18 results on '"Gonzalez-Peñas J"'
Search Results
2. Epigenetics in extremely preterm birth: associations with neurodevelopmental disorders and neonatal accelerated aging
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Gurriarán, X., González-Peñas, J., Martínez-Rábade, L., Merchán-Naranjo, J., Almansa, B., Recio, S., Blanco, D., Arriaga, M., Zeballos, S., Ghosh, F., Lizarán-Villalba, M., Arango, C., García-Blanco, A., and Pina-Camacho, L.
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- 2023
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3. Independent and joint effects of genetic predisposition to loneliness or isolation and environmental exposures in schizophrenia and first episode psychoses
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González-Peñas, J., Fernández-Moreno, P., Andreu-Bernabeu, Á., Diaz-Caneja, C., and Arango, C.
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- 2023
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4. Bidirectional links between socioeconomic status and schizophrenia – a multivariable mendelian randomisation study
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Andreu-Bernabeu, A., González-Peñas, J., Arango, C., and Diaz-Caneja, C.M.
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- 2023
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5. P.0291 Essential trace elements cooper and zinc and risk of mental health disorders: a two-sample mendelian randomization study
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Andreu-Bernabeu, A., primary, Diaz-Caneja, C.M., additional, Gonzalez-Peñas, J., additional, Stella, C., additional, Gurriaran, X., additional, Arango, C., additional, and Parellada, M., additional
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- 2021
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6. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Salpietro, V. Dixon, C.L. Guo, H. Bello, O.D. Vandrovcova, J. Efthymiou, S. Maroofian, R. Heimer, G. Burglen, L. Valence, S. Torti, E. Hacke, M. Rankin, J. Tariq, H. Colin, E. Procaccio, V. Striano, P. Mankad, K. Lieb, A. Chen, S. Pisani, L. Bettencourt, C. Männikkö, R. Manole, A. Brusco, A. Grosso, E. Ferrero, G.B. Armstrong-Moron, J. Gueden, S. Bar-Yosef, O. Tzadok, M. Monaghan, K.G. Santiago-Sim, T. Person, R.E. Cho, M.T. Willaert, R. Yoo, Y. Chae, J.-H. Quan, Y. Wu, H. Wang, T. Bernier, R.A. Xia, K. Blesson, A. Jain, M. Motazacker, M.M. Jaeger, B. Schneider, A.L. Boysen, K. Muir, A.M. Myers, C.T. Gavrilova, R.H. Gunderson, L. Schultz-Rogers, L. Klee, E.W. Dyment, D. Osmond, M. Parellada, M. Llorente, C. Gonzalez-Peñas, J. Carracedo, A. Van Haeringen, A. Ruivenkamp, C. Nava, C. Heron, D. Nardello, R. Iacomino, M. Minetti, C. Skabar, A. Fabretto, A. Hanna, M.G. Bugiardini, E. Hostettler, I. O’Callaghan, B. Khan, A. Cortese, A. O’Connor, E. Yau, W.Y. Bourinaris, T. Kaiyrzhanov, R. Chelban, V. Madej, M. Diana, M.C. Vari, M.S. Pedemonte, M. Bruno, C. Balagura, G. Scala, M. Fiorillo, C. Nobili, L. Malintan, N.T. Zanetti, M.N. Krishnakumar, S.S. Lignani, G. Jepson, J.E.C. Broda, P. Baldassari, S. Rossi, P. Fruscione, F. Madia, F. Traverso, M. De-Marco, P. Pérez-Dueñas, B. Munell, F. Kriouile, Y. El-Khorassani, M. Karashova, B. Avdjieva, D. Kathom, H. Tincheva, R. Van-Maldergem, L. Nachbauer, W. Boesch, S. Gagliano, A. Amadori, E. Goraya, J.S. Sultan, T. Kirmani, S. Ibrahim, S. Jan, F. Mine, J. Banu, S. Veggiotti, P. Zuccotti, G.V. Ferrari, M.D. Van Den Maagdenberg, A.M.J. Verrotti, A. Marseglia, G.L. Savasta, S. Soler, M.A. Scuderi, C. Borgione, E. Chimenz, R. Gitto, E. Dipasquale, V. Sallemi, A. Fusco, M. Cuppari, C. Cutrupi, M.C. Ruggieri, M. Cama, A. Capra, V. Mencacci, N.E. Boles, R. Gupta, N. Kabra, M. Papacostas, S. Zamba-Papanicolaou, E. Dardiotis, E. Maqbool, S. Rana, N. Atawneh, O. Lim, S.Y. Shaikh, F. Koutsis, G. Breza, M. Coviello, D.A. Dauvilliers, Y.A. AlKhawaja, I. AlKhawaja, M. Al-Mutairi, F. Stojkovic, T. Ferrucci, V. Zollo, M. Alkuraya, F.S. Kinali, M. Sherifa, H. Benrhouma, H. Turki, I.B.Y. Tazir, M. Obeid, M. Bakhtadze, S. Saadi, N.W. Zaki, M.S. Triki, C.C. Benfenati, F. Gustincich, S. Kara, M. Belcastro, V. Specchio, N. Capovilla, G. Karimiani, E.G. Salih, A.M. Okubadejo, N.U. Ojo, O.O. Oshinaike, O.O. Oguntunde, O. Wahab, K. Bello, A.H. Abubakar, S. Obiabo, Y. Nwazor, E. Ekenze, O. Williams, U. Iyagba, A. Taiwo, L. Komolafe, M. Senkevich, K. Shashkin, C. Zharkynbekova, N. Koneyev, K. Manizha, G. Isrofilov, M. Guliyeva, U. Salayev, K. Khachatryan, S. Rossi, S. Silvestri, G. Haridy, N. Ramenghi, L.A. Xiromerisiou, G. David, E. Aguennouz, M. Fidani, L. Spanaki, C. Tucci, A. Raspall-Chaure, M. Chez, M. Tsai, A. Fassi, E. Shinawi, M. Constantino, J.N. De Zorzi, R. Fortuna, S. Kok, F. Keren, B. Bonneau, D. Choi, M. Benzeev, B. Zara, F. Mefford, H.C. Scheffer, I.E. Clayton-Smith, J. Macaya, A. Rothman, J.E. Eichler, E.E. Kullmann, D.M. Houlden, H. SYNAPS Study Group
- Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission. © 2019, The Author(s).
- Published
- 2019
7. P.0172 Deciphering the role of MIR-137 targetome in schizophrenia: temporal profiling and comorbidity with psychiatric disorders
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Stella, C., De Hoyos, L., Díaz-Caneja, C. Martinèz, Parellada, M., López, C. Arango, and González-Peñas, J.
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- 2021
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8. Psychiatric comorbidities in high functioning autism: Polygenic overlap with major depression and attention deficit hyperactivity disorder
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González-Peñas, J., García-Alcon, A., Penzol, M.J., Hernández, P., Costas, J., and Parellada, M.
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- 2019
- Full Text
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9. The collaborative outcomes study on health and functioning during infection times in adults (COH-FIT-Adults): Design and methods of an international online survey targeting physical and mental health effects of the COVID-19 pandemic
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Solmi, Marco, Estradé, Andrés, Thompson, Trevor, Agorastos, Agorastos, Radua, Joaquim, Cortese, Samuele, Dragioti, Elena, Leisch, Friedrich, Vancampfort, Davy, Thygesen, Lau Caspar, Aschauer, Harald, Schloegelhofer, Monika, Akimova, Elena, Schneeberger, Andres, Huber, Christian, Hasler, Gregor, Conus, Philippe, Cuénod, Kim, von Känel, Roland, Arrondo, Gonzalo, Fusar-Poli, Paolo, Gorwood, Philip, Llorca, Pierre-Michel, Krebs, Marie-Odile, Scanferla, Elisabetta, Kishimoto, Taishiro, Rabbani, Golam, Skonieczna-Żydecka, Karolina, Brambilla, Paolo, Favaro, Angela, Takamiya, Akihiro, Zoccante, Leonardo, Colizzi, Marco, Bourgin, Julie, Kamiński, Karol, Moghadasin, Maryam, Seedat, Soraya, Matthews, Evan, Wells, John, Vassilopoulou, Emilia, Gadelha, Ary, Su, Kuan-Pin, Kwon, Jun Soo, Kim, Minah, Lee, Tae Young, Papsuev, Oleg, Manková, Denisa, Boscutti, Andrea, Gerunda, Cristiano, Saccon, Diego, Righi, Elena, Monaco, Francesco, Croatto, Giovanni, Cereda, Guido, Demurtas, Jacopo, Brondino, Natascia, Veronese, Nicola, Enrico, Paolo, Politi, Pierluigi, Ciappolino, Valentina, Pfennig, Andrea, Bechdolf, Andreas, Meyer-Lindenberg, Andreas, Kahl, Kai, Domschke, Katharina, Bauer, Michael, Koutsouleris, Nikolaos, Winter, Sibylle, Borgwardt, Stefan, Bitter, Istvan, Balazs, Judit, Czobor, Pal, Unoka, Zsolt, Mavridis, Dimitris, Tsamakis, Konstantinos, Bozikas, Vasilios, Tunvirachaisakul, Chavit, Maes, Michael, Rungnirundorn, Teerayuth, Supasitthumrong, Thitiporn, Haque, Ariful, Brunoni, Andre, Costardi, Carlos Gustavo, Schuch, Felipe Barreto, Polanczyk, Guilherme, Luiz, Jhoanne Merlyn, Fonseca, Lais, Aparicio, Luana, Valvassori, Samira, Nordentoft, Merete, Vendsborg, Per, Hoffmann, Sofie Have, Sehli, Jihed, Sartorius, Norman, Heuss, Sabina, Guinart, Daniel, Hamilton, Jane, Kane, John, Rubio, Jose, Sand, Michael, Koyanagi, Ai, Solanes, Aleix, Andreu-Bernabeu, Alvaro, Cáceres, Antonia San José, Arango, Celso, Díaz-Caneja, Covadonga, Hidalgo-Mazzei, Diego, Vieta, Eduard, Gonzalez-Peñas, Javier, Fortea, Lydia, Parellada, Mara, Fullana, Miquel, Verdolini, Norma, Fárková, Eva, Janků, Karolina, Millan, Mark, Honciuc, Mihaela, Moniuszko-Malinowska, Anna, Łoniewski, Igor, Samochowiec, Jerzy, Kiszkiel, Łukasz, Marlicz, Maria, Sowa, Paweł, Marlicz, Wojciech, Spies, Georgina, Stubbs, Brendon, Firth, Joseph, Sullivan, Sarah, Darcin, Asli Enez, Aksu, Hatice, Dilbaz, Nesrin, Noyan, Onur, Kitazawa, Momoko, Kurokawa, Shunya, Tazawa, Yuki, Anselmi, Alejandro, Cracco, Cecilia, Machado, Ana Inés, Estrade, Natalia, de Leo, Diego, Curtis, Jackie, Berk, Michael, Ward, Philip, Teasdale, Scott, Rosenbaum, Simon, Marx, Wolfgang, Horodnic, Adrian