Search

Your search keyword '"Thibaut, Florence"' showing total 136 results
Start Over Author "Thibaut, Florence" Search Limiters Full Text
136 results on '"Thibaut, Florence"'

1. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author

Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B., Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A., Hall, Lynsey S., Lam, Max, Watanabe, Kyoko, Frei, Oleksandr, Ge, Tian, Harwood, Janet C., Koopmans, Frank, Magnusson, Sigurdur, Richards, Alexander L., Sidorenko, Julia, Wu, Yang, Zeng, Jian, Grove, Jakob, Kim, Minsoo, Li, Zhiqiang, Voloudakis, Georgios, Zhang, Wen, Adams, Mark, Agartz, Ingrid, Atkinson, Elizabeth G., Agerbo, Esben, Al Eissa, Mariam, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Alptekin, Köksal, Als, Thomas D., Amin, Farooq, Arolt, Volker, Arrojo, Manuel, Athanasiu, Lavinia, Azevedo, Maria Helena, Bacanu, Silviu A., Bass, Nicholas J., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Benyamin, Beben, Bergen, Sarah E., Blasi, Giuseppe, Bobes, Julio, Bonassi, Stefano, Braun, Alice, Bressan, Rodrigo Affonseca, Bromet, Evelyn J., Bruggeman, Richard, Buckley, Peter F., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cahn, Wiepke, Cairns, Murray J., Calkins, Monica E., Carr, Vaughan J., Castle, David, Catts, Stanley V., Chambert, Kimberley D., Chan, Raymond C. K., Chaumette, Boris, Cheng, Wei, Cheung, Eric F. C., Chong, Siow Ann, Cohen, David, Consoli, Angèle, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Davidson, Michael, Davis, Kenneth L., de Haan, Lieuwe, Degenhardt, Franziska, DeLisi, Lynn E., Demontis, Ditte, Dickerson, Faith, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Faraone, Stephen V., Fiorentino, Alessia, Forstner, Andreas, Frank, Josef, Freimer, Nelson B., Fromer, Menachem, Frustaci, Alessandra, Gadelha, Ary, Genovese, Giulio, Gershon, Elliot S., Giannitelli, Marianna, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I., González Peñas, Javier, González-Pinto, Ana, Gopal, Srihari, Gratten, Jacob, Green, Michael F., Greenwood, Tiffany A., Guillin, Olivier, Gülöksüz, Sinan, Gur, Raquel E., Gur, Ruben C., Gutiérrez, Blanca, Hahn, Eric, Hakonarson, Hakon, Haroutunian, Vahram, Hartmann, Annette M., Harvey, Carol, Hayward, Caroline, Henskens, Frans A., Herms, Stefan, Hoffmann, Per, Howrigan, Daniel P., Ikeda, Masashi, Iyegbe, Conrad, Joa, Inge, Julià, Antonio, Kähler, Anna K., Kam-Thong, Tony, Kamatani, Yoichiro, Karachanak-Yankova, Sena, Kebir, Oussama, Keller, Matthew C., Kelly, Brian J., Khrunin, Andrey, Kim, Sung-Wan, Klovins, Janis, Kondratiev, Nikolay, Konte, Bettina, Kraft, Julia, Kubo, Michiaki, Kučinskas, Vaidutis, Kučinskiene, Zita Ausrele, Kusumawardhani, Agung, Kuzelova-Ptackova, Hana, Landi, Stefano, Lazzeroni, Laura C., Lee, Phil H., Legge, Sophie E., Lehrer, Douglas S., Lencer, Rebecca, Lerer, Bernard, Li, Miaoxin, Lieberman, Jeffrey, Light, Gregory A., Limborska, Svetlana, Liu, Chih-Min, Lönnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Luykx, Jurjen J., Lynham, Amy, Macek, Jr, Milan, Mackinnon, Andrew, Magnusson, Patrik K. E., Maher, Brion S., Maier, Wolfgang, Malaspina, Dolores, Mallet, Jacques, Marder, Stephen R., Marsal, Sara, Martin, Alicia R., Martorell, Lourdes, Mattheisen, Manuel, McCarley, Robert W., McDonald, Colm, McGrath, John J., Medeiros, Helena, Meier, Sandra, Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I., Metspalu, Andres, Michie, Patricia T., Milani, Lili, Milanova, Vihra, Mitjans, Marina, Molden, Espen, Molina, Esther, Molto, María Dolores, Mondelli, Valeria, Moreno, Carmen, Morley, Christopher P., Muntané, Gerard, Murphy, Kieran C., Myin-Germeys, Inez, Nenadić, Igor, Nestadt, Gerald, Nikitina-Zake, Liene, Noto, Cristiano, Nuechterlein, Keith H., O’Brien, Niamh Louise, O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Ota, Vanessa Kiyomi, Pantelis, Christos, Papadimitriou, George N., Parellada, Mara, Paunio, Tiina, Pellegrino, Renata, Periyasamy, Sathish, Perkins, Diana O., Pfuhlmann, Bruno, Pietiläinen, Olli, Pimm, Jonathan, Porteous, David, Powell, John, Quattrone, Diego, Quested, Digby, Radant, Allen D., Rampino, Antonio, Rapaport, Mark H., Rautanen, Anna, Reichenberg, Abraham, Roe, Cheryl, Roffman, Joshua L., Roth, Julian, Rothermundt, Matthias, Rutten, Bart P. F., Saker-Delye, Safaa, Salomaa, Veikko, Sanjuan, Julio, Santoro, Marcos Leite, Savitz, Adam, Schall, Ulrich, Scott, Rodney J., Seidman, Larry J., Sharp, Sally Isabel, Shi, Jianxin, Siever, Larry J., Sigurdsson, Engilbert, Sim, Kang, Skarabis, Nora, Slominsky, Petr, So, Hon-Cheong, Sobell, Janet L., Söderman, Erik, Stain, Helen J., Steen, Nils Eiel, Steixner-Kumar, Agnes A., Stögmann, Elisabeth, Stone, William S., Straub, Richard E., Streit, Fabian, Strengman, Eric, Stroup, T. Scott, Subramaniam, Mythily, Sugar, Catherine A., Suvisaari, Jaana, Svrakic, Dragan M., Swerdlow, Neal R., Szatkiewicz, Jin P., Ta, Thi Minh Tam, Takahashi, Atsushi, Terao, Chikashi, Thibaut, Florence, Toncheva, Draga, Tooney, Paul A., Torretta, Silvia, Tosato, Sarah, Tura, Gian Battista, Turetsky, Bruce I., Üçok, Alp, Vaaler, Arne, van Amelsvoort, Therese, van Winkel, Ruud, Veijola, Juha, Waddington, John, Walter, Henrik, Waterreus, Anna, Webb, Bradley T., Weiser, Mark, Williams, Nigel M., Witt, Stephanie H., Wormley, Brandon K., Wu, Jing Qin, Xu, Zhida, Yolken, Robert, Zai, Clement C., Zhou, Wei, Zhu, Feng, Zimprich, Fritz, Atbaşoğlu, Eşref Cem, Ayub, Muhammad, Benner, Christian, Bertolino, Alessandro, Black, Donald W., Bray, Nicholas J., Breen, Gerome, Buccola, Nancy G., Byerley, William F., Chen, Wei J., Cloninger, C. Robert, Crespo-Facorro, Benedicto, Donohoe, Gary, Freedman, Robert, Galletly, Cherrie, Gandal, Michael J., Gennarelli, Massimo, Hougaard, David M., Hwu, Hai-Gwo, Jablensky, Assen V., McCarroll, Steven A., Moran, Jennifer L., Mors, Ole, Mortensen, Preben B., Müller-Myhsok, Bertram, Neil, Amanda L., Nordentoft, Merete, Pato, Michele T., Petryshen, Tracey L., Pirinen, Matti, Pulver, Ann E., Schulze, Thomas G., Silverman, Jeremy M., Smoller, Jordan W., Stahl, Eli A., Tsuang, Debby W., Vilella, Elisabet, Wang, Shi-Heng, Xu, Shuhua, Adolfsson, Rolf, Arango, Celso, Baune, Bernhard T., Belangero, Sintia Iole, Børglum, Anders D., Braff, David, Bramon, Elvira, Buxbaum, Joseph D., Campion, Dominique, Cervilla, Jorge A., Cichon, Sven, Collier, David A., Corvin, Aiden, Curtis, David, Forti, Marta Di, Domenici, Enrico, Ehrenreich, Hannelore, Escott-Price, Valentina, Esko, Tõnu, Fanous, Ayman H., Gareeva, Anna, Gawlik, Micha, Gejman, Pablo V., Gill, Michael, Glatt, Stephen J., Golimbet, Vera, Hong, Kyung Sue, Hultman, Christina M., Hyman, Steven E., Iwata, Nakao, Jönsson, Erik G., Kahn, René S., Kennedy, James L., Khusnutdinova, Elza, Kirov, George, Knowles, James A., Krebs, Marie-Odile, Laurent-Levinson, Claudine, Lee, Jimmy, Lencz, Todd, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Malhotra, Anil K., Malhotra, Dheeraj, McIntosh, Andrew, McQuillin, Andrew, Menezes, Paulo R., Morgan, Vera A., Morris, Derek W., Mowry, Bryan J., Murray, Robin M., Nimgaonkar, Vishwajit, Nöthen, Markus M., Ophoff, Roel A., Paciga, Sara A., Palotie, Aarno, Pato, Carlos N., Qin, Shengying, Rietschel, Marcella, Riley, Brien P., Rivera, Margarita, Rujescu, Dan, Saka, Meram C., Sanders, Alan R., Schwab, Sibylle G., Serretti, Alessandro, Sham, Pak C., Shi, Yongyong, St Clair, David, Stefánsson, Hreinn, Stefansson, Kari, Tsuang, Ming T., van Os, Jim, Vawter, Marquis P., Weinberger, Daniel R., Werge, Thomas, Wildenauer, Dieter B., Yu, Xin, Yue, Weihua, Holmans, Peter A., Pocklington, Andrew J., Roussos, Panos, Vassos, Evangelos, Verhage, Matthijs, Visscher, Peter M., Yang, Jian, Posthuma, Danielle, Andreassen, Ole A., Kendler, Kenneth S., Owen, Michael J., Wray, Naomi R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Sullivan, Patrick F., Ripke, Stephan, Walters, James T. R., and O’Donovan, Michael C.

