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2. Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration.
- Author
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Paschou, P, Jin, Y, Müller-Vahl, K, Möller, HE, Rizzo, R, Hoekstra, PJ, Roessner, V, Mol Debes, N, Worbe, Y, Hartmann, A, Mir, P, Cath, D, Neuner, I, Eichele, H, Zhang, C, Lewandowska, K, Munchau, A, Verrel, J, Musil, R, Silk, TJ, Hanlon, CA, Bihun, ED, Brandt, V, Dietrich, A, Forde, N, Ganos, C, Greene, DJ, Chu, C, Grothe, MJ, Hershey, T, Janik, P, Koller, JM, Martin-Rodriguez, JF, Müller, K, Palmucci, S, Prato, A, Ramkiran, S, Saia, F, Szejko, N, Torrecuso, R, Tumer, Z, Uhlmann, A, Veselinovic, T, Wolańczyk, T, Zouki, J-J, Jain, P, Topaloudi, A, Kaka, M, Yang, Z, Drineas, P, Thomopoulos, SI, White, T, Veltman, DJ, Schmaal, L, Stein, DJ, Buitelaar, J, Franke, B, van den Heuvel, O, Jahanshad, N, Thompson, PM, Black, KJ, Paschou, P, Jin, Y, Müller-Vahl, K, Möller, HE, Rizzo, R, Hoekstra, PJ, Roessner, V, Mol Debes, N, Worbe, Y, Hartmann, A, Mir, P, Cath, D, Neuner, I, Eichele, H, Zhang, C, Lewandowska, K, Munchau, A, Verrel, J, Musil, R, Silk, TJ, Hanlon, CA, Bihun, ED, Brandt, V, Dietrich, A, Forde, N, Ganos, C, Greene, DJ, Chu, C, Grothe, MJ, Hershey, T, Janik, P, Koller, JM, Martin-Rodriguez, JF, Müller, K, Palmucci, S, Prato, A, Ramkiran, S, Saia, F, Szejko, N, Torrecuso, R, Tumer, Z, Uhlmann, A, Veselinovic, T, Wolańczyk, T, Zouki, J-J, Jain, P, Topaloudi, A, Kaka, M, Yang, Z, Drineas, P, Thomopoulos, SI, White, T, Veltman, DJ, Schmaal, L, Stein, DJ, Buitelaar, J, Franke, B, van den Heuvel, O, Jahanshad, N, Thompson, PM, and Black, KJ
- Abstract
Tourette syndrome (TS) is characterized by multiple motor and vocal tics, and high-comorbidity rates with other neuropsychiatric disorders. Obsessive compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), major depressive disorder (MDD), and anxiety disorders (AXDs) are among the most prevalent TS comorbidities. To date, studies on TS brain structure and function have been limited in size with efforts mostly fragmented. This leads to low-statistical power, discordant results due to differences in approaches, and hinders the ability to stratify patients according to clinical parameters and investigate comorbidity patterns. Here, we present the scientific premise, perspectives, and key goals that have motivated the establishment of the Enhancing Neuroimaging Genetics through Meta-Analysis for TS (ENIGMA-TS) working group. The ENIGMA-TS working group is an international collaborative effort bringing together a large network of investigators who aim to understand brain structure and function in TS and dissect the underlying neurobiology that leads to observed comorbidity patterns and clinical heterogeneity. Previously collected TS neuroimaging data will be analyzed jointly and integrated with TS genomic data, as well as equivalently large and already existing studies of highly comorbid OCD, ADHD, ASD, MDD, and AXD. Our work highlights the power of collaborative efforts and transdiagnostic approaches, and points to the existence of different TS subtypes. ENIGMA-TS will offer large-scale, high-powered studies that will lead to important insights toward understanding brain structure and function and genetic effects in TS and related disorders, and the identification of biomarkers that could help inform improved clinical practice.
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- 2022
3. European clinical guidelines for Tourette Syndrome and other tic disorders. Part I
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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
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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.
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- 2011
4. European clinical guidelines for Tourette syndrome and other tic disorders. Part II
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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
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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.
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- 2011
5. European clinical guidelines for Tourette syndrome and other tic disorders. Part III: behavioural and psychosocial interventions
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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
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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.
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- 2011
6. European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: Deep brain stimulation
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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
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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.