Vasile, Oprea, Liviu, Alexinschi, Ovidiu, Ifteni, Petru, Turliuc, Serban, Ciuhodaru, Tudor, Bolos, Alexandra, Matei, Valentin, Nieman, Dorien, Sommer, Iris, van Os, Jim, van Amelsvoort, Therese, Sun, Ching-Fang, Guu, Ta-Wei, Jiao, Can, Zhang, Jieting, Fan, Jialin, Zou, Liye, Yu, Xin, Chi, Xinli, de Timary, Philippe, van Winke, Ruud, Ng, Bernardo, Pena, Edilberto, Arellano, Ramon, Roman, Raquel, Sanchez, Thelma, Movina, Larisa, Morgado, Pedro, Brissos, Sofia, Aizberg, Oleg, Mosina, Anna, Krinitski, Damir, Mugisha, James, Sadeghi-Bahmani, Dena, Sadeghi, Masoud, Hadi, Samira, Brand, Serge, Errazuriz, Antonia, Crossley, Nicolas, Ristic, Dragana Ignjatovic, López-Jaramillo, Carlos, Efthymiou, Dimitris, Kuttichira, Praveenlal, Kallivayalil, Roy Abraham, Javed, Afzal, Afridi, Muhammad Iqbal, James, Bawo, Seb-Akahomen, Omonefe Joy, Fiedorowicz, Jess, Carvalho, Andre, Daskalakis, Jeff, Yatham, Lakshmi, Yang, Lin, Okasha, Tarek, Dahdouh, Aïcha, Gerdle, Björn, Tiihonen, Jari, Shin, Jae Il, Lee, Jinhee, Mhalla, Ahmed, Gaha, Lotfi, Brahim, Takoua, Altynbekov, Kuanysh, Negay, Nikolay, Nurmagambetova, Saltanat, Jamei, Yasser Abu, Weiser, Mark, Correll, Christoph, Thygesen, Lau, Kwon, Jun, Lee, Tae, Costardi, Carlos, Schuch, Felipe, Luiz, Jhoanne, Hoffmann, Sofie, Cáceres, Antonia, Darcin, Asli, Machado, Ana, Horodnic, Adrian, Ristic, Dragana, Kallivayalil, Roy, Afridi, Muhammad, Seb-Akahomen, Omonefe, Shin, Jae, Jamei, Yasser, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Movement Disorder (MD), Clinique des maladies mentales et de l'encéphale (CMME - Service de psychiatrie), Hôpital Sainte-Anne-Université Paris Cité (UPCité), GHU Paris Psychiatrie et Neurosciences, Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Clermont-Ferrand, Pathologies et épithéliums : prévention, innovation, traitements, évaluation (UR 4267) (PEPITE), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Martinez Rico, Clara, Solmi, M., Estradé, A., Thompson, T., Agorastos, A., Radua, J., Cortese, S., Dragioti, E., Leisch, F., Vancampfort, D., Thygesen, L.C., Aschauer, H., Schloegelhofer, M., Akimova, E., Schneeberger, A., Huber, C.G., Hasler, G., Conus, P., Cuénod, K.Q.D., von Känel, R., Arrondo, G., Fusar-Poli, P., Gorwood, P., Llorca, P.-M., Krebs, M.-O., Scanferla, E., Kishimoto, T., Rabbani, G., Skonieczna-Żydecka, K., Brambilla, P., Favaro, A., Takamiya, A., Zoccante, L., Colizzi, M., Bourgin, J., Kamiński, K., Moghadasin, M., Seedat, S., Matthews, E., Wells, J., Vassilopoulou, E., Gadelha, A., Su, K.-P., Kwon, J.S., Kim, M., Lee, T.Y., Papsuev, O., Manková, D., Boscutti, A., Gerunda, C., Saccon, D., Righi, E., Monaco, F., Croatto, G., Cereda, G., Demurtas, J., Brondino, N., Veronese, N., Enrico, P., Politi, P., Ciappolino, V., Pfennig, A., Bechdolf, A., Meyer-Lindenberg, A., Kahl, K.G., Domschke, K., Bauer, M., Koutsouleris, N., Winter, S., Borgwardt, S., Bitter, I., Balazs, J., Czobor, P., Unoka, Z., Mavridis, D., Tsamakis, K., Bozikas, V.P., Tunvirachaisakul, C., Maes, M., Rungnirundorn, T., Supasitthumrong, T., Haque, A., Brunoni, A.R., Costardi, C.G., Schuch, F.B., Polanczyk, G., Luiz, J.M., Fonseca, L., Aparicio, L.V., Valvassori, S.S., Nordentoft, M., Vendsborg, P., Hoffmann, S.H., Sehli, J., Sartorius, N., Heuss, S., Guinart, D., Hamilton, J., Kane, J., Rubio, J., Sand, M., Koyanagi, A., Solanes, A., Andreu-Bernabeu, A., Cáceres, A.S.J., Arango, C., Díaz-Caneja, C.M., Hidalgo-Mazzei, D., Vieta, E., Gonzalez-Peñas, J., Fortea, L., Parellada, M., Fullana, M.A., Verdolini, N., Fárková, E., Janků, K., Millan, M., Honciuc, M., Moniuszko-Malinowska, A., Łoniewski, I., Samochowiec, J., Kiszkiel, Ł., Marlicz, M., Sowa, P., Marlicz, W., Spies, G., Stubbs, B., Firth, J., Sullivan, S., Darcin, A.E., Aksu, H., Dilbaz, N., Noyan, O., Kitazawa, M., Kurokawa, S., Tazawa, Y., Anselmi, A., Cracco, C., Machado, A.I., Estrade, N., De Leo, D., Curtis, J., Berk, M., Ward, P., Teasdale, S., Rosenbaum, S., Marx, W., Horodnic, A.V., Oprea, L., Alexinschi, O., Ifteni, P., Turliuc, S., Ciuhodaru, T., Bolos, A., Matei, V., Nieman, D.H., Sommer, I., van Os, J., van Amelsvoort, T., Sun, C.-F., Guu, T.-W., Jiao, C., Zhang, J., Fan, J., Zou, L., Yu, X., Chi, X., de Timary, P., van Winke, R., Ng, B., Pena, E., Arellano, R., Roman, R., Sanchez, T., Movina, L., Morgado, P., Brissos, S., Aizberg, O., Mosina, A., Krinitski, D., Mugisha, J., Sadeghi-Bahmani, D., Sadeghi, M., Hadi, S., Brand, S., Errazuriz, A., Crossley, N., Ristic, D.I., López-Jaramillo, C., Efthymiou, D., Kuttichira, P., Kallivayalil, R.A., Javed, A., Afridi, M.I., James, B., Seb-Akahomen, O.J., Fiedorowicz, J., Carvalho, A.F., Daskalakis, J., Yatham, L.N., Yang, L., Okasha, T., Dahdouh, A., Gerdle, B., Tiihonen, J., Shin, J.I., Lee, J., Mhalla, A., Gaha, L., Brahim, T., Altynbekov, K., Negay, N., Nurmagambetova, S., Jamei, Y.A., Weiser, M., Correll, C.U., Adult Psychiatry, APH - Mental Health, ANS - Compulsivity, Impulsivity & Attention, and ANS - Mood, Anxiety, Psychosis, Stress & Sleep
- Subjects
Gerontology ,DISORDER ,STRESS ,Outcome Assessment ,IMPACT ,[SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health ,RA0421 ,well-being ,Pandemic ,Health care ,Outcome Assessment, Health Care ,adults ,Medicine ,ANXIETY ,COVID-19 ,mental health ,functioning ,physical health ,representative ,resilience ,survey ,international ,psychiatry ,depression ,anxiety ,post-traumatic ,COH-FIT ,children ,adolescents ,mental health, functioning, physical health, representative, well-being, resilience, survey, international, psychiatry, depression, anxiety, post-traumatic, COH-FIT, children, adolescents, adult ,Child ,SCALE ,Psychiatry ,education.field_of_study ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Public Health, Global Health, Social Medicine and Epidemiology ,Psychiatry and Mental health ,Clinical Psychology ,Professional association ,Life Sciences & Biomedicine ,Psychopathology ,Research Paper ,Adult ,Coronavirus disease 2019 (COVID-19) ,Adolescent ,Population ,Clinical Neurology ,BF ,Anxiety ,Cross-Sectional Studies ,Depression ,Humans ,Mental Health ,SARS-CoV-2 ,Pandemics ,Intervention (counseling) ,MANAGEMENT ,VALIDITY ,education ,Science & Technology ,business.industry ,MORTALITY ,CARE ,Mental health ,Health Care ,Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi ,[SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health ,Neurosciences & Neurology ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
BACKGROUND: . High-quality comprehensive data on short-/long-term physical/mental health effects of the COVID-19 pandemic are needed. METHODS: . The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) is an international, multi-language (n=30) project involving >230 investigators from 49 countries/territories/regions, endorsed by national/international professional associations. COH-FIT is a multi-wave, on-line anonymous, cross-sectional survey [wave 1: 04/2020 until the end of the pandemic, 12 months waves 2/3 starting 6/24 months threreafter] for adults, adolescents (14-17), and children (6-13), utilizing non-probability/snowball and representative sampling. COH-FIT aims to identify non-modifiable/modifiable risk factors/treatment targets to inform prevention/intervention programs to improve social/health outcomes in the general population/vulnerable subgrous during/after COVID-19. In adults, co-primary outcomes are change from pre-COVID-19 to intra-COVID-19 in well-being (WHO-5) and a composite psychopathology P-Score. Key secondary outcomes are a P-extended score, global mental and physical health. Secondary outcomes include health-service utilization/functioning, treatment adherence, functioning, symptoms/behaviors/emotions, substance use, violence, among others. RESULTS: . Starting 04/26/2020, up to 14/07/2021 >151,000 people from 155 countries/territories/regions and six continents have participated. Representative samples of ≥1,000 adults have been collected in 15 countries. Overall, 43.0% had prior physical disorders, 16.3% had prior mental disorders, 26.5% were health care workers, 8.2% were aged ≥65 years, 19.3% were exposed to someone infected with COVID-19, 76.1% had been in quarantine, and 2.1% had been COVID 19-positive. LIMITATIONS: . Cross-sectional survey, preponderance of non-representative participants. CONCLUSIONS: . Results from COH-FIT will comprehensively quantify the impact of COVID-19, seeking to identify high-risk groups in need for acute and long-term intervention, and inform evidence-based health policies/strategies during this/future pandemics. ispartof: JOURNAL OF AFFECTIVE DISORDERS vol:299 pages:393-407 ispartof: location:Netherlands status: published
- Published
- 2022
