Handbook of Spectrum Disorders, Volume I

Michael S. Ritsner Editor

Handbook of Schizophrenia Spectrum Disorders, Volume I

Conceptual Issues and Neurobiological Advances

123 Editor Michael S. Ritsner Technion – Israel Institute of Technology Rappaport Faculty of Medicine Haifa Israel [email protected]

ISBN 978-94-007-0836-5 e-ISBN 978-94-007-0837-2 DOI 10.1007/978-94-007-0837-2 Springer Dordrecht Heidelberg London New York

Library of Congress Control Number: 2011925373

© Springer Science+Business Media B.V. 2011 No part of this work may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording or otherwise, without written permission from the Publisher, with the exception of any material supplied specifically for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work.

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Springer is part of Springer Science+Business Media (www.springer.com) Foreword

Schizophrenia Spectrum Disorders: Insights from Views Across 100 years

Schizophrenia spectrum and related disorders such as schizoaffective and mood dis- orders, schizophreniform disorders, brief psychotic disorders, delusional and shared psychotic disorders, and personality (i.e., schizotypal, paranoid, and schizoid per- sonality) disorders are the most debilitating forms of mental illness, worldwide. There are 89,377 citations (including 10,760 reviews) related to “schizophrenia” and 2,118 (including 296 reviews) related to “schizophrenia spectrum” in PubMed (accessed on August 12, 2010). The classification of these disorders, in particular, of schizophrenia, schizoaf- fective and mood disorders (referred to as functional psychoses), has been debated for decades, and its validity remains controversial. The limited success of genetic studies of functional psyhoses has raised questions concerning the definition of genetically relevant phenotypes. Many researchers around the world have investigated schizophrenia spectrum, and related disorders from the perspectives of diagnostics, early detection of

v vi Foreword psychotic disorders, , neuroscience, prognosis, and treatment. Therefore, these fields have considerably expanded with new findings that were obtained through clinical and longitudinal observations and neuropsychological, neuro- physiological, , neuroanatomical, neurochemical, molecular genetic, genomic and proteomic analyses, which have generated a necessity for syntheses across the functional psychoses. The present three-volume handbook is a collection that continues to achieve my goal of providing a comprehensive up-to-date state of the art overview of the lit- erature that addresses the challenges facing clinical and biological psychiatry. This series follows four recently published books:

• Quality of Life Impairment in Schizophrenia, Mood and Anxiety Disorders. New Perspectives on Research and Treatment. Ritsner, Michael S.; Awad, A. George (Eds.), Springer, 2007, 388p. • Neuroactive Steroids in Brain Functions, and Mental Health. Novel Strategies for Research and Treatment. Ritsner, Michael S.; Weizman A. (Eds.), Springer Science+Business Media, B.V., 2008. 559p. • The Handbook of Neuropsychiatric Biomarkers, , and Genes. Volumes I–IV. Ritsner, Michael S. (Ed.), Springer Science+Business Media, B.V., 2009. Volume I: Neuropsychological Endophenotypes and Biomarkers. 231pp. Volume II: Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers. 244pp. Volume III: Metabolic and Peripheral Biomarkers. 231pp. Volume IV: Molecular Genetic and Genomic Markers. 232pp. • Brain Protection in Schizophrenia, Mood and Cognitive Disorders. Ritsner, Michael S. (Ed.), Springer Science+Business Media, B.V., 2010. 663p.

