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8. Transcendental Meditation in Veterans and First Responders With PTSD

Author

Columbia University, Northwell Health, Brown University, University of California, San Diego, University of Southern California, VA Palo Alto Health Care System, New York State Psychiatric Institute, Icahn School of Medicine at Mount Sinai, and Yuval Y Neria, Professor of Medical Psychology

Published
2024

12. Using mHealth to Optimize Pharmacotherapy Regimens

Author

Northwell Health, Early Treatment Program at Lenox Hill, The Institute for Family Health Center for Counseling at Walton, New York State Psychiatric Institute, Washington Heights Community Service, BestSelf Behavioral Health, National Institute of Mental Health (NIMH), and Scott Stroup, Professor of Psychiatry

Published
2024

13. Predictors of Lorcaserin-Induced Weight Loss

Author

New York State Psychiatric Institute, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), and Sharon Wardlaw, Professor of Medicine

Published
2024

16. On Track Chile For First Episode Psychosis

Author

Universidad de O'Higgins, Columbia University, Washington University School of Medicine, New York University, Research Foundation for Mental Hygiene, Inc., New York State Psychiatric Institute, and Rubén Alvarado, Associate Professor

Published
2023

26. A D1 Agonist For Working Memory

Author

New York State Psychiatric Institute, National Institute of Mental Health (NIMH), and Antonia New, Professor of Psychiatry and Director of Medical Student Education

Published
2018

34. Multicenter Vitamin E Trial in Aging Persons With Down Syndrome

Author

National Institute on Aging (NIA), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Center for Complementary and Integrative Health (NCCIH), New York State Psychiatric Institute, University of California, San Diego, Columbia University, Bronx Veterans Medical Research Foundation, Inc, and Arthur Dalton, Deputy Director

Published
2012

36. Interactive effects of subanesthetic ketamine and subhypnotic lorazepam in humans

Author

Upjohn Center for Clinical Pharmacology, University of Michigan Medical Center, Ann Arbor, MI 48109-0504, USA, US, Department of Psychiatry, Yale University School of Medicine, Connecticut, USA, US, Psychiatry Service (116-A), VA Medical Center, West Haven, CT 06516, USA, US, New York State Psychiatric Institute, 722 W. 168th Street, New York, NY 10032, USA, US, Ann Arbor, Abi-Saab, Danielle, Krystal, John H., Bremner, J. Douglas, Charney, Dennis S., Karper, Laurence P., Bennett, Alexandre, Stetson, Philip L., Morrissey, Kristen, Suckow, Raymond F., D???souza, D. Cyril, Bowers Jr., M.B., Abi-Dargham, Anissa, Heninger, George R., Upjohn Center for Clinical Pharmacology, University of Michigan Medical Center, Ann Arbor, MI 48109-0504, USA, US, Department of Psychiatry, Yale University School of Medicine, Connecticut, USA, US, Psychiatry Service (116-A), VA Medical Center, West Haven, CT 06516, USA, US, New York State Psychiatric Institute, 722 W. 168th Street, New York, NY 10032, USA, US, Ann Arbor, Abi-Saab, Danielle, Krystal, John H., Bremner, J. Douglas, Charney, Dennis S., Karper, Laurence P., Bennett, Alexandre, Stetson, Philip L., Morrissey, Kristen, Suckow, Raymond F., D???souza, D. Cyril, Bowers Jr., M.B., Abi-Dargham, Anissa, and Heninger, George R.

Abstract

???Ketamine is an N -methyl- D -aspartate (NMDA) receptor antagonist with psychotogenic and dissociative effects in healthy humans. These cognitive and perceptual effects in humans are reportedly reduced by benzodiazepine premedication. This study assessed the interactive effects of a ketamine (IV bolus of 0.26???mg/kg followed by an infusion of 0.65???mg/kg per hour) and lorazepam 2???mg., PO, in humans. Twenty-three healthy subjects completed 4 test days involving the oral administration of lorazepam or matched placebo 2???h prior to the IV infusion of ketamine or placebo. Ketamine: 1) produced behaviors similar to the positive and negative symptoms of schizophrenia as assessed by the Brief Psychiatric Rating Scale (BPRS); 2) evoked perceptual alterations as measured by the Clinician-Administered Dissociative States Scale (CADSS); 3) impaired performance on the Wisconsin Card Sorting Test (WCST) and other tests sensitive to frontal cortical impairment; and 4) had amnestic effects. Lorazepam produced attention impairments, concrete proverb interpretations, and recall impairments. Lorazepam reduced ketamine-associated emotional distress and there was a non-significant trend for it to decrease perceptual alterations produced by ketamine. However, it failed to reduce many cognitive and behavioral effects of ketamine, including psychosis. Further, lorazepam exacerbated the sedative, attention-impairing, and amnestic effects of ketamine. There was no evidence of pharmacokinetic interaction between these medications. These data suggest that subhypnotic lorazepam and ketamine show a spectrum of interactive effects, ranging from antagonism to potentiation.

Published
2006

37. Clinical calibration of DSM-IV diagnoses in the World Mental Health (WMH) version of the World Health Organization (WHO) Composite International Diagnostic Interview (WMH-CIDI)

Author

Institute for Social Research, University of Michigan, Ann Arbor MI, USA, Department of Health Care Policy, Harvard Medical School, Boston MA, USA ; Department of Health Care Policy, Harvard Medical School, 180 Longwood Avenue, Boston MA, USA 02115., Department of Health Care Policy, Harvard Medical School, Boston MA, USA, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, New Brunswick NJ, USA, New York State Psychiatric Institute, New York City NY, USA, Kessler, Ronald C., Abelson, Jamie M., Demler, Olga, Escobar, Javier I., Gibbon, Miriam, Guyer, Margaret E., Howes, Mary J., Jin, Robert, Vega, William A., Walters, Ellen E., Wang, Philip, Zaslavsky, Alan, Zheng, Hui, Institute for Social Research, University of Michigan, Ann Arbor MI, USA, Department of Health Care Policy, Harvard Medical School, Boston MA, USA ; Department of Health Care Policy, Harvard Medical School, 180 Longwood Avenue, Boston MA, USA 02115., Department of Health Care Policy, Harvard Medical School, Boston MA, USA, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, New Brunswick NJ, USA, New York State Psychiatric Institute, New York City NY, USA, Kessler, Ronald C., Abelson, Jamie M., Demler, Olga, Escobar, Javier I., Gibbon, Miriam, Guyer, Margaret E., Howes, Mary J., Jin, Robert, Vega, William A., Walters, Ellen E., Wang, Philip, Zaslavsky, Alan, and Zheng, Hui

Published
2006

38. Silver Award: Providing Recovery-Oriented Early Intervention Services to Youths Experiencing First-Episode Psychosis.