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- 2011
7. Limited Knowledge of Tourette Syndrome Causes Delay in Diagnosis
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Mol Debes, N., primary, Hjalgrim, H., additional, and Skov, L., additional
- Published
- 2008
- Full Text
- View/download PDF
8. Is Tourette syndrome a rare condition?
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Natalia Szejko, Andrea E. Cavanna, Kirsten R. Müller-Vahl, Nanette Mol Debes, Andreas Hartmann, Hartmann, A, Szejko, N, Mol Debes, N, Cavanna, A, and Müller-Vahl, K
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Pediatrics ,medicine.medical_specialty ,Tic ,General Immunology and Microbiology ,Tics ,business.industry ,Tourette syndrome ,tics ,Neglected Disease ,rare disease ,General Medicine ,Articles ,Opinion Article ,medicine.disease ,General Biochemistry, Genetics and Molecular Biology ,Rare Diseases ,medicine ,Humans ,orphan disease ,General Pharmacology, Toxicology and Pharmaceutics ,business ,Rare disease - Abstract
Based on its prevalence, Tourette syndrome cannot be considered a rare condition. However, in this opinion article, we make the claim that it should nonetheless be considered as an orphan or neglected disease.
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- 2021
9. A Critical Examination of the Clinical Diagnosis of Functional Tic-like Behaviors.
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Andersen K, Cavanna AE, Szejko N, Müller-Vahl KR, Hedderly T, Skov L, and Mol Debes N
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- Humans, Diagnosis, Differential, Tics diagnosis, Tic Disorders diagnosis, COVID-19 diagnosis, COVID-19 epidemiology
- Abstract
Background: Since the COVID-19 pandemic, movement disorder clinics have seen an increase in patients with an unusual type of tic-like symptoms: young adults with abrupt onset complex behaviors. It was quickly suspected that these patients suffered from functional neurological symptoms, later named Functional Tic-Like Behaviors (FTLB). Subsequent research on the differential diagnosis between FTLB and tics has been substantial and led to the development of diagnostic checklists., Objectives: We conducted a theoretical reappraisal of the FTLB literature to clarify the validity of the concept and its diagnostic implications., Methods: This paper addresses several key aspects of the current FTLB literature: circular reasoning, the complications of the FTLB phenomenology and demographics, the impact of FTLB on tic literature at large, and issues with alignment of the FTLB concept with the diagnostic criteria for functional disorders., Results: The clinical approach to FTLB might involve circular reasoning due to a lack of clinical benchmarks. The FTLB phenomenology and demographics may need more work to ensure a lack of bias and a proper description of this patient group including a clear distinction from tics. The impact of the FTLB discussion on the wider literature needs consideration. The validation of positive signs may help with both these endeavors and pave way to the inclusion of FTLB within psychiatric classification systems. Furthermore, the coexistence of FTLB and tics within the same patient needs to be addressed., Conclusion: More research may be needed to fully establish the diagnosis of FTLB and differentiate it from tics., (© 2024 The Author(s). Movement Disorders Clinical Practice published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.)
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- 2024
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10. Tourette syndrome research highlights from 2023.
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Hartmann A, Andrén P, Atkinson-Clement C, Czernecki V, Delorme C, Mol Debes N, Morand-Beaulieu S, Müller-Vahl K, Paschou P, Szejko N, Topaloudi A, and Black KJ
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- Humans, Biomedical Research trends, Tourette Syndrome therapy
- Abstract
