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1. Investigation of gene-environment interactions in relation to tic severity.

Author

Abdulkadir, Mohamed, Yu, Dongmei, Osiecki, Lisa, King, Robert A, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hagstrøm, Julie, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett, Madruga-Garrido, Marcos, Maras, Athanasios, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Plessen, Kerstin J, Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Visscher, Frank, Zinner, Samuel H, Mathews, Carol A, Scharf, Jeremiah M, Tischfield, Jay A, Heiman, Gary A, Dietrich, Andrea, and Hoekstra, Pieter J

Subjects
Humans, Tourette Syndrome, Tics, Severity of Illness Index, Attention Deficit Disorder with Hyperactivity, Pregnancy, Female, Genome-Wide Association Study, Gene-Environment Interaction, Autism Spectrum Disorder, Gene–environment interaction, Pre- and perinatal complications, Tic severity, Tourette syndrome, Mental Health, Autism, Genetics, Pediatric, Neurosciences, Serious Mental Illness, Brain Disorders, Human Genome, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Mental health, Gene-environment interaction, Psychology, Neurology & Neurosurgery
Abstract

Tourette syndrome (TS) is a neuropsychiatric disorder with involvement of genetic and environmental factors. We investigated genetic loci previously implicated in Tourette syndrome and associated disorders in interaction with pre- and perinatal adversity in relation to tic severity using a case-only (N = 518) design. We assessed 98 single-nucleotide polymorphisms (SNPs) selected from (I) top SNPs from genome-wide association studies (GWASs) of TS; (II) top SNPs from GWASs of obsessive-compulsive disorder (OCD), attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorder (ASD); (III) SNPs previously implicated in candidate-gene studies of TS; (IV) SNPs previously implicated in OCD or ASD; and (V) tagging SNPs in neurotransmitter-related candidate genes. Linear regression models were used to examine the main effects of the SNPs on tic severity, and the interaction effect of these SNPs with a cumulative pre- and perinatal adversity score. Replication was sought for SNPs that met the threshold of significance (after correcting for multiple testing) in a replication sample (N = 678). One SNP (rs7123010), previously implicated in a TS meta-analysis, was significantly related to higher tic severity. We found a gene-environment interaction for rs6539267, another top TS GWAS SNP. These findings were not independently replicated. Our study highlights the future potential of TS GWAS top hits in gene-environment studies.

Published
2021

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

Author

Abdulkadir, Mohamed, Londono, Douglas, Gordon, Derek, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, Elzerman, Lonneke, Fremer, Carolin, Fründt, Odette, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Jakubovski, Ewgeni, Kim, Young Key, Kim, Young Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Leventhal, Bennett, Ludolph, Andrea G, Madruga-Garrido, Marcos, Maras, Athanasios, Mir, Pablo, Morer, Astrid, Müller-Vahl, Kirsten, Münchau, Alexander, Murphy, Tara L, Plessen, Kerstin J, Roessner, Veit, Shin, Eun-Young, Song, Dong-Ho, Song, Jungeun, Tübing, Jennifer, van den Ban, Els, Visscher, Frank, Wanderer, Sina, Woods, Martin, Zinner, Samuel H, King, Robert A, Tischfield, Jay A, Heiman, Gary A, Hoekstra, Pieter J, and Dietrich, Andrea

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical Sciences, Neurosciences, Psychology, Brain Disorders, Autism, Genetics, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Tourette Syndrome, Neurodegenerative, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Child, Child, Preschool, Family Health, Female, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Male, Microtubule-Associated Proteins, Middle Aged, Polymorphism, Single Nucleotide, Severity of Illness Index, Tic Disorders, Tryptophan Hydroxylase, Young Adult, Attention-deficit/hyperactivity disorder, Candidate gene study, Obsessive-compulsive disorder, Tourette syndrome, Transmission Disequilibrium Test, Obsessive–compulsive disorder, Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology
Abstract

Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.