Author

OnTrackNY/Washington Heights Community Service, New York State Psychiatric Institute, New York

Subjects
MENTAL health services, PSYCHOSES in adolescence, EARLY medical intervention, LIFE expectancy, MEDICAL decision making, AWARDS, THERAPEUTICS
Abstract

The article offers information on 2016–2017 Silver Psychiatric Services Achievement Award presented to OnTrackNY program at the Washington Heights Community Service for its commitment to providing recovery oriented early intervention services to youths with first-episode psychosis. It mentions role of psychotic disorders in causing reduced life expectancy and high rates of disability. It also states the basis of treatment decisions on shared decision making.

Published
2017
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39. Psychiatric Institute archived websites

Author

This finding aid was compiled by staff of the New York State Archives., New York State Psychiatric Institute, This finding aid was compiled by staff of the New York State Archives., and New York State Psychiatric Institute

Abstract

This series consists of archival copies of the publicly accessible websites of the New York State Psychiatric Institute, which is part of the New York State Office of Mental Health.

42. Attaining and Maintaining Wellness in Obsessive-compulsive Disorder

Author

National Institute of Mental Health (NIMH) and Helen Blair Simpson, Professor of Clinical Psychiatry, College of Physicians and Surgeons, Columbia University Director of the Anxiety Disorders Clinic and OCD Research Program, New York State Psychiatric Institute

Published
2019

43. Dopamine D2 Receptors Regulate the Anatomical and Functional Balance of Basal Ganglia Circuitry

Author

Maxime Cazorla, Susanne E. Ahmari, Holly Moore, Muhammad Omar Chohan, Christoph Kellendonk, Mariya Shegda, Fernanda Delmondes de Carvalho, Nao Chuhma, Stephen Rayport, Department of Psychiatry [New York, NY, USA], Columbia University [New York], Department of Pharmacology [New York, NY, USA], Department of Molecular Therapeutics [New York, NY, USA], Columbia University [New York]-New York State Psychiatric Institute, Translational Neuroscience Program [Pittsburgh, PA, USA] (Department of Psychiatry), University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Department of Integrative Neuroscience [New York, NY, USA], New York State Psychiatric Institute, This work was supported by the National Institute of Mental Health (MH086404 to C.K., H.M., M.O.C., N.C., and S.R. and R01MH093672 to C.K. and M.C.). Behavior alanalyses were performed with support from the Rodent Neurobehavioral Analysis Core at the New York State Psychiatric Institute., and Cazorla, Maxim

Subjects
[SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, General Neuroscience, Neuroscience(all), [SCCO.NEUR] Cognitive science/Neuroscience, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.NEU.PC] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, Stimulation, Optogenetics, Biology, Indirect pathway of movement, Globus pallidus, nervous system, Dopamine receptor D2, Basal ganglia, Haloperidol, medicine, Direct pathway of movement, Neuroscience, medicine.drug
Abstract

International audience; Structural plasticity in the adult brain is essential for adaptive behavior. We have found a remarkable anatomical plasticity in the basal ganglia of adult mice that is regulated by dopamine D2 receptors (D2Rs). By modulating neuronal excitability, striatal D2Rs bidirectionally control the density of direct pathway collaterals in the globus pallidus that bridge the direct pathway with the functionally opposing indirect pathway. An increase in bridging collaterals is associated with enhanced inhibition of pallidal neurons in vivo and disrupted locomotor activation after optogenetic stimulation of the direct pathway. Chronic blockade with haloperidol, an antipsychotic medication used to treat schizophrenia, decreases the extent of bridging collaterals and rescues the locomotor imbalance. These findings identify a role for bridging collaterals in regulating the concerted balance of striatal output and may have important implications for understanding schizophrenia, a disease involving excessive activation of striatal D2Rs that is treated with D2R blockers.

Published
2014
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44. Suicide trends in the early months of the COVID-19 pandemic: an interrupted time-series analysis of preliminary data from 21 countries