In this, the tenth annual update for the F1000Research Tics collection, we summarize research reports from 2023 on Gilles de la Tourette syndrome and other tic disorders. The authors welcome article suggestions and thoughtful feedback from readers., Competing Interests: Competing interests: AH is a consultant for Noema Pharma. PA has received royalties from the Tourette OCD Alberta Network. CD is a consultant for Medtronic. NMD has no conflicts of interest. VC has no conflict of interest. KU participated in a clinical trial sponsored by Emalex Biosciences. PP has no conflict of interest. AT has no conflict of interest. CAC has no conflict of interest. NSZ participated in clinical trial supported by Emalex and Nuvelution. She received scientific grants from the Polish Neurological Society, European Stroke Organisation, Polish Ministry of Health, Polish Foundation of Science, Tourette Association of America, American Academy of Neurology and American Brain Foundation. She received speaker honoraria from Biogen. PP was supported by EMTICS (Grant No. 278367), TS-EUROTRAIN (Grant No. 316978), the National Institute of Neurological Disorders and Stroke (Grant No. R01NS105746), U.S. National Science Foundation (Grant Nos. 2006929 and 1715202), and the National Institute of Mental Health (Grant No. R01MH126213). KMV has received financial or material research support from EU (FP7-HEALTH-2011 No. 278367, FP7-PEOPLE-2012-ITN No. 316978), DFG: GZ MU 1527/3-1 and GZ MU 1527/3-2, BMBF: 01KG1421, National Institute of Mental Health (NIMH), Tourette Gesellschaft Deutschland e.V., Else-Kröner-Fresenius-Stiftung, GW pharmaceuticals, Almirall, Abide Therapeutics, Emalex Biosciences, Inc., Noema Pharma, CannaXan, and Therapix Biosiences. She has received consultant's and other honoraria from Abide Therapeutics, adjupharm, Alexion, AMP Alternative Medical Products GmbH, Ingelheim International GmbH, Bionorica Ethics GmbH, CannaMedical Pharma GmbH, Canopy Grouth, Columbia Care, CTC Communications Corp., Demecan, Enua pharma, Ethypharm GmbH, Eurox Group, Global Praxis Group Limited, Hormosan Pharma GmbH, Lundbeck, MCI Germany, Neuraxpharm, Noema Pharma, Sanity Group, Stadapharm GmbH, Synendos Therapeutics AG, Syqe, Tilray, and Zambon. She is an advisory/scientific board member for Alexion, Branchenverband Cannabiswirtschaft e.V. (BvCW), CannaMedical Pharma GmbH, Bionorica Ethics GmbH, CannaXan GmbH, Canopy Growth, Columbia Care, Ethypharm GmbH, Hormosan Pharma GmbH, IMC Germany, Leafly Deutschland GmbH, Neuraxpharm, Sanity Group, Stadapharm GmbH, Synendos Therapeutics AG, Syqe Medical Ltd., Therapix Biosciences Ltd., and Tilray. She has received speakers fees from Agaplesion Frankfurter Diakonie Kliniken gemeinnützige GmbH, Almirall, Aphria Deutschland GmbH, Arbeitsgemeinschaft Cannabis als Medizin (ACM), Bedrocan, Branchenverband Cannabiswirtschaft e.V. (BvCW), Camurus, CEREBRO SPAIN BIDCO S.L, Cogitando GmbH, Deutsche Gesellschaft für Psychiatrie und Psychotherapie, Psychosomatik und Nervenheilkunde (DGPPN), Diplomado Internacional de Endocannabinología (Programa Universitario de Investigación en Salud - PUIS, UNAM), Dresden International University (DIU), Emalex, Eurox Deutschland GmbH, Ever pharma GmbH, Georgia Medical Cannabis Project (GMCP), GROW, Hessische Landesstelle für Suchtfragen e.V. (HLS), LIO Pharmaceuticals GmbH, Medizinischer Dienst Westfalen Lippe, Meinhardt Congress GmbH, PR Berater, Spectrum Therapeutics GmbH, Swiss Alpinopharm, targoEvent GmbH, Takeda GmbH, Tilray, von Mende Marketing GmbH, and Wayland Group. She has received royalties from Deutsches Ärzteblatt, Der Neurologie und Psychiater, Elsevier, Medizinisch Wissenschaftliche Verlagsgesellschaft Berlin, and Kohlhammer. She served as a guest editor for Frontiers in Neurology on the research topic "The neurobiology and genetics of Gilles de la Tourette syndrome: new avenues through large-scale collaborative projects", is an associate editor for "Cannabis and Cannabinoid Research", an Editorial Board Member of "Medical Cannabis and Cannabinoids" and "MDPI-Reports" and a scientific board member for "Zeitschrift für Allgemeinmedizin". SMB was supported by the Clinical Research Training Scholarship in Tourette syndrome from the Tourette Association of America and the American Brain Foundation, in collaboration with the American Academy of Neurology. PA has received funding from Region Skåne, The Crafoord Foundation, L.J. Boëthius Stiftelse, Stiftelsen Lindhaga, The Söderström Königska Foundation, Fredrik och Ingrid Thurings stiftelse, and The Sven Jerring Foundation outside the submitted work. KJB participated in a clinical trial sponsored by Emalex Biosciences and was an unpaid consultant for Noema Pharma AG; he received research support from Zhittya Genesis Medicine and from NIH (R01MH118217, UL1TR002345, R01MH126213, R21NS133875)., (Copyright: © 2024 Hartmann A et al.)
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- 2024
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11. Validation of the newly developed Sleep Screening Questionnaire Children and Adolescents (SSQ-CA) with objective sleep measures.