Published
2022
Full Text
View/download PDF

2. Consensus paper of the WFSBP task force on biological markers: Biological markers for alcoholism

Author

Hashimoto, Eri, Riederer, Peter Franz, Hesselbrock, Victor M, Hesselbrock, Michie N, Mann, Karl, Ukai, Wataru, Sohma, Hitoshi, Thibaut, Florence, Schuckit, Marc A, and Saito, Toshikazu

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Behavioral and Social Science, Substance Misuse, Genetics, Brain Disorders, Alcoholism, Alcohol Use and Health, Neurosciences, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Mental health, Good Health and Well Being, Alcoholism, Biomarkers, Consensus, Humans, alcohol, biochemical markers, abuse, alcohol dependence, alcohol use disorder, Clinical Sciences, Psychiatry, Clinical sciences, Biological psychology
Abstract

ObjectivesThis article presents an overview of the current literature on biological markers for alcoholism, including markers associated with the pharmacological effects of alcohol and markers related to the clinical course and treatment of alcohol-related problems. Many of these studies are well known, while other studies cited are new and still being evaluated.MethodsIn this paper we first describe known biomarkers of alcohol-related disorders, review their features and the problems involved in their use. We then consider future developments on biomarkers and their possible impact on the field.ResultsMore recent findings cited include the work on type 7 adenylcyclase (AC) polymorphism and its lower expression levels in female alcoholics. Neuroimaging studies involving biomarkers have also reported brain volume reductions of gray and white matter, including amygdala and subcortical regions in alcoholic patients, while a high association between the copy number variations (CNVs) in 6q14.1/5q13.2 and alcohol dependence has more recently been identified in genetic studies.ConclusionsIn addition to their possible importance for diagnosis, biomarkers may have utility for predicting prognosis, progression of the disorder, the development of new treatments, and monitoring treatment effects. Although such findings should be verified in independent studies, the search for new biomarkers is continuing. Several potential candidate biomarkers have been found recently in blood, imaging, and genetic studies with encouraging results.

Published
2013

6. Gender Differences in Addiction: Clinical Implications

Author

Thibaut, Florence

Subjects
Epidemiology -- Social aspects, Female-male relations -- Social aspects, Public health -- Social aspects, Youth, Women, Illegal drugs, Newborn infants, Drinking (Alcoholic beverages), Working women, Health, Health, Psychology and mental health
Abstract

Dependence on or harmful use of alcohol and tobacco or illicit drugs is generally higher in men. Epidemiological studies, however, indicate an alarming narrowing in this gender gap especially in [...]

Published
2018

8. Consensus paper of the WFSBP task force on biological markers : criteria for biomarkers and endophenotypes of schizophrenia part II : cognition, neuroimaging and genetics

Author

Schmitt, Andrea, Rujescu, Dan, Gawlik, Micha, Hasan, Alkomiet, Hashimoto, Kenji, Iceta, Sylvain, Jarema, Marek, Kambeitz, Joseph, Kasper, Siegfried, Keeser, Daniel, Kornhuber, Johannes, Koutsouleris, Nikolaos, Lanzenberger, Rupert, Malchow, Berend, Saoud, Mohamed, Spies, Marie, Stöber, Gerald, Thibaut, Florence, Riederer, Peter, Falkai, Peter, World Federation of the Societies of Biological Psychiatry, Schmitt, Andrea, Rujescu, Dan, Gawlik, Micha, Hasan, Alkomiet, Hashimoto, Kenji, Iceta, Sylvain, Jarema, Marek, Kambeitz, Joseph, Kasper, Siegfried, Keeser, Daniel, Kornhuber, Johannes, Koutsouleris, Nikolaos, Lanzenberger, Rupert, Malchow, Berend, Saoud, Mohamed, Spies, Marie, Stöber, Gerald, Thibaut, Florence, Riederer, Peter, Falkai, Peter, and World Federation of the Societies of Biological Psychiatry

Abstract

Objectives: Schizophrenia is a group of severe psychiatric disorders with high heritability but only low odds ratios of risk genes. Despite progress in the identification of pathophysiological processes, valid biomarkers of the disease are still lacking. Methods: This comprehensive review summarises recent efforts to identify genetic underpinnings, clinical and cognitive endophenotypes and symptom dimensions of schizophrenia and presents findings from neuroimaging studies with structural, functional and spectroscopy magnetic resonance imaging and positron emission tomography. The potential of findings to be biomarkers of schizophrenia is discussed. Results: Recent findings have not resulted in clear biomarkers for schizophrenia. However, we identified several biomarkers that are potential candidates for future research. Among them, copy number variations and links between genetic polymorphisms derived from genome-wide analysis studies, clinical or cognitive phenotypes, multimodal neuroimaging findings including positron emission tomography and magnetic resonance imaging, and the application of multivariate pattern analyses are promising. Conclusions: Future studies should address the effects of treatment and stage of the disease more precisely and apply combinations of biomarker candidates. Although biomarkers for schizophrenia await validation, knowledge on candidate genomic and neuroimaging biomarkers is growing rapidly and research on this topic has the potential to identify psychiatric endophenotypes and in the future increase insight on individual treatment response in schizophrenia.