10. Physical and mental health impact of COVID-19 on children, adolescents, and their families: The Collaborative Outcomes study on Health and Functioning during Infection Times-Children and Adolescents (COH-FIT-C&A)
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Solmi, Marco, Estradé, Andrés, Thompson, Trevor, Agorastos, Agorastos, Radua, Joaquim, Cortese, Samuele, Dragioti, Elena, Leisch, Friedrich, Vancampfort, Davy, Thygesen, Lau Caspar, Aschauer, Harald, Schloegelhofer, Monika, Akimova, Elena, Schneeberger, Andres, Huber, Christian, Hasler, Gregor, Conus, Philippe, Cuénod, Kim, von Känel, Roland, Arrondo, Gonzalo, Fusar-Poli, Paolo, Gorwood, Philip, Llorca, Pierre-Michel, Krebs, Marie-Odile, Scanferla, Elisabetta, Kishimoto, Taishiro, Rabbani, Golam, Skonieczna-Żydecka, Karolina, Brambilla, Paolo, Favaro, Angela, Takamiya, Akihiro, Zoccante, Leonardo, Colizzi, Marco, Bourgin, Julie, Kamiński, Karol, Moghadasin, Maryam, Seedat, Soraya, Matthews, Evan, Wells, John, Vassilopoulou, Emilia, Gadelha, Ary, Su, Kuan-Pin, Kwon, Jun Soo, Kim, Minah, Lee, Tae Young, Papsuev, Oleg, Manková, Denisa, Boscutti, Andrea, Gerunda, Cristiano, Saccon, Diego, Righi, Elena, Monaco, Francesco, Croatto, Giovanni, Cereda, Guido, Demurtas, Jacopo, Brondino, Natascia, Veronese, Nicola, Enrico, Paolo, Politi, Pierluigi, Ciappolino, Valentina, Pfennig, Andrea, Bechdolf, Andreas, Meyer-Lindenberg, Andreas, Kahl, Kai, Domschke, Katharina, Bauer, Michael, Koutsouleris, Nikolaos, Winter, Sibylle, Borgwardt, Stefan, Bitter, Istvan, Balazs, Judit, Czobor, Pal, Unoka, Zsolt, Mavridis, Dimitris, Tsamakis, Konstantinos, Bozikas, Vasilios, Tunvirachaisakul, Chavit, Maes, Michael, Rungnirundorn, Teerayuth, Supasitthumrong, Thitiporn, Haque, Ariful, Brunoni, Andre, Costardi, Carlos Gustavo, Schuch, Felipe Barreto, Polanczyk, Guilherme, Luiz, Jhoanne Merlyn, Fonseca, Lais, Aparicio, Luana, Valvassori, Samira, Nordentoft, Merete, Vendsborg, Per, Hoffmann, Sofie Have, Sehli, Jihed, Sartorius, Norman, Heuss, Sabina, Guinart, Daniel, Hamilton, Jane, Kane, John, Rubio, Jose, Sand, Michael, Koyanagi, Ai, Solanes, Aleix, Andreu-Bernabeu, Alvaro, Cáceres, Antonia San José, Arango, Celso, Díaz-Caneja, Covadonga, Hidalgo-Mazzei, Diego, Vieta, Eduard, Gonzalez-Peñas, Javier, Fortea, Lydia, Parellada, Mara, Fullana, Miquel, Verdolini, Norma, Fárková, Eva, Janků, Karolina, Millan, Mark, Honciuc, Mihaela, Moniuszko-Malinowska, Anna, Łoniewski, Igor, Samochowiec, Jerzy, Kiszkiel, Łukasz, Marlicz, Maria, Sowa, Paweł, Marlicz, Wojciech, Spies, Georgina, Stubbs, Brendon, Firth, Joseph, Sullivan, Sarah, Darcin, Asli Enez, Aksu, Hatice, Dilbaz, Nesrin, Noyan, Onur, Kitazawa, Momoko, Kurokawa, Shunya, Tazawa, Yuki, Anselmi, Alejandro, Cracco, Cecilia, Machado, Ana Inés, Estrade, Natalia, de Leo, Diego, Curtis, Jackie, Berk, Michael, Ward, Philip, Teasdale, Scott, Rosenbaum, Simon, Marx, Wolfgang, Horodnic, Adrian Vasile, Oprea, Liviu, Alexinschi, Ovidiu, Ifteni, Petru, Turliuc, Serban, Ciuhodaru, Tudor, Bolos, Alexandra, Matei, Valentin, Nieman, Dorien, Sommer, Iris, van Os, Jim, van Amelsvoort, Therese, Sun, Ching-Fang, Guu, Ta-Wei, Jiao, Can, Zhang, Jieting, Fan, Jialin, Zou, Liye, Yu, Xin, Chi, Xinli, de Timary, Philippe, van Winke, Ruud, Ng, Bernardo, Pena, Edilberto, Arellano, Ramon, Roman, Raquel, Sanchez, Thelma, Movina, Larisa, Morgado, Pedro, Brissos, Sofia, Aizberg, Oleg, Mosina, Anna, Krinitski, Damir, Mugisha, James, Sadeghi-Bahmani, Dena, Sadeghi, Masoud, Hadi, Samira, Brand, Serge, Errazuriz, Antonia, Crossley, Nicolas, Ristic, Dragana Ignjatovic, López-Jaramillo, Carlos, Efthymiou, Dimitris, Kuttichira, Praveenlal, Kallivayalil, Roy Abraham, Javed, Afzal, Afridi, Muhammad Iqbal, James, Bawo, Seb-Akahomen, Omonefe Joy, Fiedorowicz, Jess, Carvalho, Andre, Daskalakis, Jeff, Yatham, Lakshmi, Yang, Lin, Okasha, Tarek, Dahdouh, Aïcha, Gerdle, Björn, Tiihonen, Jari, Shin, Jae Il, Lee, Jinhee, Mhalla, Ahmed, Gaha, Lotfi, Brahim, Takoua, Altynbekov, Kuanysh, Negay, Nikolay, Nurmagambetova, Saltanat, Jamei, Yasser Abu, Weiser, Mark, Correll, Christoph, Thygesen, Lau, Kwon, Jun, Lee, Tae, Costardi, Carlos, Schuch, Felipe, Luiz, Jhoanne, Hoffmann, Sofie, Cáceres, Antonia, Darcin, Asli, Machado, Ana, Horodnic, Adrian, Ristic, Dragana, Kallivayalil, Roy, Afridi, Muhammad, Seb-Akahomen, Omonefe, Shin, Jae, Jamei, Yasser, RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Movement Disorder (MD), Solmi, M., Estradé, A., Thompson, T., Agorastos, A., Radua, J., Cortese, S., Dragioti, E., Leisch, F., Vancampfort, D., Thygesen, L.C., Aschauer, H., Schloegelhofer, M., Akimova, E., Schneeberger, A., Huber, C.G., Hasler, G., Conus, P., Cuénod, K.Q.D., von Känel, R., Arrondo, G., Fusar-Poli, P., Gorwood, P., Llorca, P.-M., Krebs, M.-O., Scanferla, E., Kishimoto, T., Rabbani, G., Skonieczna-Żydecka, K., Brambilla, P., Favaro, A., Takamiya, A., Zoccante, L., Colizzi, M., Bourgin, J., Kamiński, K., Moghadasin, M., Seedat, S., Matthews, E., Wells, J., Vassilopoulou, E., Gadelha, A., Su, K.-P., Kwon, J.S., Kim, M., Lee, T.Y., Papsuev, O., Manková, D., Boscutti, A., Gerunda, C., Saccon, D., Righi, E., Monaco, F., Croatto, G., Cereda, G., Demurtas, J., Brondino, N., Veronese, N., Enrico, P., Politi, P., Ciappolino, V., Pfennig, A., Bechdolf, A., Meyer-Lindenberg, A., Kahl, K.G., Domschke, K., Bauer, M., Koutsouleris, N., Winter, S., Borgwardt, S., Bitter, I., Balazs, J., Czobor, P., Unoka, Z., Mavridis, D., Tsamakis, K., Bozikas, V.P., Tunvirachaisakul, C., Maes, M., Rungnirundorn, T., Supasitthumrong, T., Haque, A., Brunoni, A.R., Costardi, C.G., Schuch, F.B., Polanczyk, G., Luiz, J.M., Fonseca, L., Aparicio, L.V., Valvassori, S.S., Nordentoft, M., Vendsborg, P., Hoffmann, S.H., Sehli, J., Sartorius, N., Heuss, S., Guinart, D., Hamilton, J., Kane, J., Rubio, J., Sand, M., Koyanagi, A., Solanes, A., Andreu-Bernabeu, A., Cáceres, A.S.J., Arango, C., Díaz-Caneja, C.M., Hidalgo-Mazzei, D., Vieta, E., Gonzalez-Peñas, J., Fortea, L., Parellada, M., Fullana, M.A., Verdolini, N., Fárková, E., Janků, K., Millan, M., Honciuc, M., Moniuszko-Malinowska, A., Łoniewski, I., Samochowiec, J., Kiszkiel, Ł., Marlicz, M., Sowa, P., Marlicz, W., Spies, G., Stubbs, B., Firth, J., Sullivan, S., Darcin, A.E., Aksu, H., Dilbaz, N., Noyan, O., Kitazawa, M., Kurokawa, S., Tazawa, Y., Anselmi, A., Cracco, C., Machado, A.I., Estrade, N., De Leo, D., Curtis, J., Berk, M., Ward, P., Teasdale, S., Rosenbaum, S., Marx, W., Horodnic, A.V., Oprea, L., Alexinschi, O., Ifteni, P., Turliuc, S., Ciuhodaru, T., Bolos, A., Matei, V., Nieman, D.H., Sommer, I., van Os, J., van Amelsvoort, T., Sun, C.-F., Guu, T.-W., Jiao, C., Zhang, J., Fan, J., Zou, L., Yu, X., Chi, X., de Timary, P., van Winke, R., Ng, B., Pena, E., Arellano, R., Roman, R., Sanchez, T., Movina, L., Morgado, P., Brissos, S., Aizberg, O., Mosina, A., Krinitski, D., Mugisha, J., Sadeghi-Bahmani, D., Sadeghi, M., Hadi, S., Brand, S., Errazuriz, A., Crossley, N., Ristic, D.I., López-Jaramillo, C., Efthymiou, D., Kuttichira, P., Kallivayalil, R.A., Javed, A., Afridi, M.I., James, B., Seb-Akahomen, O.J., Fiedorowicz, J., Carvalho, A.F., Daskalakis, J., Yatham, L.N., Yang, L., Okasha, T., Dahdouh, A., Gerdle, B., Tiihonen, J., Shin, J.I., Lee, J., Mhalla, A., Gaha, L., Brahim, T., Altynbekov, K., Negay, N., Nurmagambetova, S., Jamei, Y.A., Weiser, M., Correll, C.U., Adult Psychiatry, APH - Mental Health, ANS - Compulsivity, Impulsivity & Attention, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, Martinez Rico, Clara, Clinique des maladies mentales et de l'encéphale (CMME - Service de psychiatrie), Hôpital Sainte-Anne-Université Paris Cité (UPCité), GHU Paris Psychiatrie et Neurosciences, Institut de psychiatrie et neurosciences de Paris (IPNP - U1266 Inserm), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), CHU Clermont-Ferrand, Pathologies et épithéliums : prévention, innovation, traitements, évaluation (UR 4267) (PEPITE), Université de Franche-Comté (UFC), and Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)
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Gerontology ,DISORDER ,[SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health ,Psychological intervention ,Physical health ,Adolescents ,HV ,Children ,Covid-19 ,Mental health ,Pandemic ,Resilience ,RA0421 ,Medicine ,Adolescent ,Adult ,Child ,Cross-Sectional Studies ,Health Promotion ,Humans ,Mental Health ,Pandemics ,Quality of Life ,SARS-CoV-2 ,COVID-19 ,SCALE ,media_common ,Psychiatry ,[SDV.MHEP] Life Sciences [q-bio]/Human health and pathology ,Public Health, Global Health, Social Medicine and Epidemiology ,Psychiatry and Mental health ,Clinical Psychology ,Professional association ,Psychological resilience ,Life Sciences & Biomedicine ,Psychopathology ,Covid-19, Pandemic, Mental health, Physical health, Resilience, Children, Adolescents ,media_common.quotation_subject ,Clinical Neurology ,BF ,Article ,Quality of life (healthcare) ,Intervention (counseling) ,VALIDITY ,Science & Technology ,business.industry ,Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi ,[SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health ,Neurosciences & Neurology ,business ,[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology - Abstract
