domain-specific manner. Furthermore, magnitude of cognitive impairment differed by developmental stage in 22q11.2DS and the pattern differed by domain.

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              Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

              The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI).
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                Author and article information

                Contributors
                vandenbreemb@cardiff.ac.uk
                Journal
                Transl Psychiatry
                Transl Psychiatry
                Translational Psychiatry
                Nature Publishing Group UK (London )
                2158-3188
                3 February 2020
                3 February 2020
                2020
                : 10
                : 53
                Affiliations
                [1 ]ISNI 0000 0001 0807 5670, GRID grid.5600.3, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, , Cardiff University, ; Cardiff, Wales UK
                [2 ]ISNI 0000 0001 0481 6099, GRID grid.5012.6, Department of Psychiatry and Psychology, , Maastricht University, ; Maastricht, The Netherlands
                [3 ]ISNI 0000 0001 0668 7884, GRID grid.5596.f, Department of Human Genetics, Faculty of Medicine, , KU Leuven, ; Leuven, Belgium
                [4 ]ISNI 0000 0004 0626 3338, GRID grid.410569.f, Center for Human Genetics, , University Hospitals Leuven, ; Leuven, Belgium
                [5 ]ISNI 0000000404654431, GRID grid.5650.6, Department of Radiology and Nuclear Medicine, , Amsterdam University Medical Centers (Location Academic Medical Center), ; Amsterdam, The Netherlands
                [6 ]ISNI 0000 0004 0626 3338, GRID grid.410569.f, University Psychiatric Center KU Leuven, , University Hospital Leuven, ; Leuven, Belgium
                Author information
                http://orcid.org/0000-0002-2193-3833
                http://orcid.org/0000-0002-9229-6077
                Article
                736
                10.1038/s41398-020-0736-7
                7026075
                32066691
                9dfbd77b-e40e-47e0-8633-70718bb5f244
                © The Author(s) 2020

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 4 July 2019
                : 2 January 2020
                : 13 January 2020
                Funding
                Funded by: FundRef https://doi.org/10.13039/501100000265, RCUK | Medical Research Council (MRC);
                Award ID: MR/L010305/1
                Award Recipient :
                Funded by: FundRef https://doi.org/10.13039/100012068, Health and Care Research Wales (Ymchwil Iechyd a Gofal Cymru);
                Award ID: 507556
                Award Recipient :
                Categories
                Article
                Custom metadata
                © The Author(s) 2020

                Clinical Psychology & Psychiatry
                human behaviour,medical genetics
                Clinical Psychology & Psychiatry
                human behaviour, medical genetics

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