Published
2022

9. Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Author

Medical Research Council (UK), National Natural Science Foundation of China, Royal Society (UK), Chinese Academy of Sciences, Shanghai Science and Technology Committee, Research Council of Norway, European Commission, Fundação de Amparo à Pesquisa do Estado de São Paulo, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Comunidad de Madrid, Fundación Alicia Koplowitz, Fundación Alonso Lozano, Mental Health Research UK, Wellcome Trust, Brain and Behavior Research Foundation, NIHR Biomedical Research Centre (UK), University College London, Generalitat Valenciana, Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B., Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A., Hall, Lynsey S., Lam, Max, Curtis, Charles, Nikitina-Zake, Liene, Davidson, Michael, Joa, Inge, Davis, Kenneth L., Yolken, Robert, Murray, Robin M., de Haan, Lieuwe, Legge, Sophie E., Serretti, Alessandro, van Os, Jim, Smoller, Jordan W., Agartz, Ingrid, Alizadeh, Behrooz Z., Degenhardt, Franziska, DeLisi, Lynn E., Demontis, Ditte, Dickerson, Faith, Zai, Clement C., Dikeos, Dimitris, Dinan, Timothy, Henskens, Frans A., Vaaler, Arne, Noto, Cristiano, Nimgaonkar, Vishwajit, Rautanen, Anna, Lehrer, Douglas S., Djurovic, Srdjan, Duan, Jubao, Julià, Antonio, Stahl, Eli A., Zhou, Wei, Vawter, Marquis P., Toncheva, Draga, Webb, Bradley T., Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanas Saura, Lourdes, Goldstein, Jacqueline I., Faraone, Stephen V., Lencer, Rebecca, Moreno, Carmen, Bacanu, Silviu A., Fiorentino, Alessia, Calkins, Monica E., Mitjans, Marina, Forstner, Andreas, Nuechterlein, Keith H., Frank, Josef, Tsuang, Debby W., Freimer, Nelson B., Tooney, Paul A., Belangero, Sintia Iole, Weinberger, Daniel R., Fromer, Menachem, Ge,Tian, Adolfsson, Rolf, Hakonarson, Hakon, Zhu, Feng, Frustaci, Alessandra, Nöthen, Markus M., Gadelha, Ary, Genovese, Giulio, Gershon, Elliot S., Quattrone, Diego, Kähler, Anna K., Kam-Thong, Tony, van Amelsvoort, Therese, Vilella, Elisabet, Molden, Espen, O'Brien, Niamh Louise, Zimprich, Fritz, Kamatani, Yoichiro, Braun, Alice, Melegh, Bela, Pirinen, Matti, Karachanak-Yankova, Sena, Ophoff, Roel A., Kebir, Oussama, Lerer, Bernard, Nordentoft, Merete, Fanous, Ayman H., Reichenberg, Abraham, Li, Miaoxin, Periyasamy, Sathish, Lieberman, Jeffrey, Werge, Thomas, Light, Gregory A., Limborska, Svetlana, Tosato, Sarah, Liu, Chih-Min, Olincy, Ann, Magnusson, Sigurdur, Gareeva, Anna, Bressan, Rodrigo Affonseca, Lönnqvist, Jouko, Roe, Cheryl, Cheng, Wei, Athanasiu, Lavinia, Gutiérrez, Blanca, Harvey, Carol, Loughland, Carmel M., Lubinski, Jan, Luykx, Jurjen J., Lynham, Amy, Gawlik, Micha, Macek, Milan, Mackinnon, Andrew, Buxbaum, Joseph D., Tura, Gian Battista, Bromet, Evelyn J., Atbaşoğlu, Eşref Cem, Roffman, Joshua L., Magnusson, Patrik K. E., Maher, Brion S., Ota, Vanessa Kiyomi, Paciga, Sara A., Gejman, Pablo V., Arango, Celso, Forti, Marta Di, Maier, Wolfgang, Richards, Alexander L., Malaspina, Dolores, Mallet, Jacques, Metspalu, Andres, Marder, Stephen R., Li, Zhiqiang, Takahashi, Atsushi, Marsal, Sara, Kučinskiene, Zita Ausrele, Suvisaari, Jaana, Martin, Alicia R., Turetsky, Bruce I., Martorell, Lourdes, Palotie, Aarno, Mattheisen, Manuel, Baune, Bernhard T., Saka, Meram C., McCarley, Robert W., Giusti-Rodríguez, Paola, Riley, Brien P., Murphy, Kieran C., Gill, Michael, McDonald, Colm, Bruggeman, Richard, McGrath, John J., Sidorenko, Julia, Medeiros, Helena, Pantelis, Christos, Grove, Jakob, Campion, Dominique, Pato, Carlos N., Svrakic, Dragan M., Üçok, Alp, Glatt, Stephen J., Papadimitriou, George N., Khrunin, Andrey, Straub, Richard E., Parellada, Mara, Buckley, Peter F., Paunio, Tiina, Roth, Julian, Morgan, Vera A., Wildenauer, Dieter B., Ayub, Muhammad, Rothermundt, Matthias, Weiser, Mark, Rutten, Bart P. F., Saker-Delye, Safaa, Salomaa, Veikko, Børglum, Anders D., Sanjuán, Julio, van Winkel, Ruud, González Peñas, Javier, Yu, Xin, Kim, Sung-Wan, Santoro, Marcos Leite, Benner, Christian, Ikeda, Masashi, Morley, Christopher P., Zeng, Jian, Savitz, Adam, Schall, Ulrich, Scott, Rodney J., Voloudakis, Georgios, Yue, Weihua, Seidman, Larry J., Sharp, Sally Isabel, Alptekin, Köksal, Klovins, Janis, Amin, Farooq, Bertolino, Alessandro, Shi, Jianxin, Siever, Larry J., Atkinson, Elizabeth G., Buckner, Randy L., Holmans, Peter A., Rivera, Margarita, Sigurdsson, Engilbert, González-Pinto, Ana, Sim, Kang, Skarabis, Nora, Stroup, T Scott, Slominsky, Petr, Guillin, Olivier, Wang, Shi-Heng, So, Hon-Cheong, Quested, Digby, Sobell, Janet L., Braff, David, Zhang, Wen, Bybjerg-Grauholm, Jonas, Söderman, Erik, Rujescu, Dan, Chambert, Kimberley D., Stain, Helen J., Melle, Ingrid, Carr, Vaughan J, Pocklington, Andrew J., Steen, Nils Eiel, Harwood, Janet, Steixner-Kumar, Agnes A., Gopal, Srihari, Stögmann, Elisabeth, Veijola, Juha, Watanabe, Kyoko, Sham, Pak C., Cahn, Wiepke, Bramon, Elvira, Roussos, Panos, Waddington, John, Perkins, Diana O., Pato, Michele T., Walter, Henrik, Kondratiev, Nikolay, Waterreus, Anna, Al Eissa, Mariam, Bobes, Julio, Golimbet, Vera, Black, Donald W., Als, Thomas D., Bray, Nicholas J., Breen, Gerome, Buccola, Nancy G., Sanders, Alan R., Byerley, William F., Cervilla, Jorge A., Michie, Patricia T., Pfuhlmann, Bruno, Chen, Wei J., Hong, Kyung Sue, O'Neill, F Anthony, Terao, Chikashi, Green, Michael F., Cloninger, C. Robert, Crespo-Facorro, Benedicto, Donohoe, Gary, Gülöksüz, Sinan, Freedman, Robert, Albus, Margot, Hayward, Caroline, Pietiläinen, Olli, Herms, Stefan, Hultman, Christina M., Galletly, Cherrie, Gandal, Michael J., Hahn, Eric, Konte, Bettina, Castle, David, Gennarelli, Massimo, Milani, Lili, Hougaard, David M., Hwu, Hai-Gwo, Pulver, Ann E., Jablensky, Assen V., Molina, Esther, Qin, Shengying, McCarroll, Steven A., Moran, Jennifer L., Azevedo, Maria Helena, Gur, Rachel E., Kraft, Julia, Mors, Ole, Catts, Stanley V., Lazzeroni, Laura C., Mortensen, Preben B., Streit, Fabian, Kusumawardhani, Agung, Alexander, Madeline, Godard, Stephanie, Müller-Myhsok, Bertram, Milanova, Vihra, Neil, Amanda L., Cichon, Sven, Giannitelli, Marianna, Cheung, Eric F. C., Kubo, Michiaki, Schwab, Sibylle G., Collier, David A., Williams, Nigel M., Morris, Derek W., Corvin, Aiden, Pimm, Jonathan, Curtis, David, Haroutunian, Vahram, Keller, Matthew C., Vassos, Evangelos, Hyman, Steven E., Iwata, Nakao, Jönsson, Erik G., Kahn, René S., Chan, Raymond C. K., Kennedy, James L., Shi, Yongyong, Adams, Mark, Witt, Stephanie H., Khusnutdinova, Elza, Verhage, Matthijs, Xu, Shuhua, Wu, Yang, Kirov, George, Arolt, Volker, Knowles, James A., Moltó, Maria Dolores, Krebs, Marie-Odile, Hartmann, Annette M., Nestadt, Gerald, Wormley, Brandon K., Bass, Nicholas J., Laurent-Levinson, Claudine, Lee, Jimmy, Muntané, Gerard, Porteous, David, Kuzelova-Ptackova, Hana, Lencz, Todd, Subramaniam, Mythily, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Swerdlow, Neal R., Cairns, Murray J., Malhotra, Anil K., Malhotra, Dheeraj, Iyegbe, Conrad, Mondelli, Valeria, Kim, Minsoo, Arrojo, Manuel, Landi, Stefano, McIntosh, Andrew M., Petryshen, Tracey L., Radant, Allen D., Frei, Oleksandr, Mesholam-Gately, Raquelle I., McQuillin, Andrew, Sugar, Catherine A., Menezes, Paulo Rossi, St Clair, David, Meier, Sandra, Powell, John, Chaumette, Boris, Stefansson, Hreinn, Domenici, Enrico, Bonassi, Stefano, Stefánsson, Kári, Wu, Jing Qin, Tsuang, Ming T., Myin-Germeys, Inez, Pellegrino, Renata, Visscher, Peter M., Yang, Jian, Posthuma, Danielle, Andreassen, Ole A., Koopmans, Frank, Kendler, Kenneth S., Chong, Siow Ann, Gur, Ruben C., Ehrenreich, Hannelore, Owen, Michael J., Rietschel, Marcella, Gratten, Jacob, Wray, Naomi R., Hoffmann, Per, Daly, Mark J., Szatkiewicz, Jin P., Huang, Hailiang, Nenadić, Igor, Torretta, Silvia, Escott-Price, Valentina, Neale, Benjamin M., Begemann, Martin, Thibaut, Florence, Agerbo, Esben, Rampino, Antonio, Sullivan, Patrick F., Schulze, Thomas G., Ripke, Stephan, Walters, James T. R., O'Donovan, Michael C., Kučinskas, Vaidutis, Belliveau, Richard A., Bene, Judit, Oh, Sang-Yun, Ta, Thi Minh Tam, Greenwood, Tiffany A., Howrigan, Daniel P., Rapaport, Mark H., Benyamin, Beben, Mowry, Bryan J., Giegling, Ina, Strengman, Eric, Bergen, Sarah E., Silverman, Jeremy M., Blasi, Giuseppe, Cohen, David, Stone, William S., Xu, Zhida, Lee, Phil H., Consoli, Angèle, Kelly, Brian J.., Cordeiro, Quirino, Esko, Tõnu, Costas, Javier, Medical