BACKGROUND: The COVID-19 pandemic has altered daily routines and family functioning, led to closing schools, and dramatically limited social interactions worldwide. Measuring its impact on mental health of vulnerable children and adolescents is crucial. METHODS: The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT - www.coh-fit.com) is an on-line anonymous survey, available in 30 languages, involving >230 investigators from 49 countries supported by national/international professional associations. COH-FIT has thee waves (until the pandemic is declared over by the WHO, and 6-18 months plus 24-36 months after its end). In addition to adults, COH-FIT also includes adolescents (age 14-17 years), and children (age 6-13 years), recruited via non-probability/snowball and representative sampling and assessed via self-rating and parental rating. Non-modifiable/modifiable risk factors/treatment targets to inform prevention/intervention programs to promote health and prevent mental and physical illness in children and adolescents will be generated by COH-FIT. Co-primary outcomes are changes in well-being (WHO-5) and a composite psychopathology P-Score. Multiple behavioral, family, coping strategy and service utilization factors are also assessed, including functioning and quality of life. RESULTS: Up to June 2021, over 13,000 children and adolescents from 59 countries have participated in the COH-FIT project, with representative samples from eleven countries. LIMITATIONS: Cross-sectional and anonymous design. CONCLUSIONS: Evidence generated by COH-FIT will provide an international estimate of the COVID-19 effect on children's, adolescents' and families', mental and physical health, well-being, functioning and quality of life, informing the formulation of present and future evidence-based interventions and policies to minimize adverse effects of the present and future pandemics on youth. ispartof: JOURNAL OF AFFECTIVE DISORDERS vol:299 pages:367-376 ispartof: location:Netherlands status: published
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- 2022
11. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Vincenzo Salpietro1, 2 3, 140, Christine L. Dixon4, Hui Guo5, 6 140, Oscar D. Bello Stephanie Efthymiou 1, 4, Reza Maroofian1, Gali Heimer7, Lydie Burglen 8, Stephanie Valence 9, Erin Torti 10, Moritz Hacke11, Julia Rankin12, Huma Tariq1, Estelle Colin13, Vincent Procaccio13, Pasquale Striano2, 3, Kshitij Mankad15, Andreas Lieb 4, Sharon Chen16, Laura Pisani16, Conceicao Bettencourt 17, Roope Männikkö 1, Andreea Manole1, Alfredo Brusco 18, Enrico Grosso18, Giovanni Battista Ferrero19, Judith Armstrong-Moron20, Sophie Gueden21, Omer Bar-Yosef7, Michal Tzadok7, Kristin G. Monaghan10, Teresa Santiago-Sim10, Richard E. Person10, Megan T. Cho10, Rebecca Willaert10, Yongjin Yoo22, Jong-Hee Chae23, Yingting Quan6, Huidan Wu6, Tianyun Wang5, 6, Raphael A. Bernier24, Kun Xia6, Alyssa Blesson25, Mahim Jain25, Mohammad M. Motazacker26, Bregje Jaeger27, Amy L. Schneider 28, Katja Boysen28, Alison M. Muir 29, Candace T. Myers30, Ralitza H. Gavrilova31, Lauren Gunderson31, Laura Schultz-Rogers 31, Eric W. Klee31, David Dyment32, Matthew Osmond32, 33 34, Mara Parellada35, Cloe Llorente36, Javier Gonzalez-Peñas37, Angel Carracedo38, Arie Van Haeringen40, Claudia Ruivenkamp40, Caroline Nava41, Delphine Heron41, Rosaria Nardello42, Michele Iacomino43, Carlo Minetti2, Aldo Skabar44, Antonella Fabretto44, SYNAPS Study GroupMiquel Raspall-Chaure45, Michael Chez46, Anne Tsai47, Emily Fassi48, Marwan Shinawi48, John N. Constantino49, Rita De Zorzi50, Sara Fortuna 50, Fernando Kok51, Boris Keren41, Dominique Bonneau13, Murim Choi 22, Bruria Benzeev7, Federico Zara43, Heather C. Mefford29, Ingrid E. Scheffer28, Jill Clayton-Smith53, Alfons Macaya45, James E. Rothman4, Evan E. Eichler 5, Dimitri M. Kullmann 4, Henry Houlden 1, SYNAPS Study Group Michael G. Hanna1, Enrico Bugiardini1, Isabel Hostettler1, Benjamin O’Callaghan1, Alaa Khan1, Andrea Cortese1, Emer O’Connor1, Wai Y. Yau1, Thomas Bourinaris1, Rauan Kaiyrzhanov1, Viorica Chelban1, Monika Madej1, Maria C. Diana2, Maria S. Vari2, Marina Pedemonte2, Claudio Bruno2, Ganna Balagura3, Marcello Scala3, Chiara Fiorillo3, Lino Nobili3, Nancy T. Malintan4, Maria N. Zanetti4, Shyam S. Krishnakumar4, Gabriele Lignani4, James E. C. Jepson4, Paolo Broda43, Simona Baldassari43, Pia Rossi43, Floriana Fruscione43, Francesca Madia43, Monica Traverso43, Patrizia De-Marco43, Belen Pérez-Dueñas45, Francina Munell45, Yamna Kriouile57, Mohamed El-Khorassani57, Blagovesta Karashova58, Daniela Avdjieva58, Hadil Kathom58, Radka Tincheva58, Lionel Van-Maldergem59, Wolfgang Nachbauer60, Sylvia Boesch60, Antonella Gagliano61, Elisabetta Amadori62, Jatinder S. Goraya63, Tipu Sultan64, Salman Kirmani65, Shahnaz Ibrahim66, Farida Jan66, Jun Mine67, Selina Banu68, Pierangelo Veggiotti69, Gian V. Zuccotti69, Michel D. Ferrari70, Arn M. J. Van Den Maagdenberg70, Alberto Verrotti71, Gian L. Marseglia72, Salvatore Savasta72, Miguel A. Soler73, Carmela Scuderi74, Eugenia Borgione74, Roberto Chimenz75, Eloisa Gitto75, Valeria Dipasquale75, Alessia Sallemi75, Monica Fusco75, Caterina Cuppari75, Maria C. Cutrupi75, Martino Ruggieri76, Armando Cama77, Valeria Capra77, Niccolò E. Mencacci78, Richard Boles79, Neerja Gupta80, Madhulika Kabra80, Savvas Papacostas81, Eleni Zamba-Papanicolaou81, Efthymios Dardiotis82, Shazia Maqbool83, Nuzhat Rana84, Osama Atawneh85, Shen Y. Lim86, Farooq Shaikh87, George Koutsis88, Marianthi Breza88, Domenico A. Coviello89, Yves A. Dauvilliers90, Issam AlKhawaja91, Mariam AlKhawaja92, Fuad Al-Mutairi93, Tanya Stojkovic94, Veronica Ferrucci, Massimo Zollo, Fowzan S. Alkuraya96, Maria Kinali97, Hamed Sherifa98, Hanene Benrhouma99, Ilhem B. Y. Turki99, Meriem Tazir100, Makram Obeid101, Sophia Bakhtadze102, Nebal W. Saadi103, Maha S. Zaki104, Chahnez C. Triki105, Fabio Benfenati106, Stefano Gustincich106, Majdi Kara107, Vincenzo Belcastro108, Nicola Specchio109, Giuseppe Capovilla110, Ehsan G. Karimiani111, Ahmed M. Salih112, Njideka U. Okubadejo113, Oluwadamilola O. Ojo113, Olajumoke O. Oshinaike113, Olapeju Oguntunde113, Kolawole Wahab114, Abiodun H. Bello114, Sanni Abubakar115, Yahaya Obiabo116, Ernest Nwazor117, Oluchi Ekenze118, Uduak Williams119, Alagoma Iyagba120, Lolade Taiwo121, Morenikeji Komolafe122, Konstantin Senkevich123, Chingiz Shashkin124, Nazira Zharkynbekova125, Kairgali Koneyev126, Ganieva Manizha127, Maksud Isrofilov127, Ulviyya Guliyeva128, Kamran Salayev129, Samson Khachatryan130, Salvatore Rossi131, Gabriella Silvestri131, Nourelhoda Haridy132, Luca A. Ramenghi133, Georgia Xiromerisiou134, Emanuele David135, Mhammed Aguennouz136, Liana Fidani137, Cleanthe Spanaki138, Arianna Tucci139, University College of London [London] (UCL), Instituto Giannina Gaslini, Genoa, University of Genoa (UNIGE), University of Washington [Seattle], Institute of Neurology, Queen Square, London, King‘s College London, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Tel Aviv University Sackler School of Medicine [Tel Aviv, Israël], Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Neuropédiatrie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), GeneDx [Gaithersburg, MD, USA], Heidelberg University Hospital [Heidelberg], Royal Devon and Exeter NHS Foundation Trust [UK], Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Universita degli studi di Genova, Great Ormond Street Hospital for Children [London] (GOSH), The University of Sydney, Hofstra University [Hempstead], Università degli studi di Torino (UNITO), Hospital Sant Joan de Déu [Barcelona], Safra Children's Hospital, Seoul National University Hospital, Central South University [Changsha], Kennedy Krieger Institute [Baltimore], University of Amsterdam [Amsterdam] (UvA), University of Melbourne, Mayo Clinic [Rochester], Department of Health Sciences Research [Mayo Clinic] (HSR), Mayo Clinic, University of Ottawa [Ottawa], University of British Columbia (UBC), Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Universidade de Santiago de Compostela [Spain] (USC ), Universiteit Leiden [Leiden], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Palermo - University of Palermo, University of Trieste, Universitat Autònoma de Barcelona (UAB), Department of Neurology and Center for Neuroscience, University of California at