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137 results on '"Hedderly, T."'

1. The ESSTS (European Society for the Study of Tourette Syndrome) 2022 Criteria for Clinical Diagnosis of Functional Tic Like Behaviours (FTLBs): An international consensus from experts in tic disorders

Author

Pringsheim, T, Ganos, C, Nilles, C, Cavanna, A, Gilbert, D, Greenburg, E, Hartmann, A, Hedderly, T, Heyman, I, Liang, H, Malaty, I, Malik, O, Debes, N, Vahl, K, Munchau, A, Murphy, T, Nagy, P, Owen, T, Rizzo, R, Skov, L, Stern, J, Szejko, N, Worbe, Y, Martino, D, Pringsheim T, Ganos C, Nilles C, Cavanna A, Gilbert DL, Greenburg E, Hartmann A, Hedderly T, Heyman I, Liang H, Malaty I, Malik O, Debes NM, Vahl KM, Munchau A, Murphy T, Nagy P, Owen T, Rizzo R, Skov L, Stern J, Szejko N, Worbe Y, Martino D, Pringsheim, T, Ganos, C, Nilles, C, Cavanna, A, Gilbert, D, Greenburg, E, Hartmann, A, Hedderly, T, Heyman, I, Liang, H, Malaty, I, Malik, O, Debes, N, Vahl, K, Munchau, A, Murphy, T, Nagy, P, Owen, T, Rizzo, R, Skov, L, Stern, J, Szejko, N, Worbe, Y, Martino, D, Pringsheim T, Ganos C, Nilles C, Cavanna A, Gilbert DL, Greenburg E, Hartmann A, Hedderly T, Heyman I, Liang H, Malaty I, Malik O, Debes NM, Vahl KM, Munchau A, Murphy T, Nagy P, Owen T, Rizzo R, Skov L, Stern J, Szejko N, Worbe Y, and Martino D

Abstract

Background and purpose: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic-like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic-like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. Methods: We used a formal consensus development process, using a multiround, web-based Delphi survey. The survey was based on an in-person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. Results: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. Conclusions: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity.

Published
2023

2. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Author

Jain, P., Miller-Fleming, T., Topaloudi, A., Yu, D., Drineas, P., Georgitsi, M., Yang, Z, Rizzo, R., Müller-Vahl, K.R., Tumer, Z., Debes, N. Mol, Hartmann, A., Depienne, C., Worbe, Y., Mir, P., Cath, D.C., Boomsma, D.I., Roessner, V., Wolanczyk, T., Janik, P., Szejko, N., Zekanowski, C., Barta, C., Nemoda, Z., Tarnok, Z., Buxbaum, J.D., Grice, D., Glennon, J., Stefansson, H., Hengerer, B., Benaroya-Milshtein, N., Cardona, F., Hedderly, T., Heyman, I., Huyser, C., Morer, A., Mueller, N., Munchau, A., Plessen, K.J., Porcelli, C., Walitza, S., Schrag, A., Martino, D. de, Dietrich, A., Mathews, Carol A., Scharf, J.M., Hoekstra, P.J., Buitelaar, J.K., Davis, L.K., Paschou, P., Jain, P., Miller-Fleming, T., Topaloudi, A., Yu, D., Drineas, P., Georgitsi, M., Yang, Z, Rizzo, R., Müller-Vahl, K.R., Tumer, Z., Debes, N. Mol, Hartmann, A., Depienne, C., Worbe, Y., Mir, P., Cath, D.C., Boomsma, D.I., Roessner, V., Wolanczyk, T., Janik, P., Szejko, N., Zekanowski, C., Barta, C., Nemoda, Z., Tarnok, Z., Buxbaum, J.D., Grice, D., Glennon, J., Stefansson, H., Hengerer, B., Benaroya-Milshtein, N., Cardona, F., Hedderly, T., Heyman, I., Huyser, C., Morer, A., Mueller, N., Munchau, A., Plessen, K.J., Porcelli, C., Walitza, S., Schrag, A., Martino, D. de, Dietrich, A., Mathews, Carol A., Scharf, J.M., Hoekstra, P.J., Buitelaar, J.K., Davis, L.K., and Paschou, P.

