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1. Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Barr, Cathy L., Batterson, James R., Berlin, Cheston, Budman, Cathy L., Coppola, Giovanni, Cox, Nancy J., Darrow, Sabrina, Dion, Yves, Freimer, Nelson B., Grados, Marco A., Greenberg, Erica, Hirschtritt, Matthew E., Huang, Alden Y., Illmann, Cornelia, King, Robert A., Kurlan, Roger, Leckman, James F., Lyon, Gholson J., Malaty, Irene A., McMahon, William M., Neale, Benjamin M., Okun, Michael S., Osiecki, Lisa, Robertson, Mary M., Rouleau, Guy A., Sandor, Paul, Singer, Harvey S., Smit, Jan H., Sul, Jae Hoon, Androutsos, Christos, Basha, Entela, Farkas, Luca, Fichna, Jakub, Janik, Piotr, Kapisyzi, Mira, Karagiannidis, Iordanis, Koumoula, Anastasia, Nagy, Peter, Puchala, Joanna, Szejko, Natalia, Szymanska, Urszula, Tsironi, Vaia, Apter, Alan, Ball, Juliane, Bodmer, Benjamin, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Garcia-Delgar, Blanca, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Drineas, Petros, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nawaz, Muhammad S., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J.W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Brown, Lawrence W., Cheon, Keun-Ah, Coffey, Barbara J., Fernandez, Thomas V., Gilbert, Donald L., Hong, Hyun Ju, Ibanez-Gomez, Laura, Kim, Eun-Joo, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett L., Maras, Athanasios, Murphy, Tara L., Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, State, Matthew W., Visscher, Frank, Wang, Sheng, Zinner, Samuel H., Tsetsos, Fotis, Topaloudi, Apostolia, Jain, Pritesh, Yang, Zhiyu, Yu, Dongmei, Kolovos, Petros, Tumer, Zeynep, Rizzo, Renata, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Müller-Vahl, Kirsten R., Cath, Danielle C., Boomsma, Dorret I., Wolanczyk, Tomasz, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Padmanabhuni, Shanmukha S., Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Yannaki, Evangelia, Stamatoyannopoulos, John A., Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Mir, Pablo, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Roessner, Veit, Walitza, Susanne, Schrag, Anette, Martino, Davide, Tischfield, Jay A., Heiman, Gary A., Willsey, A. Jeremy, Dietrich, Andrea, Davis, Lea K., Crowley, James J., Mathews, Carol A., Scharf, Jeremiah M., Georgitsi, Marianthi, Hoekstra, Pieter J., and Paschou, Peristera

Published
2024
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4. Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome

Author

Tsetsos, Fotis, primary, Topaloudi, Apostolia, additional, Jain, Pritesh, additional, Yang, Zhiyu, additional, Yu, Dongmei, additional, Kolovos, Petros, additional, Tumer, Zeynep, additional, Rizzo, Renata, additional, Hartmann, Andreas, additional, Depienne, Christel, additional, Worbe, Yulia, additional, Müller-Vahl, Kirsten R., additional, Cath, Danielle C., additional, Boomsma, Dorret I., additional, Wolanczyk, Tomasz, additional, Zekanowski, Cezary, additional, Barta, Csaba, additional, Nemoda, Zsofia, additional, Tarnok, Zsanett, additional, Padmanabhuni, Shanmukha S., additional, Buxbaum, Joseph D., additional, Grice, Dorothy, additional, Glennon, Jeffrey, additional, Stefansson, Hreinn, additional, Hengerer, Bastian, additional, Yannaki, Evangelia, additional, Stamatoyannopoulos, John A., additional, Benaroya-Milshtein, Noa, additional, Cardona, Francesco, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Huyser, Chaim, additional, Mir, Pablo, additional, Morer, Astrid, additional, Mueller, Norbert, additional, Munchau, Alexander, additional, Plessen, Kerstin J., additional, Porcelli, Cesare, additional, Roessner, Veit, additional, Walitza, Susanne, additional, Schrag, Anette, additional, Martino, Davide, additional, Tischfield, Jay A., additional, Heiman, Gary A., additional, Willsey, A. Jeremy, additional, Dietrich, Andrea, additional, Davis, Lea K., additional, Crowley, James J., additional, Mathews, Carol A., additional, Scharf, Jeremiah M., additional, Georgitsi, Marianthi, additional, Hoekstra, Pieter J., additional, Paschou, Peristera, additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Budman, Cathy L., additional, Coppola, Giovanni, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Greenberg, Erica, additional, Hirschtritt, Matthew E., additional, Huang, Alden Y., additional, Illmann, Cornelia, additional, King, Robert A., additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, McMahon, William M., additional, Neale, Benjamin M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan H., additional, Sul, Jae Hoon, additional, Androutsos, Christos, additional, Basha, Entela, additional, Farkas, Luca, additional, Fichna, Jakub, additional, Janik, Piotr, additional, Kapisyzi, Mira, additional, Karagiannidis, Iordanis, additional, Koumoula, Anastasia, additional, Nagy, Peter, additional, Puchala, Joanna, additional, Szejko, Natalia, additional, Szymanska, Urszula, additional, Tsironi, Vaia, additional, Apter, Alan, additional, Ball, Juliane, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Buse, Judith, additional, Vela, Marta Correa, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Madruga-Garrido, Marcos, additional, Pellico, Alessandra, additional, Ruhrman, Daphna, additional, Schnell, Jaana, additional, Silvestri, Paola Rosaria, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Gloor, Friederike Tagwerker, additional, Turner, Victoria L., additional, Weidinger, Elif, additional, Alexander, John, additional, Aranyi, Tamas, additional, Buisman, Wim R., additional, Buitelaar, Jan K., additional, Driessen, Nicole, additional, Drineas, Petros, additional, Fan, Siyan, additional, Forde, Natalie J., additional, Gerasch, Sarah, additional, van den Heuvel, Odile A., additional, Jespersgaard, Cathrine, additional, Kanaan, Ahmad S., additional, Möller, Harald E., additional, Nawaz, Muhammad S., additional, Nespoli, Ester, additional, Pagliaroli, Luca, additional, Poelmans, Geert, additional, Pouwels, Petra J.W., additional, Rizzo, Francesca, additional, Veltman, Dick J., additional, van der Werf, Ysbrand D., additional, Widomska, Joanna, additional, Zilhäo, Nuno R., additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Fernandez, Thomas V., additional, Gilbert, Donald L., additional, Hong, Hyun Ju, additional, Ibanez-Gomez, Laura, additional, Kim, Eun-Joo, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Leventhal, Bennett L., additional, Maras, Athanasios, additional, Murphy, Tara L., additional, Shin, Eun-Young, additional, Song, Dong-Ho, additional, Song, Jungeun, additional, State, Matthew W., additional, Visscher, Frank, additional, Wang, Sheng, additional, and Zinner, Samuel H., additional

Published
2023
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5. Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome

Author

Jain, Pritesh, Miller-Fleming, Tyne, Topaloudi, Apostolia, Yu, Dongmei, Drineas, Petros, Georgitsi, Marianthi, Yang, Zhiyu, Rizzo, Renata, Müller-Vahl, Kirsten R., Tumer, Zeynep, Mol Debes, Nanette, Hartmann, Andreas, Depienne, Christel, Worbe, Yulia, Mir, Pablo, Cath, Danielle C., Boomsma, Dorret I., Roessner, Veit, Wolanczyk, Tomasz, Janik, Piotr, Szejko, Natalia, Zekanowski, Cezary, Barta, Csaba, Nemoda, Zsofia, Tarnok, Zsanett, Buxbaum, Joseph D., Grice, Dorothy, Glennon, Jeffrey, Stefansson, Hreinn, Hengerer, Bastian, Benaroya-Milshtein, Noa, Cardona, Francesco, Hedderly, Tammy, Heyman, Isobel, Huyser, Chaim, Morer, Astrid, Mueller, Norbert, Munchau, Alexander, Plessen, Kerstin J., Porcelli, Cesare, Walitza, Susanne, Schrag, Anette, Martino, Davide, Dietrich, Andrea, Mathews, Carol A., Scharf, Jeremiah M., Hoekstra, Pieter J., Davis, Lea K., Paschou, Peristera, Als, Thomas D., Aschauer, Harald, Atzmon, Gil, Bækvad-Hansen, Matie, Barr, Cathy L., Barzilai, Nir, Batterson, James R., Batterson, Robert, Benarroch, Fortu, Berlin, Cheston, Boberg, Julia, Bodmer, Benjamin, Bohnenpoll, Julia, Børglum, Anders D., Brown, Lawrence W., Bruun, Ruth, Budman, Cathy L., Buckner, Randy L., Bybjerg-Grauholm, Jonas, Cheon, Keun-Ah, Chouinard, Sylvain, Coffey, Barbara J., Coppola, Giovanni, Crowley, James J., Dahl, Niklas, Darrow, Sabrina M., Daly, Mark J., De Rubeis, Silvia, Dion, Yves, Djurfeldt, Diana R., Domenech-Salgado, Laura, Eapen, Valsamma, Elzerman, Lonneke, Fernandez, Thomas V., Freimer Carolin Fremer, Nelson B., Garcia-Delgar, Blanca, Garrido, Marcos, Gilbert, Donald L., Giusti-Rodriguez, Paola, Grados, Marco, Greenberg, Erica, Grove, Jakob, Hagstrom, Julie, Halvorsen, Matt, Hansen, Bjarne, Haavik, Jan, Hebebrand, Johannes, Heiman, Gary A., Herrera, Luis, Hinney, Anke, Hirschtritt, Matthew E., Sul, Jae Hoon, Hong, Hyun Ju, Hougaard, David M., Huang, Alden Y., Ibanez-Gomez, Laura, Ivankovic, Franjo, Jankovic, Joseph, Karlsson, Elinor K., Kaprio, Jakko A., Kim, Young Key, Kim, Young-Shin, King, Robert A., Knowles, James A., Koh, Yun-Joo, Kook, Sodham, Khalifa, Najah, Konstantinidis, Anastasios, Kuperman, Samuel, Kurlan, Roger, Kvale, Gerd, Leckman, James, Lee, Paul C., Leventhal, Bennett, Lichtenstein, Paul, Lindbald-Toh, Kerstin, Lowe, Thomas, Ludolph, Andrea, da Silva, Claudia Luhrs, Luðvigsson, Pétur, Luykx, Jurjen, Lyon, Gholson J., Mahjani, Behrang, Maras, Athanasios, Mataix-Cols, David, Mattheisen, Manuel, Malaty, Irene A., McMahon, William M., McQuillin, Andrew, Meier, Sandra M., Moessner, Rainald, Mortensen, Preben B., Mors, Ole, Mudgal, Poorva, Nagy, Peter, Naarden, Allan, Neale, Benjamin M., Nawaz, Muhammad S., Nissen, Judith Becker, Nöthen Merete Nordentoft, Markus M., Nordsletten, Ashley E., Okun, Michael S., Ophoff, Roel, Osiecki, Lisa, Palotie, Aarno, Palviainen, Teemu P., Pato Michele T. Pato, Carlos N., Pittenger, Christopher, Pollak, Yehuda, Posthuma, Danielle, Ramos, Eliana, Reichert, Jennifer, Robertson, Mary M., Roffman, Joshua L., Rouleau, Guy, Rück, Christian, Sæmundsen, Evald, Samuels, Jack, Sandin, Sven, Sandor, Paul, Schlögelhofer, Monika, Shin, Eun-Young, Singer, Harvey S., Smit, Jan, Smoller, Jordan W., State, Matthew, Solem, Stian, Song, Dong-Ho, Song, Jungeun, Stamenkovic, Mara, Stefansson, Kári, Strom, Nora, Stuhrmann, Manfred, Szatkiewicz, Jin, Szymanska, Urszula, Tischfield, Jay A., Tsetsos, Fotis, Thorarensen, Ólafur, Tubing, Jennifer, Visscher, Frank, Wagner, Michael, Wanderer, Sina, Wang, Sheng, Werge, Thomas, Willsey, Jeremy A., Wolancyk, Tomasz, Woods, Douglas W., Woods, Martin, Zelaya, Ivette, Zinner, Samuel H., Apter, Alan, Ball, Juliane, Bognar, Emese, Buse, Judith, Vela, Marta Correa, Fremer, Carolin, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Madruga-Garrido, Marcos, Pellico, Alessandra, Ruhrman, Daphna, Schnell, Jaana, Silvestri, Paola Rosaria, Skov, Liselotte, Steinberg, Tamar, Gloor, Friederike Tagwerker, Turner, Victoria L., Weidinger, Elif, Alexander, John, Aranyi, Tamas, Buisman, Wim R., Buitelaar, Jan K., Driessen, Nicole, Fan, Siyan, Forde, Natalie J., Gerasch, Sarah, van den Heuvel, Odile A., Jespersgaard, Cathrine, Kanaan, Ahmad S., Möller, Harald E., Nespoli, Ester, Pagliaroli, Luca, Poelmans, Geert, Pouwels, Petra J. W., Rizzo, Francesca, Veltman, Dick J., van der Werf, Ysbrand D., Widomska, Joanna, Zilhäo, Nuno R., Biological Psychology, Amsterdam Reproduction & Development, APH - Mental Health, APH - Methodology, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Dynamic Earth and Resources, and Clinical Cognitive Neuropsychiatry Research Program (CCNP)