Davis, Sacramento, University of California [Davis] (UC Davis), University of California-University of California, Children’s Hospital Colorado, University of Colorado Anschutz [Aurora], Washington University in Saint Louis (WUSTL), Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Department of Psychiatry, Laboratory of Molecular Biophysics, Department of Biochemistry, University of Oxford, University of Oxford [Oxford], University of São Paulo (USP), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Service de Pédiatrie, CHUR Poitiers, Seoul National University [Seoul] (SNU), Pediatric Neurology and Neuromuscular Diseases Unit, University of Manchester [Manchester], Yale University School of Medicine, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Salvy-Córdoba, Nathalie, Università degli studi di Genova = University of Genoa (UniGe), Tel Aviv University (TAU), Università degli studi di Torino = University of Turin (UNITO), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Trieste = University of Trieste, University of California (UC)-University of California (UC), University of Oxford, Universidade de São Paulo = University of São Paulo (USP), Yale School of Medicine [New Haven, Connecticut] (YSM), Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H, Salpietro, Vincenzo, Dixon, Christine L, Guo, Hui, Bello, Oscar D, Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andrea, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G, Santiago-Sim, Teresa, Person, Richard E, Cho, Megan T, Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A, Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M, Jaeger, Bregje, Schneider, Amy L, Boysen, Katja, Muir, Alison M, Myers, Candace T, Gavrilova, Ralitza H, Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W, Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N, De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Bori, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C, Scheffer, Ingrid E, Clayton-Smith, Jill, Macaya, Alfon, Rothman, James E, Eichler, Evan E, Kullmann, Dimitri M, Houlden, Henry, Salpietro1, Vincenzo, 3, 2, Dixon4, Christine L., Guo5, Hui, 140, 6, Bello Stephanie Efthymiou 1, Oscar D., Maroofian1, Reza, Heimer7, Gali, 8, Lydie Burglen, 9, Stephanie Valence, Torti 10, Erin, Hacke11, Moritz, Rankin12, Julia, Tariq1, Huma, Colin13, Estelle, Procaccio13, Vincent, Striano2, Pasquale, Mankad15, Kshitij, 4, Andreas Lieb, Chen16, Sharon, Pisani16, Laura, Bettencourt 17, Conceicao, 1, Roope Männikkö, Manole1, Andreea, Brusco 18, Alfredo, Grosso18, Enrico, Battista Ferrero19, Giovanni, Armstrong-Moron20, Judith, Gueden21, Sophie, Bar-Yosef7, Omer, Tzadok7, Michal, Monaghan10, Kristin G., Santiago-Sim10, Teresa, Person10, Richard E., Cho10, Megan T., Willaert10, Rebecca, Yoo22, Yongjin, Chae23, Jong-Hee, Quan6, Yingting, Wu6, Huidan, Wang5, Tianyun, Bernier24, Raphael A., Xia6, Kun, Blesson25, Alyssa, Jain25, Mahim, Motazacker26, Mohammad M., Jaeger27, Bregje, Schneider 28, Amy L., Boysen28, Katja, Muir 29, Alison M., Myers30, Candace T., Gavrilova31, Ralitza H., Gunderson31, Lauren, Schultz-Rogers 31, Laura, Klee31, Eric W., Dyment32, David, Osmond32, Matthew, 34, 33, Parellada35, Mara, Llorente36, Cloe, Gonzalez-Peñas37, Javier, Carracedo38, Angel, Van Haeringen40, Arie, Ruivenkamp40, Claudia, Nava41, Caroline, Heron41, Delphine, Nardello42, Rosaria, Iacomino43, Michele, Minetti2, Carlo, Skabar44, Aldo, Fabretto44, Antonella, Study GroupMiquel Raspall-Chaure45, Synap, Chez46, Michael, Tsai47, Anne, Fassi48, Emily, Shinawi48, Marwan, Constantino49, John N., De Zorzi50, Rita, Fortuna 50, Sara, Kok51, Fernando, Keren41, Bori, Bonneau13, Dominique, Choi 22, Murim, Benzeev7, Bruria, Zara43, Federico, Mefford29, Heather C., Scheffer28, Ingrid E., Clayton-Smith53, Jill, Macaya45, Alfon, Rothman4, James E., Eichler 5, Evan E., Kullmann 4 &, Dimitri M., 1, Henry Houlden, Hanna1, SYNAPS Study Group Michael G., Bugiardini1, Enrico, Hostettler1, Isabel, O’Callaghan1, Benjamin, Khan1, Alaa, Cortese1, Andrea, O’Connor1, Emer, Yau1, Wai Y., Bourinaris1, Thoma, Kaiyrzhanov1, Rauan, Chelban1, Viorica, Madej1, Monika, Diana2, Maria C., Vari2, Maria S., Pedemonte2, Marina, Bruno2, Claudio, Balagura3, Ganna, Scala3, Marcello, Fiorillo3, Chiara, Nobili3, Lino, Malintan4, Nancy T., Zanetti4, Maria N., Krishnakumar4, Shyam S., Lignani4, Gabriele, Jepson4, James E. C., Broda43, Paolo, Baldassari43, Simona, Rossi43, Pia, Fruscione43, Floriana, Madia43, Francesca, Traverso43, Monica, De-Marco43, Patrizia, Pérez-Dueñas45, Belen, Munell45, Francina, Kriouile57, Yamna, El-Khorassani57, Mohamed, Karashova58, Blagovesta, Avdjieva58, Daniela, Kathom58, Hadil, Tincheva58, Radka, Van-Maldergem59, Lionel, Nachbauer60, Wolfgang, Boesch60, Sylvia, Gagliano61, Antonella, Amadori62, Elisabetta, Goraya63, Jatinder S., Sultan64, Tipu, Kirmani65, Salman, Ibrahim66, Shahnaz, Jan66, Farida, Mine67, Jun, Banu68, Selina, Veggiotti69, Pierangelo, Zuccotti69, Gian V., Ferrari70, Michel D., Van Den Maagdenberg70, Arn M. J., Verrotti71, Alberto, Marseglia72, Gian L., Savasta72, Salvatore, Soler73, Miguel A., Scuderi74, Carmela, Borgione74, Eugenia, Chimenz75, Roberto, Gitto75, Eloisa, Dipasquale75, Valeria, Sallemi75, Alessia, Fusco75, Monica, Cuppari75, Caterina, Cutrupi75, Maria C., Ruggieri76, Martino, Cama77, Armando, Capra77, Valeria, Mencacci78, Niccolò E., Boles79, Richard, Gupta80, Neerja, Kabra80, Madhulika, Papacostas81, Savva, Zamba-Papanicolaou81, Eleni, Dardiotis82, Efthymio, Maqbool83, Shazia, Rana84, Nuzhat, Atawneh85, Osama, Lim86, Shen Y., Shaikh87, Farooq, Koutsis88, George, Breza88, Marianthi, Coviello89, Domenico A., Dauvilliers90, Yves A., Alkhawaja91, Issam, Alkhawaja92, Mariam, Al-Mutairi93, Fuad, Stojkovic94, Tanya, Ferrucci, Veronica, Zollo, Massimo, Alkuraya96, Fowzan S., Kinali97, Maria, Sherifa98, Hamed, Benrhouma99, Hanene, Turki99, Ilhem B. Y., Tazir100, Meriem, Obeid101, Makram, Bakhtadze102, Sophia, Saadi103, Nebal W., Zaki104, Maha S., Triki105, Chahnez C., Benfenati106, Fabio, Gustincich106, Stefano, Kara107, Majdi, Belcastro108, Vincenzo, Specchio109, Nicola, Capovilla110, Giuseppe, Karimiani111, Ehsan G., Salih112, Ahmed M., Okubadejo113, Njideka U., Ojo113, Oluwadamilola O., Oshinaike113, Olajumoke O., Oguntunde113, Olapeju, Wahab114, Kolawole, Bello114, Abiodun H., Abubakar115, Sanni, Obiabo116, Yahaya, Nwazor117, Ernest, Ekenze118, Oluchi, Williams119, Uduak, Iyagba120, Alagoma, Taiwo121, Lolade, Komolafe122, Morenikeji, Senkevich123, Konstantin, Shashkin124, Chingiz, Zharkynbekova125, Nazira, Koneyev126, Kairgali, Manizha127, Ganieva, Isrofilov127, Maksud, Guliyeva128, Ulviyya, Salayev129, Kamran, Khachatryan130, Samson, Rossi131, Salvatore, Silvestri131, Gabriella, Haridy132, Nourelhoda, Ramenghi133, Luca A., Xiromerisiou134, Georgia, David135, Emanuele, Aguennouz136, Mhammed, Fidani137, Liana, Spanaki138 &, Cleanthe, and Tucci139, Arianna
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Male ,[SDV.GEN] Life Sciences [q-bio]/Genetics ,Ion channels in the nervous system ,Cohort Studies ,fluids and secretions ,Loss of Function Mutation ,Receptors ,AMPA ,AMPA receptor ,lcsh:Science ,Child ,reproductive and urinary physiology ,AMPA receptor, GluA2, neurodevelopmental disorders, autism spectrum disorder, glutamatergic synaptic transmission, GRIA2 ,neurodevelopmental disorders ,Developmental disorders ,Neurodevelopmental disorders ,Brain ,Magnetic Resonance Imaging ,Settore MED/26 - NEUROLOGIA ,GluA2 ,Child, Preschool ,Female ,Adult ,Heterozygote ,Adolescent ,Science ,autism spectrum disorder ,Article ,Young Adult ,[SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/Pediatrics ,MESH: Intellectual Disability/genetics ,Neurodevelopmental Disorders/genetics ,Receptors AMPA/genetics ,Intellectual Disability ,mental disorders ,Humans ,Infant ,Neurodevelopmental Disorders ,Receptors, AMPA ,GRIA2 ,Preschool ,Ion channel in the nervous system, Developmental disorders, Synaptic development, NG sequencing ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics ,glutamatergic synaptic transmission ,[SCCO.NEUR]Cognitive science/Neuroscience ,[SCCO.NEUR] Cognitive science/Neuroscience ,NG sequencing ,Synaptic development ,Ion channel in the nervous system ,Next-generation sequencing ,lcsh:Q - Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission., Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca2+ transport and AMPAR currents.”
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- 2019
12. Collaborative outcomes study on health and functioning during infection times (COH-FIT): Insights on modifiable and non-modifiable risk and protective factors for wellbeing and mental health during the COVID-19 pandemic from multivariable and network analyses.
