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1. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Thygesen, Johan H, Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Lin, Kuang, Alizadeh, Behrooz Z, Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Liewe, de Zwarte, Sonja MC, Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen, Luykx, Jurjen J, Mata, Igancio, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel, Picchioni, Marco, Prata, Diana P, Ranlund, Siri, Rujescu, Dan, Rutten, Bart PF, Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia JP, Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje, van Os, Jim, van Winkel, Ruud, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M, Murray, Robin M, and Bramon, Elvira

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Human Genome, Clinical Research, Brain Disorders, Serious Mental Illness, Schizophrenia, Neurosciences, Genetics, Prevention, Mental Health, 2.1 Biological and endogenous factors, 2.3 Psychological, social and economic factors, Aetiology, Mental health, Cognition, DNA Copy Number Variations, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Psychotic Disorders, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb,

Published
2021

2. Investigating the Impact of Social Contact, Coping Strategies, and Social Cognition on Loneliness and Psychological Distress in Older Adults during the COVID-19 Pandemic: An Online Survey

Author

Presman, Amelia

Subjects
Coronavirus, Social Contact, COVID-19, Social Distancing, Older Adults
Abstract

This study investigated factors associated with wellbeing in 114 older adults (aged ≥70) during the COVID-19 pandemic; namely, the effects of social contact, coping strategies, and social cognition. Data was collected through an online survey. The relationships between variables were investigated using multiple linear regression. Qualitative data on wellbeing and coping strategies was also collected and analysed using content analysis. Results showed that participants who lived alone reported higher levels of psychological distress than those who lived with someone else. Higher face-to-face social contact with people from outside of one’s household was associated with lower reported distress; however, virtual social contact and attendance of organised online groups were not associated with distress. Negative coping strategies, including denial, self-blame, and behavioural disengagement were associated with higher distress, whereas Theory-of-Mind ability and cognitive empathy were associated with lower distress. Additionally, the negative relationship between face-to-face social contact and distress was stronger in participants who lived with someone than in participants who lived alone. There was also a suggestion that social cognition, namely cognitive and affective empathy, may moderate the relationship between social contact and distress. This research is important for understanding how older adults can be supported during the COVID-19 pandemic, and implications are discussed. Further research with larger and more representative samples is needed to clarify and confirm these effects. Further research also needs to focus on experiences of carers and cared-for individuals during the COVID-19 pandemic.

Published
2021
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3. Genetic copy number variants, cognition and psychosis: a meta analysis and a family study

Author

Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Crespo Facorro, Benedicto, Bramon, Elvira, and Universidad de Sevilla. Departamento de Psiquiatría

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb

Published
2021

4. Genetic copy number variants, cognition and psychosis: a meta analysis and a family study

Author

Universidad de Sevilla. Departamento de Psiquiatría, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Crespo Facorro, Benedicto, Bramon, Elvira, Universidad de Sevilla. Departamento de Psiquiatría, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Crespo Facorro, Benedicto, and Bramon, Elvira

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Published
2021

5. Genetic copy number variants, cognition and psychosis:a meta-analysis and a family study

Author

Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Liewe, de Zwarte, Sonja M.C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen, Luykx, Jurjen J., Mata, Igancio, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel, Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P.F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J.P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje, van Os, Jim, van Winkel, Ruud, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., Bramon, Elvira, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Liewe, de Zwarte, Sonja M.C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen, Luykx, Jurjen J., Mata, Igancio, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel, Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P.F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J.P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje, van Os, Jim, van Winkel, Ruud, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., and Bramon, Elvira

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Published
2021

6. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Medical Research Council (UK), Wellcome Trust, NIHR Biomedical Research Centre (UK), NHS Foundation Trust, University College London, National Institute for Health Research (UK), European Research Council, European Commission, Instituto de Salud Carlos III, Fundació Seny, Fundación Ramón Areces, Fundación Marques de Valdecilla, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline B., Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Lieuwe, Zwarte, Sonja M. C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen V., Kahn, René S., Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen M., Luykx, Jurjen J., Mata, Ignacio F., McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel A., Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P. F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J. P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje E. M., Os, Jim van, Winkel, Ruud van, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., Bramon, Elvira, Medical Research Council (UK), Wellcome Trust, NIHR Biomedical Research Centre (UK), NHS Foundation Trust, University College London, National Institute for Health Research (UK), European Research Council, European Commission, Instituto de Salud Carlos III, Fundació Seny, Fundación Ramón Areces, Fundación Marques de Valdecilla, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline B., Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Lieuwe, Zwarte, Sonja M. C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen V., Kahn, René S., Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen M., Luykx, Jurjen J., Mata, Ignacio F., McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel A., Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P. F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J. P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje E. M., Os, Jim van, Winkel, Ruud van, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., and Bramon, Elvira

