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7 results on '"Hagstrøm, J."'

1. An observational study of emotion regulation in children with Tourette syndrome.

Author

Hagstrøm J, Spang KS, Vangkilde S, Maigaard K, Skov L, Pagsberg AK, Jepsen JRM, and Plessen KJ

Subjects
Comorbidity, Humans, Attention Deficit Disorder with Hyperactivity epidemiology, Emotional Regulation, Tic Disorders, Tourette Syndrome
Abstract

Background: Explosive outbursts occur in 25%-70% of children with Tourette syndrome (TS) and may cause more distress than the tics themselves. Previous studies have indicated that a comorbid diagnosis of attention-deficit/hyperactivity disorder (ADHD) is associated with emotional dysregulation in TS; however, this relationship has almost exclusively been studied using parent-reported questionnaires., Methods: We examined emotion regulation (ER) with an observational measure in 150 medication-naïve children aged 7-12 allocated to four groups: Forty-nine children with TS, 23 children with ADHD, 16 children with TS + ADHD, and 62 typically developing controls. We assessed participants' ER ability, as well as parent-child interactions in the context of a complex puzzle task, and coded the observed behavior with the Tangram Emotion Coding Manual (TEC-M). We examined group differences in ER, as well as associations between ER and severity of symptoms pertaining to TS and ADHD., Results: Children with TS did not differ from controls in their ER ability. However, children with ADHD and TS + ADHD had more problems with ER than those with TS only and controls. Finally, parents of children with ADHD displayed more tension during the experimental task. ER ability was not associated with tic severity nor premonitory urges; however, better ER ability was associated with less severe symptoms of ADHD., Conclusions: This study is the first to evaluate ER with an observational, clinician-rated measure in a controlled social setting in children with TS. Our findings support earlier questionnaire-based studies by showing impaired ER in children with TS + ADHD, but not in children with TS without comorbidity. These findings inform our understanding of the phenomenology of emotional dysregulation in TS and the role of comorbid disorders., (© 2020 Association for Child and Adolescent Mental Health.)

Published
2021
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2. Vitamin D levels in children and adolescents with chronic tic disorders: a multicentre study

Author

Molly, Bond, Natalie, Moll, Alicia, Rosello, Rod, Bond, Jaana, Schnell, Bianka, Burger, Pieter, J Hoekstra, Andrea, Dietrich, Anette, Schrag, Eva, Kocovska, Martino, Davide, Norbert, Mueller, Markus, Schwarz, Ute-Christiane, Meier, EMTICS Collaborative Group: Alan Apter, Baglioni, Valentina, Juliane, Ball, Noa, Benaroya-Milshtein, Benjamin, Bodmer, Emese, Bognar, Judith, Buse, Cardona, Francesco Carmelo Giovanni, Marta Correa Vela, Nanette, M Debes, Maria Cristina Ferro, Carolin, Fremer, Blanca, Garcia-Delgar, Mariangela, Gulisano, Annelieke, Hagen, Julie, Hagstrøm, Tammy, J Hedderly, Isobel, Heyman, Chaim, Huyser, Marcos, Madruga-Garrido, Anna, Marotta, Pablo, Mir, Astrid, Morer, Norbert, Müller, Kirsten, R Müller-Vahl, Alexander, Münchau, Peter, Nagy, Neri, Valeria, Thaïra Jc Openneer, Pellico, Alessandra, Ángela Periañez Vasco, Kerstin, J Plessen, Cesare, Porcelli, Marina, Redondo, Rizzo, Renata, Veit, Roessner, Daphna, Ruhrman, Jaana Ml Schnell, Silvestri, PAOLA ROSARIA, Liselotte, Skov, Tamar, Steinberg, Friederike Tagwerker Gloor, Zsanett, Tarnok, Jennifer, Tübing, Victoria, L Turner, Susanne, Walitza, Elif, Weidinger, Clinical Cognitive Neuropsychiatry Research Program (CCNP), EMTICS Collaborative Group, Bruun, J.E., Grejsen, J., Ommundsen, C.L., Rubæk, M., Enghardt, S., Bokemeyer, S., Driedger-Garbe, C., Reichert, C., Schmalfeld, J., Duffield, T., Gergye, F., Kovacs, M., Vidomusz, R., Carmel, M., Fennig, S., Gev, E., Keller, N., Michaelovsky, E., Nahon, M., Regev, C., Simcha, T., Smollan, G., Weizman, A., Gagliardi, G., Tallon, M., Roazzi, P., van den Ban, E., de Bruijn, SFTM, Driessen, N., Lamerz, A., Messchendorp, M., Rath, JJG, Sival, NSD, Tromp, N., Visscher, F., de la Tourettes, S.G., Cáceres, M.T., Carrillo, F., Gómez-Garre, P., Vargas, L., Gariup, M., Stöber, S., Apter, A., Baglioni, V., Ball, J., Benaroya-Milshtein, N., Bodmer, B., Bond, M., Bognar, E., Burger, B., Buse, J., Cardona, F., Vela, M.C., Dietrich, A., Debes, N.M., Ferro, M.C., Fremer, C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrøm, J., Hedderly, T.J., Heyman, I., Hoekstra, P.J., Huyser, C., Madruga-Garrido, M., Marotta, A., Martino, D., Meier, U.C., Mir, P., Moll, N., Morer, A., Mueller, N., Müller-Vahl, K., Münchau, A., Nagy, P., Neri, V., Openneer, TJC, Pellico, A., Vasco, Á.P., Plessen, K.J., Porcelli, C., Redondo, M., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, JML, Schrag, A., Schwarz, M.J., Silvestri, P.R., Skov, L., Steinberg, T., Gloor, F.T., Tarnok, Z., Tübing, J., Turner, V.L., Walitza, S., Weidinger, E., and Woods, M.L.

