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JOURNAL ARTICLE
Giulia Conte, Carola Costanza, Maria Novelli, Veronica Scarselli, Elena Arigliani, Francesca Valente, Valentina Baglioni, Arianna Terrinoni, Flavia Chiarotti, Francesco Cardona
BACKGROUND: Cognitive functions represent foundational factors for mental health and quality of life (QoL). In Tourette syndrome (TS), psychiatric comorbidities are common and have been inconsistently reported to affect the cognition and QoL of patients, while the role of tic disorder duration has not been yet explored. METHODS: To examine how comorbidities and TS duration may influence cognition and QoL, N = 80 children with TS (6-16 years) were evaluated using the Wechsler Intelligence Scale for Children (WISC-IV)...
February 9, 2024: Children
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JOURNAL ARTICLE
Jessica Szu-Chi Cheng, Elissa Khalil, Masoud Salehi, Lauren Mulcahy, Isabella Yiru Xie, Hasti Hadizadeh, Marco A Grados
INTRODUCTION: Pediatric obsessive-compulsive disorder (OCD), attention-deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS) are often concurrent. This study explores the temperament profile of complex OCD phenotypes. METHODS: A clinical registry recorded demographic data, psychiatric diagnoses, and temperament traits, including novelty seeking (exploratory behaviors), harm avoidance (fear of uncertainty), reward dependence (sentimentality), and persistence (perseverance)...
January 29, 2024: Psychopathology
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Marisela E Dy-Hollins, Lori B Chibnik, Natasha A Tracy, Lisa Osiecki, Cathy L Budman, Danielle C Cath, Marco A Grados, Robert A King, Lyon Gholson, Guy A Rouleau, Paul Sandor, Harvey S Singer, Nutan Sharma, Carol A Mathews, Jeremiah Scharf
BACKGROUND AND OBJECTIVE: Tourette Syndrome (TS) and Persistent Motor or Vocal Tic Disorders (PMVT) are more prevalent in males (vs. females). Females with TS may have a delay in diagnosis, and more complex tic features (vs. males). With respect to comorbidities, obsessive-compulsive disorder (OCD) is more prevalent in females; attention-deficit hyperactivity disorder (ADHD) is more prevalent in males. Less is known about sex differences in PMVT. This study analyzes sex differences in outcomes among individuals with TS and PMVT in the Tourette Association of America International Consortium for Genetics dataset (TAAICG)...
January 9, 2024: medRxiv
#4
JOURNAL ARTICLE
Daniel A Geller, Mia Grossman
OBJECTIVE: To use a family genetic study to evaluate familial risk of obsessive compulsive disorder (OCD) and common comorbid illnesses in first-degree relatives of pediatric-onset probands with primary OCD. METHOD: One hundred and thirty youth with OCD and their 133 siblings and 241 parents and 49 pediatric controls were directly evaluated along multiple domains including psychopathology using structured diagnostic interviews and clinical corroboration. RESULTS: Rates of anxiety, mood, disruptive behavior, and tic disorders were markedly elevated in the probands while rates in siblings were elevated at rates between the probands and controls...
December 28, 2023: Journal of Attention Disorders
#5
JOURNAL ARTICLE
Mengyue Niu, Yanjing Li, Shikun Zhan, Bomin Sun, Jun Liu, Yiwen Wu
BACKGROUND: Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported. CASE PRESENTATION: Here we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB)...
October 10, 2023: BMC Neurology
#6
JOURNAL ARTICLE
Sara Naudhani, Adeel Ahmad, Fariya Khan Bazai, Muhammad Tariq Pervez, Azqa Zafar, Sajjad Ali Shah, Nafeesa Raheem, Abdul Hameed Baloch, Muhammad Mushtaq, Shakeela Daud
INTRODUCTION: In a consanguineous family, seven siblings born in three sibships showed a syndromic disorder characterized by obesity, seizures, and language impairment phenotypes, which appeared at early age or developed during early childhood. METHODS: By whole-exome sequencing and subsequent Sanger sequencing, a novel homozygous missense variant (c.3371 T>A [p.Ile1124Asn]) in exon 20 of the CNTNAP2 gene was identified. RESULTS: The pathogenic variant in this family is located within one of the laminin G-like 4 domains of CASPR2 and may cause loss of hydrophobic interactions of CASPR2 with its partner proteins...
August 2023: Molecular Syndromology
#7
REVIEW
Jacopo Lamanna, Mattia Ferro, Sara Spadini, Gabriella Racchetti, Antonio Malgaroli
Tourette Syndrome (TS) is a high-incidence multifactorial neuropsychiatric disorder characterized by motor and vocal tics co-occurring with several diverse comorbidities, including obsessive-compulsive disorder and attention-deficit hyperactivity disorder. The origin of TS is multifactorial, with strong genetic, perinatal, and immunological influences. Although almost all neurotransmettitorial systems have been implicated in TS pathophysiology, a comprehensive neurophysiological model explaining the dynamics of expression and inhibition of tics is still lacking...