Research Council (UK), National Natural Science Foundation of China, Royal Society (UK), Chinese Academy of Sciences, Shanghai Science and Technology Committee, Research Council of Norway, European Commission, Fundação de Amparo à Pesquisa do Estado de São Paulo, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Comunidad de Madrid, Fundación Alicia Koplowitz, Fundación Alonso Lozano, Mental Health Research UK, Wellcome Trust, Brain and Behavior Research Foundation, NIHR Biomedical Research Centre (UK), University College London, Generalitat Valenciana, Trubetskoy, Vassily, Pardiñas, Antonio F., Qi, Ting, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Bigdeli, Tim B., Bryois, Julien, Chen, Chia-Yen, Dennison, Charlotte A., Hall, Lynsey S., Lam, Max, Curtis, Charles, Nikitina-Zake, Liene, Davidson, Michael, Joa, Inge, Davis, Kenneth L., Yolken, Robert, Murray, Robin M., de Haan, Lieuwe, Legge, Sophie E., Serretti, Alessandro, van Os, Jim, Smoller, Jordan W., Agartz, Ingrid, Alizadeh, Behrooz Z., Degenhardt, Franziska, DeLisi, Lynn E., Demontis, Ditte, Dickerson, Faith, Zai, Clement C., Dikeos, Dimitris, Dinan, Timothy, Henskens, Frans A., Vaaler, Arne, Noto, Cristiano, Nimgaonkar, Vishwajit, Rautanen, Anna, Lehrer, Douglas S., Djurovic, Srdjan, Duan, Jubao, Julià, Antonio, Stahl, Eli A., Zhou, Wei, Vawter, Marquis P., Toncheva, Draga, Webb, Bradley T., Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanas Saura, Lourdes, Goldstein, Jacqueline I., Faraone, Stephen V., Lencer, Rebecca, Moreno, Carmen, Bacanu, Silviu A., Fiorentino, Alessia, Calkins, Monica E., Mitjans, Marina, Forstner, Andreas, Nuechterlein, Keith H., Frank, Josef, Tsuang, Debby W., Freimer, Nelson B., Tooney, Paul A., Belangero, Sintia Iole, Weinberger, Daniel R., Fromer, Menachem, Ge,Tian, Adolfsson, Rolf, Hakonarson, Hakon, Zhu, Feng, Frustaci, Alessandra, Nöthen, Markus M., Gadelha, Ary, Genovese, Giulio, Gershon, Elliot S., Quattrone, Diego, Kähler, Anna K., Kam-Thong, Tony, van Amelsvoort, Therese, Vilella, Elisabet, Molden, Espen, O'Brien, Niamh Louise, Zimprich, Fritz, Kamatani, Yoichiro, Braun, Alice, Melegh, Bela, Pirinen, Matti, Karachanak-Yankova, Sena, Ophoff, Roel A., Kebir, Oussama, Lerer, Bernard, Nordentoft, Merete, Fanous, Ayman H., Reichenberg, Abraham, Li, Miaoxin, Periyasamy, Sathish, Lieberman, Jeffrey, Werge, Thomas, Light, Gregory A., Limborska, Svetlana, Tosato, Sarah, Liu, Chih-Min, Olincy, Ann, Magnusson, Sigurdur, Gareeva, Anna, Bressan, Rodrigo Affonseca, Lönnqvist, Jouko, Roe, Cheryl, Cheng, Wei, Athanasiu, Lavinia, Gutiérrez, Blanca, Harvey, Carol, Loughland, Carmel M., Lubinski, Jan, Luykx, Jurjen J., Lynham, Amy, Gawlik, Micha, Macek, Milan, Mackinnon, Andrew, Buxbaum, Joseph D., Tura, Gian Battista, Bromet, Evelyn J., Atbaşoğlu, Eşref Cem, Roffman, Joshua L., Magnusson, Patrik K. E., Maher, Brion S., Ota, Vanessa Kiyomi, Paciga, Sara A., Gejman, Pablo V., Arango, Celso, Forti, Marta Di, Maier, Wolfgang, Richards, Alexander L., Malaspina, Dolores, Mallet, Jacques, Metspalu, Andres, Marder, Stephen R., Li, Zhiqiang, Takahashi, Atsushi, Marsal, Sara, Kučinskiene, Zita Ausrele, Suvisaari, Jaana, Martin, Alicia R., Turetsky, Bruce I., Martorell, Lourdes, Palotie, Aarno, Mattheisen, Manuel, Baune, Bernhard T., Saka, Meram C., McCarley, Robert W., Giusti-Rodríguez, Paola, Riley, Brien P., Murphy, Kieran C., Gill, Michael, McDonald, Colm, Bruggeman, Richard, McGrath, John J., Sidorenko, Julia, Medeiros, Helena, Pantelis, Christos, Grove, Jakob, Campion, Dominique, Pato, Carlos N., Svrakic, Dragan M., Üçok, Alp, Glatt, Stephen J., Papadimitriou, George N., Khrunin, Andrey, Straub, Richard E., Parellada, Mara, Buckley, Peter F., Paunio, Tiina, Roth, Julian, Morgan, Vera A., Wildenauer, Dieter B., Ayub, Muhammad, Rothermundt, Matthias, Weiser, Mark, Rutten, Bart P. F., Saker-Delye, Safaa, Salomaa, Veikko, Børglum, Anders D., Sanjuán, Julio, van Winkel, Ruud, González Peñas, Javier, Yu, Xin, Kim, Sung-Wan, Santoro, Marcos Leite, Benner, Christian, Ikeda, Masashi, Morley, Christopher P., Zeng, Jian, Savitz, Adam, Schall, Ulrich, Scott, Rodney J., Voloudakis, Georgios, Yue, Weihua, Seidman, Larry J., Sharp, Sally Isabel, Alptekin, Köksal, Klovins, Janis, Amin, Farooq, Bertolino, Alessandro, Shi, Jianxin, Siever, Larry J., Atkinson, Elizabeth G., Buckner, Randy L., Holmans, Peter A., Rivera, Margarita, Sigurdsson, Engilbert, González-Pinto, Ana, Sim, Kang, Skarabis, Nora, Stroup, T Scott, Slominsky, Petr, Guillin, Olivier, Wang, Shi-Heng, So, Hon-Cheong, Quested, Digby, Sobell, Janet L., Braff, David, Zhang, Wen, Bybjerg-Grauholm, Jonas, Söderman, Erik, Rujescu, Dan, Chambert, Kimberley D., Stain, Helen J., Melle, Ingrid, Carr, Vaughan J, Pocklington, Andrew J., Steen, Nils Eiel, Harwood, Janet, Steixner-Kumar, Agnes A., Gopal, Srihari, Stögmann, Elisabeth, Veijola, Juha, Watanabe, Kyoko, Sham, Pak C., Cahn, Wiepke, Bramon, Elvira, Roussos, Panos, Waddington, John, Perkins, Diana O., Pato, Michele T., Walter, Henrik, Kondratiev, Nikolay, Waterreus, Anna, Al Eissa, Mariam, Bobes, Julio, Golimbet, Vera, Black, Donald W., Als, Thomas D., Bray, Nicholas J., Breen, Gerome, Buccola, Nancy G., Sanders, Alan R., Byerley, William F., Cervilla, Jorge A., Michie, Patricia T., Pfuhlmann, Bruno, Chen, Wei J., Hong, Kyung Sue, O'Neill, F Anthony, Terao, Chikashi, Green, Michael F., Cloninger, C. Robert, Crespo-Facorro, Benedicto, Donohoe, Gary, Gülöksüz, Sinan, Freedman, Robert, Albus, Margot, Hayward, Caroline, Pietiläinen, Olli, Herms, Stefan, Hultman, Christina M., Galletly, Cherrie, Gandal, Michael J., Hahn, Eric, Konte, Bettina, Castle, David, Gennarelli, Massimo, Milani, Lili, Hougaard, David M., Hwu, Hai-Gwo, Pulver, Ann E., Jablensky, Assen V., Molina, Esther, Qin, Shengying, McCarroll, Steven A., Moran, Jennifer L., Azevedo, Maria Helena, Gur, Rachel E., Kraft, Julia, Mors, Ole, Catts, Stanley V., Lazzeroni, Laura C., Mortensen, Preben B., Streit, Fabian, Kusumawardhani, Agung, Alexander, Madeline, Godard, Stephanie, Müller-Myhsok, Bertram, Milanova, Vihra, Neil, Amanda L., Cichon, Sven, Giannitelli, Marianna, Cheung, Eric F. C., Kubo, Michiaki, Schwab, Sibylle G., Collier, David A., Williams, Nigel M., Morris, Derek W., Corvin, Aiden, Pimm, Jonathan, Curtis, David, Haroutunian, Vahram, Keller, Matthew C., Vassos, Evangelos, Hyman, Steven E., Iwata, Nakao, Jönsson, Erik G., Kahn, René S., Chan, Raymond C. K., Kennedy, James L., Shi, Yongyong, Adams, Mark, Witt, Stephanie H., Khusnutdinova, Elza, Verhage, Matthijs, Xu, Shuhua, Wu, Yang, Kirov, George, Arolt, Volker, Knowles, James A., Moltó, Maria Dolores, Krebs, Marie-Odile, Hartmann, Annette M., Nestadt, Gerald, Wormley, Brandon K., Bass, Nicholas J., Laurent-Levinson, Claudine, Lee, Jimmy, Muntané, Gerard, Porteous, David, Kuzelova-Ptackova, Hana, Lencz, Todd, Subramaniam, Mythily, Levinson, Douglas F., Li, Qingqin S., Liu, Jianjun, Swerdlow, Neal R., Cairns, Murray J., Malhotra, Anil K., Malhotra, Dheeraj, Iyegbe, Conrad, Mondelli, Valeria, Kim, Minsoo, Arrojo, Manuel, Landi, Stefano, McIntosh, Andrew M., Petryshen, Tracey L., Radant, Allen D., Frei, Oleksandr, Mesholam-Gately, Raquelle I., McQuillin, Andrew, Sugar, Catherine A., Menezes, Paulo Rossi, St Clair, David, Meier, Sandra, Powell, John, Chaumette, Boris, Stefansson, Hreinn, Domenici, Enrico, Bonassi, Stefano, Stefánsson, Kári, Wu, Jing Qin, Tsuang, Ming T., Myin-Germeys, Inez, Pellegrino, Renata, Visscher, Peter M., Yang, Jian, Posthuma, Danielle, Andreassen, Ole A., Koopmans, Frank, Kendler, Kenneth S., Chong, Siow Ann, Gur, Ruben C., Ehrenreich, Hannelore, Owen, Michael J., Rietschel, Marcella, Gratten, Jacob, Wray, Naomi R., Hoffmann, Per, Daly, Mark J., Szatkiewicz, Jin P., Huang, Hailiang, Nenadić, Igor, Torretta, Silvia, Escott-Price, Valentina, Neale, Benjamin M., Begemann, Martin, Thibaut, Florence, Agerbo, Esben, Rampino, Antonio, Sullivan, Patrick F., Schulze, Thomas G., Ripke, Stephan, Walters, James T. R., O'Donovan, Michael C., Kučinskas, Vaidutis, Belliveau, Richard A., Bene, Judit, Oh, Sang-Yun, Ta, Thi Minh Tam, Greenwood, Tiffany A., Howrigan, Daniel P., Rapaport, Mark H., Benyamin, Beben, Mowry, Bryan J., Giegling, Ina, Strengman, Eric, Bergen, Sarah E., Silverman, Jeremy M., Blasi, Giuseppe, Cohen, David, Stone, William S., Xu, Zhida, Lee, Phil H., Consoli, Angèle, Kelly, Brian J.., Cordeiro, Quirino, Esko, Tõnu, and Costas, Javier