Subjects
Male, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Medizin, Autism Spectrum Disorder/genetics, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Diabetes Mellitus, Type 2, Risk Factors, Diabetes Mellitus, Tourette Syndrome/genetics, Humans, Female, Attention Deficit Disorder with Hyperactivity/genetics, Type 2, Biological Psychiatry
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. 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

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

Author

Buse, Judith, Rothe, Josefine, Uhlmann, Anne, Bodmer, Benjamin, Kirschbaum, Clemens, Hoekstra, Pieter J., Dietrich, Andrea, Roessner, Veit, EMTICS collaborative group, Apter, Alan, Baglioni, Valentina, Ball, Juliane, Benaroya-Milshtein, Noa, Bognar, Emese, Burger, Bianka, Cardona, Francesco, Vela, Marta Correa, Ferro, Maria Cristina, Garcia-Delgar, Blanca, and Gulisano, Mariangela

Subjects
CROSS-sectional method, TOURETTE syndrome, BEHAVIOR disorders in children, TIC disorders, HAIR, EMOTIONS, HYDROCORTISONE, LONGITUDINAL method, CHILDREN
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. [ABSTRACT FROM AUTHOR]

Published
2022
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13. Enrichment and Correlation Analysis of Serum miRNAs in Comorbidity Between Arnold-Chiari and Tourette Syndrome Contribute to Clarify Their Molecular Bases

Author

Mirabella, Federica, primary, Gulisano, Mariangela, additional, Capelli, Mara, additional, Lauretta, Giovanni, additional, Cirnigliaro, Matilde, additional, Palmucci, Stefano, additional, Stella, Michele, additional, Barbagallo, Davide, additional, Di Pietro, Cinzia, additional, Purrello, Michele, additional, Ragusa, Marco, additional, and Rizzo, Renata, additional

Published
2021
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14. 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

16. Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort

Author

Anastasiou, Zacharias, Apter, Alan, Bartolini, Erika, Benaroya-Milshtein, Noa, Bodmer, Benjamin, Bognar, Emese, Burger, Bianka, Correa Vela, Marta, Creti, Roberta, Dietrich, Andrea, Debes, Nanette M., Efstratiou, Androulla, Cristina Ferro, Maria, Fremer, Carolin, Garcia-Delgar, Blanca, Gariup, Maria, Georgitsi, Marianthi, Gulisano, Mariangela, Hagen, Annelieke, Hagstrøm, Julie, Hedderly, Tammy J., Heyman, Isobel, Hoekstra, Pieter J., Huyser, Chaim, Imperi, Monica, Karagiannidis, Iordanis, Laviola, Giovanni, Macri, Simone, Madruga-Garrido, Marcos, Margarit, Immaculada, Marotta, Anna, Martino, Davide, Meier, Ute C., Mir, Pablo, Moll, Natalie, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Nagy, Peter, Neri, Valeria, Openneer, Thaïra J.C., Orefici, Graziella, Paschou, Peristera, Pellico, Alessandra, Porcelli, Cesare, Redondo, Marina, Rizzo, Renata, Roazzi, Paolo, Roessner, Veit, Ruhrman, Daphna, Schnell, Jaana M.L., Schrag, Anette, Schütze, Gregor A., Schwarz, Markus J., Rosaria Silvestri, Paola, Skov, Liselotte, Steinberg, Tamar, Stöber, Sara, Tallon, Marco, Tarnok, Zsanett, Baglioni, V., Coutinho, E., Menassa, D.A., Giannoccaro, M.P., Jacobson, L., Buttiglione, M., Petruzzelli, O., Cardona, F., and Vincent, A.