Published
2018

5. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

Author

Abdulkadir, Mohamed, Tischfield, Jay A, King, Robert A, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, de Bruijn, Sebastian FTM, Elzerman, Lonneke, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hagstrøm, Julie, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Lamerz, Andreas, Leventhal, Bennett, Ludolph, Andrea G, Madruga-Garrido, Marcos, Maras, Athanasios, Messchendorp, Marieke D, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Murphy, Tara L, Openneer, Thaïra JC, Plessen, Kerstin J, Rath, Judith JG, Roessner, Veit, Fründt, Odette, Shin, Eun-Young, Sival, Deborah A, Song, Dong-Ho, Song, Jungeun, Stolte, Anne-Marie, Tübing, Jennifer, van den Ban, Els, Visscher, Frank, Wanderer, Sina, Woods, Martin, Zinner, Samuel H, State, Matthew W, Heiman, Gary A, Hoekstra, Pieter J, and Dietrich, Andrea

Subjects
Clinical and Health Psychology, Biomedical and Clinical Sciences, Psychology, Mental Health, Tourette Syndrome, Neurosciences, Neurodegenerative, Pediatric, Clinical Research, Attention Deficit Hyperactivity Disorder (ADHD), Infant Mortality, Serious Mental Illness, Perinatal Period - Conditions Originating in Perinatal Period, Preterm, Low Birth Weight and Health of the Newborn, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child, Preschool, Europe, Female, Humans, Male, Middle Aged, Obsessive-Compulsive Disorder, Parent-Child Relations, Pregnancy, Pregnancy Complications, Psychiatric Status Rating Scales, Republic of Korea, Retrospective Studies, Severity of Illness Index, Sex Factors, Tic Disorders, United States, Young Adult, Attention-deficit hyperactivity disorder, Delivery, Obsessive-compulsive disorder, Prenatal, Tourette syndrome, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Clinical and health psychology
Abstract

Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1.46) and severity (b = 2.27) of co-occurring OCD and also to ADHD severity (b = 1.09). Delivery complications were only related to co-occurring OCD (OR = 1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD.

Published
2016

6. The social responsiveness scale in relation to DSM IV and DSM5 ASD in Korean children

Author

Cheon, Keun‐Ah, Park, Jee‐In, Koh, Yun‐Joo, Song, Jungeun, Hong, Hyun‐Joo, Kim, Young‐Kee, Lim, Eun‐Chung, Kwon, Hojang, Ha, Mina, Lim, Myung‐Ho, Paik, Ki‐Chung, Constantino, John N, Leventhal, Bennett, and Kim, Young Shin

Subjects
Biomedical and Clinical Sciences, Applied and Developmental Psychology, Clinical and Health Psychology, Neurosciences, Psychology, Intellectual and Developmental Disabilities (IDD), Mental Health, Clinical Research, Pediatric, Behavioral and Social Science, Brain Disorders, Autism, Mental health, Autism Spectrum Disorder, Child, Child Development Disorders, Pervasive, Cross-Cultural Comparison, Diagnosis, Differential, Diagnostic and Statistical Manual of Mental Disorders, Female, Humans, Male, Mass Screening, Psychometrics, Reproducibility of Results, Republic of Korea, Social Communication Disorder, Korean social responsiveness scale, validity, reliability, DSM IV PDD, DSM5 ASD, Clinical Sciences, Developmental & Child Psychology, Applied and developmental psychology, Clinical and health psychology
Abstract

The Social Responsiveness Scale (SRS) is an autism rating scales in widespread use, with over 20 official foreign language translations. It has proven highly feasible for quantitative ascertainment of autistic social impairment in public health settings, however, little is known about the validity of the reinforcement in Asia populations or in references to DSM5. The current study aims to evaluate psychometric properties and cross-cultural aspects of the SRS-Korean version (K-SRS).The study subjects were ascertained from three samples: a general sample from 3 regular education elementary schools (n=790), a clinical sample (n=154) of 6-12-year-olds from four psychiatric clinics, and an epidemiological sample of children with ASD, diagnosed using both DSM IV PDD, DSM5 ASD and SCD criteria (n=151). Their parents completed the K-SRS and the Autism Spectrum Screening Questionnaire(ASSQ). Descriptive statistics, correlation analyses and principal components analysis (PCA) were performed on the total population. Mean total scores on the K-SRS differed significantly between the three samples. ASSQ scores were significantly correlated with the K-SRS T-scores. PCA suggested a one-factor solution for the total population.Our results indicate that the K-SRS exhibits adequate reliability and validity for measuring ASD symptoms in Korean children with DSM IV PDD and DSM5 ASD. Our findings further suggest that it is difficult to distinguish SCD from other child psychiatric conditions using the K-SRS.This is the first study to examine the relationship between the SRS subscales and DSM5-based clinical diagnoses. This study provides cross-cultural confirmation of the factor structure for ASD symptoms and traits measured by the SRS. Autism Res 2016, 9: 970-980. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Published
2016