This handbook offers a broad synthesis of current knowledge about schizophrenia spectrum and related disorders. It is based on methodological pluralism regard- ing psychiatric nosology and raises many controversial issues, and limitations of categorical nosology of functional psychoses covering the ongoing debate on key conceptual issues that may be relevant for the development of DSM-V and ICD-11. Reflecting the copious amount of new information provided, the handbook has been divided into three volumes. Volume I contains 20 chapters and serves as an introduction and overview of theoretical issue, and neurobiological advances.The chapters in this volume review the schizophrenia construct, diagnosis and classi- fication of the schizophrenia spectrum disorders, and schizotypy concept; present proof-of-concept Multidimensional Continuum Model of functional psychoses and evolutionary models of autism; new findings regarding neurodevelopmental, neurodegenerative, and neurochemical abnormalities; genetic and environmental influences; changes in gene expression; neurotransmitter activity; brain imaging and morphological abnormalities in subjects with schizophrenia and other psychotic Foreword vii disorders, methamphetamine psychosis as a model for biomarker discovery in schizophrenia and advances in proteomics. Our knowledge of the genetics of schizophrenia and its borderlands is heavily indebted to the research and writings of Professor Irving Gottesman. The chapter that summarizes his contributions in that historical context is an invaluable contribution to the handbook. Volume II contains 19 chapters focusing on phenotypic and endophenotypic presentations of schizophrenia spectrum and related disorders. The authors dis- cuss , stress, social anxiety, neuropsychological, neurocognitive and neurophysiological findings, and neuroethological approaches, quality of life deficits, and risk for cancer morbidity and mortality. The authors also review advances and challenges in mapping the prodromal phases of psychosis, in the prediction and early detection of first-episode psychosis, early- and late-onset schizophrenia, the longitudinal course of these disorders, as well as the interface of acute transient psychoses, the association of metacognition with neurocogni- tion and function in schizophrenia, neurophysiology of cognitive dysfunction in schizophrenia, schizo-obsessive states, and risk for cancer morbidity and mortality in schizophrenia spectrum disorders. Volume III includes 18 chapters that provide a wealth of information regarding treatment approaches, comorbidity, recovery, and outcomes of schizophrenia and spectrum disorders; in particular, recovery-based treatment approaches, antipsy- chotic and neuroprotective-based treatment; prevention and early intervention in at-risk states for developing psychosis, , cognitive remediation, cognitive behavior therapy; and interventions targeting social and vocational dys- function in schizophrenic spectrum disorders. Furthermore, therapeutic approaches to schizophrenia with medical illness, comorbid substance abuse, suicidality, impli- cations for treatment and community support, the relationship between religios- ity/spirituality and schizophrenia, and the ethical ramifications of biomarker use for mood disorders are also reviewed and discussed. Since many of the contributors to this handbook are internationally known experts, they not only provide up-to-date state of the art overviews, but also clarify some of the ongoing controversies and future challenges and propose new insights for future research. The contents of these volumes have been carefully planned, organized, and edited. Of course, despite all the assistance provided by contributors, I alone remain responsible for the content of this handbook including any errors or omissions which may remain. Similar to other publications contributed to by diverse scholars from diverse orientations and academic backgrounds, differences in approaches and opinions, as well as some overlap, are unavoidable. This handbook is designed for use by a broad spectrum of readers including psychiatrists, neurologists, neuroscientists, endocrinologists, pharmacologists, psy- chologists, general practitioners, geriatricians, graduate students, and health care providers in the fields of mental health. It is hoped that this book will also be a useful resource for the teaching of psychiatry, neurology, and policy makers in the fields of mental health. I would like to gratefully acknowledge all contributors from 16 countries (Australia, Brazil, Canada, China, Czech Republic, Denmark, Germany, Ireland, viii Foreword

Italy, Israel, Japan, Spain, Switzerland, Ukraine, United Kingdom, and USA) for their excellent cooperation. I wish to thank Professor William T. Carpenter,dis- tinguished psychiatrist, who was willing to write the afterword for this handbook. I also wish to take this opportunity to thank the wonderful staff in my clinical department as well as in other departments in Shaar-Menashe Mental Health Center (Director – Dr. Alexander Grinshpoon) for their commitment, support, and cooper- ation. I would like to thank my wonderful and generous friends, particularly Boris Altshuler, Anatoly Polischuck, and Stella Lulinsky. They always took the time to listen, even when I was just complaining. The support they have given me over the years is the greatest gift anyone has ever given me. Finally, I thank Springer Science Business Media B.V. for the goodwill and publication of this book, particularly Mr. Peter Butler, and Dr. Martijn Roelandse, publishing editors, who did their utmost to promote this project and provided valuable assistance that made the book possible. I sincerely hope that this handbook will further knowledge in the complex field of psychiatric disorders.