Abstract

Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant associations at 287 distinct genomic loci. Associations were concentrated in genes that are expressed in excitatory and inhibitory neurons of the central nervous system, but not in other tissues or cell types. Using fine-mapping and functional genomic data, we identify 120 genes (106 protein-coding) that are likely to underpin associations at some of these loci, including 16 genes with credible causal non-synonymous or untranslated region variation. We also implicate fundamental processes related to neuronal function, including synaptic organization, differentiation and transmission. Fine-mapped candidates were enriched for genes associated with rare disruptive coding variants in people with schizophrenia, including the glutamate receptor subunit GRIN2A and transcription factor SP4, and were also enriched for genes implicated by such variants in neurodevelopmental disorders. We identify biological processes relevant to schizophrenia pathophysiology; show convergence of common and rare variant associations in schizophrenia and neurodevelopmental disorders; and provide a resource of prioritized genes and variants to advance mechanistic studies.

Published
2022

10. Forensic mental health in Europe: some key figures

Author

Tomlin, Jack, Lega, Ilaria, Braun, Peter, Kennedy, Harry G., Herrando, Vicente Tort, Barroso, Ricardo, Castelletti, Luca, Mirabella, Fiorino, Scarpa, Franco, Völlm, Birgit, Pham, Thierry, Müller-Isberner, Rüdiger, Taube, Maris, Rivellini, Gianfranco, Calevro, Valeria, Liardo, Raffaello, Pennino, Michele, Markiewicz, Inga, Barbosa, Fernando, Bulten, Erik, Thomson, Lindsay, Pustoslemšek, Miran, Arroyo, Jose Manuel, Seppänen, Allan, Thibaut, Florence, Kozaric-Kovacic, Dragica, Palijan, Tija Zarkovic, Markovska-Simoska, Silvana, Raleva, Marija, Šileikaitė, Aldona, Germanavičius, Arūnas, Čėsnienė, Ilona, and Faculdade de Psicologia e de Ciências da Educação

Subjects
medicine.medical_specialty, Health (social science), Social Psychology, Epidemiology, BF, Forensic mental health, Beds, Gross domestic product, 03 medical and health sciences, 0302 clinical medicine, Forensic psychiatry, Health care, medicine, Prevalence, media_common.cataloged_instance, Humans, 030212 general & internal medicine, European union, media_common, Netherlands, Deinstitutionalization, Europe, Original Paper, Wales, business.industry, Mental Disorders, Mental health, 030227 psychiatry, Forensic science, Psychiatry and Mental health, Geography, Mental Health, England, Spain, RA1001, RC0321, Democracy Index, Female, business, Demography
Abstract

Purpose While the number of forensic beds and the duration of psychiatric forensic psychiatric treatment have increased in several European Union (EU) states, this is not observed in others. Patient demographics, average lengths of stay and legal frameworks also differ substantially. The lack of basic epidemiological information on forensic patients and of shared indicators on forensic care within Europe is an obstacle to comparative research. The reasons for such variation are not well understood. Methods Experts from seventeen EU states submitted data on forensic bed prevalence rates, gender distributions and average length of stay in forensic in-patient facilities. Average length of stay and bed prevalence rates were examined for associations with country-level variables including Gross Domestic Product (GDP), expenditure on healthcare, prison population, general psychiatric bed prevalence rates and democracy index scores. Results The data demonstrated substantial differences between states. Average length of stay was approximately ten times greater in the Netherlands than Slovenia. In England and Wales, 18% of patients were female compared to 5% in Slovenia. There was a 17-fold difference in forensic bed rates per 100,000 between the Netherlands and Spain. Exploratory analyses suggested average length of stay was associated with GDP, expenditure on healthcare and democracy index scores. Conclusion The data presented in this study represent the most recent overview of key epidemiological data in forensic services across seventeen EU states. However, systematically collected epidemiological data of good quality remain elusive in forensic psychiatry. States need to develop common definitions and recording practices and contribute to a publicly available database of such epidemiological indicators.

Published
2021

19. La cognition réparée ?

Author

Abry, Christian, Baciu, Monica, Bacon, Elisabeth, Barrouillet, Pierre, Boucart, Muriel, Camos, Valérie, Carnicella, Sebastien, Chapouthier, Georges, Deruelle, Christine, Fabre-Thorpe, Michèle, Gombert, Jean-Émile, Habib, Michel, Hausberger, Martine, Jouvent, Roland, Lebeau, Jacques, Metz-Lutz, Marie-Noëlle, Oberling, Philippe, Perrier, Pascal, Savariaux, Christophe, Segebarth, Christoph, Serniclaes, Willy, Sprenger-Charolles, Liliane, Thibaut, Florence, Vilain, Coriandre, Jouvent, Roland, and Chapouthier, Georges

Subjects
SCI090000, neuroscience cognitive, Psychology, GTR, trouble de la cognition, thérapie
Abstract

Si, à l'origine, les maladies du corps et de l'esprit possédaient chacune leur autonomie, si elles connurent ensuite au xixe siècle un rapprochement conduisant à la neuropsychiatrie, la déflagration de mai 1968 contribua à les isoler de nouveau. L'émergence des sciences cognitives, et d'un esprit radicalement interdisciplinaire, a fait éclater ces replis dogmatique. C'est bien là l'esprit des neurosciences cognitives, où l'émotion et la cognition constituent deux phénomènes tellement rapprochés et intriqués que leur séparation, si elle peut garder un intérêt au niveau de l'enseignement et de la pratique, n'a plus de sens au niveau de l'identification des mécanismes physiopathologiques. Leurs moyens d'investigation sont les mêmes, qu'il s'agisse de l'imagerie cérébrale, de la génétique cognitive, de la modélisation, voire de la cognition sociale. On verra dans cet ouvrage une illustration répétée de l'intrication de ces deux disciplines lorsqu'il s'agit de s'intéresser aux dysfonctionnements qu'elles étudient l'une et l'autre. C'est bien ici le mérite du programme Cognitique d'avoir su fédérer des communautés à l'origine isolées pour créer une nouvelle mouvance de recherche. La cognition réparée ?

Published
2019

20. WFSBP* and IAWMH** Guidelines for the treatment of alcohol use disorders in pregnant women

Author

Thibaut, Florence, Chagraoui, Abdeslam, Buckley, Leslie, Gressier, Florence, Labad, Javier, Lamy, Sandrine, Potenza, Marc N., Rondon, Marta, Rossler, Anita, Soyka, Michael, and Yonkers, Kim

Abstract

Objectives: These practice guidelines for the treatment of alcohol use disorders during pregnancy were developed by members of the International Task Force of the World Federation of Societies of Biological Psychiatry and the International Association for Women’s Mental Health. Methods: We performed a systematic review of all available publications and extracted data from national and international guidelines. The Task Force evaluated the data with respect to the strength of evidence for the efficacy and safety of each medication. Results and Discussion: There is no safe level of alcohol use during pregnancy. Abstinence is recommended. Ideally, women should stop alcohol use when pregnancy is planned and, in any case, as soon as pregnancy is known. Detecting patterns of alcohol maternal drinking should be systematically conducted at first antenatal visit and throughout pregnancy. Brief interventions are recommended in the case of low or moderate risk of alcohol use. Low doses of benzodiazepines, for the shortest duration, may be used to prevent alcohol withdrawal symptoms when high and chronic alcohol intake is stopped and hospitalisation is recommended. Due to the low level of evidence and/or to low benefit/risk ratio, pharmacological treatment for maintenance of abstinence should not be used during pregnancy. At birth, foetal alcohol spectrum disorders must be searched for, and alcohol metabolites should be measured in meconium of neonates in any doubt of foetal alcohol exposure.

Published
2019
Full Text
View/download PDF

22. Is dementia a preventable disease ?

Author

Davidson, Michael and Thibaut, Florence

Subjects
Editorial, Treatment Outcome, Alzheimer Disease, Humans, Dementia
Abstract

There currently exists evidence of moderate quality that cognitive training, blood pressure management, and physical activity can delay onset or slow progression of AD.1 All other preventive interventions have cither produced negative and controversial results or are still under investigation. This issue will present reviews on both established preventive interventions and those under investigation.