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Solmi M, Thompson T, Cortese S, Estradé A, Agorastos A, Radua J, Dragioti E, Vancampfort D, Thygesen LC, Aschauer H, Schlögelhofer M, Aschauer E, Schneeberger A, Huber CG, Hasler G, Conus P, Cuénod KQD, von Känel R, Arrondo G, Fusar-Poli P, Gorwood P, Llorca PM, Krebs MO, Scanferla E, Kishimoto T, Rabbani G, Skonieczna-Żydecka K, Brambilla P, Favaro A, Takamiya A, Zoccante L, Colizzi M, Bourgin J, Kamiński K, Moghadasin M, Seedat S, Matthews E, Wells J, Vassilopoulou E, Gadelha A, Su KP, Kwon JS, Kim M, Lee TY, Papsuev O, Manková D, Boscutti A, Gerunda C, Saccon D, Righi E, Monaco F, Croatto G, Cereda G, Demurtas J, Brondino N, Veronese N, Enrico P, Politi P, Ciappolino V, Pfennig A, Bechdolf A, Meyer-Lindenberg A, Kahl KG, Domschke K, Bauer M, Koutsouleris N, Winter S, Borgwardt S, Bitter I, Balazs J, Czobor P, Unoka Z, Mavridis D, Tsamakis K, Bozikas VP, Tunvirachaisakul C, Maes M, Rungnirundorn T, Supasitthumrong T, Haque A, Brunoni AR, Costardi CG, Schuch FB, Polanczyk G, Luiz JM, Fonseca L, Aparicio LV, Valvassori SS, Nordentoft M, Vendsborg P, Hoffmann SH, Sehli J, Sartorius N, Heuss S, Guinart D, Hamilton J, Kane J, Rubio J, Sand M, Koyanagi A, Solanes A, Andreu-Bernabeu A, Cáceres ASJ, Arango C, Díaz-Caneja CM, Hidalgo-Mazzei D, Vieta E, Gonzalez-Peñas J, Fortea L, Parellada M, Fullana MA, Verdolini N, Andrlíková E, Janků K, Millan MJ, Honciuc M, Moniuszko-Malinowska A, Łoniewski I, Samochowiec J, Kiszkiel Ł, Marlicz M, Sowa P, Marlicz W, Spies G, Stubbs B, Firth J, Sullivan S, Darcin AE, Aksu H, Dilbaz N, Noyan O, Kitazawa M, Kurokawa S, Tazawa Y, Anselmi A, Cracco C, Machado AI, Estrade N, De Leo D, Curtis J, Berk M, Carvalho AF, Ward P, Teasdale S, Rosenbaum S, Marx W, Horodnic AV, Oprea L, Alexinschi O, Ifteni P, Turliuc S, Ciuhodaru T, Bolos A, Matei V, Nieman DH, Sommer I, van Os J, van Amelsvoort T, Sun CF, Guu TW, Jiao C, Zhang J, Fan J, Zou L, Yu X, Chi X, de Timary P, van Winkel R, Ng B, Peña de León E, Arellano R, Roman R, Sanchez T, Movina L, Morgado P, Brissos S, Aizberg O, Mosina A, Krinitski D, Mugisha J, Sadeghi-Bahmani D, Sheybani F, Sadeghi M, Hadi S, Brand S, Errazuriz A, Crossley N, Ristic DI, López-Jaramillo C, Efthymiou D, Kuttichira P, Kallivayalil RA, Javed A, Afridi MI, James B, Seb-Akahomen OJ, Fiedorowicz J, Daskalakis J, Yatham LN, Yang L, Okasha T, Dahdouh A, Tiihonen J, Shin JI, Lee J, Mhalla A, Gaha L, Brahim T, Altynbekov K, Negay N, Nurmagambetova S, Jamei YA, Weiser M, and Correll CU
- Abstract
There is no multi-country/multi-language study testing a-priori multivariable associations between non-modifiable/modifiable factors and validated wellbeing/multidimensional mental health outcomes before/during the COVID-19 pandemic. Moreover, studies during COVID-19 pandemic generally do not report on representative/weighted non-probability samples. The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) is a multi-country/multi-language survey conducting multivariable/LASSO-regularized regression models and network analyses to identify modifiable/non-modifiable factors associated with wellbeing (WHO-5)/composite psychopathology (P-score) change. It enrolled general population-representative/weighted-non-probability samples (26/04/2020-19/06/2022). Participants included 121,066 adults (age=42±15.9 years, females=64 %, representative sample=29 %) WHO-5/P-score worsened (SMD=0.53/SMD=0.74), especially initially during the pandemic. We identified 15 modifiable/nine non-modifiable risk and 13 modifiable/three non-modifiable protective factors for WHO-5, 16 modifiable/11 non-modifiable risk and 10 modifiable/six non-modifiable protective factors for P-score. The 12 shared risk/protective factors with highest centrality (network-analysis) were, for non-modifiable factors, country income, ethnicity, age, gender, education, mental disorder history, COVID-19-related restrictions, urbanicity, physical disorder history, household room numbers and green space, and socioeconomic status. For modifiable factors, we identified medications, learning, internet, pet-ownership, working and religion as coping strategies, plus pre-pandemic levels of stress, fear, TV, social media or reading time, and COVID-19 information. In multivariable models, for WHO-5, additional non-modifiable factors with |B|>1 were income loss, COVID-19 deaths. For modifiable factors we identified pre-pandemic levels of social functioning, hobbies, frustration and loneliness, and social interactions as coping strategy. For P-scores, additional non-modifiable/modifiable factors were income loss, pre-pandemic infection fear, and social interactions as coping strategy. COH-FIT identified vulnerable sub-populations and actionable individual/environmental factors to protect well-being/mental health during crisis times. Results inform public health policies, and clinical practice., Competing Interests: Conflict of interest Conflict of interest statements of all authors are detailed in eTable 12., (Copyright © 2024. Published by Elsevier B.V.)
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- 2024
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13. Global and risk-group stratified well-being and mental health during the COVID-19 pandemic in adults: Results from the international COH-FIT Study.
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Solmi M, Thompson T, Estradé A, Agorastos A, Radua J, Cortese S, Dragioti E, Vancampfort D, Thygesen LC, Aschauer H, Schlögelhofer M, Aschauer E, Schneeberger A, Huber CG, Hasler G, Conus P, Cuénod KQD, von Känel R, Arrondo G, Fusar-Poli P, Gorwood P, Llorca PM, Krebs MO, Scanferla E, Kishimoto T, Rabbani G, Skonieczna-Żydecka K, Brambilla P, Favaro A, Takamiya A, Zoccante L, Colizzi M, Bourgin J, Kamiński K, Moghadasin M, Seedat S, Matthews E, Wells J, Vassilopoulou E, Gadelha A, Su KP, Kwon JS, Kim M, Lee TY, Papsuev O, Manková D, Boscutti A, Gerunda C, Saccon D, Righi E, Monaco F, Croatto G, Cereda G, Demurtas J, Brondino N, Veronese N, Enrico P, Politi P, Ciappolino V, Pfennig A, Bechdolf A, Meyer-Lindenberg A, Kahl KG, Domschke K, Bauer M, Koutsouleris N, Winter S, Borgwardt S, Bitter I, Balazs J, Czobor P, Unoka Z, Mavridis D, Tsamakis K, Bozikas VP, Tunvirachaisakul C, Maes M, Rungnirundorn T, Supasitthumrong T, Haque A, Brunoni AR, Costardi CG, Schuch FB, Polanczyk G, Luiz JM, Fonseca L, Aparicio LV, Valvassori SS, Nordentoft M, Vendsborg P, Hoffmann SH, Sehli J, Sartorius N, Heuss S, Guinart D, Hamilton J, Kane J, Rubio J, Sand M, Koyanagi A, Solanes A, Andreu-Bernabeu A, Cáceres ASJ, Arango C, Díaz-Caneja CM, Hidalgo-Mazzei D, Vieta E, Gonzalez-Peñas J, Fortea L, Parellada M, Fullana MA, Verdolini N, Andrlíková E, Janků K, Millan MJ, Honciuc M, Moniuszko-Malinowska A, Łoniewski I, Samochowiec J, Kiszkiel Ł, Marlicz M, Sowa P, Marlicz W, Spies G, Stubbs B, Firth J, Sullivan S, Darcin AE, Aksu H, Dilbaz N, Noyan O, Kitazawa M, Kurokawa S, Tazawa Y, Anselmi A, Cracco C, Machado AI, Estrade N, De Leo D, Curtis J, Berk M, Carvalho AF, Ward P, Teasdale S, Rosenbaum S, Marx W, Horodnic AV, Oprea L, Alexinschi O, Ifteni P, Turliuc S, Ciuhodaru T, Bolos A, Matei V, Nieman DH, Sommer I, van Os J, van Amelsvoort T, Sun CF, Guu TW, Jiao C, Zhang J, Fan J, Zou L, Yu X, Chi X, de Timary P, van Winkel R, Ng B, Peña de León E, Arellano R, Roman R, Sanchez T, Movina L, Morgado P, Brissos S, Aizberg O, Mosina A, Krinitski D, Mugisha J, Sadeghi-Bahmani D, Sheybani F, Sadeghi M, Hadi S, Brand S, Errazuriz A, Crossley N, Ristic DI, López-Jaramillo C, Efthymiou D, Kuttichira P, Kallivayalil RA, Javed A, Afridi MI, James B, Seb-Akahomen OJ, Fiedorowicz J, Daskalakis J, Yatham LN, Yang L, Okasha T, Dahdouh A, Tiihonen J, Shin JI, Lee J, Mhalla A, Gaha L, Brahim T, Altynbekov K, Negay N, Nurmagambetova S, Jamei YA, Weiser M, and Correll CU
- Abstract
International studies measuring wellbeing/multidimensional mental health before/ during the COVID-19 pandemic, including representative samples for >2 years, identifying risk groups and coping strategies are lacking. COH-FIT is an online, international, anonymous survey measuring changes in well-being (WHO-5) and a composite psychopathology P-score, and their associations with COVID-19 deaths/restrictions, 12 a-priori defined risk individual/cumulative factors, and coping strategies during COVID-19 pandemic (26/04/2020-26/06/2022) in 30 languages (representative, weighted non-representative, adults). T-test, χ
2 , penalized cubic splines, linear regression, correlation analyses were conducted. Analyzing 121,066/142,364 initiated surveys, WHO-5/P-score worsened intra-pandemic by 11.1±21.1/13.2±17.9 points (effect size d=0.50/0.60) (comparable results in representative/weighted non-probability samples). Persons with WHO-5 scores indicative of depression screening (<50, 13% to 32%) and major depression (<29, 3% to 12%) significantly increased. WHO-5 worsened from those with mental disorders, female sex, COVID-19-related loss, low-income country location, physical disorders, healthcare worker occupations, large city location, COVID-19 infection, unemployment, first-generation immigration, to age=18-29 with a cumulative effect. Similar findings emerged for P-score. Changes were significantly but minimally related to COVID-19 deaths, returning to near-pre-pandemic values after >2 years. The most subjectively effective coping strategies were exercise and walking, internet use, social contacts. Identified risk groups, coping strategies and outcome trajectories can inform global public health strategies., Competing Interests: Declaration of competing interest Conflict of interest statements of all authors are detailed in eTable 8., (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)- Published
- 2024
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14. Validation of the Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) questionnaire for adults.