7. A Comparison of DSM-IV Pervasive Developmental Disorder and DSM-5 Autism Spectrum Disorder Prevalence in an Epidemiologic Sample

Author

Kim, Young Shin, Fombonne, Eric, Koh, Yun-Joo, Kim, Soo-Jeong, Cheon, Keun-Ah, and Leventhal, Bennett L

Subjects
Mental Health, Behavioral and Social Science, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Clinical Research, Autism, Mental health, Quality Education, Child, Child Development Disorders, Pervasive, Cross-Sectional Studies, Diagnosis, Differential, Diagnostic and Statistical Manual of Mental Disorders, Female, Humans, Male, Republic of Korea, Surveys and Questionnaires, ASD, DSM-5, DSM-IV, SCD, prevalence, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental & Child Psychology
Abstract

ObjectiveChanges in autism diagnostic criteria found in DSM-5 may affect autism spectrum disorder (ASD) prevalence, research findings, diagnostic processes, and eligibility for clinical and other services. Using our published, total-population Korean prevalence data, we compute DSM-5 ASD and social communication disorder (SCD) prevalence and compare them with DSM-IV pervasive developmental disorder (PDD) prevalence estimates. We also describe individuals previously diagnosed with DSM-IV PDD when diagnoses change with DSM-5 criteria.MethodThe target population was all children from 7 to 12 years of age in a South Korean community (N = 55,266), those in regular and special education schools, and a disability registry. We used the Autism Spectrum Screening Questionnaire for systematic, multi-informant screening. Parents of screen-positive children were offered comprehensive assessments using standardized diagnostic procedures, including the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Best-estimate clinical diagnoses were made using DSM-IV PDD and DSM-5 ASD and SCD criteria.ResultsDSM-5 ASD estimated prevalence was 2.20% (95% confidence interval = 1.77-3.64). Combined DSM-5 ASD and SCD prevalence was virtually the same as DSM-IV PDD prevalence (2.64%). Most children with autistic disorder (99%), Asperger disorder (92%), and PDD-NOS (63%) met DSM-5 ASD criteria, whereas 1%, 8%, and 32%, respectively, met SCD criteria. All remaining children (2%) had other psychopathology, principally attention-deficit/hyperactivity disorder and anxiety disorder.ConclusionOur findings suggest that most individuals with a prior DSM-IV PDD meet DSM-5 diagnostic criteria for ASD and SCD. PDD, ASD or SCD; extant diagnostic criteria identify a large, clinically meaningful group of individuals and families who require evidence-based services.

Published
2014

9. Subjective and objective sleep alterations in medication-naïve children and adolescents with autism spectrum disorder: a systematic review and meta-analysis

Author

Kim, Heeyeon, primary, Kim, Jae Han, additional, Kim, Junghwan, additional, Kim, Jong Yeob, additional, Cortese, Samuele, additional, Smith, Lee, additional, Koyanagi, Ai, additional, Radua, Joaquim, additional, Fusar-Poli, Paolo, additional, Carvalho, Andre F., additional, Salazar de Pablo, Gonzalo, additional, Shin, Jae Il, additional, Cheon, Keun-Ah, additional, and Solmi, Marco, additional

Published
2023
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11. 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

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

Author

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

Published
2019
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21. The 1287 G/A polymorphism of the Norepinephrine Transporter gene (NET) is involved in Commission Errors in Korean children with Attention Deficit Hyperactivity Disorder

Author

Cheon Keun-Ah, Song Jungeun, Jhung Kyungun, and Song Dong-Ho

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Previous evidence supports the role of noradrenergic systems in ADHD, and norepinephrine transporter (NET) is critical in regulating the noradrenergic system. The present study aimed to investigate the association between NET gene polymorphism and the performance measures of the Continuous Performance Test (CPT) in Korean ADHD children. Methods Eighty-seven children (mean age = 9.23 ± 1.99 years) with ADHD were recruited from a university hospital. Genotypes of G1287A of the NET gene (SLC6A2) were analyzed. All participants completed the CPT, with performance measures of omission errors, commission errors, reaction time and reaction standardization computed. The relationship between G1287A polymorphisms and CPT performance measures was examined. Results There were 46 subjects with the G/G genotype, 35 subjects with the G/A genotype and 6 subjects with the A/A genotype. Among the three groups, there were no significant differences in the performance of CPTs. When dichotomized according to whether the subjects have the rare allele or not, subjects with the homozygous G/G genotype showed significantly lower commission errors compared to those without G/G genotypes (by independent T-test, t = -2.18, p = 0.026). Discussion Our study found a significant association between commission errors of the CPT and the G1287A genotype of the NET gene in Korean ADHD children. These findings suggest a protective role of the G/G genotype of the NET polymorphisms in the deficits of response inhibition in ADHD children.