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Paulsrud C, Thorsen SU, Helms P, Weis MSF, Karacan MN, Lydolph SR, Ranjan AG, Leonthin H, Jennum PJ, Svensson J, and Mol Debes N
- Subjects
- Humans, Adolescent, Child, Reproducibility of Results, Cross-Sectional Studies, Polysomnography, Actigraphy, Surveys and Questionnaires, Sleep, Sleep Wake Disorders diagnosis
- Abstract
Objectives: Objectively validated pediatric sleep questionnaires covering a broader age range and different sleep disturbances are lacking, therefore we developed the Sleep Screening Questionnaire Children and Adolescents (SSQ-CA) and compared it with objective sleep parameters., Methods: This child-reported questionnaire was developed by a multidisciplinary panel and face validated. In a cross-sectional prospective design, participants aged 6-17, answered the questionnaire twice with 21-28 days in between, wore actigraphy (AG) and kept a sleep diary for seven nights and home-polysomnography (PSG) for one of these nights. Exploratory factor analyses (EFA), reliability and validity assessments were performed., Results: Of the 139 participants, 128 (F:47.7%, AG: n = 128, PSG: n = 59), were included in the analyses. Mean age: 11.3 years (SD: 2.9). EFA revealed 11 factors and 40 items loading above r = 0.4. Subscale internal consistency: 0.54-0.92. Subscale test-retest reliability: r = 0.71-0.87. Total sleep time (TST) from SSQ-CA on weekdays correlated with PSG (r = 0.48, p = 0.001) and with AG (r = 0.75, p < 0.001). The subscale total score for "Sleep duration and latency" correlated with TST from AG (r = -0.19, p = 0.03) and sleep latency (r = 0.31, p < 0.001), but not for PSG variables. The subscale "Awakenings" showed no correlation with objective measures whereas "Circadian rhythm" correlated to AG-derived mid-sleep time (r = 0.34, p < 0.001)., Conclusions: The SSQ-CA shows adequate reliability for the 6-17-year-olds and acceptable criterion validity for two subscales. It appears to be a useful tool for screening for sleep disturbances in combination with objective tools as the subjective and objective parameters seem to uncover different aspects of sleep., Competing Interests: Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Cecilie Paulsrud reports financial support was provided by Danish Diabetes And Endocrine Academy. Cecilie Paulsrud reports financial support was provided by Toyota Foundation. Cecilie Paulsrud reports financial support was provided by Danish Medical Association. Cecilie Paulsrud reports financial support was provided by Holms Memorial Legatee. Steffen Ullitz Thorsen reports financial support was provided by Danish Diabetes Association. Nanette Mol Debes reports financial support was provided by The AP Møller Support Foundation. Nanette Mol Debes reports financial support was provided by Dr Louise Childrens Hospital Research Foundation. Cecilie Paulsrud reports financial support was provided by Professor Kirsten Nørgaard (Steno Diabetes Center Copenhagen). Cecilie Paulsrud reports financial support was provided by Capitol Region of Denmark Artificial Intelligence Foundation. Cecilie Paulsrud reports financial support was provided by Factuality of Health Sciences Foundation University of Copenhagen., (Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.)
- Published
- 2023
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12. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome.
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Jain P, Miller-Fleming T, Topaloudi A, Yu D, Drineas P, Georgitsi M, Yang Z, Rizzo R, Müller-Vahl KR, Tumer Z, Mol Debes N, Hartmann A, Depienne C, Worbe Y, Mir P, Cath DC, Boomsma DI, Roessner V, Wolanczyk T, Janik P, Szejko N, Zekanowski C, Barta C, Nemoda Z, Tarnok Z, Buxbaum JD, 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 KJ, Porcelli C, Walitza S, Schrag A, Martino D, Dietrich A, Mathews CA, Scharf JM, Hoekstra PJ, Davis LK, and Paschou P
- Subjects
- Male, Female, Humans, Risk Factors, Tourette Syndrome genetics, Diabetes Mellitus, Type 2, Autism Spectrum Disorder genetics, Attention Deficit Disorder with Hyperactivity genetics
- Abstract
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., (© 2023. The Author(s).)
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- 2023
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13. Enhancing neuroimaging genetics through meta-analysis for Tourette syndrome (ENIGMA-TS): A worldwide platform for collaboration.