Subjects
Obsessive-Compulsive Disorder, Tic disorder, medicine.medical_specialty, Adolescent, Tics, Comorbidity, Severity of Illness Index, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, mental disorders, Developmental and Educational Psychology, medicine, Child and adolescent psychiatry, Vitamin D and neurology, Humans, ADHD, Vitamin D, Child, OCD, business.industry, Tourette, Symptom severity, General Medicine, Attention Deficit Disorder with Hyperactivity/psychology, Cross-Sectional Studies, Obsessive-Compulsive Disorder/epidemiology, Obsessive-Compulsive Disorder/psychology, Tic Disorders/metabolism, Tic Disorders/psychology, Tics/complications, Tics/metabolism, Tourette Syndrome/psychology, Vitamin D/metabolism, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Attention Deficit Disorder with Hyperactivity, Tic Disorders, Pediatrics, Perinatology and Child Health, Cohort, CTD, business, 030217 neurology & neurosurgery, Tourette Syndrome
Abstract

This study investigated whether vitamin D is associated with the presence or severity of chronic tic disorders and their psychiatric comorbidities. This cross-sectional study compared serum 25-hydroxyvitamin D [25(OH)D] (ng/ml) levels among three groups: children and adolescents (3–16 years) with CTD (n = 327); first-degree relatives (3–10 years) of individuals with CTD who were assessed for a period of up to 7 years for possible onset of tics and developed tics within this period (n = 31); and first-degree relatives who did not develop tics and were ≥ 10 years old at their last assessment (n = 93). The relationship between 25(OH)D and the presence and severity of tics, as well as comorbid obsessive–compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD), were analysed controlling for age, sex, season, centre, latitude, family relatedness, and comorbidities. When comparing the CTD cohort to the unaffected cohort, the observed result was contrary to the one expected: a 10 ng/ml increase in 25(OH)D was associated with higher odds of having CTD (OR 2.08, 95% CI 1.27–3.42, p p = 0.01) and was inversely associated with ADHD symptom severity (β = − 2.52, 95% CI − 4.16–0.88, p

Published
2022

3. Hair cortisol-a stress marker in children and adolescents with chronic tic disorders? A large European cross-sectional study