Published
2011
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22. Child and adolescent psychiatry in the Far East: A 5‐year follow up on the Consortium on Academic Child and Adolescent Psychiatry in the Far East (CACAP‐FE) study

Author

Hirota, Tomoya, primary, Guerrero, Anthony, additional, Sartorius, Norman, additional, Fung, Daniel, additional, Leventhal, Bennett, additional, Ong, Say H., additional, Kaneko, Hitoshi, additional, Apinuntavech, Suporn, additional, Bennett, Abang, additional, Bhoomikumar, Jegannathan, additional, Cheon, Keun‐Ah, additional, Davaasuren, Oyunsuren, additional, Gau, Susan, additional, Hall, Brian, additional, Koren, Evgeny, additional, van Nguyen, Tuan, additional, Oo, Tin, additional, Tan, Susan, additional, Tateno, Masaru, additional, Thikeo, Manivone, additional, Wiguna, Tjhin, additional, Wong, Mark, additional, Zheng, Yi, additional, and Skokauskas, Norbert, additional

Published
2018
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23. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

Author

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

Published
2018
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24. The social responsiveness scale in relation to DSM IV and DSM5 ASD in Korean children

Author

Cheon, Keun-Ah, Park, Jee-In, Koh, Yun-Joo, Song, Jungeun, Hong, Hyun-Joo, Kim, Young-Kee, Lim, Eun-Chung, Kwon, Hojang, Ha, Mina, Lim, Myung-Ho, Paik, Ki-Chung, Constantino, John N, Leventhal, Bennett, and Kim, Young Shin

Subjects
Cross-Cultural Comparison, Male, Korean social responsiveness scale, validity, Child Development Disorders, Psychometrics, Autism Spectrum Disorder, Autism, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Developmental & Child Psychology, Clinical Research, Diagnosis, Republic of Korea, Behavioral and Social Science, DSM5 ASD, Humans, Mass Screening, Psychology, Child, Social Communication Disorder, Pervasive, Pediatric, reliability, DSM IV PDD, Neurosciences, Reproducibility of Results, Brain Disorders, Diagnostic and Statistical Manual of Mental Disorders, Mental Health, Differential, Female
Abstract

The Social Responsiveness Scale (SRS) is an autism rating scales in widespread use, with over 20 official foreign language translations. It has proven highly feasible for quantitative ascertainment of autistic social impairment in public health settings, however, little is known about the validity of the reinforcement in Asia populations or in references to DSM5. The current study aims to evaluate psychometric properties and cross-cultural aspects of the SRS-Korean version (K-SRS).The study subjects were ascertained from three samples: a general sample from 3 regular education elementary schools (n=790), a clinical sample (n=154) of 6-12-year-olds from four psychiatric clinics, and an epidemiological sample of children with ASD, diagnosed using both DSM IV PDD, DSM5 ASD and SCD criteria (n=151). Their parents completed the K-SRS and the Autism Spectrum Screening Questionnaire(ASSQ). Descriptive statistics, correlation analyses and principal components analysis (PCA) were performed on the total population. Mean total scores on the K-SRS differed significantly between the three samples. ASSQ scores were significantly correlated with the K-SRS T-scores. PCA suggested a one-factor solution for the total population.Our results indicate that the K-SRS exhibits adequate reliability and validity for measuring ASD symptoms in Korean children with DSM IV PDD and DSM5 ASD. Our findings further suggest that it is difficult to distinguish SCD from other child psychiatric conditions using the K-SRS.This is the first study to examine the relationship between the SRS subscales and DSM5-based clinical diagnoses. This study provides cross-cultural confirmation of the factor structure for ASD symptoms and traits measured by the SRS. Autism Res 2016, 9: 970-980. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Published
2016