Haifa, Israel Michael S. Ritsner March, 2011 Contents

Foreword Schizophrenia Spectrum Disorders: Insights from Views Across 100 years ...... v Michael S. Ritsner 1 The Schizophrenia Construct After 100 Years of Challenges ... 1 Michael S. Ritsner and Irving I. Gottesman 2 Diagnosis and Classification of the Schizophrenia Spectrum Disorders ...... 45 Daniel Mamah and Deanna M. Barch 3 Toward a Multidimensional Continuum Model of Functional Psychoses for Research Purposes ...... 85 Michael S. Ritsner 4 Irving Gottesman and the Schizophrenia Spectrum ...... 115 Aksel Bertelsen 5 Schizotypy: Reflections on the Bridge to Schizophrenia and Obstacles on the Road Ahead to Etiology and Pathogenesis ...... 127 Mark F. Lenzenweger 6 Autistic Spectrum Disorders and Schizophrenia ...... 143 Yael Dvir, Vishal Madaan, Lauren Yakutis, Jean A. Frazier, and Daniel R. Wilson 7 One Hundred Years of Insanity: Genomic, Psychological, and Evolutionary Models of Autism in Relation to Schizophrenia ...... 163 Bernard J. Crespi 8 Quantifying the Dynamics of Central Systemic Degeneration in Schizophrenia ...... 187 Anca R. Radulescu˘

ix x Contents

9 Schizophrenia Has a High , but Where Are the Genes? ...... 219 Patrick P. McDonald and Shiva M. Singh 10 Changes in Gene Expression in Subjects with Schizophrenia Associated with Disease Progression ...... 237 Brian Dean, Andrew Gibbons, Elizabeth Scarr, and Elizabeth A. Thomas 11 Amino Acids in Schizophrenia Ð Glycine, Serine and Arginine ...... 253 Glen B. Baker, Jaime E.C. Hallak, Alexandria F. Dilullo, Lisa Burback, and Serdar M. Dursun 12 Developmental Consequences of Prenatal Exposure to Maternal Immune Activation ...... 263 Stefanie L. Bronson and Neil M. Richtand 13 Glutamatergic Neurotransmission Abnormalities and Schizophrenia ...... 287 Yogesh Dwivedi and Ghanshyam N. Pandey 14 Mathematical Models in Schizophrenia ...... 305 Zhen Qi, Gary W. Miller, and Eberhard O. Voit 15 Methamphetamine-Associated Psychosis: A Model for Biomarker Discovery in Schizophrenia ...... 327 Chad A. Bousman, Stephen J. Glatt, Ian P. Everall, and Ming T. Tsuang 16 What Does Proteomics Tell Us About Schizophrenia? ...... 345 Daniel Martins-de-Souza, Wagner F. Gattaz, and Emmanuel Dias-Neto 17 The Role of 3α-Hydroxy-5α-Pregnan-20-One in Mediating the Development and/or Expression of Schizophrenia Spectrum Disorders: Findings in Rodents Models and Clinical Populations ...... 367 Cheryl A. Frye and Danielle C. Llaneza 18 Neural Substrates of Emotion Dysfunctions in Patients with Schizophrenia Spectrum Disorders ...... 405 Katharina D. Pauly and Ute Habel 19 Brain Morphological Abnormalities at the Onset of Schizophrenia and Other Psychotic Disorders: A Review of the Evidence ...... 431 Antonio Vita, Luca De Peri, Cesare Turrina, and Emilio Sacchetti 20 Mapping Prodromal Psychosis ...... 445 Paolo Fusar-Poli, Stefan Borgwardt, and Philip McGuire Contents xi

Afterword The Future of the Schizophrenia Construct and Acquisition of New Knowledge ...... 473 William T. Carpenter Contents to Volume II ...... 477 Contents to Volume III ...... 479 Contributors to Volume II ...... 481 Contributors to Volume III ...... 487 Index ...... 491 This is Blank Page Integra xii Contributors