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Solmi M, Thompson T, Estradé A, Agorastos A, Radua J, Cortese S, Dragioti E, Leisch F, Vancampfort D, Thygesen LC, Aschauer H, Schlögelhofer M, Aschauer E, Schneeberger A, Huber CG, Hasler G, Conus P, Do Cuénod KQ, von Känel R, Arrondo G, Fusar-Poli P, Gorwood P, Llorca PM, Krebs MO, Scanferla E, Kishimoto T, Rabbani G, Skonieczna-Żydecka K, Brambilla P, Favaro A, Takamiya A, Zoccante L, Colizzi M, Bourgin J, Kamiński K, Moghadasin M, Seedat S, Matthews E, Wells J, Vassilopoulou E, Gadelha A, Su KP, Kwon JS, Kim M, Lee TY, Papsuev O, Manková D, Boscutti A, Gerunda C, Saccon D, Righi E, Monaco F, Croatto G, Cereda G, Demurtas J, Brondino N, Veronese N, Enrico P, Politi P, Ciappolino V, Pfennig A, Bechdolf A, Meyer-Lindenberg A, Kahl KG, Domschke K, Bauer M, Koutsouleris N, Winter S, Borgwardt S, Bitter I, Balazs J, Czobor P, Unoka Z, Mavridis D, Tsamakis K, Bozikas VP, Tunvirachaisakul C, Maes M, Rungnirundorn T, Supasitthumrong T, Haque A, Brunoni AR, Costardi CG, Schuch FB, Polanczyk G, Luiz JM, Fonseca L, Aparicio LV, Valvassori SS, Nordentoft M, Vendsborg P, Hoffmann SH, Sehli J, Sartorius N, Heuss S, Guinart D, Hamilton J, Kane J, Rubio J, Sand M, Koyanagi A, Solanes A, Andreu-Bernabeu A, Cáceres ASJ, Arango C, Díaz-Caneja CM, Hidalgo-Mazzei D, Vieta E, Gonzalez-Peñas J, Fortea L, Parellada M, Fullana MA, Verdolini N, Andrlíková E, Janků K, Millan MJ, Honciuc M, Moniuszko-Malinowska A, Łoniewski I, Samochowiec J, Kiszkiel Ł, Marlicz M, Sowa P, Marlicz W, Spies G, Stubbs B, Firth J, Sullivan S, Darcin AE, Aksu H, Dilbaz N, Noyan O, Kitazawa M, Kurokawa S, Tazawa Y, Anselmi A, Cracco C, Machado AI, Estrade N, De Leo D, Curtis J, Berk M, Ward P, Teasdale S, Rosenbaum S, Marx W, Horodnic AV, Oprea L, Alexinschi O, Ifteni P, Turliuc S, Ciuhodaru T, Bolos A, Matei V, Nieman DH, Sommer I, van Os J, van Amelsvoort T, Sun CF, Guu TW, Jiao C, Zhang J, Fan J, Zou L, Yu X, Chi X, de Timary P, van Winkel R, Ng B, Pena E, Arellano R, Roman R, Sanchez T, Movina L, Morgado P, Brissos S, Aizberg O, Mosina A, Krinitski D, Mugisha J, Sadeghi-Bahmani D, Sheybani F, Sadeghi M, Hadi S, Brand S, Errazuriz A, Crossley N, Ristic DI, López-Jaramillo C, Efthymiou D, Kuttichira P, Kallivayalil RA, Javed A, Afridi MI, James B, Seb-Akahomen OJ, Fiedorowicz J, Carvalho AF, Daskalakis J, Yatham LN, Yang L, Okasha T, Dahdouh A, Gerdle B, Tiihonen J, Shin JI, Lee J, Mhalla A, Gaha L, Brahim T, Altynbekov K, Negay N, Nurmagambetova S, Jamei YA, Weiser M, and Correll CU
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- Humans, Adult, Reproducibility of Results, Surveys and Questionnaires, Outcome Assessment, Health Care, Factor Analysis, Statistical, Psychometrics, Pandemics, COVID-19
- Abstract
Background: The Collaborative Outcome study on Health and Functioning during Infection Times (COH-FIT; www.coh-fit.com) is an anonymous and global online survey measuring health and functioning during the COVID-19 pandemic. The aim of this study was to test concurrently the validity of COH-FIT items and the internal validity of the co-primary outcome, a composite psychopathology "P-score"., Methods: The COH-FIT survey has been translated into 30 languages (two blind forward-translations, consensus, one independent English back-translation, final harmonization). To measure mental health, 1-4 items ("COH-FIT items") were extracted from validated questionnaires (e.g. Patient Health Questionnaire 9). COH-FIT items measured anxiety, depressive, post-traumatic, obsessive-compulsive, bipolar and psychotic symptoms, as well as stress, sleep and concentration. COH-FIT Items which correlated r ≥ 0.5 with validated companion questionnaires, were initially retained. A P-score factor structure was then identified from these items using exploratory factor analysis (EFA) and confirmatory factor analyses (CFA) on data split into training and validation sets. Consistency of results across languages, gender and age was assessed., Results: From >150,000 adult responses by May 6th, 2022, a subset of 22,456 completed both COH-FIT items and validated questionnaires. Concurrent validity was consistently demonstrated across different languages for COH-FIT items. CFA confirmed EFA results of five first-order factors (anxiety, depression, post-traumatic, psychotic, psychophysiologic symptoms) and revealed a single second-order factor P-score, with high internal reliability (ω = 0.95). Factor structure was consistent across age and sex., Conclusions: COH-FIT is a valid instrument to globally measure mental health during infection times. The P-score is a valid measure of multidimensional mental health., Competing Interests: Conflict of interest Conflict of interest statements of all authors are detailed in Supplementary Table 7., (Copyright © 2022 Elsevier B.V. All rights reserved.)
- Published
- 2023
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15. Genetic variants associated with longitudinal changes in brain structure across the lifespan.
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Brouwer RM, Klein M, Grasby KL, Schnack HG, Jahanshad N, Teeuw J, Thomopoulos SI, Sprooten E, Franz CE, Gogtay N, Kremen WS, Panizzon MS, Olde Loohuis LM, Whelan CD, Aghajani M, Alloza C, Alnæs D, Artiges E, Ayesa-Arriola R, Barker GJ, Bastin ME, Blok E, Bøen E, Breukelaar IA, Bright JK, Buimer EEL, Bülow R, Cannon DM, Ciufolini S, Crossley NA, Damatac CG, Dazzan P, de Mol CL, de Zwarte SMC, Desrivières S, Díaz-Caneja CM, Doan NT, Dohm K, Fröhner JH, Goltermann J, Grigis A, Grotegerd D, Han LKM, Harris MA, Hartman CA, Heany SJ, Heindel W, Heslenfeld DJ, Hohmann S, Ittermann B, Jansen PR, Janssen J, Jia T, Jiang J, Jockwitz C, Karali T, Keeser D, Koevoets MGJC, Lenroot RK, Malchow B, Mandl RCW, Medel V, Meinert S, Morgan CA, Mühleisen TW, Nabulsi L, Opel N, de la Foz VO, Overs BJ, Paillère Martinot ML, Redlich R, Marques TR, Repple J, Roberts G, Roshchupkin GV, Setiaman N, Shumskaya E, Stein F, Sudre G, Takahashi S, Thalamuthu A, Tordesillas-Gutiérrez D, van der Lugt A, van Haren NEM, Wardlaw JM, Wen W, Westeneng HJ, Wittfeld K, Zhu AH, Zugman A, Armstrong NJ, Bonfiglio G, Bralten J, Dalvie S, Davies G, Di Forti M, Ding L, Donohoe G, Forstner AJ, Gonzalez-Peñas J, Guimaraes JPOFT, Homuth G, Hottenga JJ, Knol MJ, Kwok JBJ, Le Hellard S, Mather KA, Milaneschi Y, Morris DW, Nöthen MM, Papiol S, Rietschel M, Santoro ML, Steen VM, Stein JL, Streit F, Tankard RM, Teumer A, van 't Ent D, van der Meer D, van Eijk KR, Vassos E, Vázquez-Bourgon J, Witt SH, Adams HHH, Agartz I, Ames D, Amunts K, Andreassen OA, Arango C, Banaschewski T, Baune BT, Belangero SI, Bokde ALW, Boomsma DI, Bressan RA, Brodaty H, Buitelaar JK, Cahn W, Caspers S, Cichon S, Crespo-Facorro B, Cox SR, Dannlowski U, Elvsåshagen T, Espeseth T, Falkai PG, Fisher SE, Flor H, Fullerton JM, Garavan H, Gowland PA, Grabe HJ, Hahn T, Heinz A, Hillegers M, Hoare J, Hoekstra PJ, Ikram MA, Jackowski AP, Jansen A, Jönsson EG, Kahn RS, Kircher T, Korgaonkar MS, Krug A, Lemaitre H, Malt UF, Martinot JL, McDonald C, Mitchell PB, Muetzel RL, Murray RM, Nees F, Nenadić I, Oosterlaan J, Ophoff RA, Pan PM, Penninx BWJH, Poustka L, Sachdev PS, Salum GA, Schofield PR, Schumann G, Shaw P, Sim K, Smolka MN, Stein DJ, Trollor JN, van den Berg LH, Veldink JH, Walter H, Westlye LT, Whelan R, White T, Wright MJ, Medland SE, Franke B, Thompson PM, and Hulshoff Pol HE
- Subjects
- Aging genetics, Brain, Humans, Magnetic Resonance Imaging, Genome-Wide Association Study, Longevity genetics
- Abstract
Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases. In this study, we identified common genetic variants that affect rates of brain growth or atrophy in what is, to our knowledge, the first genome-wide association meta-analysis of changes in brain morphology across the lifespan. Longitudinal magnetic resonance imaging data from 15,640 individuals were used to compute rates of change for 15 brain structures. The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes. We demonstrate global genetic overlap with depression, schizophrenia, cognitive functioning, insomnia, height, body mass index and smoking. Gene set findings implicate both early brain development and neurodegenerative processes in the rates of brain changes. Identifying variants involved in structural brain changes may help to determine biological pathways underlying optimal and dysfunctional brain development and aging., (© 2022. The Author(s), under exclusive licence to Springer Nature America, Inc.)
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- 2022
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16. The collaborative outcomes study on health and functioning during infection times in adults (COH-FIT-Adults): Design and methods of an international online survey targeting physical and mental health effects of the COVID-19 pandemic.