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Paschou P, Jin Y, Müller-Vahl K, Möller HE, Rizzo R, Hoekstra PJ, Roessner V, Mol Debes N, Worbe Y, Hartmann A, Mir P, Cath D, Neuner I, Eichele H, Zhang C, Lewandowska K, Munchau A, Verrel J, Musil R, Silk TJ, Hanlon CA, Bihun ED, Brandt V, Dietrich A, Forde N, Ganos C, Greene DJ, Chu C, Grothe MJ, Hershey T, Janik P, Koller JM, Martin-Rodriguez JF, Müller K, Palmucci S, Prato A, Ramkiran S, Saia F, Szejko N, Torrecuso R, Tumer Z, Uhlmann A, Veselinovic T, Wolańczyk T, Zouki JJ, Jain P, Topaloudi A, Kaka M, Yang Z, Drineas P, Thomopoulos SI, White T, Veltman DJ, Schmaal L, Stein DJ, Buitelaar J, Franke B, van den Heuvel O, Jahanshad N, Thompson PM, and Black KJ
- Abstract
Tourette syndrome (TS) is characterized by multiple motor and vocal tics, and high-comorbidity rates with other neuropsychiatric disorders. Obsessive compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASDs), major depressive disorder (MDD), and anxiety disorders (AXDs) are among the most prevalent TS comorbidities. To date, studies on TS brain structure and function have been limited in size with efforts mostly fragmented. This leads to low-statistical power, discordant results due to differences in approaches, and hinders the ability to stratify patients according to clinical parameters and investigate comorbidity patterns. Here, we present the scientific premise, perspectives, and key goals that have motivated the establishment of the Enhancing Neuroimaging Genetics through Meta-Analysis for TS (ENIGMA-TS) working group. The ENIGMA-TS working group is an international collaborative effort bringing together a large network of investigators who aim to understand brain structure and function in TS and dissect the underlying neurobiology that leads to observed comorbidity patterns and clinical heterogeneity. Previously collected TS neuroimaging data will be analyzed jointly and integrated with TS genomic data, as well as equivalently large and already existing studies of highly comorbid OCD, ADHD, ASD, MDD, and AXD. Our work highlights the power of collaborative efforts and transdiagnostic approaches, and points to the existence of different TS subtypes. ENIGMA-TS will offer large-scale, high-powered studies that will lead to important insights toward understanding brain structure and function and genetic effects in TS and related disorders, and the identification of biomarkers that could help inform improved clinical practice., Competing Interests: Authors IN and SR were employed by the company Forschungszentrum Jülich GmbH. The remaining 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., (Copyright © 2022 Paschou, Jin, Müller-Vahl, Möller, Rizzo, Hoekstra, Roessner, Mol Debes, Worbe, Hartmann, Mir, Cath, Neuner, Eichele, Zhang, Lewandowska, Munchau, Verrel, Musil, Silk, Hanlon, Bihun, Brandt, Dietrich, Forde, Ganos, Greene, Chu, Grothe, Hershey, Janik, Koller, Martin-Rodriguez, Müller, Palmucci, Prato, Ramkiran, Saia, Szejko, Torrecuso, Tumer, Uhlmann, Veselinovic, Wolańczyk, Zouki, Jain, Topaloudi, Kaka, Yang, Drineas, Thomopoulos, White, Veltman, Schmaal, Stein, Buitelaar, Franke, van den Heuvel, Jahanshad, Thompson and Black.)
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- 2022
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14. Is Tourette syndrome a rare condition?
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Hartmann A, Szejko N, Mol Debes N, Cavanna AE, and Müller-Vahl K
- Subjects
- Humans, Rare Diseases epidemiology, Tourette Syndrome diagnosis, Tourette Syndrome epidemiology
- Abstract
Based on its prevalence, Tourette syndrome cannot be considered a rare condition. However, in this opinion article, we make the claim that it should nonetheless be considered as an orphan or neglected disease., Competing Interests: Competing interests: Andreas Hartmann has received consultant's honoraria from Lundbeck and Noema Pharma. Natalia Szejko: None. Nanette Mol Debes: None. Andrea E. Cavanna: None. Kirsten Müller-Vahl: Financial or material research support from EU (FP7-HEALTH-2011 No. 278367, FP7-PEOPLE-2012-ITN No. 316978) DFG: GZ MU 1527/3-1 and GZ MU 1527/3-2, BMBF: 01KG1421, National Institute of Mental Health (NIMH), Tourette Gesellschaft Deutschland e.V. Else-Kröner-Fresenius-Stiftung, GW pharmaceuticals, Almirall Hermal GmbH, Abide Therapeutics, and Therapix Biosiences. She has received consultant's honoraria from Abide Therapeutics, Boehringer Ingelheim International GmbH, Bionorica Ethics GmbH, CannaMedical Pharma GmbH, Canopy Grouth, Columbia Care, CTC Communications Corp., Demecan, Eurox Deutschland GmbH, Global Praxis Group Limited, IMC Germany, Lundbeck, Sanity Group, Stadapharm GmbH, Synendos Therapeutics AG, and Tilray. She is an advisory/scientific board member for CannaMedical Pharma GmbH, Bionorica Ethics GmbH, CannaXan GmbH, Canopy Growth, Columbia Care, IMC Germany, Leafly Deutschland GmbH, Sanity Group, Syqe Medical Ltd., Therapix Biosciences Ltd., and Wayland Group. She has received speaker’s fees from Aphria Deutschland GmbH, Almirall, Cogitando GmbH, Emalex, Eurox Deutschland GmbH, Ever pharma GmbH, Meinhardt Congress GmbH, PR Berater, Spectrum Therapeutics GmbH, Takeda GmbH, Tilray, Wayland Group. She has received royalties fromDeutsches Ärzteblatt, Der Neurologie und Psychiater, Elsevier, Medizinisch Wissenschaftliche Verlagsgesellschaft Berlin, and Kohlhammer. She served as a guest editor for Frontiers in Neurology on the research topic “The neurobiology and genetics of Gilles de la Tourette syndrome: new avenues through large-scale collaborative projects”, is an associate editor for “Cannabis and Cannabinoid Research” and an Editorial Board Member of “Medical Cannabis and Cannabinoids” und “MDPI-Reports” and a Scientific board member for “Zeitschrift für Allgemeinmedizin”., (Copyright: © 2021 Hartmann A et al.)