Abstract

Contains fulltext : 291641.pdf (Publisher’s version ) (Open Access), Tourette Syndrome (TS) is a complex neurodevelopmental disorder characterized by vocal and motor tics lasting more than a year. It is highly polygenic in nature with both rare and common previously associated variants. Epidemiological studies have shown TS to be correlated with other phenotypes, but large-scale phenome wide analyses in biobank level data have not been performed to date. In this study, we used the summary statistics from the latest meta-analysis of TS to calculate the polygenic risk score (PRS) of individuals in the UK Biobank data and applied a Phenome Wide Association Study (PheWAS) approach to determine the association of disease risk with a wide range of phenotypes. A total of 57 traits were found to be significantly associated with TS polygenic risk, including multiple psychosocial factors and mental health conditions such as anxiety disorder and depression. Additional associations were observed with complex non-psychiatric disorders such as Type 2 diabetes, heart palpitations, and respiratory conditions. Cross-disorder comparisons of phenotypic associations with genetic risk for other childhood-onset disorders (e.g.: attention deficit hyperactivity disorder [ADHD], autism spectrum disorder [ASD], and obsessive-compulsive disorder [OCD]) indicated an overlap in associations between TS and these disorders. ADHD and ASD had a similar direction of effect with TS while OCD had an opposite direction of effect for all traits except mental health factors. Sex-specific PheWAS analysis identified differences in the associations with TS genetic risk between males and females. Type 2 diabetes and heart palpitations were significantly associated with TS risk in males but not in females, whereas diseases of the respiratory system were associated with TS risk in females but not in males. This analysis provides further evidence of shared genetic and phenotypic architecture of different complex disorders.

Published
2023

3. Authors' reply regarding "On diagnosing and treating PANS/ PANDAS: questions from a patient support group"

Author

Pfeiffer, HCV, primary, De Visscher, C, additional, Gjone, H, additional, Ygberg, S, additional, Herner, LB, additional, Hesselmark, E, additional, Idring Nordstrom, S, additional, Sandvig, I, additional, Skov, L, additional, Sørensen, CB, additional, Lim, M, additional, Wickstrom, R, additional, Hedderly, T, additional, and Debes, NM, additional

Published
2021
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4. European Multicentre Tics in Children Studies (EMTICS)