Published
2019

26. Cerebrospinal fluid and blood biomarkers for neurodegenerative dementias: An update of the Consensus of the Task Force on Biological Markers in Psychiatry of the World Federation of Societies of Biological Psychiatry

Author

Lewczuk, Piotr, Riederer, Peter, O'Bryant, Sid E., Verbeek, Marcel M., Dubois, Bruno, Visser, Pieter Jelle, Jellinger, Kurt A., Engelborghs, Sebastiaan, Ramirez, Alfredo, Parnetti, Lucilla, Jack, Clifford R., Jr., Teunissen, Charlotte E., Hampel, Harald, Lleo, Alberto, Jessen, Frank, Glodzik, Lidia, de Leon, Mony J., Fagan, Anne M., Luis Molinuevo, Jose, Jansen, Willemijn J., Winblad, Bengt, Shaw, Leslie M., Andreasson, Ulf, Otto, Markus, Mollenhauer, Brit, Wiltfang, Jens, Turner, Martin R., Zerr, Inga, Handels, Ron, Thompson, Alexander G., Johansson, Gunilla, Ermann, Natalia, Trojanowski, John Q., Karaca, Ilker, Wagner, Holger, Oeckl, Patrick, van Doorn, Linda van Waalwijk, Bjerke, Maria, Kapogiannis, Dimitrios, Kuiperij, H. Bea, Farotti, Lucia, Li, Yi, Gordon, Brian A., Epelbaum, Stephane, Vos, Stephanie J. B., Klijn, Catharina J. M., Van Nostrand, William E., Minguillon, Carolina, Schmitz, Matthias, Gallo, Carla, Mato, Andrea Lopez, Thibaut, Florence, Lista, Simone, Alcolea, Daniel, Zetterberg, Henrik, Blennow, Kaj, Kornhuber, Johannes, Lewczuk, Piotr, Riederer, Peter, O'Bryant, Sid E., Verbeek, Marcel M., Dubois, Bruno, Visser, Pieter Jelle, Jellinger, Kurt A., Engelborghs, Sebastiaan, Ramirez, Alfredo, Parnetti, Lucilla, Jack, Clifford R., Jr., Teunissen, Charlotte E., Hampel, Harald, Lleo, Alberto, Jessen, Frank, Glodzik, Lidia, de Leon, Mony J., Fagan, Anne M., Luis Molinuevo, Jose, Jansen, Willemijn J., Winblad, Bengt, Shaw, Leslie M., Andreasson, Ulf, Otto, Markus, Mollenhauer, Brit, Wiltfang, Jens, Turner, Martin R., Zerr, Inga, Handels, Ron, Thompson, Alexander G., Johansson, Gunilla, Ermann, Natalia, Trojanowski, John Q., Karaca, Ilker, Wagner, Holger, Oeckl, Patrick, van Doorn, Linda van Waalwijk, Bjerke, Maria, Kapogiannis, Dimitrios, Kuiperij, H. Bea, Farotti, Lucia, Li, Yi, Gordon, Brian A., Epelbaum, Stephane, Vos, Stephanie J. B., Klijn, Catharina J. M., Van Nostrand, William E., Minguillon, Carolina, Schmitz, Matthias, Gallo, Carla, Mato, Andrea Lopez, Thibaut, Florence, Lista, Simone, Alcolea, Daniel, Zetterberg, Henrik, Blennow, Kaj, and Kornhuber, Johannes

Abstract

In the 12 years since the publication of the first Consensus Paper of the WFSBP on biomarkers of neurodegenerative dementias, enormous advancement has taken place in the field, and the Task Force takes now the opportunity to extend and update the original paper. New concepts of Alzheimer's disease (AD) and the conceptual interactions between AD and dementia due to AD were developed, resulting in two sets for diagnostic/research criteria. Procedures for pre-analytical sample handling, biobanking, analyses and post-analytical interpretation of the results were intensively studied and optimised. A global quality control project was introduced to evaluate and monitor the inter-centre variability in measurements with the goal of harmonisation of results. Contexts of use and how to approach candidate biomarkers in biological specimens other than cerebrospinal fluid (CSF), e.g. blood, were precisely defined. Important development was achieved in neuroimaging techniques, including studies comparing amyloid- positron emission tomography results to fluid-based modalities. Similarly, development in research laboratory technologies, such as ultra-sensitive methods, raises our hopes to further improve analytical and diagnostic accuracy of classic and novel candidate biomarkers. Synergistically, advancement in clinical trials of anti-dementia therapies energises and motivates the efforts to find and optimise the most reliable early diagnostic modalities. Finally, the first studies were published addressing the potential of cost-effectiveness of the biomarkers-based diagnosis of neurodegenerative disorders.

Published
2018

27. Biological markers for anxiety disorders, OCD and PTSD: A consensus statement. Part II: Neurochemistry, neurophysiology and neurocognition

Author

Bandelow, Borwin Baldwin, David Abelli, Marianna and Bolea-Alamanac, Blanca Bourin, Michel Chamberlain, Samuel R. and Cinosi, Eduardo Davies, Simon Domschke, Katharina Fineberg, Naomi Gruenblatt, Edna Jarema, Marek Kim, Yong-Ku Maron, Eduard Masdrakis, Vasileios Mikova, Olya Nutt, David and Pallanti, Stefano Pini, Stefano Stroehle, Andreas Thibaut, Florence Vaghi, Matilde M. Won, Eunsoo Wedekind, Dirk and Wichniak, Adam Woolley, Jade Zwanzger, Peter Riederer, Peter

Abstract

Objective: Biomarkers are defined as anatomical, biochemical or physiological traits that are specific to certain disorders or syndromes. The objective of this paper is to summarise the current knowledge of biomarkers for anxiety disorders, obsessive-compulsive disorder (OCD) and posttraumatic stress disorder (PTSD).Methods: Findings in biomarker research were reviewed by a task force of international experts in the field, consisting of members of the World Federation of Societies for Biological Psychiatry Task Force on Biological Markers and of the European College of Neuropsychopharmacology Anxiety Disorders Research Network.Results: The present article (Part II) summarises findings on potential biomarkers in neurochemistry (neurotransmitters such as serotonin, norepinephrine, dopamine or GABA, neuropeptides such as cholecystokinin, neurokinins, atrial natriuretic peptide, or oxytocin, the HPA axis, neurotrophic factors such as NGF and BDNF, immunology and CO2 hypersensitivity), neurophysiology (EEG, heart rate variability) and neurocognition. The accompanying paper (Part I) focuses on neuroimaging and genetics.Conclusions: Although at present, none of the putative biomarkers is sufficient and specific as a diagnostic tool, an abundance of high quality research has accumulated that should improve our understanding of the neurobiological causes of anxiety disorders, OCD and PTSD.

Published
2017

31. Consensus paper of the WFSBP Task Force on Genetics: Genetics, epigenetics and gene expression markers of major depressive disorder and antidepressant response.

Author

Fabbri, Chiara, Hosak, Ladislav, Mössner, Rainald, Giegling, Ina, Mandelli, Laura, Bellivier, Frank, Claes, Stephan, Collier, David Andrew, Corrales, Alejo, Delisi, Lynn LE, Gallo, Carla, Gill, Michael, Kennedy, James JL, Leboyer, Marion, Lisoway, Amanda, Maier, Wolfgang, Marquez, Manuel, Massat, Isabelle, Mors, Ole, Muglia, Pierandrea, Nöthen, Markus M, O'Donovan, Michael C, Ospina-Duque, Jorge, Propping, Peter, Shi, Yongyong, St Clair, David, Thibaut, Florence, Cichon, Sven, Mendlewicz, Julien, Rujescu, Dan, Serretti, Alessandro, Fabbri, Chiara, Hosak, Ladislav, Mössner, Rainald, Giegling, Ina, Mandelli, Laura, Bellivier, Frank, Claes, Stephan, Collier, David Andrew, Corrales, Alejo, Delisi, Lynn LE, Gallo, Carla, Gill, Michael, Kennedy, James JL, Leboyer, Marion, Lisoway, Amanda, Maier, Wolfgang, Marquez, Manuel, Massat, Isabelle, Mors, Ole, Muglia, Pierandrea, Nöthen, Markus M, O'Donovan, Michael C, Ospina-Duque, Jorge, Propping, Peter, Shi, Yongyong, St Clair, David, Thibaut, Florence, Cichon, Sven, Mendlewicz, Julien, Rujescu, Dan, and Serretti, Alessandro

Abstract

Major depressive disorder (MDD) is a heritable disease with a heavy personal and socio-economic burden. Antidepressants of different classes are prescribed to treat MDD, but reliable and reproducible markers of efficacy are not available for clinical use. Further complicating treatment, the diagnosis of MDD is not guided by objective criteria, resulting in the risk of under- or overtreatment. A number of markers of MDD and antidepressant response have been investigated at the genetic, epigenetic, gene expression and protein levels. Polymorphisms in genes involved in antidepressant metabolism (cytochrome P450 isoenzymes), antidepressant transport (ABCB1), glucocorticoid signalling (FKBP5) and serotonin neurotransmission (SLC6A4 and HTR2A) were among those included in the first pharmacogenetic assays that have been tested for clinical applicability. The results of these investigations were encouraging when examining patient-outcome improvement. Furthermore, a nine-serum biomarker panel (including BDNF, cortisol and soluble TNF-α receptor type II) showed good sensitivity and specificity in differentiating between MDD and healthy controls. These first diagnostic and response-predictive tests for MDD provided a source of optimism for future clinical applications. However, such findings should be considered very carefully because their benefit/cost ratio and clinical indications were not clearly demonstrated. Future tests may include combinations of different types of biomarkers and be specific for MDD subtypes or pathological dimensions., SCOPUS: re.j, info:eu-repo/semantics/published