Author

Vikas Arya, Kairi Kõlves, Anna Baran, Barbara Schneider, Marcos DelPozo-Banos, Vsevolod Rozanov, Christiane Schlang, Michiko Ueda, Keith Hawton, Petrana Brečić, Jane Pirkis, Sarah M. Fortune, Pablo Analuisa-Aguilar, Annette Erlangsen, Gil Zalsman, Murad M. Khan, Chengan Du, Merete Nordentoft, Sangsoo Shin, Natalia Semenova, Ann John, Giulio Castelpietra, Ella Arensman, Joseph Kanter, David Colchester, Marko Ćurković, Paul L. Plener, Guilherme Borges, Christa Rados, Jeremy S. Faust, Mark Sinyor, Louis Appleby, David Gunnell, Jason Bantjes, Rebekka Gerstner, Steve Platt, Ellenor Mittendorfer-Rutz, Thomas Niederkrotenthaler, Lakshmi Vijayakumar, Andreas Reif, Rory C. O'Connor, Kedar Marahatta, Madelyn S. Gould, Ellen Townsend, Eric D. Caine, Stuart Leske, Herwig Oberlerchner, Jeremy Dwyer, Matthew J Spittal, Olivia J. Kirtley, Shu-Sen Chang, Andrew Garrett, David Crompton, Renske Gilissen, Christine Reif-Leonhard, Roger T. Webb, Navneet Kapur, José Manoel Bertolote, Duleeka Knipe, Emma Nielsen, Manjula Weerasinghe, Michael R. Phillips, N. G. Neznanov, Daniel Radeloff, Melissa Pearson, Devin George, Eberhard A. Deisenhammer, Ping Qin, Georg Psota, Pirkis, J., John, A., Shin, S., DelPozo-Banos, M., Arya, V., Analuisa-Aguilar, P., Appleby, L., Arensman, E., Bantjes, J., Baran, A., Bertolote, J. M., Borges, G., Brecic, P., Caine, E., Castelpietra, G., Chang, S. -S., Colchester, D., Crompton, D., Curkovic, M., Deisenhammer, E. A., Du, C., Dwyer, J., Erlangsen, A., Faust, J. S., Fortune, S., Garrett, A., George, D., Gerstner, R., Gilissen, R., Gould, M., Hawton, K., Kanter, J., Kapur, N., Khan, M., Kirtley, O. J., Knipe, D., Kolves, K., Leske, S., Marahatta, K., Mittendorfer-Rutz, E., Neznanov, N., Niederkrotenthaler, T., Nielsen, E., Nordentoft, M., Oberlerchner, H., O'Connor, R. C., Pearson, M., Phillips, M. R., Platt, S., Plener, P. L., Psota, G., Qin, P., Radeloff, D., Rados, C., Reif, A., Reif-Leonhard, C., Rozanov, V., Schlang, C., Schneider, B., Semenova, N., Sinyor, M., Townsend, E., Ueda, M., Vijayakumar, L., Webb, R. T., Weerasinghe, M., Zalsman, G., Gunnell, D., Spittal, M. J., University of Melbourne, Swansea University Medical School, Western Sydney University, Ministry of Public Health, University of Manchester, University College Cork, Griffith University, Stellenbosch University, Working Group on Prevention of Suicide and Depression at Public Health Council, Blekinge Hospital, Universidade Estadual Paulista (UNESP), Instituto Nacional de Psiquiatría Ramon de la Fuente Muñiz, University of Rochester Medical Center, Outpatient and Inpatient Care Service, University of Udine, National Taiwan University, Thames Valley Local Criminal Justice Board, Medical University of Innsbruck, Yale School of Medicine, Coroners Court of Victoria, Danish Research Institute for Suicide Prevention, Johns Hopkins School of Public Health, Australian National University, Brigham and Women's Hospital Department of Emergency Medicine, University of Auckland, Magistrates Court of Tasmania (Coronial Division), Louisiana Office of Public Health, Undersecretary of Health Services, Research Department, Columbia University Medical Center/New York State Psychiatric Institute, University of Oxford, Louisiana Department of Health, Greater Manchester Mental Health NHS Foundation Trust, Aga Khan University, Center for Contextual Psychiatry, University of Bristol, University of Peradeniya, Country Office for Nepal, Karolinska Institutet, Pavlov First Saint Petersburg State Medical University, Medical University of Vienna, University of Nottingham, Mental Health Centre Copenhagen, Klinikum Klagenfurt am Wörthersee, University of Glasgow, University of Edinburgh, Shanghai Jiao Tong University School of Medicine, Columbia University, University of Ulm, Psychosocial Services in Vienna, University of Oslo, University Hospital Leipzig, Landeskrankenhaus Villach, University Hospital Frankfurt, Saint Petersburg State University, Health Authority Frankfurt am Main, LVR-Klinik Köln, Goethe-University, Bekhterev National Medical Research Center of Psychiatry and Neurology, University of Toronto, Sunnybrook Health Sciences Centre, Faculty of Political Science and Economics, Voluntary Health Services, Rajarata University of Sri Lanka, Tel Aviv University and Geha Mental Health Center, and University of Zagreb

Subjects
Developed Countrie, Context (language use), Global Health, Interrupted Time Series Analysis, 03 medical and health sciences, 0302 clinical medicine, Models, Pandemic, Global health, Humans, 030212 general & internal medicine, Sociology, Biological Psychiatry, Cause of death, Psychiatry, Government, Science & Technology, Models, Statistical, Developed Countries, COVID-19, Covid19, Statistical, Mental health, Suicide, 030227 psychiatry, suicide, Psychiatry and Mental health, Life Sciences & Biomedicine, Developed country, Human, Demography
Abstract