Author

Schrag, A, Martino, D, Apter, A, Ball, J, Bartolini, E, Benaroya-Milshtein, N, Buttiglione, M, Cardona, F, Creti, R, Efstratiou, A, Gariup, M, Georgitsi, M, Hedderly, T, Heyman, I, Margarit, I, Mir, P, Moll, N, Morer, A, Müller, N, Müller-Vahl, K, Münchau, A, Orefici, G, Plessen, Kj, Porcelli, C, Paschou, P, Rizzo, R, Roessner, V, Schwarz, Mj, Steinberg, T, Tagwerker Gloor, F, Tarnok, Z, Walitza, S, Dietrich, A, Hoekstra, Pj, Zacharias, Anastasiou, Isobel, Heyman, Chaim, Huyser, Marcos, Madruga, Pablo, Mir, Astrid, Morer, Nanette Mol Debes, Natalie, Moll, Norbert Mu ̈ller, Peter, Nagy, Kerstin Jessica Plessen, Cesare, Porcelli, Renata, Rizzo, Veit, Roessner, Jaana, Schnell, Liselotte, Skov, Zsanett, Tarnok, Susanne, Walitza, Andrea, Dietrich, Baglioni, Valentina, Juliane, Ball, Emese, Bognar, Bianka, Burger, Judith, Buse, Marta Correa Vela, Maria Cristina Ferro, Carolin, Fremer, Mariangela, Gulisano, Annelieke, Hagen, Julie, Hagstrøm, Anna, Marotta, Neri, Valeria, Thaïra J, C Openneer, Pellico, Alessandra, Kerstin, J Plessen, Daphna, Ruhrman, Jaana M, L Schnell, Silvestri, PAOLA ROSARIA, Tamar, Steinberg, Friederike Tagwerker Gloor, Elif, Weidinger, EMTICS Collaborative Group, Anastasiou, Z., Apter, A., Baglioni, V., Ball, J., Bartolini, E., Benaroya-Milshtein, N., Bodmer, B., Bognar, E., Burger, B., Buse, J., Buttiglione, M., Cardona, F., Correa Vela, M., Creti, R., Dietrich, A., Debes, N.M., Efstratiou, A., Ferro, M.C., Fremer, C., Garcia-Delgar, B., Gariup, M., Georgitsi, M., Gulisano, M., Hagen, A., Hagstrøm, J., Hedderly, T.J., Heyman, I., Hoekstra, P.J., Huyser, C., Imperi, M., Karagiannidis, I., Laviola, G., Macri, S., Madruga-Garrido, M., Margarit, I., Marotta, A., Martino, D., Meier, U.C., Mir, P., Moll, N., Morer, A., Müller, N., Müller-Vahl, K., Münchau, A., Nagy, P., Neri, V., Openneer, TJC, Orefici, G., Paschou, P., Pellico, A., Petruzzelli, O., Plessen, K.J., Porcelli, C., Redondo, M., Rizzo, R., Roazzi, P., Roessner, V., Ruhrman, D., Schnell, JML, Schrag, A., Schütze, G.A., Schwarz, M.J., Silvestri, P.R., Skov, L., Steinberg, T., Stöber, S., Gloor, F.T., Tallon, M., Tarnok, Z., Turner, V.L., Walitza, S., Weidinger, E., Woods, M.L., European Commission, National Institute for Health Research (UK), NIHR Biomedical Research Centre (UK), University College London, NHS Foundation Trust, GlaxoSmithKline, German Research Foundation, Instituto de Biomedicina de Sevilla (IBIS), and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
Male, Pediatrics, Tic disorder, BLOOD, Tourette syndrome, Obsessive–compulsive disorder, Cohort Studies, 0302 clinical medicine, Risk Factors, QUALITY-OF-LIFE, Obsessive-compulsive disorder, Developmental and Educational Psychology, Genetics, Longitudinal, Streptococcal infection, Stress, Prospective cohort study, Child, GENE-EXPRESSION, education.field_of_study, HAIR CORTISOL, 05 social sciences, A STREPTOCOCCAL INFECTIONS, Original Contribution, General Medicine, 3. Good health, Europe, Psychiatry and Mental health, LA-TOURETTE SYNDROME, Child, Preschool, NEUROPSYCHIATRIC DISORDERS, Cohort, Female, 050104 developmental & child psychology, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Tics, Adolescent, PSYCHOSOCIAL STRESS, Population, 03 medical and health sciences, mental disorders, medicine, Humans, 0501 psychology and cognitive sciences, Genetic Predisposition to Disease, education, Tic Disorders/complications, Tic Disorders/diagnosis, Tic Disorders/pathology, business.industry, OBSESSIVE-COMPULSIVE DISORDER, medicine.disease, 030227 psychiatry, nervous system diseases, body regions, PSYCHOMETRIC PROPERTIES, Tic Disorders, Pediatrics, Perinatology and Child Health, Chronic Tic Disorder, business, human activities
Abstract