Glen B. Baker Neurochemical Research Unit and Bebensee Schizophrenia Research Unit, Department of Psychiatry, University of Alberta, Edmonton, AB, Canada T6G 2G3, [email protected] Deanna M. Barch Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA; Department of Psychology, Washington University School of Medicine, St. Louis, MO, USA; Department of Radiology, Washington University School of Medicine, St. Louis, MO, USA, [email protected] Aksel Bertelsen Center of Psychiatric Research, Århus University Hospital, Risskov, Denmark, [email protected] Stefan Borgwardt Department of Psychosis Studies, Institute of Psychiatry, London, UK, [email protected] Chad A. Bousman Department of Psychiatry, University of Melbourne, Victoria, Australia, [email protected] Stefanie L. Bronson Department of Psychiatry, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Graduate Program in Neuroscience, University of Cincinnati College of Medicine, Cincinnati, OH, USA, [email protected] Lisa Burback Neurochemical Research Unit and Bebensee Schizophrenia Research Unit, Department of Psychiatry, University of Alberta, Edmonton, AB, Canada, [email protected] Bernard J. Crespi Department of Biosciences, Simon Fraser University, Burnaby, BC, Canada, [email protected] Brian Dean The Rebecca L. Cooper Research Laboratories, The Mental Health Research Institute, Parkville, VIC, Australia; The Department of Psychiatry, The University of Melbourne, Parkville, VIC, Australia, [email protected] Emmanuel Dias-Neto Laboratório de Neurociências (LIM-27), Instituto de Psiquiatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP,

xiii xiv Contributors

Brazil; Laboratory of Medical and Bioinformatics, Centro International de Pesquisa e Ensino (CIPE) – Hospital AC Camargo, São Paulo, SP, Brazil, [email protected] Alexandria F. Dilullo Neurochemical Research Unit and Bebensee Schizophrenia Research Unit, Department of Psychiatry, University of Alberta, Edmonton, AB, Canada, [email protected] Serdar M. Dursun Neurochemical Research Unit and Bebensee Schizophrenia Research Unit, Department of Psychiatry, University of Alberta, Edmonton, AB, Canada; National Science and Technology Institute for Translational Medicine, Ribeirão Preto, SP, Brazil, [email protected] Yael Dvir Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA, [email protected] Yogesh Dwivedi Department of Psychiatry, University of Illinois, Chicago, IL, USA, [email protected] Ian P. Everall Department of Psychiatry, University of Melbourne, Melbourne, VIC, Australia, [email protected] Jean A. Frazier Child and Adolescent Psychiatry, Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA, [email protected] Cheryl A. Frye Department of Psychology, University at Albany-SUNY, Albany, NY, USA; Department of Biology Sciences, University at Albany-SUNY, Albany, NY, USA; The Center for Life Sciences, University at Albany-SUNY, Albany, NY, USA; The Center for Neuroscience Research, University at Albany-SUNY, Albany, NY, USA, [email protected] Paolo Fusar-Poli Department of Psychosis Studies, Institute of Psychiatry, London, UK, [email protected] Wagner F. Gattaz Laboratório de Neurociências (LIM-27), Instituto de Psiquiatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil, [email protected] Andrew Gibbons The Rebecca L. Cooper Research Laboratories, The Mental Health Research Institute, Parkville, VIC, Australia; The Department of Psychiatry, The University of Melbourne, Parkville, VIC, Australia, [email protected] Stephen J. Glatt Departments of Psychiatry and Behavioral Sciences and of Neuroscience and Physiology, Medical Genetics Research Center, SUNY Upstate Medical University, Syracuse, NY, USA, [email protected] Irving I. Gottesman Departments of Psychiatry and Psychology, , Minneapolis, MN, USA, [email protected] Contributors xv

