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3. European clinical guidelines for Tourette Syndrome and other tic disorders. Part I

Author

Cath, Danielle C., Tammy, Hedderly, Ludolph, Andrea G., Stern, Jeremy S., Tara, Murphy, Andreas, Hartmann, Virginie, Czernecki, Mary May Robertson, Davide, Martino, Munchau, A., Rizzo, R., Essts Guidelines Group Androutsos, C., Aschauer, H., Baird, G., Bos Veneman, N., Brambilla, A., Cardona, Francesco Carmelo Giovanni, Cath, D. c., Cavanna, A., Czernecki, V., Dehning, S., Eapter, A., Farkas, L., Gadaros, J., Hartmann, A., Hauser, E., Heyman, I., Hedderly, T., Hoekstra, P. j., Korsgaard, A., Jackson, G. m., Larsson, L., Ludolph, A. g., Martino, D., Menghetti, C., Mol Debes, N., Muller, N., Muller Vahl, K., Murphy, T., Musil, R., Nagy, P., Nurnberger, J., Oostra, B., Paschou, P., Pasquini, M., Plessen, K. j., Porta, M., Rickards, H., Robertson, M. m., Roessner, V., Rothenberger, A., Servello, D., Skov, L., Stern, J. s., Strand, G., Tarnok, Z., Termine, C., Van Der Griendt, J., Verdellen, C., Visser Vandewalle, V., Wannag, E., Wolanczyck, T., Department of Clinical and Health Psychology, Utrecht University/Altrecht Academic Anxiety Outpatient Services, Tourettes Clinic-Evelina Childrens Hospital at Guys and St. Thomas', Kings Health Partners AHSC, Department of Child and Adolescent Psychiatry, Universität Ulm - Ulm University [Ulm, Allemagne], UK Tourette SyndromeAssociation, Department of Neurology, St George's Hospital, Tourette SyndromeClinic, Great Ormond Street Hospital for Children [London] (GOSH), Centre De Référence National 'Syndrome Gilles de la Tourette', Pôle des Maladies du Système Nerveux [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Mental Health Sciences, UCL, Department of Neurological and Psychiatric Sciences, Università degli studi di Bari Aldo Moro (UNIBA), Department of Neurology, University Hospital Medical Centre, Department of Child and Adolescent Neurology and Psychiatry, Catania University, Cath, D, Hedderly, T, Ludolph, A, Stern, J, Murphy, T, Hartmann, A, Czernecki, V, Robertson, M, Martino, D, Munchau, A, Rizzo, R, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cavanna, A, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Strand, G, Tarnok, Z, Termine, C, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Neurochirurgie, RS: MHeNs School for Mental Health and Neuroscience, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli studi di Bari Aldo Moro = University of Bari Aldo Moro (UNIBA), Università degli studi di Catania = University of Catania (Unict), and University of Groningen

Subjects
YOUNG-PEOPLE, Comorbidity, Neuropsychological Tests, Guideline, Severity of Illness Index, Tourette syndrome, 0302 clinical medicine, DEFICIT-HYPERACTIVITY DISORDER, QUALITY-OF-LIFE, Developmental and Educational Psychology, Child and adolescent psychiatry, Tic, Tourette, Assessment, Guidelines, medicine.diagnostic_test, ATTENTION-DEFICIT/HYPERACTIVITY DISORDER, Neuropsychology, General Medicine, 3. Good health, Europe, Psychiatry and Mental health, assessment, guidelines, tics, tourette, Tics, TEST-RETEST RELIABILITY, Psychology, medicine.medical_specialty, Tourette, Physical examination, Article, SELF-REPORT, Diagnosis, Differential, 03 medical and health sciences, VERSION DISC-R, Quality of life (healthcare), medicine, Humans, Attention deficit hyperactivity disorder, Pediatrics, Perinatology, and Child Health, Psychiatry, Physical Examination, DIAGNOSTIC INTERVIEW SCHEDULE, Tic, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, OBSESSIVE-COMPULSIVE DISORDER, medicine.disease, 030227 psychiatry, PSYCHOMETRIC PROPERTIES, Tic Disorders, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

International audience; A working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines of Tourette Syndrome (TS). The available literature including national guidelines was thoroughly screened and extensively discussed in the expert group of ESSTS members. Detailed clinical assessment guidelines of tic disorders and their comorbidities in both children and adults are presented. Screening methods that might be helpful and necessary for specialists' differential diagnosis process are suggested in order to further analyse cognitive abilities, emotional functions and motor skills. Besides clinical interviews and physical examination, additional specific tools (questionnaires, checklists and neuropsychological tests) are recommended.

Published
2011

4. European clinical guidelines for Tourette syndrome and other tic disorders. Part II: pharmacological treatment

Author

Roessner, V, Plessen, K, Rothenberger, A, Ludolph, A, Rizzo, R, Skov, L, Strand, G, Stern, J, Termine, C, Hoekstra, P, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hartmann, A, Hauser, E, Heyman, I, Hedderly, T, Korsgaard, A, Jackson, G, Larsson, L, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Murphy, T, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Porta, M, Rickards, H, Robertson, M, Servello, D, Tarnok, Z, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Roessner V, Plessen KJ, Rothenberger A, Ludolph AG, Rizzo R, Skov L, Strand G, Stern JS, Termine C, Hoekstra PJ, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hartmann A, Hauser E, Heyman I, Hedderly T, Korsgaard A, Jackson GM, Larsson L, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Murphy T, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Porta M, Rickards H, Robertson MM, Servello D, Tarnok Z, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, Wolanczyck T, Roessner, V, Plessen, K, Rothenberger, A, Ludolph, A, Rizzo, R, Skov, L, Strand, G, Stern, J, Termine, C, Hoekstra, P, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hartmann, A, Hauser, E, Heyman, I, Hedderly, T, Korsgaard, A, Jackson, G, Larsson, L, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Murphy, T, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Porta, M, Rickards, H, Robertson, M, Servello, D, Tarnok, Z, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Roessner V, Plessen KJ, Rothenberger A, Ludolph AG, Rizzo R, Skov L, Strand G, Stern JS, Termine C, Hoekstra PJ, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hartmann A, Hauser E, Heyman I, Hedderly T, Korsgaard A, Jackson GM, Larsson L, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Murphy T, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Porta M, Rickards H, Robertson MM, Servello D, Tarnok Z, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, and Wolanczyck T

Abstract

To develop a European guideline on pharmacologic treatment of Tourette syndrome (TS) the available literature was thoroughly screened and extensively discussed by a working group of the European Society for the Study of Tourette syndrome (ESSTS). Although there are many more studies on pharmacotherapy of TS than on behavioral treatment options, only a limited number of studies meets rigorous quality criteria. Therefore, we have devised a two-stage approach. First, we present the highest level of evidence by reporting the findings of existing Cochrane reviews in this field. Subsequently, we provide the first comprehensive overview of all reports on pharmacological treatment options for TS through a MEDLINE, PubMed, and EMBASE search for all studies that document the effect of pharmacological treatment of TS and other tic disorders between 1970 and November 2010. We present a summary of the current consensus on pharmacological treatment options for TS in Europe to guide the clinician in daily practice. This summary is, however, rather a status quo of a clinically helpful but merely low evidence guideline, mainly driven by expert experience and opinion, since rigorous experimental studies are scarce.

Published
2011

5. European clinical guidelines for Tourette syndrome and other tic disorders. Part I: assessment

Author

Cath, D, Hedderly, T, Ludolph, A, Stern, J, Murphy, T, Hartmann, A, Czernecki, V, Robertson, M, Martino, D, Munchau, A, Rizzo, R, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cavanna, A, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Strand, G, Tarnok, Z, Termine, C, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Cath DC, Hedderly T, Ludolph AG, Stern JS, Murphy T, Hartmann A, Czernecki V, Robertson MM, Martino D, Munchau A, Rizzo R, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cavanna A, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Roessner V, Rothenberger A, Servello D, Skov L, Strand G, Tarnok Z, Termine C, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, Wolanczyck T, Cath, D, Hedderly, T, Ludolph, A, Stern, J, Murphy, T, Hartmann, A, Czernecki, V, Robertson, M, Martino, D, Munchau, A, Rizzo, R, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cavanna, A, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Strand, G, Tarnok, Z, Termine, C, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Cath DC, Hedderly T, Ludolph AG, Stern JS, Murphy T, Hartmann A, Czernecki V, Robertson MM, Martino D, Munchau A, Rizzo R, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cavanna A, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Roessner V, Rothenberger A, Servello D, Skov L, Strand G, Tarnok Z, Termine C, Van Der Griendt J, Verdellen C, Visser-Vandewalle V, Wannag E, and Wolanczyck T

Abstract

A working group of the European Society for the Study of Tourette Syndrome (ESSTS) has developed the first European assessment guidelines of Tourette Syndrome (TS). The available literature including national guidelines was thoroughly screened and extensively discussed in the expert group of ESSTS members. Detailed clinical assessment guidelines of tic disorders and their comorbidities in both children and adults are presented. Screening methods that might be helpful and necessary for specialists' differential diagnosis process are suggested in order to further analyse cognitive abilities, emotional functions and motor skills. Besides clinical interviews and physical examination, additional specific tools (questionnaires, checklists and neuropsychological tests) are recommended.

Published
2011

6. European clinical guidelines for Tourette syndrome and other tic disorders. Part III: Behavioural and psychosocial interventions

Author

Verdellen, C, Van De Griendt, J, Hartmann, A, Murphy, T, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hedderly, T, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Ludolph, A, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Rizzo, R, Robertson, M, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Stern, J, Strand, G, Tarnok, Z, Termine, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Verdellen C, Van De Griendt J, Hartmann A, Murphy T, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hedderly T, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Ludolph AG, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Rizzo R, Robertson MM, Roessner V, Rothenberger A, Servello D, Skov L, Stern JS, Strand G, Tarnok Z, Termine C, Visser-Vandewalle V, Wannag E, Wolanczyck T, Verdellen, C, Van De Griendt, J, Hartmann, A, Murphy, T, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hedderly, T, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Ludolph, A, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Rizzo, R, Robertson, M, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Stern, J, Strand, G, Tarnok, Z, Termine, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Verdellen C, Van De Griendt J, Hartmann A, Murphy T, Androutsos C, Aschauer H, Baird G, Bos-Veneman N, Brambilla A, Cardona F, Cath DC, Cavanna A, Czernecki V, Dehning S, Eapter A, Farkas L, Gadaros J, Hauser E, Heyman I, Hedderly T, Hoekstra PJ, Korsgaard A, Jackson GM, Larsson L, Ludolph AG, Martino D, Menghetti C, Debes NM, Muller N, Muller-Vahl K, Munchau A, Musil R, Nagy P, Nurnberger J, Oostra B, Paschou P, Pasquini M, Plessen KJ, Porta M, Rickards H, Rizzo R, Robertson MM, Roessner V, Rothenberger A, Servello D, Skov L, Stern JS, Strand G, Tarnok Z, Termine C, Visser-Vandewalle V, Wannag E, and Wolanczyck T

Abstract

https://www.scopus.com/record/display.uri?eid=2-s2.0-79953671767&origin=inward&txGid=f0b1b36d5709f6e790c8e38d3bd219bb#:~:text=This clinical guideline,with drug treatment.