EMTICS Collaborative Group., Genetic predisposition, autoimmunity and environmental factors [e.g. pre- and perinatal difficulties, Group A Streptococcal (GAS) and other infections, stress-inducing events] might interact to create a neurobiological vulnerability to the development of tics and associated behaviours. However, the existing evidence for this relies primarily on small prospective or larger retrospective population-based studies, and is therefore still inconclusive. This article describes the design and methodology of the EMTICS study, a longitudinal observational European multicentre study involving 16 clinical centres, with the following objectives: (1) to investigate the association of environmental factors (GAS exposure and psychosocial stress, primarily) with the onset and course of tics and/or obsessive–compulsive symptoms through the prospective observation of at-risk individuals (ONSET cohort: 260 children aged 3–10 years who are tic-free at study entry and have a first-degree relative with a chronic tic disorder) and affected individuals (COURSE cohort: 715 youth aged 3–16 years with a tic disorder); (2) to characterise the immune response to microbial antigens and the host’s immune response regulation in association with onset and exacerbations of tics; (3) to increase knowledge of the human gene pathways influencing the pathogenesis of tic disorders; and (4) to develop prediction models for the risk of onset and exacerbations of tic disorders. The EMTICS study is, to our knowledge, the largest prospective cohort assessment of the contribution of different genetic and environmental factors to the risk of developing tics in putatively predisposed individuals and to the risk of exacerbating tics in young individuals with chronic tic disorders., This project has received funding from the European Union’s Seventh Framework Programme for research, technological development and demonstration under Grant agreement no. 278367. Schrag was supported by the National Institute for Health Research UCLH Biomedical Research Centre, and Müller, Burger, Schnell and Weidinger by Stiftung Immunität und Seele. This research was supported by the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London (Heyman); partially sponsored by GSK Vaccines (Margarit, Bartolini); and Deutsche Forschungsgemeinschaft (DFG): projects 1692/3-1, 4-1 (Münchau).

Published
2019

18. Refractoriness to pharmacological treatment for tics: A multicenter European audit

Author

Macerollo, A, Martino, D, Cavanna, A, Gulisano, M, Hartmann, A, Hoekstra, P, Hedderly, T, Debes, N, Muller-Vahl, K, Neuner, I, Porta, M, Rickards, H, Rizzo, R, Cardona, F, Roessner, V, Macerollo A, Martino D, Cavanna A, Gulisano M, Hartmann A, Hoekstra PJ, Hedderly T, Debes NM, Muller-Vahl K, Neuner I, Porta M, Rickards H, Rizzo R, Cardona F, Roessner V, Macerollo, A, Martino, D, Cavanna, A, Gulisano, M, Hartmann, A, Hoekstra, P, Hedderly, T, Debes, N, Muller-Vahl, K, Neuner, I, Porta, M, Rickards, H, Rizzo, R, Cardona, F, Roessner, V, Macerollo A, Martino D, Cavanna A, Gulisano M, Hartmann A, Hoekstra PJ, Hedderly T, Debes NM, Muller-Vahl K, Neuner I, Porta M, Rickards H, Rizzo R, Cardona F, and Roessner V

Published
2016

19. Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

Author

Abdulkadir, M, Londono, D, Gordon, D, Fernandez, TV, Brown, L W, Cheon, K A, Coffey, B J, Elzerman, L, Fremer, C, Frundt, O, Garcia-Delgar, B, Gilbert, DL, Grice, DE, Hedderly, T, Heyman, I, Hong, H J, Huyser, C, Ibanez-Gomez, L, Jakubovski, E, Kim, YK, Kim, YS, Koh, Y J, Kook, S, Kuperman, S, Leventhal, B, Ludolph, AG, Madruga-Garrido, M, Maras, Athanasios, Mir, P, Morer, A, Muller-Vahl, K, Munchau, A, Murphy, T L, Plessen, KJ, Roessner, V, Shin, E Y, Song, D H, Song, J, Tubing, J, van den Ban, E, Visscher, F, Wanderer, S, Woods, M, Zinner, S H, King, RA, Tischfield, JA, Heiman, GA, Hoekstra, PJ, Dietrich, A, Abdulkadir, M, Londono, D, Gordon, D, Fernandez, TV, Brown, L W, Cheon, K A, Coffey, B J, Elzerman, L, Fremer, C, Frundt, O, Garcia-Delgar, B, Gilbert, DL, Grice, DE, Hedderly, T, Heyman, I, Hong, H J, Huyser, C, Ibanez-Gomez, L, Jakubovski, E, Kim, YK, Kim, YS, Koh, Y J, Kook, S, Kuperman, S, Leventhal, B, Ludolph, AG, Madruga-Garrido, M, Maras, Athanasios, Mir, P, Morer, A, Muller-Vahl, K, Munchau, A, Murphy, T L, Plessen, KJ, Roessner, V, Shin, E Y, Song, D H, Song, J, Tubing, J, van den Ban, E, Visscher, F, Wanderer, S, Woods, M, Zinner, S H, King, RA, Tischfield, JA, Heiman, GA, Hoekstra, PJ, and Dietrich, A