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Published
2020

7. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Thygesen, Johan H., primary, Presman, Amelia, additional, Harju-Seppänen, Jasmine, additional, Irizar, Haritz, additional, Jones, Rebecca, additional, Kuchenbaecker, Karoline, additional, Lin, Kuang, additional, Alizadeh, Behrooz Z., additional, Austin-Zimmerman, Isabelle, additional, Bartels-Velthuis, Agna, additional, Bhat, Anjali, additional, Bruggeman, Richard, additional, Cahn, Wiepke, additional, Calafato, Stella, additional, Crespo-Facorro, Benedicto, additional, de Haan, Liewe, additional, de Zwarte, Sonja M. C., additional, Di Forti, Marta, additional, Díez-Revuelta, Álvaro, additional, Hall, Jeremy, additional, Hall, Mei-Hua, additional, Iyegbe, Conrad, additional, Jablensky, Assen, additional, Kahn, Rene, additional, Kalaydjieva, Luba, additional, Kravariti, Eugenia, additional, Lawrie, Stephen, additional, Luykx, Jurjen J., additional, Mata, Igancio, additional, McDonald, Colm, additional, McIntosh, Andrew M., additional, McQuillin, Andrew, additional, Muir, Rebecca, additional, Ophoff, Roel, additional, Picchioni, Marco, additional, Prata, Diana P., additional, Ranlund, Siri, additional, Rujescu, Dan, additional, Rutten, Bart P. F., additional, Schulze, Katja, additional, Shaikh, Madiha, additional, Schirmbeck, Frederike, additional, Simons, Claudia J. P., additional, Toulopoulou, Timothea, additional, van Amelsvoort, Therese, additional, van Haren, Neeltje, additional, van Os, Jim, additional, van Winkel, Ruud, additional, Vassos, Evangelos, additional, Walshe, Muriel, additional, Weisbrod, Matthias, additional, Zartaloudi, Eirini, additional, Bell, Vaughan, additional, Powell, John, additional, Lewis, Cathryn M., additional, Murray, Robin M., additional, and Bramon, Elvira, additional

Published
2020
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8. F58EFFECTS OF COPY NUMBER VARIANTS ON COGNITION: A META-ANALYSIS AND FAMILY STUDY

Author

Thygesen, Johan, primary, Presman, Amelia, additional, Calafato, Stella, additional, Harju-Seppänen, Jasmine, additional, Zartaloudi, Eirini, additional, Irizar, Haritz, additional, Cahn, Wiepke, additional, Jablensky, Assen, additional, Kravariti, Eugenia, additional, McIntosh, Andrew, additional, Rujescu, Dan, additional, Toulopoulou, Timothea, additional, Murray, Robin, additional, and Bramon, Elvira, additional

Published
2019
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9. Genetic Copy Number Variants, Cognition and Psychosis: A Meta-analysis and a Family Study

Author

Thygesen, Johan Hilge, Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Calafato, Stella, Zartaloudi, Eirini, Jones, Rebecca, Ranlund, Siri, Kuchenbaecker, Karoline, Lin, Kuang, Cahn, Wiepke, Crespo-Facorro, Benedicto, de Zwarte, Sonja MC, Austin-Zimmerman, Isabelle, Bhat, Anjali, Díez, Álvaro, Di Forti, Marta, Genetic Risk And Outcome Of Psychosis (GROUP), Iyegbe, Conrad, Jablensky, Assen, Hall, Mei-Hua, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Muir, Rebecca, Psychosis Endophenotypes International Consortium (PEIC), Picchioni, Marco, Prata, Diana P, Rujescu, Dan, Schulze, Katja, Shaikh, Madiha, Toulopoulou, Timothea, van Haren, Neeltje, van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Wellcome Trust Case Control Consortium 2 (WTCCC2), Bell, Vaughan, Powell, John, Lewis, Cathryn, Murray, Robin M, and Bramon, Elvira

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, CNVs, schizophrenia, cognition, endocrine system diseases, mental disorders, 3. Good health
Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included 10 primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200Kb

10. Genetic Copy Number Variants, Cognition and Psychosis: A Meta-analysis and a Family Study

Author

Thygesen, Johan Hilge, Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Calafato, Stella, Zartaloudi, Eirini, Jones, Rebecca, Ranlund, Siri, Kuchenbaecker, Karoline, Lin, Kuang, Cahn, Wiepke, Crespo-Facorro, Benedicto, de Zwarte, Sonja MC, Austin-Zimmerman, Isabelle, Bhat, Anjali, Díez, Álvaro, Di Forti, Marta, Genetic Risk and Outcome of Psychosis (GROUP), Iyegbe, Conrad, Jablensky, Assen, Hall, Mei-Hua, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Muir, Rebecca, Psychosis Endophenotypes International Consortium (PEIC), Picchioni, Marco, Prata, Diana P, Rujescu, Dan, Schulze, Katja, Shaikh, Madiha, Toulopoulou, Timothea, van Haren, Neeltje, van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Wellcome Trust Case Control Consortium 2 (WTCCC2), Bell, Vaughan, Powell, John, Lewis, Cathryn, Murray, Robin M, and Bramon, Elvira

Subjects
CNVs, schizophrenia, cognition, mental disorders, 3. Good health
Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVsincrease the risk of developing schizophrenia. Several cognitive measures are purportedschizophrenia endophenotypes andmayrepresent an intermediate point between genetics and theillness.This paper investigates the influence of CNVs on cognition. We conducted a systematicreview and meta-analysis of the literature exploring the effect of CNV burden on generalintelligence. We included 10 primary studies with a total of 18,847 participants and found noevidence ofassociation. In a new psychosis family study, we investigated the effects of CNVs onspecific cognitive abilities. We examined the burden of large andrare CNVs (>200Kb

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