Published
2011

7. European clinical guidelines for Tourette syndrome and other tic disorders. Part III: behavioural and psychosocial interventions

Author

Verdellen, C., Van De Griendt, J., Hartmann, A., Tara, Murphy, Essts Guidelines Group Androutsos, C., Aschauer, H., Baird, G., Bos Veneman, N., Brambilla, A., Cardona, Francesco Carmelo Giovanni, Cath, D. c., Cavanna, A. e., Czernecki, V., Dehning, S., Eapter, A., Farkas, L., Gadaros, J., Hauser, E., Heyman, I., Hedderly, T., Hoekstra, P. j., Korsgaard, A., Jackson, G. m., Larsson, L., Ludolph, A. g., Martino, D., Menghetti, C., Mol Debes, N., Muller, N., Muller Vahl, K., Munchau, A., Murphy, T., Musil, R., Nagy, P., Nurnberger, J., Oostra, B., Paschou, P., Pasquini, M., Plessen, K. j., Porta, M., Rickards, H., Rizzo, R., Robertson, M. m., Roessner, V., Rothenberger, A., Servello, D., Skov, L., Stern, J. s., Strand, G., Tarnok, Z., Termine, C., Van Der Griendt, J., Visser Vandewalle, V., Wannag, E., Wolanczyck, T., Verdellen, C, Van De Griendt, J, Hartmann, A, Murphy, T, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hauser, E, Heyman, I, Hedderly, T, Hoekstra, P, Korsgaard, A, Jackson, G, Larsson, L, Ludolph, A, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Plessen, K, Porta, M, Rickards, H, Rizzo, R, Robertson, M, Roessner, V, Rothenberger, A, Servello, D, Skov, L, Stern, J, Strand, G, Tarnok, Z, Termine, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, HSK Group/Expertise Centre Tics, CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Tourette Syndrome Clinic, Great Ormond Street Hospital for Children [London] (GOSH), Neurochirurgie, RS: MHeNs School for Mental Health and Neuroscience, and University of Groningen

Subjects
literature review, medicine.medical_treatment, Psychological intervention, CHILDREN, Cochrane Library, Guideline, NEUROFEEDBACK, Tourette syndrome, THERAPY, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Behavior Therapy, ADOLESCENTS, Developmental and Educational Psychology, guidelines, behavioural treatment, Tourette, Tic disorders, Behavioural treatment, Psychosocial interventions, SUPPORTIVE PSYCHOTHERAPY, General Medicine, Tic disorder, RANDOMIZED CONTROLLED-TRIAL, 3. Good health, Europe, Psychiatry and Mental health, psychosocial interventions, tic disorders, tourette, Psychology, Psychosocial, medicine.medical_specialty, Tics, Habit reversal training, RELAXATION, HABIT-REVERSAL, 03 medical and health sciences, Psychoeducation, medicine, Humans, Psychosocial intervention, Psychiatry, PEER, SUPPRESSION, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, medicine.disease, 030227 psychiatry, Tic Disorders, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

International audience; This clinical guideline provides recommendations for the behavioural and psychosocial interventions (BPI) of children and adolescents with tic disorders prepared by a working group of the European Society for the Study of Tourette Syndrome (ESSTS). A systematic literature search was conducted to obtain an update on the efficacy of BPI for tics. Relevant studies were identified using computerised searches of the Medline and PsycINFO databases and the Cochrane Library for the years 1950-2010. The search identified no meta-analyses, yet twelve (systematic) reviews and eight randomised controlled trials provided evidence for the current review. Most evidence was found for habit reversal training (HRT) and the available but smaller evidence also supports the efficacy of exposure with response prevention (ERP). Both interventions are considered first line behavioural treatments for tics for both children and adults and should be offered to a patient, taking into account his preference. Treatments that are considered second line or add-on behavioural treatments are contingency management, function based interventions and relaxation training. Neurofeedback is still experimental. Almost no research was identified that examined the efficacy of psychosocial interventions, e.g., psychoeducation and group work. Based on clinical practice, this guideline recommends behavioural treatment as first line offer to patients in most cases. It should be embedded within a psychoeducational and supportive context and can be combined with drug treatment.

Published
2011

8. European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: Deep brain stimulation

Author

Muller Vahl, K. r., Cath, Danielle C., Cavanna, Andrea E., Sandra, Dehning, Mauro, Porta, Robertson, Mary M., Veerle Visser Vandewalle, Essts Guidelines Group Androutsos, C., Aschauer, H., Baird, G., Bos Veneman, N., Brambilla, A., Cardona, Francesco Carmelo Giovanni, Cath, D. c., Cavanna, A. e., Czernecki, V., Dehning, S., Eapter, A., Farkas, L., Gadaros, J., Hartmann, A., Hauser, E., Heyman, I., Hedderly, T., Hoekstra, P. j., Korsgaard, A., Jackson, G. m., Larsson, L., Ludolph, A. g., Martino, D., Menghetti, C., Mol Debes, N., Muller, N., Muller Vahl, K., Munchau, A., Murphy, T., Musil, R., Nagy, P., Nurnberger, J., Oostra, B., Paschou, P., Pasquini, M., Plessen, K. j., Porta, M., Rickards, H., Rizzo, R., Robertson, M. m., Roessner, V., Rothenberger, A., Servello, D., Skov, L., Stern, J. s., Strand, G., Tarnok, Z., Termine, C., Van Der Griendt, J., Verdellen, C., Visser Vandewalle, V., Wannag, E., Wolanczyck, T., University of Groningen, Clinic of Psychiatry, Socialpsychiatry and Psychotherapy, Hannover Medical School [Hannover] (MHH), Department of Clinical and Health Psychology, Utrecht University/Altrecht Academic Anxiety Outpatient Services, Department of Neuropsychiatry, Birmingham and Solihull Mental Health NHS Foundation, Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-Universität München (LMU), Movement Disorders and Tourette Centre, Department of Mental Health Sciences, UCL, Department of Neurosurgery, University Hospital Maastricht, Neurochirurgie, RS: MHeNs School for Mental Health and Neuroscience, Muller-Vahl, K, Cath, D, Cavanna, A, Dehning, S, Porta, M, Robertson, M, Visser-Vandewalle, V, and the ESSTS Guidelines, G

Subjects
Pediatrics, Tic, Tourette, Deep Brain Stimulation, Treatment, ASSESSMENT RECOMMENDATIONS, SURGERY, medicine.medical_treatment, DBS, Guideline, Tourette syndrome, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Developmental and Educational Psychology, Deep brain stimulation, THALAMIC-STIMULATION, General Medicine, 3. Good health, Europe, Psychiatry and Mental health, Tics, Anxiety, medicine.symptom, Psychology, medicine.medical_specialty, NUCLEUS-ACCUMBENS, Context (language use), IMPROVEMENT, Guidelines, PATIENT SELECTION, 03 medical and health sciences, medicine, Humans, Tourette, Psychiatry, GLOBUS-PALLIDUS INTERNUS, Tic, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, medicine.disease, 030227 psychiatry, GPI, Supportive psychotherapy, Tic Disorders, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

International audience; Ten years ago deep brain stimulation (DBS) has been introduced as an alternative and promising treatment option for patients suffering from severe Tourette syndrome (TS). It seemed timely to develop a European guideline on DBS by a working group of the European Society for the Study of Tourette Syndrome (ESSTS). For a narrative review a systematic literature search was conducted and expert opinions of the guidelines group contributed also to the suggestions. Of 63 patients reported so far in the literature 59 had a beneficial outcome following DBS with moderate to marked tic improvement. However, randomized controlled studies including a larger number of patients are still lacking. Although persistent serious adverse effects (AEs) have hardly been reported, surgery-related (e.g., bleeding, infection) as well as stimulation-related AEs (e.g., sedation, anxiety, altered mood, changes in sexual function) may occur. At present time, DBS in TS is still in its infancy. Due to both different legality and practical facilities in different European countries these guidelines, therefore, have to be understood as recommendations of experts. However, among the ESSTS working group on DBS in TS there is general agreement that, at present time, DBS should only be used in adult, treatment resistant, and severely affected patients. It is highly recommended to perform DBS in the context of controlled trials.