Published
2018

20. 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

21. 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

24. 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

25. 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

26. 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

27. 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

28. Refractoriness to pharmacological treatment for tics: A multicentre European audit

Author

Macerollo, A., primary, Martino, D., additional, Cavanna, A.E., additional, Gulisano, M., additional, Hartmann, A., additional, Hoekstra, P.J., additional, Hedderly, T., additional, Debes, N.M., additional, Muller-Vahl, K., additional, Neuner, I., additional, Porta, M., additional, Rickards, H., additional, Rizzo, R., additional, Cardona, F., additional, and Roessner, V., additional

Published
2016
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29. 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

33. Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

Author

Hacohen, Y., primary, Wright, S., additional, Waters, P., additional, Agrawal, S., additional, Carr, L., additional, Cross, H., additional, De Sousa, C., additional, DeVile, C., additional, Fallon, P., additional, Gupta, R., additional, Hedderly, T., additional, Hughes, E., additional, Kerr, T., additional, Lascelles, K., additional, Lin, J.-P., additional, Philip, S., additional, Pohl, K., additional, Prabahkar, P., additional, Smith, M., additional, Williams, R., additional, Clarke, A., additional, Hemingway, C., additional, Wassmer, E., additional, Vincent, A., additional, and Lim, M. J., additional

Published
2012
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34. 1624 Myoclonus dystonia: a clinical and genetic description: Table 1

Author

Peall, K, primary, Waite, A J, additional, Kurian, M A, additional, Hedderly, T, additional, Smith, M, additional, Lin, J P, additional, Warner, T T, additional, Pall, H, additional, Chinnery, P, additional, Whone, A, additional, Owen, M J, additional, Blake, D J, additional, and Morris, H R, additional

Published
2012
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42. O3-4 The incidence of childhood stroke

Author

Mallick, A.A., primary, Kirkham, F.J., additional, Hedderly, T., additional, Ganesan, V., additional, Fallon, P., additional, McShane, M.A., additional, Parker, A.P., additional, Wassmer, E., additional, Wraige, E., additional, and O'Callaghan, F.J.K., additional

Published
2009
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46. Parenting interventions in Tic Disorders: An exploration of parents' perspectives

Author

Evans G, Anja Wittkowski, Butler H, Hedderly T, and Bunton P

Subjects
Adult, Male, Parents, Parenting, Child Welfare, Humans, Social Support, Female, Child, Stress, Psychological, Program Evaluation, Tourette Syndrome
Abstract

Parents of children with tic disorders (e.g. Tourette syndrome) experience multiple challenges and stresses, which can impact on family functioning, children's well-being and could indirectly affect tic severity. Parenting interventions have been recommended for tic disorder populations; however, little is known about parents' views.The views of parents of children with tic disorders were sought. Using Q-methodology, 23 parents provided their opinions regarding the acceptability, effectiveness, feasibility and utility of parenting interventions.Four factors emerged, representing four groups of parents with similar opinions. Although all factors evidenced support for parenting interventions, subtle differences emerged between factors regarding the endorsed content, barriers and delivery of interventions.Results indicate a perceived clinical need for parenting interventions and provide guidance to further develop and implement such interventions.