Author

Judith, Buse, Josefine, Rothe, Anne, Uhlmann, Benjamin, Bodmer, Clemens, Kirschbaum, Hoekstra, Pieter J., Andrea, Dietrich, Veit, Roessner, EMTICS collaborative group: Alan Apter, Baglioni, Valentina, Juliane, Ball, Noa, Benaroya-Milshtein, Emese, Bognar, Bianka, Burger, Cardona, Francesco Carmelo Giovanni, Marta Correa Vela, Maria Cristina Ferro, Blanca, Garcia-Delgar, Mariangela, Gulisano, Annelieke, Hagen, Julie, Hagstrøm, Hedderly, Tammy J., Isobel, Heyman, Chaim, Huyser, Marcos, Madruga-Garrido, Martino, Davide, Pablo, Mir, Astrid, Morer, Kirsten, Müller-Vahl, Alexander, Münchau, Peter, Nagy, Neri, Valeria, Openneer, Thaïra J. C., Pellico, Alessandra, Plessen, Kerstin J., Cesare, Porcelli, Rizzo, Renata, Daphna, Ruhrman, Schnell, Jaana M. L., Anette, Schrag, Silvestri, PAOLA ROSARIA, Liselotte, Skov, Tamar, Steinberg, Friederike Tagwerker Gloor, Zsanett Tarnok &amp, Elif, Weidinger, EMTICS collaborative group, Apter, A., Baglioni, V., Ball, J., Benaroya-Milshtein, N., Bodmer, B., Bognar, E., Burger, B., Buse, J., Cardona, F., Vela, M.C., Dietrich, A., Ferro, M.C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrøm, J., Hedderly, T.J., Heyman, I., Hoekstra, P.J., Huyser, C., Madruga-Garrido, M., Martino, D., Mir, P., Morer, A., Müller-Vahl, K., Münchau, A., Nagy, P., Neri, V., Openneer, TJC, Pellico, A., Plessen, K.J., Porcelli, C., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, JML, Schrag, A., Silvestri, P.R., Skov, L., Steinberg, T., Gloor, F.T., Tarnok, Z., Weidinger, E., and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
BIOMARKER, medicine.medical_specialty, Adolescent, Hydrocortisone, GENETICS, Tics, RESPONSIVITY, Cross-sectional study, Chronic tic disorders, Emotional and behavioral problems, Physiological stress marker, Psychosocial stress, Tourette, Tourette syndrome, 03 medical and health sciences, 0302 clinical medicine, Biomarkers, Child, Cross-Sectional Studies, Hair, Humans, Tic Disorders/diagnosis, Developmental and Educational Psychology, Child and adolescent psychiatry, Medicine, ASSOCIATIONS, business.industry, TOURETTE-SYNDROME, Stressor, OBSESSIVE-COMPULSIVE DISORDER, General Medicine, medicine.disease, PREVALENCE, 030227 psychiatry, INDIVIDUALS, Psychiatry and Mental health, PSYCHOMETRIC PROPERTIES, Tic Disorders, Pediatrics, Perinatology and Child Health, Cohort, Biomarker (medicine), STRENGTHS, business, 030217 neurology & neurosurgery, Clinical psychology
Abstract

Background There is clear evidence that tic disorders (TDs) are associated with psychosocial stress as well as emotional and behavioral problems. Studies have shown that individuals with TDs have higher acute physiological stress responses to external, single stressors (as reflected by saliva cortisol). The aim of the present study was to examine a physiological marker of longer-term stress (as reflected by hair cortisol concentration) in children and adolescents with TDs and unaffected siblings of individuals with TDs. Methods Two samples of a European cohort were included in this study. In the COURSE sample, 412 children and adolescents aged 3–16 years with a chronic TD including Tourette syndrome according to DSM IV-TR criteria were included. The ONSET sample included 131 3–10 years old siblings of individuals with TDs, who themselves had no tics. Differences in hair cortisol concentration (HCC) between the two samples were examined. Within the COURSE sample, relations of HCC with tic severity and perceived psychosocial stress as well as potential effects and interaction effects of comorbid emotional and behavioral problems and psychotropic medication on HCC were investigated. Results There were no differences in HCC between the two samples. In participants with TDs, there were no associations between HCC and tic severity or perceived psychosocial stress. No main effects of sex, psychotropic medication status and comorbid emotional and behavioral problems on HCC were found in participants with TDs. Conclusion A link between HCC and TDs is not supported by the present results.

Published
2021

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

5. Yale Global Tic Severity Scale (YGTSS): Psychometric Quality of the Gold Standard for Tic Assessment Based on the Large-Scale EMTICS Study