Published
2019
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20. Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center

Author

Barone, Rita, primary, Gulisano, Mariangela, additional, Cannata, Emanuela, additional, Padalino, Sara, additional, Saia, Federica, additional, Maugeri, Nicoletta, additional, Pettinato, Fabio, additional, Lo Nigro, Luca, additional, Casabona, Antonino, additional, Russo, Giovanna, additional, Di Cataldo, Andrea, additional, and Rizzo, Renata, additional

Published
2020
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23. Potential Associations Among Alteration of Salivary miRNAs, Saliva Microbiome Structure, and Cognitive Impairments in Autistic Children

Author

Ragusa, Marco, primary, Santagati, Maria, additional, Mirabella, Federica, additional, Lauretta, Giovanni, additional, Cirnigliaro, Matilde, additional, Brex, Duilia, additional, Barbagallo, Cristina, additional, Domini, Carla Noemi, additional, Gulisano, Mariangela, additional, Barone, Rita, additional, Trovato, Laura, additional, Oliveri, Salvatore, additional, Mongelli, Gino, additional, Spitale, Ambra, additional, Barbagallo, Davide, additional, Di Pietro, Cinzia, additional, Stefani, Stefania, additional, Rizzo, Renata, additional, and Purrello, Michele, additional

Published
2020
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24. Disentangling Restrictive and Repetitive Behaviors and Social Impairments in Children and Adolescents with Gilles de la Tourette Syndrome and Autism Spectrum Disorder

Author

Gulisano, Mariangela, primary, Barone, Rita, additional, Alaimo, Salvatore, additional, Ferro, Alfredo, additional, Pulvirenti, Alfredo, additional, Cirnigliaro, Lara, additional, Di Silvestre, Selena, additional, Martellino, Serena, additional, Maugeri, Nicoletta, additional, Milana, Maria Chiara, additional, Scerbo, Miriam, additional, and Rizzo, Renata, additional

Published
2020
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29. Antibodies to neuronal surface proteins in Tourette Syndrome: Lack of evidence in a European paediatric cohort

Author

Baglioni, V., primary, Coutinho, E., additional, Menassa, D.A., additional, Giannoccaro, M.P., additional, Jacobson, L., additional, Buttiglione, M., additional, Petruzzelli, O., additional, Cardona, F., additional, Vincent, A., additional, Anastasiou, Zacharias, additional, Apter, Alan, additional, Bartolini, Erika, additional, Benaroya-Milshtein, Noa, additional, Bodmer, Benjamin, additional, Bognar, Emese, additional, Burger, Bianka, additional, Correa Vela, Marta, additional, Creti, Roberta, additional, Dietrich, Andrea, additional, Debes, Nanette M., additional, Efstratiou, Androulla, additional, Cristina Ferro, Maria, additional, Fremer, Carolin, additional, Garcia-Delgar, Blanca, additional, Gariup, Maria, additional, Georgitsi, Marianthi, additional, Gulisano, Mariangela, additional, Hagen, Annelieke, additional, Hagstrøm, Julie, additional, Hedderly, Tammy J., additional, Heyman, Isobel, additional, Hoekstra, Pieter J., additional, Huyser, Chaim, additional, Imperi, Monica, additional, Karagiannidis, Iordanis, additional, Laviola, Giovanni, additional, Macri, Simone, additional, Madruga-Garrido, Marcos, additional, Margarit, Immaculada, additional, Marotta, Anna, additional, Martino, Davide, additional, Meier, Ute C., additional, Mir, Pablo, additional, Moll, Natalie, additional, Morer, Astrid, additional, Müller-Vahl, Kirsten, additional, Münchau, Alexander, additional, Nagy, Peter, additional, Neri, Valeria, additional, Openneer, Thaïra J.C., additional, Orefici, Graziella, additional, Paschou, Peristera, additional, Pellico, Alessandra, additional, Porcelli, Cesare, additional, Redondo, Marina, additional, Rizzo, Renata, additional, Roazzi, Paolo, additional, Roessner, Veit, additional, Ruhrman, Daphna, additional, Schnell, Jaana M.L., additional, Schrag, Anette, additional, Schütze, Gregor A., additional, Schwarz, Markus J., additional, Rosaria Silvestri, Paola, additional, Skov, Liselotte, additional, Steinberg, Tamar, additional, Stöber, Sara, additional, Tallon, Marco, additional, and Tarnok, Zsanett, additional