August 10, 2023: Behavioral Sciences
#8
REVIEW
Christelle Nilles, Andreas Hartmann, Emmanuel Roze, Davide Martino, Tamara Pringsheim
Tics are repetitive, patterned, and nonrhythmic movements or vocalizations/audible sounds that are misplaced in context. Phenomenology and characteristics of tics (e.g., premonitory urge, suppressibility) differentiate them from compulsions, stereotypies, functional tic-like behaviors, and other types of hyperkinetic movement disorders. With a prevalence of approximately 1% in school-aged boys, Tourette syndrome (TS) is considered a common childhood-onset neurodevelopmental disorder, defined by the combination of at least two motor tics and at least one phonic tic lasting more than 1 year...
2023: Handbook of Clinical Neurology
#9
JOURNAL ARTICLE
Miaomiao Jiang, Weiheng Yan, Yuyanan Zhang, Zhe Lu, Tianlan Lu, Dai Zhang, Jun Li, Lifang Wang
BACKGROUND: Phosphodiesterases (PDEs) have been associated with psychiatric disorders in observational studies; however, the causality of associations remains unestablished. METHODS: Specifically, cyclic nucleotide PDEs were collected from genome-wide association studies (GWASs), including PDEs obtained by hydrolyzing both cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) (PDE1A, PDE2A, and PDE3A), specific to cGMP (PDE5A, PDE6D, and PDE9A) and cAMP (PDE4D and PDE7A)...
August 21, 2023: Journal of Translational Medicine
#10
JOURNAL ARTICLE
Kazutaka Ohi, Daisuke Fujikane, Ayumi Kuramitsu, Kentaro Takai, Yukimasa Muto, Shunsuke Sugiyama, Toshiki Shioiri
Adjustment disorder has three main subtypes: adjustment disorder with depressed mood, adjustment disorder with anxiety, and adjustment disorder with disturbance of conduct. The disorder is moderately heritable and has lifetime comorbidities with major depressive disorder (MDD), anxiety disorders, or risk-tolerant personality. However, it remains unclear whether the degrees of genetic correlations between adjustment disorder and other psychiatric disorders and intermediate phenotypes are similar or different to those between MDD, anxiety disorders or risk-tolerant personality and these other psychiatric disorders and intermediate phenotypes...
August 7, 2023: Journal of Affective Disorders
#11
JOURNAL ARTICLE
Andrea E Cavanna, Giulia Purpura, Anna Riva, Renata Nacinovich, Stefano Seri
BACKGROUND: An unprecedented increase in newly developed functional tics, mainly in young females, has been reported during the COVID-19 pandemic. We set out to complement existing case series with the largest controlled study to date on the clinical phenomenology of functional tics versus neurodevelopmental tics. METHODS: Data from 166 patients were collected at a specialist clinic for tic disorders during a three-year period overlapping with the COVID-19 pandemic (2020-2023)...
August 15, 2023: Journal of the Neurological Sciences
#12
JOURNAL ARTICLE
Valerie Brandt, Jana Essing, Ewgeni Jakubovski, Kirsten Müller-Vahl
BACKGROUND: Tics are intimately associated with premonitory urges (PU) but knowledge about urges is still limited, with small sample sizes often limiting the generalizability of findings. OBJECTIVES: This study addressed the following open questions: (1) is tic severity associated with urge severity, (2) how common is relief, (3) which comorbidities are associated with urges, (4) are urges, tics, and comorbidities associated with lower quality of life, and (5) can complex and simple, motor and vocal tics be differentiated based on PU? METHODS: N = 291 patients who reported a confirmed diagnosis of chronic primary tic disorder (age = 18-65, 24% female) filled out an online survey assessing demographic data, comorbid conditions, location, quality and intensity of PU, as well as quality of life...
June 2023: Movement Disorders Clinical Practice
#13
JOURNAL ARTICLE
Kaja Andersen, Camilla Groth, Liselotte Skov, Nanette Mol Debes
BACKGROUND: This study explores the longitudinal impact of severity of Tourette Syndrome (TS), diagnosis and severity of Attention-Deficit/Hyperactivity Disorder (ADHD) and Obsessive-Compulsive Disorder (OCD), and guardian socioeconomic status on the level of substance use of pediatric patients with TS. METHODS: A total of 314 pediatric patients with TS participated at time 1 (T1). During these visits, the severity of the patients' TS, ADHD, and OCD symptoms were assessed, along with their guardians' socioeconomic status...
May 16, 2023: Pediatric Neurology
#14
JOURNAL ARTICLE
Osvaldo Vilela-Filho, Joaquim T Souza, Paulo C Ragazzo, Délson J Silva, Paulo M Oliveira, Lissa C Goulart, Manoel D Reis, Fabian Piedimonte, Telma M Ribeiro
OBJECTIVES: We have previously proposed that Tourette syndrome (TS) is the clinical expression of the hyperactivity of globus pallidus externus (GPe) and various cortical areas. This study was designed to test this hypothesis by verifying the efficacy and safety of bilateral GPe deep brain stimulation (DBS) for treating refractory TS. MATERIALS AND METHODS: In this open clinical trial, 13 patients were operated on. Target coordinates (center of GPe) were obtained by direct visualization...