48. 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. 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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. 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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. 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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

49. European Society for the Study of Tourette Syndrome 2022 criteria for clinical diagnosis of functional tic-like behaviours: International consensus from experts in tic disorders

Author

Tamara Pringsheim, Christos Ganos, Christelle Nilles, Andrea E. Cavanna, Donald L. Gilbert, Erica Greenberg, Andreas Hartmann, Tammy Hedderly, Isobel Heyman, Holan Liang, Irene Malaty, Osman Malik, Nanette Mol Debes, Kirsten Muller Vahl, Alexander Munchau, Tara Murphy, Peter Nagy, Tamsin Owen, Renata Rizzo, Liselotte Skov, Jeremy Stern, Natalia Szejko, Yulia Worbe, Davide Martino, Pringsheim, T, Ganos, C, Nilles, C, Cavanna, A, Gilbert, D, Greenburg, E, Hartmann, A, Hedderly, T, Heyman, I, Liang, H, Malaty, I, Malik, O, Debes, N, Vahl, K, Munchau, A, Murphy, T, Nagy, P, Owen, T, Rizzo, R, Skov, L, Stern, J, Szejko, N, Worbe, Y, and Martino, D

Subjects
tic, Neurology, Tourette syndrome, functional neurological disorder, tics, Neurology (clinical)
Abstract

Background and purpose: In 2020, health professionals witnessed a dramatic increase in referrals of young people with rapid onset of severe tic-like behaviours. We assembled a working group to develop criteria for the clinical diagnosis of functional tic-like behaviours (FTLBs) to help neurologists, pediatricians, psychiatrists, and psychologists recognize and diagnose this condition. Methods: We used a formal consensus development process, using a multiround, web-based Delphi survey. The survey was based on an in-person discussion at the European Society for the Study of Tourette Syndrome (ESSTS) meeting in Lausanne in June 2022. Members of an invited group with extensive clinical experience working with patients with Tourette syndrome and FTLBs discussed potential clinical criteria for diagnosis of FTLBs. An initial set of criteria were developed based on common clinical experiences and review of the literature on FTLBs and revised through iterative discussions, resulting in the survey items for voting. Results: In total, 24 members of the working group were invited to participate in the Delphi process. We propose that there are three major criteria and two minor criteria to support the clinical diagnosis of FTLBs. A clinically definite diagnosis of FTLBs can be confirmed by the presence of all three major criteria. A clinically probable diagnosis of FTLBs can be confirmed by the presence of two major criteria and one minor criterion. Conclusions: Distinguishing FTLBs from primary tics is important due to the distinct treatment paths required for these two conditions. A limitation of the ESSTS 2022 criteria is that they lack prospective testing of their sensitivity and specificity.