Published
2019
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32. Neurodevelopmental outcomes of neonatal non‐epileptic paroxysmal events: a prospective study.

Author

Romano, Catia, Giacchi, Valentina, Mauceri, Laura, Pavone, Piero, Taibi, Rosaria, Gulisano, Mariangela, Rizzo, Renata, Ruggieri, Martino, and Falsaperla, Raffaele

Subjects
INFANTS, LONGITUDINAL method, NEWBORN infants, AGE of onset, UNIVERSITY hospitals
Abstract

Aim: To report on psychomotor development and outcomes in term born neonates with non‐epileptic paroxysmal events (NEPEs). Method: From October 2017 to March 2019 we enrolled 38 consecutive term born neonates (22 males, 16 females; aged between 0–28d), born at the University Hospital San Marco in Catania, Italy, with NEPEs. We performed the Hammersmith Neonatal Neurological Examination scale (at enrolment), the Hammersmith Infant Neurological Examination (HINE) scale (at age 3, 6, 9, and 12mo), and the Griffiths scale (at age 12mo). Results: The age at onset of first paroxysmal manifestations ranged from birth to 4 days. We recorded a suboptimal global score in 18 out of 38 patients at enrolment and in 10 out of 38 patients at age 3 months (>70% of these infants were male); all events disappeared within 6 months of life. At age 6, 9, and 12 months, all infants scored within normal values on the HINE and Griffiths scale. Interpretation: Patients with NEPEs achieve neurodevelopment optimal scores within their first year of life. What this paper adds: Neonates experiencing non‐epileptic paroxysmal events (NEPEs) can be examined with the Hammersmith Neonatal Neurological Examination, Hammersmith Infant Neurological Examination, and Griffiths scale at follow‐up.Newborn infants with NEPEs achieve optimal scores within the first year of life. What this paper adds: Neonates experiencing non‐epileptic paroxysmal events (NEPEs) can be examined with the Hammersmith Neonatal Neurological Examination, Hammersmith Infant Neurological Examination, and Griffiths scale at follow‐up.Newborn infants with NEPEs achieve optimal scores within the first year of life. [ABSTRACT FROM AUTHOR]

Published
2021
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33. Treatment options for tic disorders.

Author

Rizzo, Renata and Gulisano, Mariangela

Abstract

Introduction: Gilles de la Tourette syndrome (GTS) is a neurodevelopmental disorder, characterized by the presence of multiple motor and, at least one, phonic tics, for more than one year, beginning before 18 years of age; its treatment is often a challenge for the clinician Areas covered: GTS treatment requires a multidisciplinary management to treat each patient's symptom. Although individuals with GTS often have comorbid psychiatric disorders, the focus of this review will only be on the management of tics. Expert opinion: The authors summarized the steps that clinicians should follow treating GTS patient; the impact of the tics on a patients' life should be the first step; different patients could present different levels of tolerance to the symptoms. Second, comorbidities should be considered before starting a treatment for tic. Finally, clinicians must focus the attention of the patient and family, on the length of the treatment and the duration of time after which the effects of the drug will occur. Before the treatment, the potential side effects must be mentioned to the parents, and the choice of treatment must be made in the light of the patient's tolerance to these. [ABSTRACT FROM AUTHOR]