Published
2017

32. World Federation of Societies of Biological Psychiatry (WFSBP) guidelines for biological treatment of schizophrenia:a short version for primary care

Author

Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthøj, Birte, Gattaz, Wagner F., Thibaut, Florence, Möller, Hans Jürgen, Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthøj, Birte, Gattaz, Wagner F., Thibaut, Florence, and Möller, Hans Jürgen

Abstract

Objective: Schizophrenia is a severe mental disorder and many patients are treated in primary care settings. Apart from the pharmacological management of disease-associated symptoms, the detection and treatment of side effects is of the utmost importance in clinical practice. The purpose of this publication is to offer relevant evidence-based recommendations for the biological treatment of schizophrenia in primary care. Methods: This publication is a short and practice-oriented summary of Parts I–III of the World Federation of Societies of Biological Psychiatry (WFSBP) Guidelines for Biological Treatment of Schizophrenia. The recommendations were developed by the authors and consented by a task force of international experts. Guideline recommendations are based on randomized-controlled trials and supplemented with non-randomized trials and meta-analyses where necessary. Results: Antipsychotics of different chemical classes are the first-line pharmacological treatments for schizophrenia. Specific circumstances (e.g., suicidality, depression, substance dependence) may need additional treatment options. The pharmacological and non-pharmacological management of side effects is of crucial importance for the long-term treatment in all settings of the healthcare system. Conclusions: This summary of the three available evidence-based guidelines has the potential to support clinical decisions and can improve treatment of schizophrenia in primary care settings.

Published
2017

33. Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics

Author

Giegling, Ina, Gallo, Carla, Gill, Michael, Kennedy, James JL, Leboyer, Marion, Maier, Wolfgang, Marquez, Miguel, Massat, Isabelle, Mors, Ole, Muglia, Pierandrea, Nöthen, Markus M, Hosak, Ladislav, Ospina-Duque, Jorge, Owen, Mike M.J., Propping, Peter, Shi, Yong Yong, St Clair, David, Thibaut, Florence, Cichon, Sven, Mendlewicz, Julien, O'Donovan, Michael M.C., Rujescu, Dan, Mössner, Rainald, Serretti, Alessandro, Bellivier, Frank, Claes, Stephan, Collier, David Andrew, Corrales, Alejo, DeLisi, Lynn Eleanor, Giegling, Ina, Gallo, Carla, Gill, Michael, Kennedy, James JL, Leboyer, Marion, Maier, Wolfgang, Marquez, Miguel, Massat, Isabelle, Mors, Ole, Muglia, Pierandrea, Nöthen, Markus M, Hosak, Ladislav, Ospina-Duque, Jorge, Owen, Mike M.J., Propping, Peter, Shi, Yong Yong, St Clair, David, Thibaut, Florence, Cichon, Sven, Mendlewicz, Julien, O'Donovan, Michael M.C., Rujescu, Dan, Mössner, Rainald, Serretti, Alessandro, Bellivier, Frank, Claes, Stephan, Collier, David Andrew, Corrales, Alejo, and DeLisi, Lynn Eleanor

Abstract

Objectives: Schizophrenia is a severe psychiatric disease affecting about 1% of the general population. The relative contribution of genetic factors has been estimated to be up to 80%. The mode of inheritance is complex, non-Mendelian, and in most cases involving the combined action of large numbers of genes. Methods: This review summarises recent efforts to identify genetic variants associated with schizophrenia detected, e.g. through genome-wide association studies, studies on copy-number variants or next-generation sequencing. Results: A large, new body of evidence on genetics of schizophrenia has accumulated over recent years. Many new robustly associated genetic loci have been detected. Furthermore, there is consensus that at least a dozen microdeletions and microduplications contribute to the disease. Genetic overlap between schizophrenia, other psychiatric disorders, and neurodevelopmental syndromes raised new questions regarding the current classification of psychiatric and neurodevelopmental diseases. Conclusions: Future studies will address especially the functional characterisation of genetic variants. This will hopefully open the doors to our understanding of the pathophysiology of schizophrenia and other related diseases. Complementary, integrated systems biology approaches to genomics, transcriptomics, proteomics and metabolomics may also play crucial roles in enabling a precision medicine approach to the treatment of individual patients., SCOPUS: re.j, info:eu-repo/semantics/published

Published
2017

38. Cannabinoids: for better and for worse

Author

Thibaut, Florence and Hoehe, Margret R.

Abstract

The use of cannabis as a drug has undergone a remarkable change of direction:considered as a symbol of countercultures in past decades, it is presently being hailedas a cure for any number of diseases and conditions. Thus, despite concerns about thesafety of cannabis and cannabinoids, quite a few drugs that contain cannabinoids haverecently been approved by several drug agencies, and the medicinal and recreational useof cannabis has been legalized in various countries and states. The promise ofcannabinoids for therapeutic use, as well as potentially detrimental health risks andregulatory issues, will need to be carefully weighed.

Published
2020
Full Text
View/download PDF

39. From basic research to personalized medicine

Author

Thibaut, Florence

Subjects
Editorial, precision medicine, Research, biomarker, Humans, genetics, Genomics, Biomarkers
Abstract

In the future, precision medicine will enable every clinician to tailor treatment and even prevention strategies to an individual's unique characteristics. In order to reach this goal, we need to collect and analyze many different types of data, from many different sources, including symptoms, genomics, and brain circuitry, as well as family dynamics, environmental exposures, and cultural background.

Published
2016

41. World Federation of Societies of Biological Psychiatry (WFSBP) Guidelines for Biological Treatment of Schizophrenia. Part 3:Update 2015 Management of special circumstances: Depression, Suicidality, substance use disorders and pregnancy and lactation

Author

Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthøj, Birte, Gattaz, Wagner F, Thibaut, Florence, Möller, Hans-Jürgen, Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthøj, Birte, Gattaz, Wagner F, Thibaut, Florence, and Möller, Hans-Jürgen

Abstract

These updated guidelines are based on the first edition of the World Federation of Societies of Biological Psychiatry (WFSBP) guidelines for biological treatment of schizophrenia published in the years 2005 and 2006. For this 2015 revision, all available publications pertaining to the biological treatment of schizophrenia were reviewed systematically to allow for an evidence-based update. These guidelines provide evidence-based practice recommendations which are clinically and scientifically relevant. They are intended to be used by all physicians diagnosing and treating patients with schizophrenia. Based on the first version of these guidelines a systematic review, as well as a data extraction from national guidelines have been performed for this update. The identified literature was evaluated with respect to the strength of evidence for its efficacy and subsequently categorised into six levels of evidence (A-F) and five levels of recommendation (1-5). This third part of the updated guidelines covers the management of the following specific treatment circumstances: comorbid depression, suicidality, various comorbid substance use disorders (legal and illegal drugs), and pregnancy and lactation. These guidelines are primarily concerned with the biological treatment (including antipsychotic medication and other pharmacological treatment options) of patients with schizophrenia.

Published
2015

43. Contributeurs

Author

Adès Jean, Allilaire Jean-François, Amado Isabelle, André Christophe, Andronikof Anne, Angel Pierre, Angel Sylvie, Ansseau Marc, Bellivier Frank, Benoit Michel, Benyaya Joseph, Birmes Philippe, Boucherat-Hue Valérie, Boulenger Jean-Philippe, Bourgeois Marc-Louis, Bourguignon Aurélie, Bourin Michel, Bouvard Martine, Braconnier Alain, Brun-Eberentz Annick, Buhl Catherine, Caillard Vincent, Capdevielle Delphine, Caria Aude, Caroli François, Chagnard Éric, Charpeaud Thomas, Clément Jean-Pierre, Cohen David, Consoli Angèle, Consoli Silla, Corcos Maurice, Cordier Bernard, Paul T Costa, Coste Emmanuelle, Cottraux Jean, Courtet Philippe, Cungi Charly, Daléry Jean, Danion Jean-Marie, Darcourt Guy, Dardennes Roland, David Jean-Christophe, De Beaurepaire Christiane, De Clercq Barbara, De Fruyt Filip, Debray Quentin, Demily Caroline, Derouesné Christian, Dubertret Caroline, Dubois Anne-Marie, Duclos Jeanne, Ducrocq François, Dumas Patrick, Duprez Matthieu, Dupuy Michèle, Edel Yves, Even Christian, Falissard Bruno, Ferreri Florian, Ferreri Maurice, Foulon Christine, Franck Nicolas, Galinowski André, Gay Christian, Gérard Alain, Giraud-Baro Élisabeth, Godart Nathalie, Gorwood Philip, Goudemand Michel, Gourion David, Gueguen Bernard, Guelfi Julien-Daniel, Hanin Bertrand, Hardy Patrick, Hardy-Baylé Marie-Christine, Hermes Aziz, Ichard Karine, Jeammet Philippe, Jehel Louis, Jonas Carol, Jousselme Catherine, Kahn Jean-Pierre, Kapsambelis Vassilis, Klein Rémy, Kovess-Masfety Viviane, Krebs Marie-Odile, Lachaux Bernard, Lamas Claire, Le Bastard Guillaume, Le Moal Michel, Leguay Denis, Lejoyeux Michel, Lienard Yasmine, Limosin Frédéric, Llorca Pierre-Michel, Loas Gwénolé, Logak Zoé, Lovell Anne, Mana Stéphanie, Marcelli Daniel, Marinescu Matei, Martinot Jean-Luc, Mattar Lama, McCrae Robert, Mercuel Alain, Millet Bruno, Mirabel-Sarron Christine, Monier Claudine, Montaut Thierry, Moro Marie-Rose, Note Ivan-Druon, Olié Jean-Pierre, Paillère Marie-Laure, Pascal Jean-Charles, Pelissolo Antoine, Perdereau Fabienne, Peretti Charles-Siegfried, Petitjean François, Pham-Scottez Alexandra, Philippe Alain, Pitchot William, Poirier Marie-France, Postel Jacques, Purper-Ouakil Diane, Quellien Floran, Ramoz Nicolas, Reynaud Michel, Ritchie Karen, Robert Philippe-Henri, Rolland Jean-Pierre, Rouillon Frédéric, Roux Hélène, Ruat Annie, Schmitt Laurent, Sechter Daniel, Senon Jean-Louis, Servant Dominique, Terra Jean-Louis, Thibaut Florence, Thomas Pierre, Thurin Jean-Michel, Vaiva Guillaume, Verdoux Hélène, Vidon Gilles, Villebrun Dominique, Waintraub Lionel, Widlöcher Daniel, Wirth Nathalie, Wohl Mathias, and Xavier Jean