Published
2011

11. Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Author

Laura M. Thornton, Paul Lichtenstein, Verneri Anttila, Diego Albani, Josep Antoni Ramos-Quiroga, Roger A.H. Adan, Monika Schlögelhofer, Stephen Sanders, Enrique Castelao, Klaus Berger, Nina Dalkner, Urs Heilbronner, Engilbert Sigurdsson, Pablo Mir, Fuquan Zhang, James T.R. Walters, Patrick F. Sullivan, Fragiskos Gonidakis, F. Kyle Satterstrom, Sara Marsal, Per Hoffmann, Amy Perry, Valentina Ciullo, Beate Herpertz-Dahlmann, Catharina Lavebratt, Kieran C. Murphy, Tammy Hedderly, Hyun Ju Hong, Evald Saemundsen, Sascha B. Fischer, Hailiang Huang, Andrew D. Grotzinger, Nienke Vulink, Murray B. Stein, Mark A. Frye, Laura J. Scott, David Curtis, Todd Lencz, Janiece E. DeSocio, Richard A. Belliveau, Eduard Vieta, Andrea Dietrich, Wade H. Berrettini, Kenneth S. Kendler, Marquis P. Vawter, Paul S. Nestadt, Michael E. Talkowski, Manuel Mattheisen, Ingrid Agartz, Elisa Docampo, Bernhard T. Baune, Stefan Ehrlich, Jolanta Lissowska, Felecia Cerrato, Terje Nærland, Robin M. Murray, Jennifer Reichert, Annette M. Hartmann, Hannelore Ehrenreich, Howard J. Edenberg, Katherine A. Halmi, Qingqin S. Li, Peristera Paschou, Marie Bækvad-Hansen, Esther Walton, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Frank Bellivier, Jungeun Song, D. Blake Woodside, Young Shin Kim, Jochen Seitz, Jacques Pantel, Palmiero Monteleone, Erika L. Nurmi, Rodney J. Scott, Kang Sim, Ekaterina A. Khramtsova, Udo Dannlowski, Rolf Adolfsson, Danielle Posthuma, Melissa J. Green, Laura Ibanez-Gomez, Jakob Grove, Elvira Bramon, Gregory L. Hanna, Cynthia M. Bulik, Yiran Guo, Stephan Ripke, Mary M. Robertson, Harald N. Aschauer, Adebayo Anjorin, Joanna Martin, Bertram Müller-Myhsok, Deborah Kaminská, Jose Guzman-Parra, Benedetta Nacmias, Erik G. Jönsson, Jonathan R. I. Coleman, Douglas F. Levinson, Hamdi Mbarek, Gun Peggy Knudsen, Karin Egberts, Mette Nyegaard, Patrik K. E. Magnusson, Mark Adams, Douglas Blackwood, Elisabeth B. Binder, Marcus Ising, Anna R. Docherty, Jim van Os, Nese Direk, Lina Martinsson, Maria Arranz, Christel M. Middeldorp, Stefan Kloiber, Sintia Iole Belangero, Eske M. Derks, Ingrid Melle, Erlend Bøen, Jan Haavik, Federica Piras, Unna N. Danner, Anil K. Malhotra, Gerome Breen, Stephen V. Faraone, Amanda B Zheutlin, Timothy Poterba, Stephan Ruhrmann, Inge Joa, Ulrik Fredrik Malt, Sarah E. Bergen, Federica Tozzi, Lauren A. Weiss, Hana Papezova, Dominic Holland, Elliot S. Gershon, Jaakko Kaprio, Merete Nordentoft, Scott D. Gordon, Christopher Pittenger, Keun-Ah Cheon, Jennifer Jordan, Philip Gorwood, Myrna M. Weissman, Preben Bo Mortensen, Melissa A. Munn-Chernoff, Isobel Heyman, Eun-Young Shin, Christie L. Burton, Katherine Gordon-Smith, Sietske G. Helder, Peter Nagy, Till F. M. Andlauer, Yunpeng Wang, Young Key Kim, Kate Langley, Søren Dalsgaard, Richard Delorme, Torbjørn Elvsåshagen, Bennett L. Leventhal, Giovanni Gambaro, Christos Androutsos, Jennifer Tübing, Marion Roberts, Annelie Nordin Adolfsson, Hakon Hakonarson, Dorothy E. Grice, Vaughan J. Carr, Konstantinos Tziouvas, Stephanie Zerwas, Cathy L. Barr, Michael Conlon O'Donovan, Per Qvist, Beate St Pourcain, Samuel Kuperman, Leila Karhunen, Jack Samuels, Markus M. Nöthen, Martien J H Kas, Alfonso Tortorella, Mikael Landén, Jennifer Crosbie, Marco A. Grados, Joanna M. Biernacka, Paul D. Arnold, Irene A. Malaty, Jurjen J. Luykx, Nicholas Bass, Naomi R. Wray, Catharina A. Hartman, Christina M. Hultman, Michael S. Okun, Brandon Wormley, Michael Bauer, Daniel J. Smith, Ian Jones, Kathryn Roeder, Brien P. Riley, Caroline M. Nievergelt, Katrin Gade, Sarah Kittel-Schneider, Roy H. Perlis, James R. Mitchell, Ziarih Hawi, James Lee, Liz Forty, William E. Bunney, Thomas Damm Als, Catherine Schaefer, Digby Quested, Matteo Cassina, Anna C. Koller, Patrick Turley, Agnes A. Steixner, Anu Raevuori, Assen Jablensky, Peter Holmans, Dong-Ho Song, S. Evelyn Stewart, Jan K. Buitelaar, Fernando S. Goes, Alexander Münchau, Ayman H. Fanous, Nicolas Ramoz, James B. Potash, Monica Gratacos Mayora, Tobias Banaschewski, Céline S. Reinbold, Renata Rizzo, Arianna Di Florio, Lenka Foretova, Gianfranco Spalletta, Aarno Palotie, Eleftheria Zeggini, Lawrence W. Brown, Julie K. O'Toole, Lynn E. DeLisi, Ulrich Schall, Mary Roberson, Barbara J. Coffey, Bryan J. Mowry, Murray J. Cairns, Dan J. Stein, Glyn Lewis, Marta Ribasés, C. Robert Cloninger, Bettina Konte, John B. Vincent, Duncan S. Palmer, Radhika Kandaswamy, Christine Ladd-Acosta, Lars Alfredsson, Frank Visscher, Ulrike Schmidt, Aiden Corvin, Susan L. Santangelo, Brenda W.J.H. Penninx, David J. Porteous, Tetsuya Ando, Arne E. Vaaler, Bru Cormand, Laura Carlberg, Claire Churchhouse, Manfred Stuhrmann, Niamh Mullins, Christine Søholm Hansen, Cathy L. Budman, Hartmut Imgart, Dan E. Arking, James J. McGough, Michael Gill, Christel Depienne, Roland Burghardt, Antonio Julià, Anders M. Dale, Sven Sandin, Katharina Domschke, Maria Grigoroiu-Serbanescu, Susana Jiménez-Murcia, Marianne Giørtz Pedersen, Zsanett Tarnok, Gisli Baldursson, Michele T. Pato, David M. Hougaard, Thorgeir E. Thorgeirsson, Katharina Bey, Kerstin J. Plessen, Margaret A. Richter, Ole A. Andreassen, Claudine Laurent-Levinson, Leonid Padyukov, Jacques Mallet, Daniela Degortes, John R. Kelsoe, Robert D. Levitan, Andreas Reif, Chaim Huyser, Derek W. Morris, Sina Wanderer, William Byerley, Edna Grünblatt, E.J.C. de Geus, Hyejung Won, Josephine Elia, Rudolf Uher, Jay A. Tischfield, Andreas Karwautz, Gustavo Turecki, Pieter J. Hoekstra, Dorret I. Boomsma, Jacob Rosenthal, Daniele Cusi, Michael C. Neale, Sara Mostafavi, Gwyneth Zai, F. Anthony O'Neill, Gary Donohoe, Karola Rehnström, Harry Brandt, Helena Gaspar, Francis J. McMahon, H-Erich Wichmann, Andrew W. Bergen, Giovanni Coppola, Lea K. Davis, Lenka Slachtova, Olav B. Smeland, Erin C. Dunn, Nicholas G. Martin, Allan L. Naarden, Jo Knight, Cristina Sánchez-Mora, Masashi Ikeda, Lorraine Southam, Sandro Sorbi, Barbara Franke, Martin Schalling, Russell Schachar, Yen-Chen Anne Feng, Kirsten R. Müller-Vahl, André Scherag, Zhaozhong Zhu, Eric A. Storch, Páll Magnússon, David Cohen, Olafur O Gudmundsson, Harvey S. Singer, Brian Kelly, Jonas Bybjerg-Grauholm, Blanca Garcia-Delgar, Thomas Hansen, Carmel M. Loughland, Christine Lochner, Stacy Steinberg, Martin Woods, Jorge A. Quiroz, Raquel Rabionet, Alden Y. Huang, Janice M. Fullerton, María Soler Artigas, Hans J. Grabe, Philip Asherson, Margit Burmeister, Alicia R. Martin, Martin A. Kennedy, Janet Treasure, Anders D. Børglum, Eva C. Schulte, Andreas Hartmann, Frans Henskens, Youl-Ri Kim, Jens Treutlein, Joanna Hauser, Manfred M. Fichter, Damiaan Denys, Ann E. Pulver, Kelly L. Klump, Paul Sandor, Michael Wagner, Philippe Courtet, Sandra Van der Auwera, Susanne Lucae, Eystein Stordal, Michel G. Nivard, Maurizio Clementi, Astrid Morer, Philip B. Mitchell, Huda Akil, Edwin H. Cook, Jennifer L. Moran, Donald W. Black, Jeremiah M. Scharf, Jana Strohmaier, Colm McDonald, Meg M.-J. Wang, Richard M. Myers, Stephanie Godard, Pablo V. Gejman, Athanasios Maras, Marcella Rietschel, Nancy G. Buccola, Konstantinos Hatzikotoulas, Dalila Pinto, Jouke-Jan Hottenga, Kari Stefansson, James S. Sutcliffe, Andres Metspalu, Amaia Hervás, Joel Gelernter, Wolfgang Herzog, Paula Rovira, Gunnar Morken, Tara Murphy, Mark Weiser, Vincent Millischer, Frank Dudbridge, Dan Rujescu, Vladimir Bencko, Valdo Ricca, Kimberly Chambert, Guy A. Rouleau, James J. Crowley, Thomas G. Schulze, Toni-Kim Clarke, Triinu Peters, Gudrun Wagner, Daniel A. Geller, Henry R. Kranzler, G. Bragi Walters, Vera Golimbet, Clement C. Zai, Nigel Williams, Andreas Birgegård, Joseph D. Buxbaum, Elliot M. Tucker-Drob, Jerome C. Foo, Tracey L. Petryshen, Daniel P. Howrigan, Hunna J. Watson, Franziska Degenhardt, Peter R. Schofield, Jesper Buchhave Poulsen, Stefan Herms, Johannes Hebebrand, Mario Maj, George Kirov, Fabrizio Piras, Sara McDevitt, James T. McCracken, Carol A. Mathews, Michael John Owen, Peter Falkai, Donald L. Gilbert, Enda M. Byrne, Fernando Fernández-Aranda, Csaba Barta, Stéphane Jamain, Jubao Duan, Dongmei Yu, Danielle C. Cath, Ole Mors, Sigrun Hope, Laramie E. Duncan, Alan R. Sanders, Sang-Yun Oh, Carsten Bøcker Pedersen, Henning Tiemeier, Roseann E. Peterson, Raymond K. Walters, Margarita C T Slof-Op 't Landt, Madeline Alexander, Stephanie Le Hellard, Ina Giegling, Annemarie A. van Elburg, Steven P. Hamilton, Vesna Boraska Perica, Thomas V. Fernandez, Danielle M. Dick, Francesco Bettella, Roel A. Ophoff, Grant W. Montgomery, Gerald Nestadt, Nakao Iwata, Jessica H. Baker, Walter H. Kaye, Jeremy M. Silverman, Mark J. Daly, Robert A. King, Sarah E. Medland, Anastasios Konstantinidis, Robert D. Oades, Samuel H. Zinner, Steven Crawford, Daniel H. Geschwind, Patrick W. L. Leung, Martin Alda, Marie Navratilova, Pak C. Sham, Paul A. Tooney, Tian Ge, Veit Roessner, Martin Preisig, Thomas Werge, Eli A. Stahl, David A. Collier, Stephanie H. Witt, Dermot Walsh, Miquel Casas, Anna Keski-Rahkonen, Jane H. Christensen, Silvia De Rubeis, Giorgio Pistis, Sven Cichon, Bruno Etain, Dominique Campion, O. Joseph Bienvenu, Christian Dina, Manolis Kogevinas, Thomas Espeseth, Benjamin M. Neale, Ditte Demontis, Klaus-Peter Lesch, Marina Mitjans, Tiffany A. Greenwood, Marcos Madruga-Garrido, Sibylle G. Schwab, Oedegaard Ketil Joachim, Hreinn Stefansson, Sara A. Paciga, Monica Forzan, Dieter B. Wildenauer, Lena Backlund, A. Jeremy Willsey, Carlos N. Pato, Nicholas John Craddock, Inge A. Meijer, Sandra K. Loo, Filip Rybakowski, Tracey D. Wade, Scott J. Crow, Bernard Lerer, Valsamma Eapen, Esben Agerbo, Andrew M. McIntosh, Luis Augusto Rohde, Susan L. McElroy, Stephan Zipfel, Peter P. Zandi, Cathryn M. Lewis, Lars Klareskog, Martin Begemann, Phil Lee, Richard Anney, Mark A. Bellgrove, Lisa Jones, Andreas J. Forstner, Agnieszka Słopień, Hilary Coon, Dong Li, Alessandro Serretti, Carsten Horn, Christos Pantelis, Ryan L. Collins, David M. Howard, Lucía Colodro-Conde, Pippa A. Thomson, Martin Hautzinger, Alysa E. Doyle, Julie Hagstrøm, Oliver S. P. Davis, Karen S. Mitchell, Jordan W. Smoller, Michael Strober, John I. Nurnberger, Andrea G. Ludolph, Monika Budde, Anna Maaser, Lambertus Klei, Aribert Rothenberger, Yulia Worbe, Fabian Streit, James L. Kennedy, Barbara E. Stranger, Ashley Dumont, Jianxin Shi, Dale R. Nyholt, Craig Johnson, Jonna Kuntsi, Yun-Joo Koh, Loes M. Olde Loohuis, Robert B. Freedman, Anke Hinney, Susanne Walitza, Enrico Domenici, Margarita Rivera, Sodahm Kook, Erica Greenberg, Tetyana Zayats, Josef Frank, Gary A. Heiman, Andrew McQuillin, Abraham Reichenberg, Piotr M. Czerski, Humberto Nicolini, Lee P.H., Anttila V., Won H., Feng Y.-C.A., Rosenthal J., Zhu Z., Tucker-Drob E.M., Nivard M.G., Grotzinger A.D., Posthuma D., Wang M.M.-J., Yu D., Stahl E.A., Walters R.K., Anney R.J.L., Duncan L.E., Ge T., Adolfsson R., Banaschewski T., Belangero S., Cook E.H., Coppola G., Derks E.M., Hoekstra P.J., Kaprio J., Keski-Rahkonen A., Kirov G., Kranzler H.R., Luykx J.J., Rohde L.A., Zai C.C., Agerbo E., Arranz M.J., Asherson P., Baekvad-Hansen M., Baldursson G., Bellgrove M., Belliveau R.A., Buitelaar J., Burton C.L., Bybjerg-Grauholm J., Casas M., Cerrato F., Chambert K., Churchhouse C., Cormand B., Crosbie J., Dalsgaard S., Demontis D., Doyle A.E., Dumont A., Elia J., Grove J., Gudmundsson O.O., Haavik J., Hakonarson H., Hansen C.S., Hartman C.A., Hawi Z., Hervas A., Hougaard D.M., Howrigan D.P., Huang H., Kuntsi J., Langley K., Lesch K.-P., Leung P.W.L., Loo S.K., Martin J., Martin A.R., McGough J.J., Medland S.E., Moran J.L., Mors O., Mortensen P.B., Oades R.D., Palmer D.S., Pedersen C.B., Pedersen M.G., Peters T., Poterba T., Poulsen J.B., Ramos-Quiroga J.A., Reif A., Ribases M., Rothenberger A., Rovira P., Sanchez-Mora C., Satterstrom F.K., Schachar R., Artigas M.S., Steinberg S., Stefansson H., Turley P., Walters G.B., Werge T., Zayats T., Arking D.E., Bettella F., Buxbaum J.D., Christensen J.H., Collins R.L., Coon H., De Rubeis S., Delorme R., Grice D.E., Hansen T.F., Holmans P.A., Hope S., Hultman C.M., Klei L., Ladd-Acosta C., Magnusson P., Naerland T., Nyegaard M., Pinto D., Qvist P., Rehnstrom K., Reichenberg A., Reichert J., Roeder K., Rouleau G.A., Saemundsen E., Sanders S.J., Sandin S., St Pourcain B., Stefansson K., Sutcliffe J.S., Talkowski M.E., Weiss L.A., Willsey A.J., Agartz I., Akil H., Albani D., Alda M., Als T.D., Anjorin A., Backlund L., Bass N., Bauer M., Baune B.T., Bellivier F., Bergen S.E., Berrettini W.H., Biernacka J.M., Blackwood D.H.R., Boen E., Budde M., Bunney W., Burmeister M., Byerley W., Byrne E.M., Cichon S., Clarke T.-K., Coleman J.R.I., Craddock N., Curtis D., Czerski P.M., Dale A.M., Dalkner N., Dannlowski U., Degenhardt F., Di Florio A., Elvsashagen T., Etain B., Fischer S.B., Forstner A.J., Forty L., Frank J., Frye M., Fullerton J.M., Gade K., Gaspar H.A., Gershon E.S., Gill M., Goes F.S., Gordon S.D., Gordon-Smith K., Green M.J., Greenwood T.A., Grigoroiu-Serbanescu M., Guzman-Parra J., Hauser J., Hautzinger M., Heilbronner U., Herms S., Hoffmann P., Holland D., Jamain S., Jones I., Jones L.A., Kandaswamy R., Kelsoe J.R., Kennedy J.L., Joachim O.K., Kittel-Schneider S., Kogevinas M., Koller A.C., Lavebratt C., Lewis C.M., Li Q.S., Lissowska J., Loohuis L.M.O., Lucae S., Maaser A., Malt U.F., Martin N.G., Martinsson L., McElroy S.L., McMahon F.J., McQuillin A., Melle I., Metspalu A., Millischer V., Mitchell P.B., Montgomery G.W., Morken G., Morris D.W., Muller-Myhsok B., Mullins N., Myers R.M., Nievergelt C.M., Nordentoft M., Adolfsson A.N., Nothen M.M., Ophoff R.A., Owen M.J., Paciga S.A., Pato C.N., Pato M.T., Perlis R.H., Perry A., Potash J.B., Reinbold C.S., Rietschel M., Rivera M., Roberson M., Schalling M., Schofield P.R., Schulze T.G., Scott L.J., Serretti A., Sigurdsson E., Smeland O.B., Stordal E., Streit F., Strohmaier J., Thorgeirsson T.E., Treutlein J., Turecki G., Vaaler A.E., Vieta E., Vincent J.B., Wang Y., Witt S.H., Zandi P., Adan R.A.H., Alfredsson L., Ando T., Aschauer H., Baker J.H., Bencko V., Bergen A.W., Birgegard A., Perica V.B., Brandt H., Burghardt R., Carlberg L., Cassina M., Clementi M., Courtet P., Crawford S., Crow S., Crowley J.J., Danner U.N., Davis O.S.P., Degortes D., DeSocio J.E., Dick D.M., Dina C., Docampo E., Egberts K., Ehrlich S., Espeseth T., Fernandez-Aranda F., Fichter M.M., Foretova L., Forzan M., Gambaro G., Giegling I., Gonidakis F., Gorwood P., Mayora M.G., Guo Y., Halmi K.A., Hatzikotoulas K., Hebebrand J., Helder S.G., Herpertz-Dahlmann B., Herzog W., Hinney A., Imgart H., Jimenez-Murcia S., Johnson C., Jordan J., Julia A., Kaminska D., Karhunen L., Karwautz A., Kas M.J.H., Kaye W.H., Kennedy M.A., Kim Y.