Published
2020
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39. Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

Author

Bertelsen, Birgitte, primary, Stefánsson, Hreinn, additional, Riff Jensen, Lars, additional, Melchior, Linea, additional, Mol Debes, Nanette, additional, Groth, Camilla, additional, Skov, Liselotte, additional, Werge, Thomas, additional, Karagiannidis, Iordanis, additional, Tarnok, Zsanett, additional, Barta, Csaba, additional, Nagy, Peter, additional, Farkas, Luca, additional, Brøndum-Nielsen, Karen, additional, Rizzo, Renata, additional, Gulisano, Mariangela, additional, Rujescu, Dan, additional, Kiemeney, Lambertus A., additional, Tosato, Sarah, additional, Nawaz, Muhammad Sulaman, additional, Ingason, Andres, additional, Unnsteinsdottir, Unnur, additional, Steinberg, Stacy, additional, Ludvigsson, Pétur, additional, Stefansson, Kari, additional, Kuss, Andreas Walter, additional, Paschou, Peristera, additional, Cath, Danielle, additional, Hoekstra, Pieter J., additional, Müller-Vahl, Kirsten, additional, Stuhrmann, Manfred, additional, Silahtaroglu, Asli, additional, Pfundt, Rolph, additional, and Tümer, Zeynep, additional

Published
2016
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43. Circulating miRNAs profiles in tourette syndrome: molecular data and clinical implications

Author

Rizzo, Renata, primary, Ragusa, Marco, additional, Barbagallo, Cristina, additional, Sammito, Mariangela, additional, Gulisano, Mariangela, additional, Calì, Paola V, additional, Pappalardo, Claudio, additional, Barchitta, Martina, additional, Granata, Mariagrazia, additional, Condorelli, Angelo G, additional, Barbagallo, Davide, additional, Scalia, Marina, additional, Agodi, Antonella, additional, Di Pietro, Cinzia, additional, and Purrello, Michele, additional

Published
2015
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45. The Relationship between Autism Spectrum Disorder and Tourette Syndrome in Childhood: An Overview of Shared Characteristics.

Author

Rizzo, Renata, Gulisano, Mariangela, Domini, Carla Noemi, Ferro, Maria Cristina, and Curatolo, Paolo

Subjects
DIAGNOSIS of autism, GENETICS of autism, AUTISM, NEURORADIOLOGY, COMORBIDITY, SYMPTOMS, TOURETTE syndrome, GENETICS, DIAGNOSIS
Abstract

Autism spectrum disorder (ASD) and Tourette syndrome (TS) are neurodevelopmental disorders. ASD and TS are traditionally considered to be separate conditions. Nevertheless, these disorders have a high degree of overlap, and "pure" cases are rare in both clinical and population-based studies. The aim of the present review was to analyze the similarities and differences between ASD and TS on the basis of genetic and neuroradiological findings. [ABSTRACT FROM AUTHOR]

Published
2017
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49. Timing recalibration in childhood Tourette syndrome associated with persistent pimozide treatment.

Author

Vicario, Carmelo M., Gulisano, Mariangela, Martino, Davide, and Rizzo, Renata

Subjects
*TOURETTE syndrome in children, *PIMOZIDE, *ANTIPSYCHOTIC agents, *PHYSIOLOGICAL effects of dopamine, *VISUAL perception
Abstract

In this study, we have tested the effects of the dopamine D2 receptor blocker pimozide on timing performance in patients with Tourette syndrome ( TS). Nine children with TS were tested off-medication and following 3 months of daily treatment with pimozide. Subjects completed a time reproduction and a time production task using supra-second temporal intervals. We show that pimozide improves motor timing performance by reducing the patients' variability in reproducing the duration of visual stimuli. On the other hand, this medication has no effect on the reproduction accuracy and on both variability and accuracy of the performance on the time production task. Our results suggest that pimozide might have improved motor timing variability as a result of its beneficial side effect on endogenous dopamine levels (i.e., normalization). [ABSTRACT FROM AUTHOR]

Published
2016
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