Ute Habel Department of Psychiatry, Psychotherapy and Psychosomatics, Medical School, RWTH Aachen University, Aachen, Germany, [email protected] Jaime E.C. Hallak National Science and Technology Institute for Translational Medicine, Ribeirão Preto, SP, Brazil; Department of Neuroscience and Behavioral Sciences, Ribeirao Preto School of Medicine, University of Sao Paulo (USP), Ribeirao Preto, SP, Brazil, [email protected] Mark F. Lenzenweger Department of Psychology, State University of New York at Binghamton, Binghamton, NY, USA; Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA; The Personality Disorders Institute, The New York – Presbyterian Hospital, White Plains, NY, USA, [email protected] Danielle C. Llaneza Department of Psychology, University at Albany-SUNY, Albany, NY, USA, [email protected] Vishal Madaan Assistant Professor in Psychiatry and Neurobehavioral Sciences, Division of Child and Family Psychiatry, Charlottesville, VA 22908, USA, [email protected] Daniel Mamah Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA, [email protected] Daniel Martins-de-Souza Max Planck Institute of Psychiatry, Munich, Germany; Department of Chemical Engineering and Biotechnology, University of Cambridge, Cambridge, UK; Laboratório de Neurociências (LIM-27), Instituto de Psiquiatria, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil, [email protected]; [email protected] Patrick P. McDonald Molecular Genetics Unit, Department of Biology, University of Western Ontario, London, ON, Canada, [email protected] Philip McGuire Department of Psychosis Studies, Institute of Psychiatry, London, UK, [email protected] Gary W. Miller Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA; Department of Environmental Health, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA, [email protected] Ghanshyam N. Pandey Department of Psychiatry, University of Illinois, Chicago, IL, USA, [email protected] Katharina D. Pauly Department of Psychiatry, Psychotherapy and Psychosomatics, Medical School, RWTH Aachen University, Aachen, Germany, [email protected] xvi Contributors

Luca De Peri Department of Mental Health, Spedali Civili Hospital, The Psychiatric Clinic, Brescia University School of Medicine, Brescia, Italy, [email protected] Anca R. Radulescuù Department of Mathematics, University of Colorado, Boulder, CO, USA; Department of Biomedical Engineering, Stony Brook University School of Medicine, Stony Brook, NY, USA, [email protected] Neil M. Richtand Cincinnati Veterans Affairs Medical Center, Psychiatry Service (V116A), Cincinnati, OH, USA; Department of Psychiatry, University of Cincinnati College of Medicine, Cincinnati, OH, USA; Graduate Program in Neuroscience, University of Cincinnati College of Medicine, Cincinnati, OH, USA, [email protected] Michael S. Ritsner Department of Psychiatry, Rappaport Faculty of Medicine, Technion – Israel Institute of Technology, Haifa, Israel; Acute Department, Sha’ar Menashe Mental Health Center, Hadera, Israel, [email protected]; [email protected] Emilio Sacchetti Department of Mental Health, Spedali Civili Hospital, The Psychiatric Clinic, Brescia University School of Medicine, Brescia, Italy, [email protected] Elizabeth Scarr The Rebecca L. Cooper Research Laboratories, The Mental Health Research Institute, Parkville, VIC, Australia; The Department of Psychiatry, The University of Melbourne, Parkville, VIC, Australia, [email protected] Shiva M. Singh Molecular Genetics Unit, Western Science Centre, The University of Western Ontario, London, ON, Canada, [email protected] Elizabeth A. Thomas The Department of Molecular Biology, The Scripps Research Institute, La Jolla, CA, USA, [email protected] Ming T. Tsuang Department of Psychiatry, Center for Behavioral Genomics, University of California, San Diego, CA, USA; Harvard Medical School and Harvard School of Public Health, Harvard Institute of Psychiatric Epidemiology and Genetics, Boston, MA, USA, [email protected] Cesare Turrina Department of Mental Health, Spedali Civili Hospital, The Psychiatric Clinic, Brescia University School of Medicine, Brescia, Italy, [email protected] Antonio Vita Department of Mental Health, Spedali Civili Hospital, The Psychiatric Clinic, University of Brescia, Brescia, Italy, [email protected] Eberhard O. Voit Department of Biomedical Engineering, Georgia Institute of Technology, Emory University Medical School, Atlanta, GA 30332, USA; Integrative BioSystems Institute, Georgia Institute of Technology, Atlanta, GA 30332, USA, [email protected] Contributors xvii

Daniel R. Wilson Department of Psychiatry, Creighton University Medical Center, Omaha, NE, USA, [email protected] Lauren Yakutis Child and Adolescent NeuroDevelopment Initiative, Department of Psychiatry, University of Massachusetts Medical School, Worcester, MA, USA, [email protected] Zhen Qi Department of Biomedical Engineering, Georgia Institute of Technology, Emory University Medical School, Atlanta, GA 30332, USA; Integrative BioSystems Institute, Georgia Institute of Technology, Atlanta, GA 30332, USA; Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA 30322, USA, [email protected]