-R., Klareskog L., Klump K.L., Knudsen G.P.S., Landen M., Le Hellard S., Levitan R.D., Li D., Lichtenstein P., Maj M., Marsal S., McDevitt S., Mitchell J., Monteleone P., Monteleone A.M., Munn-Chernoff M.A., Nacmias B., Navratilova M., O'Toole J.K., Padyukov L., Pantel J., Papezova H., Rabionet R., Raevuori A., Ramoz N., Reichborn-Kjennerud T., Ricca V., Roberts M., Rujescu D., Rybakowski F., Scherag A., Schmidt U., Seitz J., Slachtova L., Slof-Op't Landt M.C.T., Slopien A., Sorbi S., Southam L., Strober M., Tortorella A., Tozzi F., Treasure J., Tziouvas K., van Elburg A.A., Wade T.D., Wagner G., Walton E., Watson H.J., Wichmann H.-E., Woodside D.B., Zeggini E., Zerwas S., Zipfel S., Adams M.J., Andlauer T.F.M., Berger K., Binder E.B., Boomsma D.I., Castelao E., Colodro-Conde L., Direk N., Docherty A.R., Domenici E., Domschke K., Dunn E.C., Foo J.C., de. Geus E.J.C., Grabe H.J., Hamilton S.P., Horn C., Hottenga J.-J., Howard D., Ising M., Kloiber S., Levinson D.F., Lewis G., Magnusson P.K.E., Mbarek H., Middeldorp C.M., Mostafavi S., Nyholt D.R., Penninx B.W., Peterson R.E., Pistis G., Porteous D.J., Preisig M., Quiroz J.A., Schaefer C., Schulte E.C., Shi J., Smith D.J., Thomson P.A., Tiemeier H., Uher R., van der Auwera S., Weissman M.M., Alexander M., Begemann M., Bramon E., Buccola N.G., Cairns M.J., Campion D., Carr V.J., Cloninger C.R., Cohen D., Collier D.A., Corvin A., DeLisi L.E., Donohoe G., Dudbridge F., Duan J., Freedman R., Gejman P.V., Golimbet V., Godard S., Ehrenreich H., Hartmann A.M., Henskens F.A., Ikeda M., Iwata N., Jablensky A.V., Joa I., Jonsson E.G., Kelly B.J., Knight J., Konte B., Laurent-Levinson C., Lee J., Lencz T., Lerer B., Loughland C.M., Malhotra A.K., Mallet J., McDonald C., Mitjans M., Mowry B.J., Murphy K.C., Murray R.M., O'Neill F.A., Oh S.-Y., Palotie A., Pantelis C., Pulver A.E., Petryshen T.L., Quested D.J., Riley B., Sanders A.R., Schall U., Schwab S.G., Scott R.J., Sham P.C., Silverman J.M., Sim K., Steixner A.A., Tooney P.A., van Os J., Vawter M.P., Walsh D., Weiser M., Wildenauer D.B., Williams N.M., Wormley B.K., Zhang F., Androutsos C., Arnold P.D., Barr C.L., Barta C., Bey K., Bienvenu O.J., Black D.W., Brown L.W., Budman C., Cath D., Cheon K.-A., Ciullo V., Coffey B.J., Cusi D., Davis L.K., Denys D., Depienne C., Dietrich A., Eapen V., Falkai P., Fernandez T.V., Garcia-Delgar B., Geller D.A., Gilbert D.L., Grados M.A., Greenberg E., Grunblatt E., Hagstrom J., Hanna G.L., Hartmann A., Hedderly T., Heiman G.A., Heyman I., Hong H.J., Huang A., Huyser C., Ibanez-Gomez L., Khramtsova E.A., Kim Y.K., Kim Y.-S., King R.A., Koh Y.-J., Konstantinidis A., Kook S., Kuperman S., Leventhal B.L., Lochner C., Ludolph A.G., Madruga-Garrido M., Malaty I., Maras A., McCracken J.T., Meijer I.A., Mir P., Morer A., Muller-Vahl K.R., Munchau A., Murphy T.L., Naarden A., Nagy P., Nestadt G., Nestadt P.S., Nicolini H., Nurmi E.L., Okun M.S., Paschou P., Piras F., Pittenger C., Plessen K.J., Richter M.A., Rizzo R., Robertson M., Roessner V., Ruhrmann S., Samuels J.F., Sandor P., Schlogelhofer M., Shin E.-Y., Singer H., Song D.-H., Song J., Spalletta G., Stein D.J., Stewart S.E., Storch E.A., Stranger B., Stuhrmann M., Tarnok Z., Tischfield J.A., Tubing J., Visscher F., Vulink N., Wagner M., Walitza S., Wanderer S., Woods M., Worbe Y., Zai G., Zinner S.H., Sullivan P.F., Franke B., Daly M.J., Bulik C.M., McIntosh A.M., O'Donovan M.C., Zheutlin A., Andreassen O.A., Borglum A.D., Breen G., Edenberg H.J., Fanous A.H., Faraone S.V., Gelernter J., Mathews C.A., Mattheisen M., Mitchell K.S., Neale M.C., Nurnberger J.I., Ripke S., Santangelo S.L., Scharf J.M., Stein M.B., Thornton L.M., Walters J.T.R., Wray N.R., Geschwind D.H., Neale B.M., Kendler K.S., Smoller J.W., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Epidemiology and Data Science, APH - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Psychiatry, APH - Digital Health, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Kas lab, Adult Psychiatry, Child Psychiatry, ANS - Complex Trait Genetics, Aarno Palotie / Principal Investigator, Jaakko Kaprio / Principal Investigator, Centre of Excellence in Complex Disease Genetics, Genetic Epidemiology, Department of Public Health, University Management, Anna Keski-Rahkonen / Principal Investigator, Department of Medical and Clinical Genetics, Clinicum, HUS Psychiatry, Institute for Molecular Medicine Finland, Research Programs Unit, Genomics of Neurological and Neuropsychiatric Disorders, Biological Psychology, Complex Trait Genetics, APH - Methodology, APH - Personalized Medicine, APH - Health Behaviors & Chronic Diseases, Lee, P. H., Anttila, V., Won, H., Feng, Y. -C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., Wang, M. M. -J., Yu, D., Stahl, E. A., Walters, R. K., Anney, R. J. L., Duncan, L. E., Ge, T., Adolfsson, R., Banaschewski, T., Belangero, S., Cook, E. H., Coppola, G., Derks, E. M., Hoekstra, P. J., Kaprio, J., Keski-Rahkonen, A., Kirov, G., Kranzler, H. R., Luykx, J. J., Rohde, L. A., Zai, C. C., Agerbo, E., Arranz, M. J., Asherson, P., Baekvad-Hansen, M., Baldursson, G., Bellgrove, M., Belliveau, R. A., Buitelaar, J., Burton, C. L., Bybjerg-Grauholm, J., Casas, M., Cerrato, F., Chambert, K., Churchhouse, C., Cormand, B., Crosbie, J., Dalsgaard, S., Demontis, D., Doyle, A. E., Dumont, A., Elia, J., Grove, J., Gudmundsson, O. O., Haavik, J., Hakonarson, H., Hansen, C. S., Hartman, C. A., Hawi, Z., Hervas, A., Hougaard, D. M., Howrigan, D. P., Huang, H., Kuntsi, J., Langley, K., Lesch, K. -P., Leung, P. W. L., Loo, S. K., Martin, J., Martin, A. R., Mcgough, J. J., Medland, S. E., Moran, J. L., Mors, O., Mortensen, P. B., Oades, R. D., Palmer, D. S., Pedersen, C. B., Pedersen, M. G., Peters, T., Poterba, T., Poulsen, J. B., Ramos-Quiroga, J. A., Reif, A., Ribases, M., Rothenberger, A., Rovira, P., Sanchez-Mora, C., Satterstrom, F. K., Schachar, R., Artigas, M. S., Steinberg, S., Stefansson, H., Turley, P., Walters, G. B., Werge, T., Zayats, T., Arking, D. E., Bettella, F., Buxbaum, J. D., Christensen, J. H., Collins, R. L., Coon, H., De Rubeis, S., Delorme, R., Grice, D. E., Hansen, T. F., Holmans, P. A., Hope, S., Hultman, C. M., Klei, L., Ladd-Acosta, C., Magnusson, P., Naerland, T., Nyegaard, M., Pinto, D., Qvist, P., Rehnstrom, K., Reichenberg, A., Reichert, J., Roeder, K., Rouleau, G. A., Saemundsen, E., Sanders, S. J., Sandin, S., St Pourcain, B., Stefansson, K., Sutcliffe, J. S., Talkowski, M. E., Weiss, L. A., Willsey, A. J., Agartz, I., Akil, H., Albani, D., Alda, M., Als, T. D., Anjorin, A., Backlund, L., Bass, N., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S. E., Berrettini, W. H., Biernacka, J. M., Blackwood, D. H. R., Boen, E., Budde, M., Bunney, W., Burmeister, M., Byerley, W., Byrne, E. M., Cichon, S., Clarke, T. -K., Coleman, J. R. I., Craddock, N., Curtis, D., Czerski, P. M., Dale, A. M., Dalkner, N., Dannlowski, U., Degenhardt, F., Di Florio, A., Elvsashagen, T., Etain, B., Fischer, S. B., Forstner, A. J., Forty, L., Frank, J., Frye, M., Fullerton, J. M., Gade, K., Gaspar, H. A., Gershon, E. S., Gill, M., Goes, F. S., Gordon, S. D., Gordon-Smith, K., Green, M. J., Greenwood, T. A., Grigoroiu-Serbanescu, M., Guzman-Parra, J., Hauser, J., Hautzinger, M., Heilbronner, U., Herms, S., Hoffmann, P., Holland, D., Jamain, S., Jones, I., Jones, L. A., Kandaswamy, R., Kelsoe, J. R., Kennedy, J. L., Joachim, O. K., Kittel-Schneider, S., Kogevinas, M., Koller, A. C., Lavebratt, C., Lewis, C. M., Li, Q. S., Lissowska, J., Loohuis, L. M. O., Lucae, S., Maaser, A., Malt, U. F., Martin, N. G., Martinsson, L., Mcelroy, S. L., Mcmahon, F. J., Mcquillin, A., Melle, I., Metspalu, A., Millischer, V., Mitchell, P. B., Montgomery, G. W., Morken, G., Morris, D. W., Muller-Myhsok, B., Mullins, N., Myers, R. M., Nievergelt, C. M., Nordentoft, M., Adolfsson, A. N., Nothen, M. M., Ophoff, R. A., Owen, M. J., Paciga, S. A., Pato, C. N., Pato, M. T., Perlis, R. H., Perry, A., Potash, J. B., Reinbold, C. S., Rietschel, M., Rivera, M., Roberson, M., Schalling, M., Schofield, P. R., Schulze, T. G., Scott, L. J., Serretti, A., Sigurdsson, E., Smeland, O. B., Stordal, E., Streit, F., Strohmaier, J., Thorgeirsson, T. E., Treutlein, J., Turecki, G., Vaaler, A. E., Vieta, E., Vincent, J. B., Wang, Y., Witt, S. H., Zandi, P., Adan, R. A. H., Alfredsson, L., Ando, T., Aschauer, H., Baker, J. H., Bencko, V., Bergen, A. W., Birgegard, A., Perica, V. B., Brandt, H., Burghardt, R., Carlberg, L., Cassina, M., Clementi, M., Courtet, P., Crawford, S., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., Degortes, D., Desocio, J. E., Dick, D. M., Dina, C., Docampo, E., Egberts, K., Ehrlich, S., Espeseth, T., Fernandez-Aranda, F., Fichter, M. M., Foretova, L., Forzan, M., Gambaro, G., Giegling, I., Gonidakis, F., Gorwood, P., Mayora, M. G., Guo, Y., Halmi, K. A., Hatzikotoulas, K., Hebebrand, J., Helder, S. G., Herpertz-Dahlmann, B., Herzog, W., Hinney, A., Imgart, H., Jimenez-Murcia, S., Johnson, C., Jordan, J., Julia, A., Kaminska, D., Karhunen, L., Karwautz, A., Kas, M. J. H., Kaye, W. H., Kennedy, M. A., Kim, Y. -R., Klareskog, L., Klump, K. L., Knudsen, G. P. S., Landen, M., Le Hellard, S., Levitan, R. D., Li, D., Lichtenstein, P., Maj, M., Marsal, S., Mcdevitt, S., Mitchell, J., Monteleone, P., Monteleone, A. M., Munn-Chernoff, M. A., Nacmias, B., Navratilova, M., O'Toole, J. K., Padyukov, L., Pantel, J., Papezova, H., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Roberts, M., Rujescu, D., Rybakowski, F., Scherag, A., Schmidt, U., Seitz, J., Slachtova, L., Slof-Op't Landt, M. C. T., Slopien, A., Sorbi, S., Southam, L., Strober, M., Tortorella, A., Tozzi, F., Treasure, J., Tziouvas, K., van Elburg, A. A., Wade, T. D., Wagner, G., Walton, E., Watson, H. J., Wichmann, H. -E., Woodside, D. B., Zeggini, E., Zerwas, S., Zipfel, S., Adams, M. J., Andlauer, T. F. M., Berger, K., Binder, E. B., Boomsma, D. I., Castelao, E., Colodro-Conde, L., Direk, N., Docherty, A. R., Domenici, E., Domschke, K., Dunn, E. C., Foo, J. C., D, e. Geus E. J. C., Grabe, H. J., Hamilton, S. P., Horn, C., Hottenga, J. -J., Howard, D., Ising, M., Kloiber, S., Levinson, D. F., Lewis, G., Magnusson, P. K. E., Mbarek, H., Middeldorp, C. M., Mostafavi, S., Nyholt, D. R., Penninx, B. W., Peterson, R. E., Pistis, G., Porteous, D. J., Preisig, M., Quiroz, J. A., Schaefer, C., Schulte, E. C., Shi, J., Smith, D. J., Thomson, P. A., Tiemeier, H., Uher, R., van der Auwera, S., Weissman, M. M., Alexander, M., Begemann, M., Bramon, E., Buccola, N. G., Cairns, M. J., Campion, D., Carr, V. J., Cloninger, C. R., Cohen, D., Collier, D. A., Corvin, A., Delisi, L. E., Donohoe, G., Dudbridge, F., Duan, J., Freedman, R., Gejman, P. V., Golimbet, V., Godard, S., Ehrenreich, H., Hartmann, A. M., Henskens, F. A., Ikeda, M., Iwata, N., Jablensky, A. V., Joa, I., Jonsson, E. G., Kelly, B. J., Knight, J., Konte, B., Laurent-Levinson, C., Lee, J., Lencz, T., Lerer, B., Loughland, C. M., Malhotra, A. K., Mallet, J., Mcdonald, C., Mitjans, M., Mowry, B. J., Murphy, K. C., Murray, R. M., O'Neill, F. A., Oh, S. -Y., Palotie, A., Pantelis, C., Pulver, A. E., Petryshen, T. L., Quested, D. J., Riley, B., Sanders, A. R., Schall, U., Schwab, S. G., Scott, R. J., Sham, P. C., Silverman, J. M., Sim, K., Steixner, A. A., Tooney, P. A., van Os, J., Vawter, M. P., Walsh, D., Weiser, M., Wildenauer, D. B., Williams, N. M., Wormley, B. K., Zhang, F., Androutsos, C., Arnold, P. D., Barr, C. L., Barta, C., Bey, K., Bienvenu, O. J., Black, D. W., Brown, L. W., Budman, C., Cath, D., Cheon, K. -A., Ciullo, V., Coffey, B. J., Cusi, D., Davis, L. K., Denys, D., Depienne, C., Dietrich, A., Eapen, V., Falkai, P., Fernandez, T. V., Garcia-Delgar, B., Geller, D. A., Gilbert, D. L., Grados, M. A., Greenberg, E., Grunblatt, E., Hagstrom, J., Hanna, G. L., Hartmann, A., Hedderly, T., Heiman, G. A., Heyman, I., Hong, H. J., Huang, A., Huyser, C., Ibanez-Gomez, L., Khramtsova, E. A., Kim, Y. K., Kim, Y. -S., King, R. A., Koh, Y. -J., Konstantinidis, A., Kook, S., Kuperman, S., Leventhal, B. L., Lochner, C., Ludolph, A. G., Madruga-Garrido, M., Malaty, I., Maras, A., Mccracken, J. T., Meijer, I. A., Mir, P., Morer, A., Muller-Vahl, K. R., Munchau, A., Murphy, T. L., Naarden, A., Nagy, P., Nestadt, G., Nestadt, P. S., Nicolini, H., Nurmi, E. L., Okun, M. S., Paschou, P., Piras, F., Pittenger, C., Plessen, K. J., Richter, M. A., Rizzo, R., Robertson, M., Roessner, V., Ruhrmann, S., Samuels, J. F., Sandor, P., Schlogelhofer, M., Shin, E. -Y., Singer, H., Song, D. -H., Song, J., Spalletta, G., Stein, D. J., Stewart, S. E., Storch, E. A., Stranger, B., Stuhrmann, M., Tarnok, Z., Tischfield, J. A., Tubing, J., Visscher, F., Vulink, N., Wagner, M., Walitza, S., Wanderer, S., Woods, M., Worbe, Y., Zai, G., Zinner, S. H., Sullivan, P. F., Franke, B., Daly, M. J., Bulik, C. M., Mcintosh, A. M., O'Donovan, M. C., Zheutlin, A., Andreassen, O. A., Borglum, A. D., Breen, G., Edenberg, H. J., Fanous, A. H., Faraone, S. V., Gelernter, J., Mathews, C. A., Mattheisen, M., Mitchell, K. S., Neale, M. C., Nurnberger, J. I., Ripke, S., Santangelo, S. L., Scharf, J. M., Stein, M. B., Thornton, L. M., Walters, J. T. R., Wray, N. R., Geschwind, D. H., Neale, B. M., Kendler, K. S., and Smoller, J. W.