Made available in DSpace on 2022-04-28T19:40:08Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-07-01 Background: The COVID-19 pandemic is having profound mental health consequences for many people. Concerns have been expressed that, at their most extreme, these consequences could manifest as increased suicide rates. We aimed to assess the early effect of the COVID-19 pandemic on suicide rates around the world. Methods: We sourced real-time suicide data from countries or areas within countries through a systematic internet search and recourse to our networks and the published literature. Between Sept 1 and Nov 1, 2020, we searched the official websites of these countries’ ministries of health, police agencies, and government-run statistics agencies or equivalents, using the translated search terms “suicide” and “cause of death”, before broadening the search in an attempt to identify data through other public sources. Data were included from a given country or area if they came from an official government source and were available at a monthly level from at least Jan 1, 2019, to July 31, 2020. Our internet searches were restricted to countries with more than 3 million residents for pragmatic reasons, but we relaxed this rule for countries identified through the literature and our networks. Areas within countries could also be included with populations of less than 3 million. We used an interrupted time-series analysis to model the trend in monthly suicides before COVID-19 (from at least Jan 1, 2019, to March 31, 2020) in each country or area within a country, comparing the expected number of suicides derived from the model with the observed number of suicides in the early months of the pandemic (from April 1 to July 31, 2020, in the primary analysis). Findings: We sourced data from 21 countries (16 high-income and five upper-middle-income countries), including whole-country data in ten countries and data for various areas in 11 countries). Rate ratios (RRs) and 95% CIs based on the observed versus expected numbers of suicides showed no evidence of a significant increase in risk of suicide since the pandemic began in any country or area. There was statistical evidence of a decrease in suicide compared with the expected number in 12 countries or areas: New South Wales, Australia (RR 0·81 [95% CI 0·72–0·91]); Alberta, Canada (0·80 [0·68–0·93]); British Columbia, Canada (0·76 [0·66–0·87]); Chile (0·85 [0·78–0·94]); Leipzig, Germany (0·49 [0·32–0·74]); Japan (0·94 [0·91–0·96]); New Zealand (0·79 [0·68–0·91]); South Korea (0·94 [0·92–0·97]); California, USA (0·90 [0·85–0·95]); Illinois (Cook County), USA (0·79 [0·67–0·93]); Texas (four counties), USA (0·82 [0·68–0·98]); and Ecuador (0·74 [0·67–0·82]). Interpretation: This is the first study to examine suicides occurring in the context of the COVID-19 pandemic in multiple countries. In high-income and upper-middle-income countries, suicide numbers have remained largely unchanged or declined in the early months of the pandemic compared with the expected levels based on the pre-pandemic period. We need to remain vigilant and be poised to respond if the situation changes as the longer-term mental health and economic effects of the pandemic unfold. Funding: None. Centre for Mental Health Melbourne School of Population and Global Health University of Melbourne Swansea University Medical School Translational Health Research Institute Western Sydney University Ministry of Public Health Department of Health Promotion National Confidential Inquiry into Suicide and Safety in Mental Health University of Manchester Centre for Mental Health and Safety and National Institute for Health Research Patient Safety Translational Research Centre University of Manchester School of Public Health National Suicide Research Foundation University College Cork Australian Institute for Suicide Research and Prevention School of Applied Psychology Griffith University Institute for Life Course Health Research Department of Global Health Stellenbosch University Working Group on Prevention of Suicide and Depression at Public Health Council Department of Psychiatry Blekinge Hospital Botucatu Medical School Universidade Estadual Paulista Instituto Nacional de Psiquiatría Ramon de la Fuente Muñiz University of Rochester Medical Center Region Friuli Venezia Giulia Central Health Directorate Outpatient and Inpatient Care Service Department of Medicine University of Udine Institute of Health Behaviors and Community Sciences College of Public Health National Taiwan University Thames Valley Local Criminal Justice Board Department of Psychiatry Psychotherapy and Psychosomatics Medical University of Innsbruck Center for Outcomes Research and Evaluation Yale School of Medicine Coroners Court of Victoria Danish Research Institute for Suicide Prevention Department of Mental Health Johns Hopkins School of Public Health Centre for Mental Health Research Australian National University Brigham and Women's Hospital Department of Emergency Medicine School of Population Health University of Auckland Magistrates Court of Tasmania (Coronial Division) Bureau of Vital Records and Statistics Louisiana Office of Public Health Ministry of Public Health Undersecretary of Health Services Research Department, 113 Suicide Prevention Departments of Psychiatry and Epidemiology Columbia University Medical Center/New York State Psychiatric Institute Centre for Suicide Research University of Oxford Louisiana Department of Health Greater Manchester Mental Health NHS Foundation Trust Department of Psychiatry Aga Khan University KU Leuven Center for Contextual Psychiatry Population Health Sciences Bristol Medical School University of Bristol South Asian Clinical Toxicology Research Collaboration Faculty of Medicine University of Peradeniya World Health Organization Country Office for Nepal Karolinska Institutet Bekhterev National Medical Research Center of Psychiatry and Neurology Pavlov First Saint Petersburg State Medical University Unit Suicide Research and Mental Health Promotion Department of Social and Preventive Medicine Center for Public Health Medical University of Vienna Department of Child and Adolescent Psychiatry Medical University of Vienna School of Psychology University of Nottingham Self-Harm Research Group School of Psychology University of Nottingham Mental Health Centre Copenhagen Department of Psychiatry and Psychotherapy Klinikum Klagenfurt am Wörthersee Suicidal Behaviour Research Lab University of Glasgow Preventing Deaths from Poisoning Research Group University of Edinburgh Usher Institute University of Edinburgh Suicide Research and Prevention Center Shanghai Mental Health Center Shanghai Jiao Tong University School of Medicine Departments of Psychiatry and Epidemiology Columbia University Department of Child and Adolescent Psychiatry and Psychotherapy University of Ulm Psychosocial Services in Vienna National Centre for Suicide Research and Prevention Institute of Clinical Medicine University of Oslo Department of Child and Adolescent Psychiatry Psychotherapy and Psychosomatics University Hospital Leipzig Department of Psychiatry and Psychotherapeutic Medicine Landeskrankenhaus Villach Department of Psychiatry Psychosomatic Medicine and Psychotherapy University Hospital Frankfurt Department of Borderline Disorders and Psychotherapy Bekhterev National Medical Research Center of Psychiatry and Neurology Saint Petersburg State University Department of Psychiatry Health Authority Frankfurt am Main Department of Addictive Disorders Psychiatry and Psychotherapy LVR-Klinik Köln Department of Psychiatry Psychosomatic Medicine and Psychotherapy Goethe-University Organizational-Scientific Department Bekhterev National Medical Research Center of Psychiatry and Neurology Department of Psychiatry University of Toronto Department of Psychiatry Sunnybrook Health Sciences Centre Waseda University Faculty of Political Science and Economics Sneha—Suicide Prevention Centre Voluntary Health Services Department of Community Medicine Faculty of Medicine and Allied Sciences Rajarata University of Sri Lanka Department of Psychiatry Sackler School of Medicine Tel Aviv University and Geha Mental Health Center Division of Molecular Imaging and Neuropathology New York State Psychiatric Institute and Department of Psychiatry Columbia University National Institute of Health Research Biomedical Research Centre University Hospitals Bristol and Weston NHS Foundation Trust University of Bristol Department for Psychiatry University Psychiatric Hospital Vrapče School of Medicine University of Zagreb Botucatu Medical School Universidade Estadual Paulista

Published
2021
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45. The clinical course of comorbid substance use disorder and attention deficit/hyperactivity disorder : protocol and clinical characteristics of the INCAS study