- Published
- 2021
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15. Is Tourette syndrome a rare disease?
- Author
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Hartmann A, Szejko N, Mol Debes N, Cavanna AE, and Müller-Vahl K
- Subjects
- Humans, Rare Diseases epidemiology, Tourette Syndrome diagnosis, Tourette Syndrome epidemiology
- Abstract
Based on its prevalence, Tourette syndrome cannot be considered a rare disease. However, in this opinion article, we make the claim that it should nonetheless be considered as an orphan or neglected disease., Competing Interests: Competing interests: Andreas Hartmann has received consultant's honoraria from Lundbeck and Noema Pharma. Natalia Szejko: None. Nanette Mol Debes: None. Andrea E. Cavanna: None. Kirsten Müller-Vahl: Financial or material research support from EU (FP7-HEALTH-2011 No. 278367, FP7-PEOPLE-2012-ITN No. 316978) DFG: GZ MU 1527/3-1 and GZ MU 1527/3-2, BMBF: 01KG1421, National Institute of Mental Health (NIMH), Tourette Gesellschaft Deutschland e.V. Else-Kröner-Fresenius-Stiftung, GW pharmaceuticals, Almirall Hermal GmbH, Abide Therapeutics, and Therapix Biosiences. She has received consultant's honoraria from Abide Therapeutics, Boehringer Ingelheim International GmbH, Bionorica Ethics GmbH, CannaMedical Pharma GmbH, Canopy Grouth, Columbia Care, CTC Communications Corp., Demecan, Eurox Deutschland GmbH, Global Praxis Group Limited, IMC Germany, Lundbeck, Sanity Group, Stadapharm GmbH, Synendos Therapeutics AG, and Tilray. She is an advisory/scientific board member for CannaMedical Pharma GmbH, Bionorica Ethics GmbH, CannaXan GmbH, Canopy Growth, Columbia Care, IMC Germany, Leafly Deutschland GmbH, Sanity Group, Syqe Medical Ltd., Therapix Biosciences Ltd., and Wayland Group. She has received speaker’s fees from Aphria Deutschland GmbH, Almirall, Cogitando GmbH, Emalex, Eurox Deutschland GmbH, Ever pharma GmbH, Meinhardt Congress GmbH, PR Berater, Spectrum Therapeutics GmbH, Takeda GmbH, Tilray, Wayland Group. She has received royalties fromDeutsches Ärzteblatt, Der Neurologie und Psychiater, Elsevier, Medizinisch Wissenschaftliche Verlagsgesellschaft Berlin, and Kohlhammer. She served as a guest editor for Frontiers in Neurology on the research topic “The neurobiology and genetics of Gilles de la Tourette syndrome: new avenues through large-scale collaborative projects”, is an associate editor for “Cannabis and Cannabinoid Research” and an Editorial Board Member of “Medical Cannabis and Cannabinoids” und “MDPI-Reports” and a Scientific board member for “Zeitschrift für Allgemeinmedizin”., (Copyright: © 2021 Hartmann A et al.)
- Published
- 2021
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16. Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study.