Subjects
Netherlands Twin Register (NTR), cross-disorder genetics, Medizin, Genome-wide association study, Tourette syndrome, functional genomics, gene expression, genetic architecture, genetic correlation, GWAS, neurodevelopment, pleiotropy, psychiatric disorders, Psychiatric genetics, 0302 clinical medicine, Pleiotropy, functional genomic, WIDE ASSOCIATION, cross-disorder genetic, 0303 health sciences, Mental Disorders, Genetic Pleiotropy, HUMAN BRAIN, INSIGHTS, Autism spectrum disorder, Schizophrenia, DISEASES, GENETIC CORRELATIONS, medicine.medical_specialty, Neurogenesis, Quantitative Trait Loci, BF, Biology, GENOTYPE IMPUTATION, Psychiatric geneticscross-disorder geneticspsychiatric disorderspleiotropyneurodevelopmentGWASgenetic correlationgene expressiongenetic architecturefunctional genomics, Article, General Biochemistry, Genetics and Molecular Biology, psychiatric disorder, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, Bipolar disorder, TRANSCRIPTOME, Psychiatry, 030304 developmental biology, Gwas, Psychiatric Genetics, Cross-disorder Genetics, Functional Genomics, Gene Expression, Genetic Architecture, Genetic Correlation, Neurodevelopment, Psychiatric Disorders, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, MUTATIONS, medicine.disease, Genetic architecture, DEMETHYLASE, RC0321, 1182 Biochemistry, cell and molecular biology, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.