Author

Martina Haas, Ewgeni Jakubovski, Carolin Fremer, Andrea Dietrich, Pieter J. Hoekstra, Burkard Jäger, Kirsten R. Müller-Vahl, The EMTICS Collaborative Group, Alan Apter, Valentina Baglioni, Juliane Ball, Noa Benaroya-Milshtein, Benjamin Bodmer, Emese Bognar, Bianka Burger, Judith Buse, Francesco Cardona, Marta Correa Vela, Nanette M. Debes, Maria Cristina Ferro, Blanca Garcia-Delgar, Mariangela Gulisano, Annelieke Hagen, Julie Hagstrøm, Tammy J. Hedderly, Isobel Heyman, Chaim Huyser, Marcos Madruga-Garrido, Anna Marotta, Davide Martino, Pablo Mir, Astrid Morer, Norbert Müller, Alexander Münchau, Peter Nagy, Valeria Neri, Thaïra J.C. Openneer, Alessandra Pellico, Ángela Periañez Vasco, Kerstin J. Plessen, Cesare Porcelli, Marina Redondo, Renata Rizzo, Veit Roessner, Daphna Ruhrman, Jaana M.L. Schnell, Anette Schrag, Paola Rosaria Silvestri, Liselotte Skov, Tamar Steinberg, Friederike Tagwerker Gloor, Zsanett Tarnok, Jennifer Tübing, Victoria L. Turner, Susanne Walitza, Elif Weidinger, EMTICS Collaborative Group, Apter, A., Baglioni, V., Ball, J., Benaroya-Milshtein, N., Bodmer, B., Bognar, E., Burger, B., Buse, J., Cardona, F., Correa Vela, M., Debes, N.M., Dietrich, A., Cristina Ferro, M., Fremer, C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrøm, J., Hedderly, T.J., Heyman, I., Hoekstra, P.J., Huyser, C., Madruga-Garrido, M., Marotta, A., Martino, D., Mir, P., Morer, A., Müller, N., Müller-Vahl, K.R., Münchau, A., Nagy, P., Neri, V., Openneer, T.J., Pellico, A., Periañez Vasco, Á., Plessen, K.J., Porcelli, C., Redondo, M., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, J.M., Schrag, A., Rosaria Silvestri, P., Skov, L., Steinberg, T., Tagwerker Gloor, F., Tarnok, Z., Tübing, J., Turner, V.L., Walitza, S., Weidinger, E., and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
confirmatory factor analysis, Psychometrics, Tic disorders, Tics, lcsh:RC435-571, YGTSS = Yale Global Tic Severity Scale, Tourette's syndrome (TS), internal consistency, psychometric properties, s syndrome (TS), Tourette&apos, 03 medical and health sciences, 0302 clinical medicine, lcsh:Psychiatry, mental disorders, Anàlisi factorial, medicine, Original Research, Psychiatry, Phonic Tic, Tourette syndrome, Gold standard, Discriminant validity, Gold standard (test), medicine.disease, Confirmatory factor analysis, 030227 psychiatry, Psychiatry and Mental health, Síndrome de Gilles de la Tourette, Scale (social sciences), Or patró, Clinical Global Impression, Chronic Tic Disorder, Factor analysis, Psicometria, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract

The Yale Global Tic Severity Scale (YGTSS) is a clinician-rated instrument considered as the gold standard for assessing tics in patients with Tourette's Syndrome and other tic disorders. Previous psychometric investigations of the YGTSS exhibit different limitations such as small sample sizes and insufficient methods. To overcome these shortcomings, we used a subsample of the large-scale “European Multicentre Tics in Children Study” (EMTICS) including 706 children and adolescents with a chronic tic disorder and investigated convergent, discriminant and factorial validity, as well as internal consistency of the YGTSS. Our results confirm acceptable convergent and good to very good discriminant validity, respectively, indicated by a sufficiently high correlation of the YGTSS total tic score with the Clinical Global Impression Scale for tics (rs = 0.65) and only low to medium correlations with clinical severity ratings of attention deficit/hyperactivity symptoms (rs = 0.24), obsessive–compulsive symptoms (rs = 27) as well as internalizing symptoms (rs = 0.27). Internal consistency was found to be acceptable (Ω = 0.58 for YGTSS total tic score). A confirmatory factor analysis supports the concept of the two factors “motor tics” and “phonic tics,” but still demonstrated just a marginal model fit (root mean square error of approximation = 0.09 [0.08; 0.10], comparative fit index = 0.90, and Tucker Lewis index = 0.87). A subsequent analysis of local misspecifications revealed correlated measurement errors, suggesting opportunities for improvement regarding the item wording. In conclusion, our results indicate acceptable psychometric quality of the YGTSS. However, taking the wide use and importance of the YGTSS into account, our results suggest the need for further investigations and improvements of the YGTSS. In addition, our results show limitations of the global severity score as a sum score indicating that the separate use of the total tic score and the impairment rating is more beneficial.