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Martino D, Schrag A, Anastasiou Z, Apter A, Benaroya-Milstein N, Buttiglione M, Cardona F, Creti R, Efstratiou A, Hedderly T, Heyman I, Huyser C, Madruga M, Mir P, Morer A, Mol Debes N, Moll N, Müller N, Müller-Vahl K, Munchau A, Nagy P, Plessen KJ, Porcelli C, Rizzo R, Roessner V, Schnell J, Schwarz M, Skov L, Steinberg T, Tarnok Z, Walitza S, Dietrich A, and Hoekstra PJ
- Subjects
- Adolescent, Child, Child, Preschool, Cohort Studies, Europe epidemiology, Female, Humans, Male, Prospective Studies, Symptom Flare Up, Streptococcal Infections epidemiology, Tic Disorders epidemiology
- Abstract
Objective: To examine prospectively the association between group A Streptococcus (GAS) pharyngeal exposures and exacerbations of tics in a large multicenter population of youth with chronic tic disorders (CTD) across Europe., Methods: We followed up 715 children with CTD (age 10.7 ± 2.8 years, 76.8% boys), recruited by 16 specialist clinics from 9 countries, and followed up for 16 months on average. Tic, obsessive-compulsive symptom (OCS), and attention-deficit/hyperactivity disorder (ADHD) severity was assessed during 4-monthly study visits and telephone interviews. GAS exposures were analyzed using 4 possible combinations of measures based on pharyngeal swab and serologic testing. The associations between GAS exposures and tic exacerbations or changes of tic, OC, and ADHD symptom severity were measured, respectively, using multivariate logistic regression plus multiple failure time analyses and mixed effects linear regression., Results: A total of 405 exacerbations occurred in 308 of 715 (43%) participants. The proportion of exacerbations temporally associated with GAS exposure ranged from 5.5% to 12.9%, depending on GAS exposure definition. We did not detect any significant association of any of the 4 GAS exposure definitions with tic exacerbations (odds ratios ranging between 1.006 and 1.235, all p values >0.3). GAS exposures were associated with longitudinal changes of hyperactivity-impulsivity symptom severity ranging from 17% to 21%, depending on GAS exposure definition., Conclusions: This study does not support GAS exposures as contributing factors for tic exacerbations in children with CTD. Specific workup or active management of GAS infections is unlikely to help modify the course of tics in CTD and is therefore not recommended., (© 2021 American Academy of Neurology.)
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- 2021
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17. Course of Tourette Syndrome and Comorbidities in a Large Prospective Clinical Study.
- Author
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Groth C, Mol Debes N, Rask CU, Lange T, and Skov L
- Subjects
- Adolescent, Adult, Attention Deficit Disorder with Hyperactivity epidemiology, Child, Child, Preschool, Comorbidity, Female, Follow-Up Studies, Humans, Male, Obsessive-Compulsive Disorder epidemiology, Tourette Syndrome epidemiology, Young Adult, Attention Deficit Disorder with Hyperactivity physiopathology, Obsessive-Compulsive Disorder physiopathology, Severity of Illness Index, Tourette Syndrome physiopathology
- Abstract
Objective: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by tics and frequent comorbidities. Although tics often improve during adolescence, recent studies suggest that comorbid obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) tend to persist. This large prospective follow-up study describes the clinical course of tics and comorbidities during adolescence and the prevalence of coexisting psychopathologies., Method: The clinical cohort was recruited at the Danish National Tourette Clinic, and data were collected at baseline (n = 314, age range 5-19 years) and at follow-up 6 years later (n = 227) to establish the persistence and severity of tics and comorbidities. During follow-up, the Development and Well-Being Assessment (DAWBA) was used to diagnose coexisting psychopathologies. Repeated measures of severity scores were modeled using mixed effects models., Results: Tic severity declined yearly (0.8 points, CI: 0.58-1.01, on the Yale Global Tic Severity Scale [YGTSS]) during adolescence; 17.7% of participants above age 16 years had no tics, whereas 59.5% had minimal or mild tics, and 22.8% had moderate or severe tics. Similarly, significant yearly declines in severity of both OCD (0.24, CI: 0.09-0.39, on the Yale-Brown Obsessive Compulsive Scale for Adults [Y-BOCS] and Yale-Brown Obsessive Compulsive Scale for Children [CY-BOCS]) and ADHD (0.42, CI: 0.32-0.52, DSM-IV) were recorded. At follow-up, 63.0% of participants had comorbidities or coexistent psychopathologies, whereas 37.0% had pure TS., Conclusion: Severity of tics, OCD, and ADHD were significantly associated with age and declined during adolescence. However, considerable comorbidities and coexisting psychopathologies persist throughout adolescence and require monitoring by clinicians., (Copyright © 2017 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.)
- Published
- 2017
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18. Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort.