Published
2019

12. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Author

Sheng Wang, Jeffrey D. Mandell, Yogesh Kumar, Nawei Sun, Montana T. Morris, Juan Arbelaez, Cara Nasello, Shan Dong, Clif Duhn, Xin Zhao, Zhiyu Yang, Shanmukha S. Padmanabhuni, Dongmei Yu, Robert A. King, Andrea Dietrich, Najah Khalifa, Niklas Dahl, Alden Y. Huang, Benjamin M. Neale, Giovanni Coppola, Carol A. Mathews, Jeremiah M. Scharf, Thomas V. Fernandez, Joseph D. Buxbaum, Silvia De Rubeis, Dorothy E. Grice, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield, Peristera Paschou, A. Jeremy Willsey, Matthew W. State, Mohamed Abdulkadir, Benjamin Bodmer, Yana Bromberg, Lawrence W. Brown, Keun-Ah Cheon, Barbara J. Coffey, Li Deng, Lonneke Elzerman, Carolin Fremer, Blanca Garcia-Delgar, Donald L. Gilbert, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Pieter J. Hoekstra, Hyun Ju Hong, Chaim Huyser, Eun-Joo Kim, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett L Leventhal, Andrea G. Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Montana T Morris, Kirsten Müller-Vahl, Alexander Münchau, Tara L. Murphy, Kerstin J. Plessen, Hannah Poisner, Veit Roessner, Stephan J. Sanders, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Joshua K. Thackray, Jennifer Tübing, Frank Visscher, Sina Wanderer, A Jeremy Willsey, Martin Woods, Yeting Zhang, Samuel H. Zinner, Christos Androutsos, Csaba Barta, Luca Farkas, Jakub Fichna, Marianthi Georgitsi, Piotr Janik, Iordanis Karagiannidis, Anastasia Koumoula, Peter Nagy, Joanna Puchala, Renata Rizzo, Natalia Szejko, Urszula Szymanska, Zsanett Tarnok, Vaia Tsironi, Tomasz Wolanczyk, Cezary Zekanowski, Cathy L. Barr, James R. Batterson, Cheston Berlin, Ruth D. Bruun, Cathy L. Budman, Danielle C. Cath, Sylvain Chouinard, Nancy J. Cox, Sabrina Darrow, Lea K. Davis, Yves Dion, Nelson B. Freimer, Marco A. Grados, Matthew E. Hirschtritt, Cornelia Illmann, Roger Kurlan, James F. Leckman, Gholson J. Lyon, Irene A. Malaty, William M. MacMahon, Michael S. Okun, Lisa Osiecki, David L. Pauls, Danielle Posthuma, Vasily Ramensky, Mary M. Robertson, Guy A. Rouleau, Paul Sandor, Harvey S. Singer, Jan Smit, Jae-Hoon Sul, Tourette International Collaborative Genetics Study (TIC Genetics), Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE), Tourette Association of America International Consortium for Genetics (TAAICG), Abdulkadir, M., Arbelaez, J., Bodmer, B., Bromberg, Y., Brown, L.W., Cheon, K.A., Coffey, B.J., Deng, L., Dietrich, A., Dong, S., Duhn, C., Elzerman, L., Fernandez, T.V., Fremer, C., Garcia-Delgar, B., Gilbert, D.L., Grice, D.E., Hagstrøm, J., Hedderly, T., Heiman, G.A., Heyman, I., Hoekstra, P.J., Hong, H.J., Huyser, C., Kim, E.J., Kim, Y.K., Kim, Y.S., King, R.A., Koh, Y.J., Kook, S., Kuperman, S., Leventhal, B.L., Ludolph, A.G., Madruga-Garrido, M., Mandell, J.D., Maras, A., Mir, P., Morer, A., Morris, M.T., Müller-Vahl, K., Münchau, A., Murphy, T.L., Nasello, C., Plessen, K.J., Poisner, H., Roessner, V., Sanders, S.J., Shin, E.Y., Song, D.H., Song, J., State, M.W., Sun, N., Thackray, J.K., Tischfield, J.A., Tübing, J., Visscher, F., Wanderer, S., Wang, S., Willsey, A.J., Woods, M., Xing, J., Zhang, Y., Zhao, X., Zinner, S.H., Androutsos, C., Barta, C., Farkas, L., Fichna, J., Georgitsi, M., Janik, P., Karagiannidis, I., Koumoula, A., Nagy, P., Paschou, P., Puchala, J., Rizzo, R., Szejko, N., Szymanska, U., Tarnok, Z., Tsironi, V., Wolanczyk, T., Zekanowski, C., Barr, C.L., Batterson, J.R., Berlin, C., Bruun, R.D., Budman, C.L., Cath, D.C., Chouinard, S., Coppola, G., Cox, N.J., Darrow, S., Davis, L.K., Dion, Y., Freimer, N.B., Grados, M.A., Hirschtritt, M.E., Huang, A.Y., Illmann, C., Kurlan, R., Leckman, J.F., Lyon, G.J., Malaty, I.A., Mathews, C.A., MacMahon, W.M., Neale, B.M., Okun, M.S., Osiecki, L., Pauls, D.L., Posthuma, D., Ramensky, V., Robertson, M.M., Rouleau, G.A., Sandor, P., Scharf, J.M., Singer, H.S., Smit, J., Sul, J.H., and Yu, D.