Author

Christoffer Brynte, Myriam Aeschlimann, Csaba Barta, Alex Hendikus Abraham Begeman, Amanda Bäcker, Cleo Lina Crunelle, Constanza Daigre, Laura De Fuentes-Merillas, Zsolt Demetrovics, Geert Dom, Lara Grau López, Romain Icick, Brian Johnson, Peter Joostens, Máté Kapitány-Fövény, Emily Karsinti, Falk Kiefer, Maija Konstenius, Frances R. Levin, Mathias Luderer, Wiebren Markus, Frieda Matthys, Franz Moggi, Raul Felipe Palma-Alvarez, Maria Paraskevopoulou, J. Antoni Ramos-Quiroga, Arnt Schellekens, Leila M. Soravia, Norman Therribout, Anil Thomas, Geurt van de Glind, Michiel Willem van Kernebeek, Sabine Vollstädt-Klein, Florence Vorspan, Wim van den Brink, Johan Franck, Brussels University Consultation Center, Clinical sciences, Psychiatry, Faculty of Medicine and Pharmacy, Neuroprotection & Neuromodulation, Mental Health and Wellbeing research group, Karolinska Institutet [Stockholm], University of Bern, Semmelweis University [Budapest], De Hoop [Dordrecht, The Netherlands] (De Hoop ggz), Vrije Universiteit Brussel (VUB), Vall d'Hebron University Hospital [Barcelona], Vall d’Hebron Research Institute (VHIR), Centro de Investigación Biomédica en Red Salud Mental [Madrid] (CIBER-SAM), Universitat Autònoma de Barcelona (UAB), Nijmegen Institute for Scientist-Practitioners in Addiction [Nijmegen, the Netherlands] (NISPA ), Eötvös Loránd University (ELTE), University of Gibraltar [Gibraltar] (UG), University of Antwerp (UA), Université Paris Cité (UPCité), SUNY Upstate Medical University, State University of New York (SUNY), Alexianen Zorggroep Tienen [Tienen, Belgium] (AZT), Clinique, Psychanalyse, Développement (CliPsyD), Université Paris Nanterre (UPN), Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Heidelberg University, New York State Psychiatric Institute, Goethe-University Frankfurt am Main, Radboudumc Nijmegen [The Netherlands], Icahn School of Medicine at Mount Sinai [New York] (MSSM), New York University School of Medicine (NYU Grossman School of Medicine), University of Applied Sciences [Utrecht] (HU), Amsterdam UMC - Amsterdam University Medical Center, Icick, Romain, Adult Psychiatry, and ANS - Compulsivity, Impulsivity & Attention

Subjects
Adult, Male, Substance-Related Disorders, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Stress-related disorders Donders Center for Medical Neuroscience [Radboudumc 13], 610 Medicine & health, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Experimental Psychopathology and Treatment, Cohort Studies, Humans, Multicenter Studies as Topic, ADHD, Psychology, Prospective Studies, SUD, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Analgesics, Opioid, Observational Studies as Topic, comorbidity, Psychiatry and Mental health, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Attention Deficit Disorder with Hyperactivity, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Female, Human medicine
Abstract

Background Substance use disorders (SUD) often co-occur with attention deficit hyperactivity disorder (ADHD). Although the short-term effects of some specific interventions have been investigated in randomized clinical trials, little is known about the long-term clinical course of treatment-seeking SUD patients with comorbid ADHD. Aims This paper presents the protocol and baseline clinical characteristics of the International Naturalistic Cohort Study of ADHD and SUD (INCAS) designed and conducted by the International Collaboration on ADHD and Substance Abuse (ICASA) foundation. The overall aim of INCAS is to investigate the treatment modalities provided to treatment-seeking SUD patients with comorbid ADHD, and to describe the clinical course and identify predictors for treatment outcomes. This ongoing study employs a multicentre observational prospective cohort design. Treatment-seeking adult SUD patients with comorbid ADHD are recruited, at 12 study sites in nine different countries. During the follow-up period of nine months, data is collected through patient files, interviews, and self-rating scales, targeting a broad range of cognitive and clinical symptom domains, at baseline, four weeks, three months and nine months. Results A clinically representative sample of 578 patients (137 females, 441 males) was enrolled during the recruitment period (June 2017-May 2021). At baseline, the sample had a mean age (SD) of 36.7 years (11.0); 47.5% were inpatients and 52.5% outpatients; The most prevalent SUDs were with alcohol 54.2%, stimulants 43.6%, cannabis 33.1%, and opioids 14.5%. Patients reported previous treatments for SUD in 71.1% and for ADHD in 56.9%. Other comorbid mental disorders were present in 61.4% of the sample: major depression 31.5%, post-traumatic stress disorder 12.1%, borderline personality disorder 10.2%. Conclusions The first baseline results of this international cohort study speak to its feasibility. Data show that many SUD patients with comorbid ADHD had never received treatment for their ADHD prior to enrolment in the study. Future reports on this study will identify the course and potential predictors for successful pharmaceutical and psychological treatment outcomes. Trial registration ISRCTN15998989 20/12/2019.

Published
2022
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46. Disrupting D1-NMDA or D2-NMDA receptor heteromerization prevents cocaine's rewarding effects but preserves natural reward processing

Author

Marie-Charlotte Allichon, Ying Zhu, Roman Walle, Vincent Kappes, Andry Andrianarivelo, Naguib Mechawar, Jocelyne Caboche, Jacques Barik, Nicolas Heck, Paula A. Pousinha, Peter Vanhoutte, Véronique De Smedt-Peyrusse, Pierre Trifilieff, Gustavo Turecki, Anna Petitbon, Estefani Saint-Jour, Sebastian P. Fernandez, Vanesa Ortiz, Jonathan A. Javitch, Charlène Joséphine, Alexis-Pierre Bemelmans, Sandrine Betuing, Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Bioinformatique [IBPS] (IBPS-Artbio), Institut de Biologie Paris Seine (IBPS), Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Nutrition et Neurobiologie intégrée (NutriNeuro), Université de Bordeaux (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), New York State Psychiatric Institute, Columbia University [New York], Laboratoire des Maladies Neurodégénératives - UMR 9199 (LMN), Service MIRCEN (MIRCEN), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Douglas Mental Health University Institute [Montréal], McGill University = Université McGill [Montréal, Canada], ANR-16-CE16-0022,SynLip,Impact de la composition lipidique membranaire sur la transmission dopaminergique dépendante du récepteur D2 et la motivation(2016), ANR-18-CE37-0003,DropStress,Cibler les complexes formés par les récepteurs de la dopamine et du glutamate pour atténuer les pathologies liées au stress(2018), Neurosciences Paris Seine (NPS), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA), Centre National de la Recherche Scientifique (CNRS)-Service MIRCEN (MIRCEN), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Polytechnique de Bordeaux (Bordeaux INP), CEA- Saclay (CEA), Centre National de la Recherche Scientifique (CNRS), and FERNANDEZ, SEBASTIAN PABLO