25. Subjective and objective sleep alterations in medication-naïve children and adolescents with autism spectrum disorder: a systematic review and meta-analysis

Author

Kim, Heeyeon, Kim, Jae Han, Kim, Junghwan, Kim, Jong Yeob, Cortese, Samuele, Smith, Lee, Koyanagi, Ai, Radua, Joaquim, Fusar-Poli, Paolo, Carvalho, Andre F., Salazar de Pablo, Gonzalo, Shin, Jae Il, Cheon, Keun-Ah, and Solmi, Marco

Abstract

AbstractAimsThis study aimed to summarize the evidence on sleep alterations in medication-naïve children and adolescents with autism spectrum disorder (ASD).MethodsWe systematically searched PubMed/Medline, Embase and Web of Science databases from inception through March 22, 2021. This study was registered with PROSPERO (CRD42021243881). Any observational study was included that enrolled medication-naïve children and adolescents with ASD and compared objective (actigraphy and polysomnography) or subjective sleep parameters with typically developing (TD) counterparts. We extracted relevant data such as the study design and outcome measures. The methodological quality was assessed through the Newcastle-Ottawa Scale (NOS). A meta-analysis was carried out using the random-effects model by pooling effect sizes as Hedges’ g. To assess publication bias, Egger’s test and p-curve analysis were done. A priori planned meta-regression and subgroup analysis were also performed to identify potential moderators.ResultsOut of 4277 retrieved references, 16 studies were eligible with 981 ASD patients and 1220 TD individuals. The analysis of objective measures showed that medication-naïve ASD patients had significantly longer sleep latency (Hedges’ g0.59; 95% confidence interval [95% CI] 0.26 to 0.92), reduced sleep efficiency (Hedges’ g−0.58; 95% CI −0.87 to −0.28), time in bed (Hedges’ g−0.64; 95% CI −1.02 to −0.26) and total sleep time (Hedges’ g−0.64; 95% CI −1.01 to −0.27). The analysis of subjective measures showed that they had more problems in daytime sleepiness (Hedges’ g0.48; 95% CI 0.26 to 0.71), sleep latency (Hedges’ g1.15; 95% CI 0.72 to 1.58), initiating and maintaining sleep (Hedges’ g0.86; 95% CI 0.39 to 1.33) and sleep hyperhidrosis (Hedges’ g0.48; 95% CI 0.29 to 0.66). Potential publication bias was detected for sleep latency, sleep period time and total sleep time measured by polysomnography. Some sleep alterations were moderated by age, sex and concurrent intellectual disability. The median NOS score was 8 (interquartile range 7.25–8.75).ConclusionWe found that medication-naïve children and adolescents with ASD presented significantly more subjective and objective sleep alterations compared to TD and identified possible moderators of these differences. Future research requires an analysis of how these sleep alterations are linked to core symptom severity and comorbid behavioural problems, which would provide an integrated therapeutic intervention for ASD. However, our results should be interpreted in light of the potential publication bias.

Published
2024
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30. De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Author