Subjects
Adult, Male, 0301 basic medicine, medicine.medical_specialty, DNA Copy Number Variations, Receptors, Cell Surface, Biology, Genome, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RARE, SCHIZOPHRENIA, medicine, Humans, Copy-number variation, Child, NEURODEVELOPMENTAL DISORDERS, Gene, lcsh:QH301-705.5, Exome sequencing, 030304 developmental biology, Medicinsk genetik, Sequence (medicine), Genetics, 0303 health sciences, SEVERE INTELLECTUAL DISABILITY, Cadherin, MUTATIONS, AUTISM SPECTRUM DISORDER, Cell Polarity, OBSESSIVE-COMPULSIVE DISORDER, Cadherins, medicine.disease, Pedigree, PREVALENCE, CONGENITAL HEART-DISEASE, GENOME, 030104 developmental biology, lcsh:Biology (General), Schizophrenia, Medical genetics, Female, Cadherins/genetics, Receptors, Cell Surface/genetics, Tourette Syndrome/genetics, Tourette Syndrome/pathology, TIC Genetics, Tourette disorder, cell polarity, copy number variants, de novo variants, gene discovery, microarray genotyping, multiplex, simplex, whole exome sequencing, Medical Genetics, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

SUMMARY We previously established the contribution of de novo damaging sequence variants to Tourette disorder (TD) through whole-exome sequencing of 511 trios. Here, we sequence an additional 291 TD trios and analyze the combined set of 802 trios. We observe an overrepresentation of de novo damaging variants in simplex, but not multiplex, families; we identify a high-confidence TD risk gene, CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3); we find that the genes mutated in TD patients are enriched for those related to cell polarity, suggesting a common pathway underlying pathobiology; and we confirm a statistically significant excess of de novo copy number variants in TD. Finally, we identify significant overlap of de novo sequence variants between TD and obsessive-compulsive disorder and de novo copy number variants between TD and autism spectrum disorder, consistent with shared genetic risk., In Brief Wang et al. expand their earlier exome-sequencing work in TD, adding 291 trios and conducting combined analyses suggesting de novo variants carry more risk in individuals with unaffected parents, establishing de novo structural variants as risk factors, identifying CELSR3 as a risk gene, and implicating cell polarity in pathogenesis., Graphical Abstract

Published
2018

13. European clinical guidelines for Tourette syndrome and other tic disorders. Part II

Author

Veit, Roessner, Plessen, Kerstin J., Aribert, Rothenberger, Ludolph, Andrea G., Renata, Rizzo, Liselotte, Skov, Gerd, Strand, Stern, Jeremy S., Cristiano, Termine, Hoekstra, Pieter J., Guidelines Group Androutsos, Essts C., Aschauer, H., Baird, G., Bos Veneman, N., Brambilla, A., Cardona, Francesco Carmelo Giovanni, Cath, D. c., Cavanna, A. e., Czernecki, V., Dehning, S., Eapter, A., Farkas, L., Gadaros, J., Hartmann, A., Hauser, E., Heyman, I., Hedderly, T., Hoekstra, P. j., Korsgaard, A., Jackson, G. m., Larsson, L., Ludolph, A. g., Martino, D., Menghetti, C., Mol Debes, N., Muller, N., Muller Vahl, K., Munchau, A., Murphy, T., Musil, R., Nagy, P., Nurnberger, J., Oostra, B., Paschou, P., Pasquini, M., Plessen, K. j., Porta, M., Rickards, H., Rizzo, R., Robertson, M. m., Roessner, V., Rothenberger, A., Servello, D., Skov, L., Stern, J. s., Strand, G., Tarnok, Z., Termine, C., Van Der Griendt, J., Verdellen, C., Visser Vandewalle, V., Wannag, E., Wolanczyck, T., Department of Child and Adolescent Psychiatry, University of Dresden Medical School, Centre for Child and Adolescent Psychiatry at Bispebjerg, Capital Region Psychiatry, Department of Neurology, Psychiatry and Sensory Sciences, Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), University of Göttingen - Georg-August-Universität Göttingen, Universität Ulm - Ulm University [Ulm, Allemagne], Renata Rizzo Child and Adolescent Neurology and Psichiatry, Maternal Infantile and Radiological Sciences Department, Catania University, Department of Pediatrics, Glostrup University Hospital, Norwegian Resource Center for AD/HD, Tourette Syndrome and Narcolepsy, Ullevål University Hospital, St George's Hospital Neurology, Child Neuropsychiatry Unit, Department of Experimental Medicine, Universitá degli Studi dell’Insubria, Department of Psychiatry, University Medical Center Groningen [Groningen] (UMCG), Roessner, V, Plessen, K, Rothenberger, A, Ludolph, A, Rizzo, R, Skov, L, Strand, G, Stern, J, Termine, C, Hoekstra, P, Androutsos, C, Aschauer, H, Baird, G, Bos-Veneman, N, Brambilla, A, Cardona, F, Cath, D, Cavanna, A, Czernecki, V, Dehning, S, Eapter, A, Farkas, L, Gadaros, J, Hartmann, A, Hauser, E, Heyman, I, Hedderly, T, Korsgaard, A, Jackson, G, Larsson, L, Martino, D, Menghetti, C, Debes, N, Muller, N, Muller-Vahl, K, Munchau, A, Murphy, T, Musil, R, Nagy, P, Nurnberger, J, Oostra, B, Paschou, P, Pasquini, M, Porta, M, Rickards, H, Robertson, M, Servello, D, Tarnok, Z, Van Der Griendt, J, Verdellen, C, Visser-Vandewalle, V, Wannag, E, Wolanczyck, T, Neurochirurgie, and RS: MHeNs School for Mental Health and Neuroscience

Subjects
Placebo-controlled study, Pharmacologic, Guideline, PLACEBO-CONTROLLED TRIAL, Tourette syndrome, Pharmacologic treatment, DOUBLE-BLIND, 0302 clinical medicine, DEFICIT-HYPERACTIVITY DISORDER, Developmental and Educational Psychology, SIMPLE MOTOR TICS, Tic, Tourette, Assessment, ATTENTION-DEFICIT/HYPERACTIVITY DISORDER, LONG-TERM TREATMENT, General Medicine, 3. Good health, Europe, Psychiatry and Mental health, TRANSDERMAL NICOTINE, Tics, BOTULINUM TOXIN INJECTION, Psychology, guidelines, pharmacologic, tics, tourette, treatment, Antipsychotic Agents, medicine.medical_specialty, MEDLINE, Habit reversal training, RETROSPECTIVE CASE-NOTE, Guidelines, Article, 03 medical and health sciences, Tourette, Treatment, medicine, Humans, Medicine & Public Health, Psychiatry, Pediatrics, Perinatology, and Child Health, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Tic, Evidence-based medicine, OBSESSIVE-COMPULSIVE DISORDER, medicine.disease, 030227 psychiatry, Tic Disorders, Treatment of Tourette syndrome, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

International audience; To develop a European guideline on pharmacologic treatment of Tourette syndrome (TS) the available literature was thoroughly screened and extensively discussed by a working group of the European Society for the Study of Tourette syndrome (ESSTS). Although there are many more studies on pharmacotherapy of TS than on behavioral treatment options, only a limited number of studies meets rigorous quality criteria. Therefore, we have devised a two-stage approach. First, we present the highest level of evidence by reporting the findings of existing Cochrane reviews in this field. Subsequently, we provide the first comprehensive overview of all reports on pharmacological treatment options for TS through a MEDLINE, PubMed, and EMBASE search for all studies that document the effect of pharmacological treatment of TS and other tic disorders between 1970 and November 2010. We present a summary of the current consensus on pharmacological treatment options for TS in Europe to guide the clinician in daily practice. This summary is, however, rather a status quo of a clinically helpful but merely low evidence guideline, mainly driven by expert experience and opinion, since rigorous experimental studies are scarce.

Published
2011

14. Synthetic data generation methods in healthcare: A review on open-source tools and methods.

Author

Pezoulas VC, Zaridis DI, Mylona E, Androutsos C, Apostolidis K, Tachos NS, and Fotiadis DI

Abstract

Synthetic data generation has emerged as a promising solution to overcome the challenges which are posed by data scarcity and privacy concerns, as well as, to address the need for training artificial intelligence (AI) algorithms on unbiased data with sufficient sample size and statistical power. Our review explores the application and efficacy of synthetic data methods in healthcare considering the diversity of medical data. To this end, we systematically searched the PubMed and Scopus databases with a great focus on tabular, imaging, radiomics, time-series, and omics data. Studies involving multi-modal synthetic data generation were also explored. The type of method used for the synthetic data generation process was identified in each study and was categorized into statistical, probabilistic, machine learning, and deep learning. Emphasis was given to the programming languages used for the implementation of each method. Our evaluation revealed that the majority of the studies utilize synthetic data generators to: (i) reduce the cost and time required for clinical trials for rare diseases and conditions, (ii) enhance the predictive power of AI models in personalized medicine, (iii) ensure the delivery of fair treatment recommendations across diverse patient populations, and (iv) enable researchers to access high-quality, representative multimodal datasets without exposing sensitive patient information, among others. We underline the wide use of deep learning based synthetic data generators in 72.6 % of the included studies, with 75.3 % of the generators being implemented in Python. A thorough documentation of open-source repositories is finally provided to accelerate research in the field., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 The Authors. Published by Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology.)

Published
2024
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15. Evaluating Gait Impairment in Parkinson's Disease from Instrumented Insole and IMU Sensor Data.