Published
2012

45. World Federation of Societies of Biological Psychiatry (WFSBP) guidelines for biological treatment of schizophrenia, part 2 : update 2012 on the long-term treatment of schizophrenia and management of antipsychotic-induced side effects

Author

Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthoj, Birte, Gattaz, Wagner F, Thibaut, Florence, Möller, Hans-Jürgen, Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthoj, Birte, Gattaz, Wagner F, Thibaut, Florence, and Möller, Hans-Jürgen

Abstract

These updated guidelines are based on a first edition of the World Federation of Societies of Biological Psychiatry (WFSBP) guidelines for biological treatment of schizophrenia published in 2006. For this 2012 revision, all available publications pertaining to the biological treatment of schizophrenia were reviewed systematically to allow for an evidence-based update. These guidelines provide evidence-based practice recommendations that are clinically and scientifically meaningful. They are intended to be used by all physicians diagnosing and treating people suffering from schizophrenia. Based on the first version of these guidelines, a systematic review of the MEDLINE/PUBMED database and the Cochrane Library, in addition to data extraction from national treatment guidelines, has been performed for this update. The identified literature was evaluated with respect to the strength of evidence for its efficacy and then categorised into six levels of evidence (A-F) and five levels of recommendation (1-5) ( Bandelow et al. 2008a ,b, World J Biol Psychiatry 9:242, see Table 1 ). This second part of the updated guidelines covers long-term treatment as well as the management of relevant side effects. These guidelines are primarily concerned with the biological treatment (including antipsychotic medication and other pharmacological treatment options) of adults suffering from schizophrenia.

Published
2013
Full Text
View/download PDF

46. World Federation of Societies of Biological Psychiatry (WFSBP) Guidelines for Biological Treatment of Schizophrenia, Part 2:Update 2012 on the long-term treatment of schizophrenia and management of antipsychotic-induced side effects

Author

Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthoj, Birte, Gattaz, Wagner F, Thibaut, Florence, Möller, Hans-Jürgen, Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthoj, Birte, Gattaz, Wagner F, Thibaut, Florence, and Möller, Hans-Jürgen

Abstract

These updated guidelines are based on a first edition of the World Federation of Societies of Biological Psychiatry (WFSBP) guidelines for biological treatment of schizophrenia published in 2006. For this 2012 revision, all available publications pertaining to the biological treatment of schizophrenia were reviewed systematically to allow for an evidence-based update. These guidelines provide evidence-based practice recommendations that are clinically and scientifically meaningful. They are intended to be used by all physicians diagnosing and treating people suffering from schizophrenia. Based on the first version of these guidelines, a systematic review of the MEDLINE/PUBMED database and the Cochrane Library, in addition to data extraction from national treatment guidelines, has been performed for this update. The identified literature was evaluated with respect to the strength of evidence for its efficacy and then categorised into six levels of evidence (A-F) and five levels of recommendation (1-5) ( Bandelow et al. 2008a ,b, World J Biol Psychiatry 9:242, see Table 1 ). This second part of the updated guidelines covers long-term treatment as well as the management of relevant side effects. These guidelines are primarily concerned with the biological treatment (including antipsychotic medication and other pharmacological treatment options) of adults suffering from schizophrenia.

Published
2013

47. World Federation of Societies of Biological Psychiatry (WFSBP) Guidelines for Biological Treatment of Schizophrenia, part 1:update 2012 on the acute treatment of schizophrenia and the management of treatment resistance

Author

Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthoj, Birte, Gattaz, Wagner F, Thibaut, Florence, Möller, Hans-Jürgen, Hasan, Alkomiet, Falkai, Peter, Wobrock, Thomas, Lieberman, Jeffrey, Glenthoj, Birte, Gattaz, Wagner F, Thibaut, Florence, and Möller, Hans-Jürgen

Abstract

These updated guidelines are based on a first edition of the World Federation of Societies of Biological Psychiatry Guidelines for Biological Treatment of Schizophrenia published in 2005. For this 2012 revision, all available publications pertaining to the biological treatment of schizophrenia were reviewed systematically to allow for an evidence-based update. These guidelines provide evidence-based practice recommendations that are clinically and scientifically meaningful and these guidelines are intended to be used by all physicians diagnosing and treating people suffering from schizophrenia. Based on the first version of these guidelines, a systematic review of the MEDLINE/PUBMED database and the Cochrane Library, in addition to data extraction from national treatment guidelines, has been performed for this update. The identified literature was evaluated with respect to the strength of evidence for its efficacy and then categorised into six levels of evidence (A-F; Bandelow et al. 2008b, World J Biol Psychiatry 9:242). This first part of the updated guidelines covers the general descriptions of antipsychotics and their side effects, the biological treatment of acute schizophrenia and the management of treatment-resistant schizophrenia.

Published
2012

50. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Author

Raux, Grégory, Bumsel, Emilie, Hecketsweiler, Bernadette, van Amelsvoort, Therese, Zinkstok, Janneke, Manouvrier-Hanu, Sylvie, Fantini-Hauwel, Carole, Brévière, Georges-Marie M, Di Rosa, Gabriella, Pustorino, Giuseppina, Vogels, Annick, Swillen, Ann, Legallic, Solenn, Bou, Jacqueline, Opolczynski, Gaelle, Drouin-Garraud, Valérie, Lemarchand, Marie, Philip, Nicole, Gérard-Desplanches, Aude, Carlier, Michèle, Philippe, Anne, Nolen, Marie Christine, Heron, Delphine, Sarda, Pierre, Lacombe, Didier, Coizet, Cyril, Alembik, Yves, Layet, Valérie, Afenjar, Alexandra, Hannequin, Didier, Demily, Caroline, Petit, Michel, Thibaut, Florence, Frebourg, Thierry, Campion, Dominique, Raux, Grégory, Bumsel, Emilie, Hecketsweiler, Bernadette, van Amelsvoort, Therese, Zinkstok, Janneke, Manouvrier-Hanu, Sylvie, Fantini-Hauwel, Carole, Brévière, Georges-Marie M, Di Rosa, Gabriella, Pustorino, Giuseppina, Vogels, Annick, Swillen, Ann, Legallic, Solenn, Bou, Jacqueline, Opolczynski, Gaelle, Drouin-Garraud, Valérie, Lemarchand, Marie, Philip, Nicole, Gérard-Desplanches, Aude, Carlier, Michèle, Philippe, Anne, Nolen, Marie Christine, Heron, Delphine, Sarda, Pierre, Lacombe, Didier, Coizet, Cyril, Alembik, Yves, Layet, Valérie, Afenjar, Alexandra, Hannequin, Didier, Demily, Caroline, Petit, Michel, Thibaut, Florence, Frebourg, Thierry, and Campion, Dominique

Abstract

Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown in a hyperprolinemic mouse model that an interaction between two genes localized in the hemideleted region, proline dehydrogenase (PRODH) and catechol-o-methyl-transferase (COMT), could be involved in this phenotype. Here, we further characterize in eight children the molecular basis of type I hyperprolinemia (HPI), a recessive disorder resulting from reduced activity of proline dehydrogenase (POX). We show that these patients present with mental retardation, epilepsy and, in some cases, psychiatric features. We next report that, among 92 adult or adolescent VCFS subjects, a subset of patients with severe hyperprolinemia has a phenotype distinguishable from that of other VCFS patients and reminiscent of HPI. Forward stepwise multiple regression analysis selected hyperprolinemia, psychosis and COMT genotype as independent variables influencing IQ in the whole VCFS sample. An inverse correlation between plasma proline level and IQ was found. In addition, as predicted from the mouse model, hyperprolinemic VCFS subjects bearing the Met-COMT low activity allele are at risk for psychosis (OR = 2.8, 95% CI = 1.04-7.4). Finally, from the extensive analysis of the PRODH gene coding sequence variations, it is predicted that POX residual activity in the 0-30% range results into HPI, whereas residual activity in the 30-50% range is associated either with normal plasma proline levels or with mild-to-moderate hyperprolinemia., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Published
2007

Catalog

Books, media, physical & digital resources
See catalog results