Willsey, A. Jeremy, primary, Fernandez, Thomas V., additional, Yu, Dongmei, additional, King, Robert A., additional, Dietrich, Andrea, additional, Xing, Jinchuan, additional, Sanders, Stephan J., additional, Mandell, Jeffrey D., additional, Huang, Alden Y., additional, Richer, Petra, additional, Smith, Louw, additional, Dong, Shan, additional, Samocha, Kaitlin E., additional, Neale, Benjamin M., additional, Coppola, Giovanni, additional, Mathews, Carol A., additional, Tischfield, Jay A., additional, Scharf, Jeremiah M., additional, State, Matthew W., additional, Heiman, Gary A., additional, Abdulkadir, Mohamed, additional, Bohnenpoll, Julia, additional, Bromberg, Yana, additional, Brown, Lawrence W., additional, Cheon, Keun-Ah, additional, Coffey, Barbara J., additional, Deng, Li, additional, Elzerman, Lonneke, additional, Fründt, Odette, additional, Garcia-Delgar, Blanca, additional, Gedvilaite, Erika, additional, Gilbert, Donald L., additional, Grice, Dorothy E., additional, Hagstrøm, Julie, additional, Hedderly, Tammy, additional, Heyman, Isobel, additional, Hoekstra, Pieter J., additional, Hong, Hyun Ju, additional, Huyser, Chaim, additional, Ibanez-Gomez, Laura, additional, Kim, Young Key, additional, Kim, Young-Shin, additional, Koh, Yun-Joo, additional, Kook, Sodahm, additional, Kuperman, Samuel, additional, Lamerz, Andreas, additional, Leventhal, Bennett, additional, Ludolph, Andrea G., additional, Lühr da Silva, Claudia, additional, Madruga-Garrido, Marcos, additional, Maras, Athanasios, additional, Mir, Pablo, additional, Morer, Astrid, additional, Münchau, Alexander, additional, Murphy, Tara L., additional, Nasello, Cara, additional, Openneer, Thaïra J.C., additional, Plessen, Kerstin J., additional, Roessner, Veit, additional, Sanders, Stephan, additional, Shin, Eun-Young, additional, Sival, Deborah A., additional, Song, Dong-Ho, additional, Song, Jungeun, additional, Stolte, Anne Marie, additional, Sun, Nawei, additional, Tübing, Jennifer, additional, Visscher, Frank, additional, Walker, Michael F., additional, Wanderer, Sina, additional, Wang, Shuoguo, additional, Willsey, A. Jeremy, additional, Woods, Martin, additional, Zhang, Yeting, additional, Zhou, Anbo, additional, Zinner, Samuel H., additional, Barr, Cathy L., additional, Batterson, James R., additional, Berlin, Cheston, additional, Bruun, Ruth D., additional, Budman, Cathy L., additional, Cath, Danielle C., additional, Chouinard, Sylvain, additional, Cox, Nancy J., additional, Darrow, Sabrina, additional, Davis, Lea K., additional, Dion, Yves, additional, Freimer, Nelson B., additional, Grados, Marco A., additional, Hirschtritt, Matthew E., additional, Illmann, Cornelia, additional, Kurlan, Roger, additional, Leckman, James F., additional, Lyon, Gholson J., additional, Malaty, Irene A., additional, MaMahon, William M., additional, Okun, Michael S., additional, Osiecki, Lisa, additional, Pauls, David L., additional, Posthuma, Danielle, additional, Ramensky, Vasily, additional, Robertson, Mary M., additional, Rouleau, Guy A., additional, Sandor, Paul, additional, Singer, Harvey S., additional, Smit, Jan, additional, and Sul, Jae-Hoon, additional

Published
2017
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33. Child and adolescent psychiatry in the Far East: A 5‐year follow up on the Consortium on Academic Child and Adolescent Psychiatry in the Far East (CACAP‐FE) study.

Author

Hirota, Tomoya, Guerrero, Anthony, Sartorius, Norman, Fung, Daniel, Leventhal, Bennett, Ong, Say H., Kaneko, Hitoshi, Apinuntavech, Suporn, Bennett, Abang, Bhoomikumar, Jegannathan, Cheon, Keun‐Ah, Davaasuren, Oyunsuren, Gau, Susan, Hall, Brian, Koren, Evgeny, van Nguyen, Tuan, Oo, Tin, Tan, Susan, Tateno, Masaru, and Thikeo, Manivone

Abstract

Aim: Data pertaining to child and adolescent psychiatry (CAP) training systems are limited as extant research has mostly been derived from one‐time data collection. This 5‐year follow‐up survey collects updated information on CAP training systems in the Far East, allowing for the tracking of system changes over the past 5 years. Methods: Data were obtained from 18 countries, or functionally self‐governing areas, in the Far East, 17 of which were also included in the original study. An online questionnaire was completed by leading CAP professionals in each country. Questions were expanded in the present study to capture the contents of CAP training. Results: When compared to data from the original study, there has been progress in CAP training systems in the last 5 years. Specifically, there has been an increase in the number of countries with CAP training programs and national guidelines for the training. In addition, the number of CAP departments/divisions affiliated with academic institutions/universities has increased. Findings from 12 of 18 countries in the present study provide data on clinical contents. All informants of the present study reported the need for more child and adolescent psychiatrists and allied professionals. Conclusion: Despite progress in CAP training systems over the last 5 years, the need for more professionals in child and adolescent mental health care in all the relevant areas in this region have yet to be adequately addressed. Continued national efforts and international collaborations are imperative to developing and sustaining new CAP training systems while facilitating improvements in existing programs. [ABSTRACT FROM AUTHOR]

Published
2019
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