Subjects
media_common.quotation_subject, [SDV]Life Sciences [q-bio], Nucleus accumbens, Biology, 03 medical and health sciences, 0302 clinical medicine, Dopamine, Dopamine receptor D2, mental disorders, medicine, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, media_common, 0303 health sciences, Multidisciplinary, Addiction, Glutamate receptor, SciAdv r-articles, 3. Good health, [SDV] Life Sciences [q-bio], nervous system, Dopamine receptor, Excitatory postsynaptic potential, NMDA receptor, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neuroscience, 030217 neurology & neurosurgery, Research Article, Signal Transduction, medicine.drug
Abstract

Description, D2R-NMDAR receptor heteromers are potential therapeutic targets in drug addiction., Addictive drugs increase dopamine in the nucleus accumbens (NAc), where it persistently shapes excitatory glutamate transmission and hijacks natural reward processing. Here, we provide evidence, from mice to humans, that an underlying mechanism relies on drug-evoked heteromerization of glutamate N-methyl-d-aspartate receptors (NMDAR) with dopamine receptor 1 (D1R) or 2 (D2R). Using temporally controlled inhibition of D1R-NMDAR heteromerization, we unraveled their selective implication in early phases of cocaine-mediated synaptic, morphological, and behavioral responses. In contrast, preventing D2R-NMDAR heteromerization blocked the persistence of these adaptations. Interfering with these heteromers spared natural reward processing. Notably, we established that D2R-NMDAR complexes exist in human samples and showed that, despite a decreased D2R protein expression in the NAc, individuals with psychostimulant use disorder display a higher proportion of D2R forming heteromers with NMDAR. These findings contribute to a better understanding of molecular mechanisms underlying addiction and uncover D2R-NMDAR heteromers as targets with potential therapeutic value.

Published
2021
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47. Non-canonical glutamine transamination sustains efferocytosis by coupling redox buffering to oxidative phosphorylation

Author

Amanda Swain, Alexandre Gallerand, Judith C. Sluimer, François Orange, Erik A.L. Biessen, Alexia Castiglione, Inna Gaisler-Salomon, Stefania Carobbio, Laurent Yvan-Charvet, Rodolphe Guinamard, Thierry Berton, Julie Gall, Johanna Merlin, Stephen Rayport, Alexey Sergushichev, Jean-Charles Martin, Marion I. Stunault, Maxim N. Artyomov, Adélie Dumont, Edward B. Thorp, Marion Ayrault, Emmanuel L. Gautier, Justine Masson, Stoyan Ivanov, Pierre Maechler, Nathalie Vaillant, Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA), FHU OncoAge - Pathologies liées à l’âge [CHU Nice] (OncoAge), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Pharmacologie Moléculaire et Cellulaire [UNIV Côte d'Azur] (UPMC)-Université Côte d'Azur (UCA), ITMO University [Russia], Institut de pharmacologie moléculaire et cellulaire (IPMC), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), The institute of cancer research [London], Université Côte d'Azur (UCA), Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Genève = University of Geneva (UNIGE), The Wellcome Trust Sanger Institute [Cambridge], University of Cambridge [UK] (CAM), Institut du Fer à Moulin (IFM - Inserm U1270 - SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), The New York State Psychiatric Institute (NYSPI), Columbia University [New York], University of Haifa [Haifa], Washington University School of Medicine [Saint Louis, MO], Centre Commun de Microscopie Appliquée [Nice] (CCMA), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht], Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), 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)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Northwestern University [Chicago, Ill. USA], RWTH Aachen University, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases [IHU ICAN], Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Universitätsklinikum RWTH Aachen - University Hospital Aachen [Aachen, Germany] (UKA), Northwestern University Medical School [Chicago], Pathologie, RS: Carim - B07 The vulnerable plaque: makers and markers, and Gautier, Emmanuel

Subjects
EXPRESSION, PROMOTES, Endocrinology, Diabetes and Metabolism, Glutamine, [SDV]Life Sciences [q-bio], Cellular detoxification, Oxidative phosphorylation, METABOLISM, MOUSE, Oxidative Phosphorylation, Apoptotic cell clearance, 03 medical and health sciences, Mice, 0302 clinical medicine, MITOCHONDRIA, Phagocytosis, MESH: Oxidative Phosphorylation, Physiology (medical), Internal Medicine, Macrophage, Animals, MESH: Animals, CELL, Efferocytosis, ddc:612, MESH: Phagocytosis, ELECTRON-TRANSPORT, MESH: Mice, Tissue homeostasis, 030304 developmental biology, Amination, MESH: Amination, 0303 health sciences, MESH: Glutamine, Glutaminolysis, Chemistry, Cell Biology, 3. Good health, Cell biology, [SDV] Life Sciences [q-bio], 030217 neurology & neurosurgery
Abstract

Macrophages rely on tightly integrated metabolic rewiring to clear dying neighboring cells by efferocytosis during homeostasis and disease. Here we reveal that glutaminase-1-mediated glutaminolysis is critical to promote apoptotic cell clearance by macrophages during homeostasis in mice. In addition, impaired macrophage glutaminolysis exacerbates atherosclerosis, a condition during which, efficient apoptotic cell debris clearance is critical to limit disease progression. Glutaminase-1 expression strongly correlates with atherosclerotic plaque necrosis in patients with cardiovascular diseases. High-throughput transcriptional and metabolic profiling reveals that macrophage efferocytic capacity relies on a non-canonical transaminase pathway, independent from the traditional requirement of glutamate dehydrogenase to fuel ɑ-ketoglutarate-dependent immunometabolism. This pathway is necessary to meet the unique requirements of efferocytosis for cellular detoxification and high-energy cytoskeletal rearrangements. Thus, we uncover a role for non-canonical glutamine metabolism for efficient clearance of dying cells and maintenance of tissue homeostasis during health and disease in mouse and humans. Merlin et al. find that non-canonical glutamine transamination is required for macrophage efferocytosis in atherosclerotic plaques by sustaining redox buffering and fueling energy production for cytoskeletal rearrangements.