Published
2021

6. 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

7. The Premonitory Urge for Tics Scale in a large sample of children and adolescents:psychometric properties in a developmental context. An EMTICS study

Author

Openneer, Thaïra J.C., Tárnok, Zsanett, Bognar, Emese, Benaroya-Milshtein, Noa, Garcia-Delgar, Blanca, Morer, Astrid, Steinberg, Tamar, Hoekstra, Pieter J., Dietrich, Andrea, Apter, Alan, Baglioni, Valentina, Ball, Juliane, Bodmer, Benjamin, Burger, Bianka, Buse, Judith, Cardona, Francesco, Correa Vela, Marta, Debes, Nanette M., Ferro, Maria Cristina, Fremer, Carolin, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J., Heyman, Isobel, Huyser, Chaim, Madruga-Garrido, Marcos, Marotta, Anna, Mir, Pablo, Müller, Norbert, Müller-Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Pellico, Alessandra, Plessen, Kerstin J., Porcelli, Cesare, Redondo, Marina, Rizzo, Renata, Roessner, Veit, Ruhrman, Daphna, Schnell, Jaana M.L., Silvestri, Paola Rosaria, Skov, Liselotte, Tagwerker Gloor, Friederike, Tübing, Jennifer, Turner, Victoria L., Visscher, Frank, and the EMTICS collaborative group, Apter, A., Baglioni, V., Ball, J., Benaroya-Milshtein, N., Bodmer, B., Bognar, E., Burger, B., Buse, J., Cardona, F., Correa Vela, M., Debes, N.M., Dietrich, A., Ferro, M.C., Fremer, C., Garcia-Delgar, B., Gulisano, M., Hagen, A., Hagstrøm, J., Hedderly, T.J., Heyman, I., Hoekstra, P.J., Huyser, C., Madruga-Garrido, M., Marotta, A., Mir, P., Morer, A., Müller, N., Müller-Vahl, K., Münchau, A., Nagy, P., Neri, V., Openneer, TJC, Pellico, A., Plessen, K.J., Porcelli, C., Redondo, M., Rizzo, R., Roessner, V., Ruhrman, D., Schnell, JML, Silvestri, P.R., Skov, L., Steinberg, T., Tagwerker Gloor, F., Tárnok, Z., Tübing, J., Turner, V.L., Visscher, F., ANS - Cellular & Molecular Mechanisms, Child Psychiatry, ANS - Amsterdam Neuroscience, and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
Sensory phenomena, Male, Tourette syndrome, THERAPY, Severity of Illness Index, Obsessive-compulsive symptoms, 0302 clinical medicine, Quality of life, QUALITY-OF-LIFE, Developmental and Educational Psychology, Child and adolescent psychiatry, 030212 general & internal medicine, ADULT PATIENTS, Child, Premonitory Urge for Tics Scale (PUTS), Obsessive–compulsive symptoms, Premonitory urges, Psychometric properties, General Medicine, Original Contribution, Psychiatry and Mental health, Child, Preschool, Female, medicine.symptom, Psychology, Clinical psychology, medicine.medical_specialty, Tics, Adolescent, Psychometrics, DISORDERS, QUESTIONNAIRE, Context (language use), 03 medical and health sciences, OBSESSIVE-COMPULSIVE SCALE, medicine, SENSORY PHENOMENA, Humans, TOURETTE-SYNDROME, HABIT REVERSAL, Reproducibility of Results, medicine.disease, SEVERITY, Sample size determination, Tic Disorders, Pediatrics, Perinatology and Child Health, Chronic Tic Disorder, 030217 neurology & neurosurgery
Abstract

Premonitory urges are uncomfortable physical sensations preceding tics that occur in most individuals with a chronic tic disorder. The Premonitory Urge for Tics Scale (PUTS) is the most frequently used self-report measure to assess the severity of premonitory urges. We aimed to evaluate the psychometric properties of the PUTS in the largest sample size to date (n = 656), in children aged 3–16 years, from the baseline measurement of the longitudinal European Multicenter Tics in Children Study (EMTICS). Our psychometric evaluation was done in three age-groups: children aged 3–7 years (n = 103), children between 8 and 10 years (n = 253), and children aged 11–16 years (n = 300). The PUTS exhibited good internal reliability in children and adolescents, also under the age of 10, which is younger than previously thought. We observed significant but small correlations between the severity of urges and severity of tics and obsessive–compulsive symptoms, and between severity of urges and ratings of attention-deficit/hyperactivity disorder and internalizing and externalizing behaviors, however, only in children of 8–10 years. Consistent with previous results, the 10th item of the PUTS correlated less with the rest of the scale compared to the other items and, therefore, should not be used as part of the questionnaire. We found a two-factor structure of the PUTS in children of 11 years and older, distinguishing between sensory phenomena related to tics, and mental phenomena as often found in obsessive–compulsive disorder. The age-related differences observed in this study may indicate the need for the development of an age-specific questionnaire to assess premonitory urges. Electronic supplementary material The online version of this article (10.1007/s00787-019-01450-1) contains supplementary material, which is available to authorized users.

Published
2020

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