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Solmi M, Estradé A, Thompson T, Agorastos A, Radua J, Cortese S, Dragioti E, Leisch F, Vancampfort D, Thygesen LC, Aschauer H, Schloegelhofer M, Akimova E, Schneeberger A, Huber CG, Hasler G, Conus P, Cuénod KQD, von Känel R, Arrondo G, Fusar-Poli P, Gorwood P, Llorca PM, Krebs MO, Scanferla E, Kishimoto T, Rabbani G, Skonieczna-Żydecka K, Brambilla P, Favaro A, Takamiya A, Zoccante L, Colizzi M, Bourgin J, Kamiński K, Moghadasin M, Seedat S, Matthews E, Wells J, Vassilopoulou E, Gadelha A, Su KP, Kwon JS, Kim M, Lee TY, Papsuev O, Manková D, Boscutti A, Gerunda C, Saccon D, Righi E, Monaco F, Croatto G, Cereda G, Demurtas J, Brondino N, Veronese N, Enrico P, Politi P, Ciappolino V, Pfennig A, Bechdolf A, Meyer-Lindenberg A, Kahl KG, Domschke K, Bauer M, Koutsouleris N, Winter S, Borgwardt S, Bitter I, Balazs J, Czobor P, Unoka Z, Mavridis D, Tsamakis K, Bozikas VP, Tunvirachaisakul C, Maes M, Rungnirundorn T, Supasitthumrong T, Haque A, Brunoni AR, Costardi CG, Schuch FB, Polanczyk G, Luiz JM, Fonseca L, Aparicio LV, Valvassori SS, Nordentoft M, Vendsborg P, Hoffmann SH, Sehli J, Sartorius N, Heuss S, Guinart D, Hamilton J, Kane J, Rubio J, Sand M, Koyanagi A, Solanes A, Andreu-Bernabeu A, Cáceres ASJ, Arango C, Díaz-Caneja CM, Hidalgo-Mazzei D, Vieta E, Gonzalez-Peñas J, Fortea L, Parellada M, Fullana MA, Verdolini N, Fárková E, Janků K, Millan M, Honciuc M, Moniuszko-Malinowska A, Łoniewski I, Samochowiec J, Kiszkiel Ł, Marlicz M, Sowa P, Marlicz W, Spies G, Stubbs B, Firth J, Sullivan S, Darcin AE, Aksu H, Dilbaz N, Noyan O, Kitazawa M, Kurokawa S, Tazawa Y, Anselmi A, Cracco C, Machado AI, Estrade N, De Leo D, Curtis J, Berk M, Ward P, Teasdale S, Rosenbaum S, Marx W, Horodnic AV, Oprea L, Alexinschi O, Ifteni P, Turliuc S, Ciuhodaru T, Bolos A, Matei V, Nieman DH, Sommer I, van Os J, van Amelsvoort T, Sun CF, Guu TW, Jiao C, Zhang J, Fan J, Zou L, Yu X, Chi X, de Timary P, van Winke R, Ng B, Pena E, Arellano R, Roman R, Sanchez T, Movina L, Morgado P, Brissos S, Aizberg O, Mosina A, Krinitski D, Mugisha J, Sadeghi-Bahmani D, Sadeghi M, Hadi S, Brand S, Errazuriz A, Crossley N, Ristic DI, López-Jaramillo C, Efthymiou D, Kuttichira P, Kallivayalil RA, Javed A, Afridi MI, James B, Seb-Akahomen OJ, Fiedorowicz J, Carvalho AF, Daskalakis J, Yatham LN, Yang L, Okasha T, Dahdouh A, Gerdle B, Tiihonen J, Shin JI, Lee J, Mhalla A, Gaha L, Brahim T, Altynbekov K, Negay N, Nurmagambetova S, Jamei YA, Weiser M, and Correll CU
- Subjects
- Adolescent, Adult, Anxiety, Child, Cross-Sectional Studies, Depression, Humans, Mental Health, Outcome Assessment, Health Care, SARS-CoV-2, COVID-19, Pandemics
- Abstract
Background: . High-quality comprehensive data on short-/long-term physical/mental health effects of the COVID-19 pandemic are needed., Methods: . The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT) is an international, multi-language (n=30) project involving >230 investigators from 49 countries/territories/regions, endorsed by national/international professional associations. COH-FIT is a multi-wave, on-line anonymous, cross-sectional survey [wave 1: 04/2020 until the end of the pandemic, 12 months waves 2/3 starting 6/24 months threreafter] for adults, adolescents (14-17), and children (6-13), utilizing non-probability/snowball and representative sampling. COH-FIT aims to identify non-modifiable/modifiable risk factors/treatment targets to inform prevention/intervention programs to improve social/health outcomes in the general population/vulnerable subgrous during/after COVID-19. In adults, co-primary outcomes are change from pre-COVID-19 to intra-COVID-19 in well-being (WHO-5) and a composite psychopathology P-Score. Key secondary outcomes are a P-extended score, global mental and physical health. Secondary outcomes include health-service utilization/functioning, treatment adherence, functioning, symptoms/behaviors/emotions, substance use, violence, among others., Results: . Starting 04/26/2020, up to 14/07/2021 >151,000 people from 155 countries/territories/regions and six continents have participated. Representative samples of ≥1,000 adults have been collected in 15 countries. Overall, 43.0% had prior physical disorders, 16.3% had prior mental disorders, 26.5% were health care workers, 8.2% were aged ≥65 years, 19.3% were exposed to someone infected with COVID-19, 76.1% had been in quarantine, and 2.1% had been COVID 19-positive., Limitations: . Cross-sectional survey, preponderance of non-representative participants., Conclusions: . Results from COH-FIT will comprehensively quantify the impact of COVID-19, seeking to identify high-risk groups in need for acute and long-term intervention, and inform evidence-based health policies/strategies during this/future pandemics., (Copyright © 2021. Published by Elsevier B.V.)
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- 2022
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17. Physical and mental health impact of COVID-19 on children, adolescents, and their families: The Collaborative Outcomes study on Health and Functioning during Infection Times - Children and Adolescents (COH-FIT-C&A).
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Solmi M, Estradé A, Thompson T, Agorastos A, Radua J, Cortese S, Dragioti E, Leisch F, Vancampfort D, Thygesen LC, Aschauer H, Schloegelhofer M, Akimova E, Schneeberger A, Huber CG, Hasler G, Conus P, Cuénod KQD, von Känel R, Arrondo G, Fusar-Poli P, Gorwood P, Llorca PM, Krebs MO, Scanferla E, Kishimoto T, Rabbani G, Skonieczna-Żydecka K, Brambilla P, Favaro A, Takamiya A, Zoccante L, Colizzi M, Bourgin J, Kamiński K, Moghadasin M, Seedat S, Matthews E, Wells J, Vassilopoulou E, Gadelha A, Su KP, Kwon JS, Kim M, Lee TY, Papsuev O, Manková D, Boscutti A, Gerunda C, Saccon D, Righi E, Monaco F, Croatto G, Cereda G, Demurtas J, Brondino N, Veronese N, Enrico P, Politi P, Ciappolino V, Pfennig A, Bechdolf A, Meyer-Lindenberg A, Kahl KG, Domschke K, Bauer M, Koutsouleris N, Winter S, Borgwardt S, Bitter I, Balazs J, Czobor P, Unoka Z, Mavridis D, Tsamakis K, Bozikas VP, Tunvirachaisakul C, Maes M, Rungnirundorn T, Supasitthumrong T, Haque A, Brunoni AR, Costardi CG, Schuch FB, Polanczyk G, Luiz JM, Fonseca L, Aparicio LV, Valvassori SS, Nordentoft M, Vendsborg P, Hoffmann SH, Sehli J, Sartorius N, Heuss S, Guinart D, Hamilton J, Kane J, Rubio J, Sand M, Koyanagi A, Solanes A, Andreu-Bernabeu A, Cáceres ASJ, Arango C, Díaz-Caneja CM, Hidalgo-Mazzei D, Vieta E, Gonzalez-Peñas J, Fortea L, Parellada M, Fullana MA, Verdolini N, Fárková E, Janků K, Millan M, Honciuc M, Moniuszko-Malinowska A, Łoniewski I, Samochowiec J, Kiszkiel Ł, Marlicz M, Sowa P, Marlicz W, Spies G, Stubbs B, Firth J, Sullivan S, Darcin AE, Aksu H, Dilbaz N, Noyan O, Kitazawa M, Kurokawa S, Tazawa Y, Anselmi A, Cracco C, Machado AI, Estrade N, De Leo D, Curtis J, Berk M, Ward P, Teasdale S, Rosenbaum S, Marx W, Horodnic AV, Oprea L, Alexinschi O, Ifteni P, Turliuc S, Ciuhodaru T, Bolos A, Matei V, Nieman DH, Sommer I, van Os J, van Amelsvoort T, Sun CF, Guu TW, Jiao C, Zhang J, Fan J, Zou L, Yu X, Chi X, de Timary P, van Winke R, Ng B, Pena E, Arellano R, Roman R, Sanchez T, Movina L, Morgado P, Brissos S, Aizberg O, Mosina A, Krinitski D, Mugisha J, Sadeghi-Bahmani D, Sadeghi M, Hadi S, Brand S, Errazuriz A, Crossley N, Ristic DI, López-Jaramillo C, Efthymiou D, Kuttichira P, Kallivayalil RA, Javed A, Afridi MI, James B, Seb-Akahomen OJ, Fiedorowicz J, Carvalho AF, Daskalakis J, Yatham LN, Yang L, Okasha T, Dahdouh A, Gerdle B, Tiihonen J, Shin JI, Lee J, Mhalla A, Gaha L, Brahim T, Altynbekov K, Negay N, Nurmagambetova S, Jamei YA, Weiser M, and Correll CU
- Subjects
- Adolescent, Adult, Child, Cross-Sectional Studies, Health Promotion, Humans, Mental Health, Pandemics, Quality of Life, SARS-CoV-2, COVID-19
- Abstract
Background: The COVID-19 pandemic has altered daily routines and family functioning, led to closing schools, and dramatically limited social interactions worldwide. Measuring its impact on mental health of vulnerable children and adolescents is crucial., Methods: The Collaborative Outcomes study on Health and Functioning during Infection Times (COH-FIT - www.coh-fit.com) is an on-line anonymous survey, available in 30 languages, involving >230 investigators from 49 countries supported by national/international professional associations. COH-FIT has thee waves (until the pandemic is declared over by the WHO, and 6-18 months plus 24-36 months after its end). In addition to adults, COH-FIT also includes adolescents (age 14-17 years), and children (age 6-13 years), recruited via non-probability/snowball and representative sampling and assessed via self-rating and parental rating. Non-modifiable/modifiable risk factors/treatment targets to inform prevention/intervention programs to promote health and prevent mental and physical illness in children and adolescents will be generated by COH-FIT. Co-primary outcomes are changes in well-being (WHO-5) and a composite psychopathology P-Score. Multiple behavioral, family, coping strategy and service utilization factors are also assessed, including functioning and quality of life., Results: Up to June 2021, over 13,000 children and adolescents from 59 countries have participated in the COH-FIT project, with representative samples from eleven countries., Limitations: Cross-sectional and anonymous design., Conclusions: Evidence generated by COH-FIT will provide an international estimate of the COVID-19 effect on children's, adolescents' and families', mental and physical health, well-being, functioning and quality of life, informing the formulation of present and future evidence-based interventions and policies to minimize adverse effects of the present and future pandemics on youth., (Copyright © 2021 Elsevier B.V. All rights reserved.)
- Published
- 2022
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18. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
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Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, and Houlden H
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- Adolescent, Adult, Brain diagnostic imaging, Child, Child, Preschool, Cohort Studies, Female, Heterozygote, Humans, Infant, Loss of Function Mutation, Magnetic Resonance Imaging, Male, Neurodevelopmental Disorders diagnostic imaging, Young Adult, Intellectual Disability genetics, Neurodevelopmental Disorders genetics, Receptors, AMPA genetics
- Abstract
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca
2+ -impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.- Published
- 2019
- Full Text
- View/download PDF
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