Published
2023

50. Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree

Author

Andrew McQuillin, Dongmei Yu, Jeremiah M. Scharf, Poorva Mudgal, Matthew Halvorsen, David Mataix-Cols, James J. Crowley, Mary M. Robertson, Ashley E. Nordsletten, Manuel Mattheisen, Jin P. Szatkiewicz, Carol A. Mathews, Psychiatric Genomics Consortium TS/OCD Working Group, Aschauer, H., Atzmon, G., Barr, C., Barta, C., Barzilai, N., Batterson, J., Berlin, C., Bodmer, B., Bohnenpoll, J., Brown, L., Bruun, R., Buckner, R., Budman, C., Cath, D., Cheon, K.A., Chouinard, S., Coffey, B., Coppola, G., Cox, N., Crowley, J., Darrow, S., Davis, L., Depienne, C., Dietrich, A., Dion, Y., Elzerman, L., Fernandez, T., Freimer, N., Fremer, C., Fründt, O., Garcia-Delgar, B., Gilbert, D., Grados, M., Greenberg, E., Grice, D., Hagstrøm, J., Halvorsen, M., Hartmann, A., Hebebrand, J., Hedderly, T., Heiman, G., Heyman, I., Hinney, A., Hirschtritt, M., Hoekstra, P., Hong, H., Huang, A., Huyser, C., Ibanez-Gomez, L., Illmann, C., Jankovic, J., Kim, Y., Kim, Y.S., King, R., Knowles, J., Koh, Y.J., Konstantinidis, A., Kook, S., Kuperman, S., Kurlan, R., Leckman, J., Lee, P., Leventhal, B., Ludolph, A., Luðvigsson, P., Lyon, G., Madruga-Garrido, M., Malaty, I., Maras, A., Mataix-Cols, D., Mathews, C., Mattheisen, M., McMahon, W., McQuillin, A., Mir, P., Moessner, R., Morer, A., Mudgal, P., Mueller-Vahl, K., Murphy, T., Münchau, A., Nagy, P., Nawaz, M., Neale, B., Nordsletten, A., Nöthen, M., Okun, M., Ophoff, R., Osiecki, L., Paschou, P., Pato, C., Pato, M., Pauls, D., Plessen, K., Posthuma, D., Richer, P., Rizzo, R., Robertson, M., Roessner, V., Roffman, J., Rouleau, G., Sandor, P., Sæmundsen, E., Scharf, J., Schlögelhofer, M., Shin, E.Y., Singer, H., Smit, J., Smoller, J., Song, D.H., Song, J., Stamenkovic, M., State, M., Stefansson, H., Stefansson, K., Stuhrmann, M., Sul, J., Szatkiewicz, J., Tarnok, Z., Thorarensen, Ó., Tischfield, J., Tsetsos, F., Tübing, J., Visscher, F., Wagner, M., Wanderer, S., Wang, S., Willsey, J., Wolanczyk, T., Woods, D., Woods, M., Worbe, Y., Yu, D., Zelaya, I., Zinner, S., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Neuroscience - Compulsivity, Impulsivity & Attention, Amsterdam Reproduction & Development (AR&D), Plastic, Reconstructive and Hand Surgery, and Complex Trait Genetics

Subjects
Genetics, Tics, Single-nucleotide polymorphism, Biology, medicine.disease, Tourette syndrome, Genome, Identity by descent, Polymorphism, Single Nucleotide, Pedigree, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Risk Factors, Tic Disorders, medicine, SNP, Humans, Copy-number variation, Polymorphism, Single Nucleotide/genetics, Tourette Syndrome/genetics, Indel, Molecular Biology, Tourette Syndrome
Abstract

Tourette syndrome (TS) is a highly heritable neuropsychiatric disorder with complex patterns of genetic inheritance. Recent genetic findings in TS have highlighted both numerous common variants with small effects and a few rare variants with moderate or large effects. Here we searched for genetic causes of TS in a large, densely-affected British pedigree using a systematic genomic approach. This pedigree spans six generations and includes 122 members, 85 of whom were individually interviewed, and 53 of whom were diagnosed as "cases" (consisting of 28 with definite or probable TS, 20 with chronic multiple tics [CMT], and five with obsessive-compulsive behaviors [OCB]). A total of 66 DNA samples were available (25 TS, 15 CMT, 4 OCB cases, and 22 unaffecteds) and all were genotyped using a dense single nucleotide polymorphism (SNP) array to identify shared segments, copy number variants (CNVs), and to calculate genetic risk scores. Eight cases were also whole genome sequenced to test whether any rare variants were shared identical by descent. While we did not identify any notable CNVs, single nucleotide variants, indels or repeat expansions of near-Mendelian effect, the most distinctive feature of this family proved to be an unusually high load of common risk alleles for TS. We found that cases within this family carried a higher load of TS common variant risk similar to that previously found in unrelated TS cases. Thus far, the strongest evidence from genetic data for contribution to TS risk in this family comes from multiple common risk variants rather than one or a few variants of strong effect.

Published
2021

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