Published
2021
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48. The nexus between telomere length and lymphocyte count in seniors hospitalized with COVID-19

Author

Carlos Labat, Ezra Susser, Sylvie Gautier, Marie Noelle Ungeheuer, Daniel Levy, Simon Toupance, Christine Perret-Guillaume, Abraham Aviv, Simon Verhulst, Tsung Po Lai, Athanase Benetos, Verhulst lab, Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Pôle Maladies du Vieillissement, Gérontologie et Soins Palliatif [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Rutgers New Jersey Medical School (NJMS), Rutgers University System (Rutgers), Groningen Institute for Evolutionary Life Sciences [Groningen] (GELIFES), University of Groningen [Groningen], Investigation Clinique et d’Accès aux Ressources Biologiques (Plate-forme) - Clinical Investigation and Access to BioResources (ICAReB), Institut Pasteur [Paris] (IP), Framingham Heart Study, Boston University [Boston] (BU)-National Heart, Lung, and Blood Institute [Bethesda] (NHLBI), National Institutes of Health [Bethesda] (NIH), Columbia Mailman School of Public Health, Columbia University [New York], New York State Psychiatric Institute, This study has been supported by the French National Research Agency (ANR), Translationnelle: N°ID RCB: 2014-A00298-39: 2014–2017 and partially supported by the French PIA project 'Lorraine Université d’Excellence ,' reference ANR-15-IDEX-04-LUE, and the Investments for the Future program under grant agreement no. ANR-15-RHU-0004. A.A.’s research is supported by National Institutes of Health grants R01HL134840 and U01AG066529 and Norwegian Institute of Public Health grants 262700 and 262043, ANR-15-IDEX-0004,LUE,Isite LUE(2015), ANR-15-RHUS-0004,FIGHT-HF,Combattre l'insuffisance cardiaque(2015), CHRU-Nancy, Pôle 'Maladies du Vieillissement, Gérontologie et Soins Palliatif, and Institut Pasteur [Paris]

Subjects
Senescence, COVID-19/physiopathology, Aging, Coronavirus disease 2019 (COVID-19), Lymphocyte, T-Lymphocytes, Peripheral blood mononuclear cell, Article, Restriction fragment, Andrology, 03 medical and health sciences, 0302 clinical medicine, Lymphopenia, 80 and over, Medicine, Humans, Viability assay, Lymphocytes, Lymphocyte Count, Telomere Shortening, Cellular Senescence, 030304 developmental biology, Southern blot, Aged, Aged, 80 and over, 0303 health sciences, Lymphopenia/etiology, biology, business.industry, SARS-CoV-2, [SDV.MHEP.GEG]Life Sciences [q-bio]/Human health and pathology/Geriatry and gerontology, SARS-CoV-2/pathogenicity, COVID-19, T-Lymphocytes/immunology, 3. Good health, Telomere, Hospitalization, Ageing, medicine.anatomical_structure, Telomeres, 030220 oncology & carcinogenesis, Telomere Shortening/physiology, biology.protein, Geriatrics and Gerontology, business
Abstract

Background: Lymphopenia due to a plummeting T-cell count is a major feature of severe COVID-19. T-cell proliferation is telomere length (TL)-dependent and TL shortens with age. Older persons are disproportionally affected by severe COVID-19, and we hypothesized that those with short TL have less capacity to mount an adequate T-cell proliferative response to SARS-CoV-2. This hypothesis predicts that among older patients with COVID-19, shorter telomeres of peripheral blood mononuclear cells (PBMCs) will be associated with a lower lymphocyte count. Methods: Our sample comprised 17 COVID-19 and 21 non-COVID-19 patients, aged 87(8) (mean(SD)) and 87 (9) years, respectively. We measured TL by the Telomere Shortest Length Assay, a novel method that measures and tallies the short telomeres directly relevant to telomere-mediated biological processes. The primary analysis quantified TL as the proportion of telomeres shorter than 2 kilobases. For comparison, we also quantified TL by Southern blotting, which measures the mean length of telomeres. Results: Lymphocyte count (109/L) was 0.91 (0.42) in COVID-19 patients and 1.50(0.50) in non-COVID-19 patients (P < 0.001). In COVID-19 patients, but not in non-COVID-19 patients, lymphocyte count was inversely correlated with the proportion of telomeres shorter than 2 kilobases (P = 0.005) and positively correlated with the mean of telomeres measured by TeSLA (P = 0.03). Lymphocyte counts showed no statistically significant correlations with Southern blotting results in COVID-19 or non-COVID-19 patients. Conclusions: These results support the hypothesis that a compromised TL-dependent T-cell proliferative response contributes to lymphopenia and the resulting disproportionate severity of COVID-19 among old adults. We infer that infection with SARS-CoV-2 uncovers the limits of the TL reserves of older persons.