Author

Tsakanikas V, Ntanis A, Rigas G, Androutsos C, Boucharas D, Tachos N, Skaramagkas V, Chatzaki C, Kefalopoulou Z, Tsiknakis M, and Fotiadis D

Subjects
Humans, Gait, Shoes, Physical Therapy Modalities, Parkinson Disease diagnosis, Wearable Electronic Devices
Abstract

Parkinson's disease (PD) is characterized by a variety of motor and non-motor symptoms, some of them pertaining to gait and balance. The use of sensors for the monitoring of patients' mobility and the extraction of gait parameters, has emerged as an objective method for assessing the efficacy of their treatment and the progression of the disease. To that end, two popular solutions are pressure insoles and body-worn IMU-based devices, which have been used for precise, continuous, remote, and passive gait assessment. In this work, insole and IMU-based solutions were evaluated for assessing gait impairment, and were subsequently compared, producing evidence to support the use of instrumentation in everyday clinical practice. The evaluation was conducted using two datasets, generated during a clinical study, in which patients with PD wore, simultaneously, a pair of instrumented insoles and a set of wearable IMU-based devices. The data from the study were used to extract and compare gait features, independently, from the two aforementioned systems. Subsequently, subsets comprised of the extracted features, were used by machine learning algorithms for gait impairment assessment. The results indicated that insole gait kinematic features were highly correlated with those extracted from IMU-based devices. Moreover, both had the capacity to train accurate machine learning models for the detection of PD gait impairment.

Published
2023
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16. A User-Centric approach for Personalization based on Human Activity Recognition.

Author

Boucharas DG, Androutsos C, Tachos NS, Tripoliti EE, Manousos D, Jensen PS, Torre LC, Tsiknakis M, and Fotiadis DI

Subjects
Bayes Theorem, Humans, Walking, Human Activities, Recognition, Psychology
Abstract

The objective of this work focuses on multiple independent user profiles that capture behavioral, emotional, medical, and physical patterns in the working and living environment resulting in one general user profile. Depending on the user's current activity (e.g. walking, eating, etc.), medical history, and other influential factors, the developed framework acts as a supplemental assistant to the user by providing not only the ability to enable supportive functionalities (e.g. image filtering, magnification, etc.) but also informative recommendations (e.g. diet, alcohol, etc.). The personalization of such a profile lies within the user's past preferences using human activity recognition as a base, and it is achieved through a statistical model, the Bayesian belief network. Training and real-time methodological pipelines are introduced and validated. The employed deep learning techniques for identifying human activities are presented and validated in publicly available and in-house datasets. The overall accuracy of human activity recognition reaches up to 86.96 %.

Published
2022
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17. Real Time Human Activity Recognition Using Acceleration and First-Person Camera data.

Author

Androutsos C, Tachos NS, Tripoliti EE, Karatzanis I, Manousos D, Tsiknakis M, and Fotiadis DI

Subjects
Human Activities, Humans, Recognition, Psychology, Sitting Position, Acceleration, Walking
Abstract

The aim of this work is to present an automated method, working in real time, for human activity recognition based on acceleration and first-person camera data. A Long-Short-Term-Memory (LSTM) model has been built for recognizing locomotive activities (i.e. walking, sitting, standing, going upstairs, going downstairs) from acceleration data, while a ResNet model is employed for the recognition of stationary activities (i.e. eating, reading, writing, watching TV working on PC). The outcomes of the two models are fused in order for the final decision, regarding the performed activity, to be made. For the training, testing and evaluation of the proposed models, a publicly available dataset and an "in-house" dataset are utilized. The overall accuracy of the proposed algorithmic pipeline reaches 87.8%.

Published
2021
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18. Association of Genetic Variation in the 3'UTR of LHX6, IMMP2L, and AADAC With Tourette Syndrome.

Author

Pagliaroli L, Vereczkei A, Padmanabhuni SS, Tarnok Z, Farkas L, Nagy P, Rizzo R, Wolanczyk T, Szymanska U, Kapisyzi M, Basha E, Koumoula A, Androutsos C, Tsironi V, Karagiannidis I, Paschou P, and Barta C

Abstract

Background: Tourette Syndrome (TS) is a neurodevelopmental disorder that presents with motor and vocal tics early in childhood. The aim of this study was to investigate genetic variants in the 3' untranslated region (3'UTR) of TS candidate genes with a putative link to microRNA (miRNA) mediated regulation or gene expression. Methods: We used an in silico approach to identify 32 variants in the 3'UTR of 18 candidate genes putatively changing the binding site for miRNAs. In a sample composed of TS cases and controls ( n = 290), as well as TS family trios ( n = 148), we performed transmission disequilibrium test (TDT) and meta-analysis. Results: We found positive association of rs3750486 in the LIM homeobox 6 (LHX6) gene ( p = 0.021) and rs7795011 in the inner mitochondrial membrane peptidase subunit 2 (IMMP2L) gene ( p = 0.029) with TS in our meta-analysis. The TDT showed an over-transmission of the A allele of rs1042201 in the arylacetamide deacetylase (AADAC) gene in TS patients ( p = 0.029). Conclusion: This preliminary study provides further support for the involvement of LHX6, IMMP2L, and AADAC genes, as well as epigenetic mechanisms, such as altered miRNA mediated gene expression regulation in the etiology of TS., (Copyright © 2020 Pagliaroli, Vereczkei, Padmanabhuni, Tarnok, Farkas, Nagy, Rizzo, Wolanczyk, Szymanska, Kapisyzi, Basha, Koumoula, Androutsos, Tsironi, Karagiannidis, Paschou and Barta.)

Published
2020
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19. Targeted Re-Sequencing Approach of Candidate Genes Implicates Rare Potentially Functional Variants in Tourette Syndrome Etiology.

Author

Alexander J, Potamianou H, Xing J, Deng L, Karagiannidis I, Tsetsos F, Drineas P, Tarnok Z, Rizzo R, Wolanczyk T, Farkas L, Nagy P, Szymanska U, Androutsos C, Tsironi V, Koumoula A, Barta C, Sandor P, Barr CL, Tischfield J, Paschou P, Heiman GA, and Georgitsi M

Abstract

Although the genetic basis of Tourette Syndrome (TS) remains unclear, several candidate genes have been implicated. Using a set of 382 TS individuals of European ancestry we investigated four candidate genes for TS ( HDC, SLITRK1, BTBD9 , and SLC6A4 ) in an effort to identify possibly causal variants using a targeted re-sequencing approach by next generation sequencing technology. Identification of possible disease causing variants under different modes of inheritance was performed using the algorithms implemented in VAAST. We prioritized variants using Variant ranker and validated five rare variants via Sanger sequencing in HDC and SLITRK1 , all of which are predicted to be deleterious. Intriguingly, one of the identified variants is in linkage disequilibrium with a variant that is included among the top hits of a genome-wide association study for response to citalopram treatment, an antidepressant drug with off-label use also in obsessive compulsive disorder. Our findings provide additional evidence for the implication of these two genes in TS susceptibility and the possible role of these proteins in the pathobiology of TS should be revisited.

Published
2016
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21. Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families.

Author

Karagiannidis I, Dehning S, Sandor P, Tarnok Z, Rizzo R, Wolanczyk T, Madruga-Garrido M, Hebebrand J, Nöthen MM, Lehmkuhl G, Farkas L, Nagy P, Szymanska U, Anastasiou Z, Stathias V, Androutsos C, Tsironi V, Koumoula A, Barta C, Zill P, Mir P, Müller N, Barr C, and Paschou P

Subjects
Cohort Studies, Genetic Association Studies, Haplotypes, Humans, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Tourette Syndrome enzymology, Histidine Decarboxylase genetics, Tourette Syndrome genetics
Abstract

Background: Gilles de la Tourette Syndrome is a neurodevelopmental disorder that is caused by the interaction of environment with a complex genetic background. The genetic etiology of the disorder remains, so far, elusive, although multiple promising leads have been recently reported. The recent implication of the histamine decarboxylase (HDC) gene, the key enzyme in histamine production, raises the intriguing hypothesis of a possible role of histaminergic dysfunction leading to TS onset., Methods: Following up on the finding of a nonsense mutation in a single family with TS, we investigated variation across the HDC gene for association with TS. As a result of a collaborative international effort, we studied a large sample of 520 nuclear families originating from seven European populations (Greek, Hungarian, Italian, Polish, German, Albanian, Spanish) as well as a sample collected in Canada., Results and Conclusions: Interrogating 12 tagging SNPs (tSNP) across the HDC region, we find strong over-transmission of alleles at two SNPs (rs854150 and rs1894236) in the complete sample, as well as a statistically significant associated haplotypes. Analysis of individual populations also reveals signals of association in the Canadian, German and Italian samples. Our results provide strong support for the histaminergic hypothesis in TS etiology and point to a possible role of histamine pathways in neuronal development.

Published
2013
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22. Structural brain correlates of response inhibition in Bipolar Disorder I.

Author

Haldane M, Cunningham G, Androutsos C, and Frangou S

Subjects
Adolescent, Adult, Attention physiology, Brain Mapping, Color Perception physiology, Conflict, Psychological, Discrimination Learning physiology, Dominance, Cerebral physiology, Female, Frontal Lobe pathology, Humans, Male, Middle Aged, Neuropsychological Tests, Parietal Lobe pathology, Prefrontal Cortex pathology, Semantics, Bipolar Disorder physiopathology, Frontal Lobe physiopathology, Image Processing, Computer-Assisted, Inhibition, Psychological, Magnetic Resonance Imaging, Parietal Lobe physiopathology, Prefrontal Cortex physiopathology
Abstract

Deficits in response inhibition are a prominent feature of Bipolar Disorder, type I (BDI). The purpose of this study was to examine the relationship between inhibitory control and cerebral structure as it may inform our understanding of the pathophysiology of BDI. Inhibitory control was measured in remitted patients with BDI (n = 44) and healthy controls (n = 44), using the interference score from the Stroop Colour Word Task and the scaled total error score from the Hayling Sentence Completion Test. Structural magnetic resonance imaging brain scans were also obtained for all participants. For both measures, better performance in controls correlated positively with gray matter volume in the dorsal and ventral prefrontal cortical (PFC) regions with parietal involvement additionally seen for the interference score. In contrast, better inhibitory control in BDI patients correlated positively with gray matter volume in the right parietal cortical regions, namely the cuneus for the scaled total error score and the inferior parietal lobule for the interference score. The observed lack of correlation between PFC grey matter and measures of inhibitory control in BDI patients is suggestive of PFC dysfunction; the correlation between response inhibition and parietal grey matter volume may be indicative of a compensatory involvement of the parietal cortices in BDI.

Published
2008
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