June 7, 2023: Neuromodulation: Journal of the International Neuromodulation Society
#15
JOURNAL ARTICLE
David Mataix-Cols, Kayoko Isomura, Gustaf Brander, Isabell Brikell, Paul Lichtenstein, Zheng Chang, Henrik Larsson, Ralf Kuja-Halkola, Kevin J Black, Anna Sidorchuk, Lorena Fernández de la Cruz
BACKGROUND: Many children with tic disorders outgrow their tics, but little is known about the proportion of individuals who will continue to require specialist services in adulthood and which variables are associated with tic persistence. OBJECTIVES: The aims were to estimate the proportion of individuals first diagnosed with tic disorders in childhood who continued to receive tic disorder diagnoses after age 18 years and to identify risk factors for persistence...
May 29, 2023: Movement Disorders: Official Journal of the Movement Disorder Society
#16
JOURNAL ARTICLE
Dana Feldman Sadeh, Mira Levis Frenk, Tomer Simha, Danny Horesh, Tamar Steinberg, Nofar Geva, Matan Nahon, Andrea Dietrich, Pieter J Hoekstra, Daphna Ruhrman, Alan Apter, Silvana Fennig, Noa Benaroya-Milshtein
BACKGROUND: Chronic tic disorders (CTDs) commonly co-occur with other psychiatric disorders. CTDs have been linked to functional impairment and reduction in quality of life. Insufficient research is available on depressive symptoms in patients with CTD, especially children and adolescents, yielding conflicting findings. To investigate the presence of depressive symptoms in a cohort of children and young adolescents with CTD and to test whether they moderate the link between tic severity and functional impairment...
April 21, 2023: Pediatric Neurology
#17
JOURNAL ARTICLE
David A Isaacs, Ashruta Narapareddy, Michelle R Eckland, Heather R Riordan
OBJECTIVE: Among adults with Tourette syndrome, depression and anxiety symptoms are widely prevalent and consistently associated with poor quality of life. Important knowledge gaps remain regarding mood and anxiety dimensions of the adult Tourette syndrome phenotype. Taking a dimensional approach, this study sought to determine the prevalence, severity, and clinical correlates of depression and anxiety symptoms in a clinical sample of adults with Tourette syndrome and other chronic tic disorders...
April 24, 2023: Journal of Neuropsychiatry and Clinical Neurosciences
#18
JOURNAL ARTICLE
Hong Kyu Ihm, Hyejin Kim, Jinho Kim, Woong-Yang Park, Hyo Shin Kang, Jungkyu Park, Hong-Hee Won, Woojae Myung
Psychiatric disorders frequently co-occur and share common symptoms and genetic backgrounds. Previous research has used genome-wide association studies to identify the interrelationships among psychiatric disorders and identify clusters of disorders; however, these methods have limitations in terms of their ability to examine the relationships among disorders as a network structure and their generalizability to the general population. In this study, we explored the network structure of the polygenic risk score (PRS) for 13 psychiatric disorders in a general population (276,249 participants of European ancestry from the UK Biobank) and identified communities and the centrality of the network...
April 19, 2023: European Archives of Psychiatry and Clinical Neuroscience
#19
JOURNAL ARTICLE
Dora Koller, Antonio Benítez-Burraco, Renato Polimanti
Self-domestication could contribute to shaping the biology of human brain and consequently the predisposition to neurodevelopmental disorders. Leveraging genome-wide data from the Psychiatric Genomics Consortium, we tested the enrichment of self-domestication and neural crest function loci with respect to the heritability of autism spectrum disorder, schizophrenia (SCZ in East Asian and European ancestries, EAS and EUR, respectively), attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and Tourette's syndrome (TS)...
March 17, 2023: Human Genetics
#20
JOURNAL ARTICLE
Pritesh Jain, Tyne Miller-Fleming, Apostolia Topaloudi, Dongmei Yu, Petros Drineas, Marianthi Georgitsi, Zhiyu Yang, Renata Rizzo, Kirsten R Müller-Vahl, Zeynep Tumer, Nanette Mol Debes, Andreas Hartmann, Christel Depienne, Yulia Worbe, Pablo Mir, Danielle C Cath, Dorret I Boomsma, Veit Roessner, Tomasz Wolanczyk, Piotr Janik, Natalia Szejko, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Joseph D Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J Plessen, Cesare Porcelli, Susanne Walitza, Anette Schrag, Davide Martino, Andrea Dietrich, Carol A Mathews, Jeremiah M Scharf, Pieter J Hoekstra, Lea K Davis, Peristera Paschou
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...
February 23, 2023: Translational Psychiatry
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