Published
2021
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49. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Author

Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler, Division of Medical Genetics [Seattle], University of Washington [Seattle], Détoxication et réparation tissulaire, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Central South University [Changsha], Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH), Center for Integrative Brain Research, Ambry Genetics [Aliso Viejo, CA, USA], China Agricultural University (CAU), 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), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Kennedy Krieger Institute [Baltimore], Institute of Human Genetics [Erlangen, Allemagne], Universität Leipzig, Yale University [New Haven], Oregon Health and Science University [Portland] (OHSU), McGovern Medical School [Houston, Texas], Indiana University - Purdue University Indianapolis (IUPUI), Indiana University System, Indiana University [South Bend], The University of Texas at San Antonio (UTSA), New York State Psychiatric Institute, Columbia University [New York], Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], CHU Strasbourg, Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Stanford University School of Medicine [CA, USA], Memorial Hermann Heart and Vascular Institute [Houston, TX, USA], University of Central Florida [Orlando] (UCF), Department of Pediatrics [Univ California San Diego] (UC San Diego), School of Medicine [Univ California San Diego] (UC San Diego), University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC)-University of California [San Diego] (UC San Diego), University of California (UC)-University of California (UC), University of Colorado Anschutz [Aurora], Department of Chemistry and Biochemistry [Bern], University of Bern, Columbia University Irving Medical Center (CUIMC), Signal Processing Lab [Boise - Idaho], Boise State University, University Hospitals Case Medical Center (CLEVELAND - UHCMC), University Hospitals Case Medical Center, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Psychology [University North Carolina Wilmington], University of North Carolina [Wilmington] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie et immunologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Unité de génétique médicale et oncogénétique [CHU Amiens Picardie], CHU Amiens-Picardie, Institut d'histoire du temps présent (IHTP), Centre National de la Recherche Scientifique (CNRS), University of Massachusetts Medical School [Worcester] (UMASS), University of Massachusetts System (UMASS), Queen's University [Kingston, Canada], Department of Molecular Genetics [Toronto], University of Toronto, GeneDx [Gaithersburg, MD, USA], Department of Genome Sciences [Seattle] (GS), Department of Pediatrics [Stanford], Stanford Medicine, Stanford University-Stanford University, Stanford School of Medicine [Stanford], Stanford University, University of California (UC), COMSATS Institute of Information Technology [Islamabad] (CIIT), Boston Children's Hospital, University of California [Los Angeles] (UCLA), Radboud University Medical Center [Nijmegen], Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Psychiatry, Seattle University [Seattle], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universität Leipzig [Leipzig], Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Department of Pediatrics [san Diego], UC San Diego School of Medicine, Université Paris Diderot - Paris 7 (UPD7)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and University of California

Subjects
0301 basic medicine, Proband, Male, Adolescent, Autism Spectrum Disorder, autism spectrum disorders, Nerve Tissue Proteins, Neuroimaging, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Neurodevelopmental disorder, ZNF292, Intellectual disability, mental disorders, Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), Exome sequencing, Genetics, Zinc finger, next generation sequencing, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism spectrum disorder, intellectual disability, Neurodevelopmental Disorders, Child, Preschool, next-generation sequencing, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Carrier Proteins, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Abstract

Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS: Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION: De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.

Published
2019
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50. Do DSM-5 substance use disorder criteria differ by user care settings? An item response theory analysis approach

Author

C. Kervran, Marc Auriacombe, Laurence Lalanne, Deborah S. Hasin, Perrine Roux, M. Jauffret-Roustide, F. Serre, Cécile Denis, Dvora Shmulewitz, Sommeil, Addiction et Neuropsychiatrie [Bordeaux] (SANPSY), Université de Bordeaux (UB)-CHU de Bordeaux Pellegrin [Bordeaux]-Centre National de la Recherche Scientifique (CNRS), New York State Psychiatric Institute, Columbia University [New York], University of Pennsylvania, Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CERMES3 - Centre de recherche Médecine, sciences, santé, santé mentale, société (CERMES3 - UMR 8211 / U988 / UM 7), École des hautes études en sciences sociales (EHESS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Neuropsychologie Cognitive et Physiopathologie de la Schizophrénie (NCPS), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Civil de Strasbourg, Columbia University Irving Medical Center (CUIMC), Sommeil, Attention et Neuropsychiatrie [Bordeaux] (SANPSY), University of Pennsylvania [Philadelphia], École des hautes études en sciences sociales (EHESS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Civil de Strasbourg-Université de Strasbourg (UNISTRA), and CCSD, Accord Elsevier

Subjects
Substance-Related Disorders, 030508 substance abuse, Medicine (miscellaneous), Craving, Toxicology, Substance use disorder, Structural equation modeling, DSM-5, Drug Users, 03 medical and health sciences, 0302 clinical medicine, Cocaine, Item response theory, Medicine, Humans, 030212 general & internal medicine, Harm reduction setting, Harm reduction, biology, business.industry, Patient seeking treatment, biology.organism_classification, medicine.disease, Differential item functioning, [SDV.TOX] Life Sciences [q-bio]/Toxicology, Substance abuse, Diagnostic and Statistical Manual of Mental Disorders, Psychiatry and Mental health, Clinical Psychology, [SDV.TOX]Life Sciences [q-bio]/Toxicology, Cannabis, medicine.symptom, 0305 other medical science, business, Clinical psychology
Abstract

Aim To examine differences in the psychometric characteristics of diagnostic criteria for Substance Use Disorders (SUD) between substance users in harm reduction settings (HR) and substance users seeking treatment (Tx). Methods Differential Item and Test Functioning (DIF & DTF) analysis were performed to examine differences in the difficulty of endorsement and in discrimination of the 11 diagnostic criteria and to test if the criteria set as a whole (the “test”) functioned differently by care settings (Tx vs. HR) for alcohol, cocaine, cannabis, opiates and tobacco. To test uniform and nonuniform DIF, multiple indicator multiple cause (MIMIC) structural equation models were used. Results Regardless of the substance, the DSM-5 criteria “craving”, “large amount”, “time spent”, “tolerance” and “activities given up” had similar functioning by care settings. Little evidence for DIF was found for other criteria. The criteria set as a whole did not function differently by care settings for alcohol, cocaine and tobacco. At the same trait severity, compared to HR, the Tx subgroup had a greater number of endorsed criteria for cannabis and a smaller number of endorsed criteria for opioids. Conclusion The unidimensionality of the 11 DSM-5 criteria and applicability of all criteria and diagnosis was confirmed in this large sample of problematic substance users. While the majority of the criteria related to loss of control of substance use, functioned well in both care settings, the criteria related to consequences of substance use had several differential functioning.

Published
2021
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