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Bertelsen B, Stefánsson H, Riff Jensen L, Melchior L, Mol Debes N, Groth C, Skov L, Werge T, Karagiannidis I, Tarnok Z, Barta C, Nagy P, Farkas L, Brøndum-Nielsen K, Rizzo R, Gulisano M, Rujescu D, Kiemeney LA, Tosato S, Nawaz MS, Ingason A, Unnsteinsdottir U, Steinberg S, Ludvigsson P, Stefansson K, Kuss AW, Paschou P, Cath D, Hoekstra PJ, Müller-Vahl K, Stuhrmann M, Silahtaroglu A, Pfundt R, and Tümer Z
- Subjects
- Adult, Animals, Attention Deficit Disorder with Hyperactivity genetics, Cohort Studies, Comorbidity, Denmark, Exons, Female, Genotyping Techniques, Germany, Humans, Hungary, Iceland, Italy, Male, Mice, Netherlands, DNA Copy Number Variations genetics, Sequence Deletion genetics, Tourette Syndrome genetics
- Abstract
Background: Gilles de la Tourette syndrome (GTS) is a complex neuropsychiatric disorder with a strong genetic influence where copy number variations are suggested to play a role in disease pathogenesis. In a previous small-scale copy number variation study of a GTS cohort (n = 111), recurrent exon-affecting microdeletions of four genes, including the gene encoding arylacetamide deacetylase (AADAC), were observed and merited further investigations., Methods: We screened a Danish cohort of 243 GTS patients and 1571 control subjects for submicroscopic deletions and duplications of these four genes. The most promising candidate gene, AADAC, identified in this Danish discovery sample was further investigated in cohorts from Iceland, the Netherlands, Hungary, Germany, and Italy, and a final meta-analysis, including a total of 1181 GTS patients and 118,730 control subjects from these six European countries, was performed. Subsequently, expression of the candidate gene in the central nervous system was investigated using human and mouse brain tissues., Results: In the Danish cohort, we identified eight patients with overlapping deletions of AADAC. Investigation of the additional five countries showed a significant association between the AADAC deletion and GTS, and a final meta-analysis confirmed the significant association (p = 4.4 × 10(-4); odds ratio = 1.9; 95% confidence interval = 1.33-2.71). Furthermore, RNA in situ hybridization and reverse transcription-polymerase chain reaction studies revealed that AADAC is expressed in several brain regions previously implicated in GTS pathology., Conclusions: AADAC is a candidate susceptibility factor for GTS and the present findings warrant further genomic and functional studies to investigate the role of this gene in the pathogenesis of GTS., (Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.)
- Published
- 2016
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19. Association of the CHRNA7 promoter variant -86T with Tourette syndrome and comorbid obsessive-compulsive disorder.
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Bertelsen B, Melchior L, Groth C, Mol Debes N, Skov L, Holst KK, Fagerlund B, Mikkelsen JD, and Tümer Z
- Subjects
- Adult, Case-Control Studies, Comorbidity, Female, Genetic Variation genetics, Humans, Logistic Models, Male, Obsessive-Compulsive Disorder epidemiology, Obsessive-Compulsive Disorder genetics, Promoter Regions, Genetic, Tourette Syndrome epidemiology, Tourette Syndrome genetics, alpha7 Nicotinic Acetylcholine Receptor genetics
- Published
- 2014
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20. Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.
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Yasmeen S, Melchior L, Bertelsen B, Skov L, Mol Debes N, and Tümer Z
- Subjects
- 3' Untranslated Regions, Base Sequence, Chromosomes, Human, DNA Primers, Denmark, Female, Humans, Male, Pedigree, Polymerase Chain Reaction, Membrane Proteins genetics, Nerve Tissue Proteins genetics, Tourette Syndrome genetics
- Abstract
Tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by multiple motor and vocal tics and is often accompanied by comorbidities such as attention deficit hyperactivity disorder and obsessive-compulsive disorder. The complex etiology of TS and its co-occurrence with other disorders impedes linking genetic changes with disease segregation. One of the few genes that has been linked to TS is the SLITRK1 (Slit and Trk-like 1) gene, where four variations have been suggested as possible disease-associated changes. One of these variations, which has been reported in six unrelated TS patients, was a noncoding variant (var321) at the 3'-untranslated region of SLITRK1 within a conserved binding site for microRNA has-mir-189. To elucidate the potential role of var321 in disease pathogenesis, a cohort of 112 deeply phenotyped Danish TS patients was investigated for this variation. We could not detect var321 in the present cohort, suggesting that this is not a common variant among Danish TS patients.
- Published
- 2013
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