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https://www.readbyqxmd.com/read/28611559/pediatric-tourette-syndrome-a-tic-disorder-with-a-tricky-presentation
#1
Qurratul Warsi, Caroline Kirby, Mirza Beg
Dysphagia is a condition in which disruption of the swallowing process interferes with a patient's ability to eat. This may result in coughing or choking while swallowing, food sticking in the throat, or globus sensation. Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease with a varied clinical spectrum of symptoms including dysphagia. Tourette syndrome (TS) is an inherited neurological disorder that manifests itself as a series of motor and vocal tics and may include oropharyngeal dysphagia...
January 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28611376/allopregnanolone-mediates-the-exacerbation-of-tourette-like-responses-by-acute-stress-in-mouse-models
#2
Laura J Mosher, Sean C Godar, Marianela Nelson, Stephen C Fowler, Graziano Pinna, Marco Bortolato
Tourette syndrome (TS) is a neuropsychiatric disorder characterized by multiple tics and sensorimotor abnormalities, the severity of which is typically increased by stress. The neurobiological underpinnings of this exacerbation, however, remain elusive. We recently reported that spatial confinement (SC), a moderate environmental stressor, increases tic-like responses and elicits TS-like sensorimotor gating deficits in the D1CT-7 mouse, one of the best-validated models of TS. Here, we hypothesized that these adverse effects may be mediated by neurosteroids, given their well-documented role in stress-response orchestration...
June 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#3
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28593598/brief-report-macrocephaly-phenotype-and-psychiatric-comorbidity-in-a-clinical-sample-of-mexican-children-and-adolescents-with-autism-spectrum-disorders
#4
Lilia Albores-Gallo, Laura Fritsche-García, Arturo Pabel Miranda-Aguirre, Montserrat Avila-Acosta
Autism spectrum disorders (ASD) may present with macrocephaly. Few studies have analyzed the association with psychiatric comorbidity. Participants were 94 children with any ASD with an age range from 2 to 16 years (Mdn 6 years), 82% were boys. It was found that 20% of the sample had macrocephaly and 1% microcephaly. There was no association between the presence of macrocephaly and subtype of ASD. The most associated comorbidity was attention-deficit/hyperactivity disorder (ADHD) 54.2%, followed by specific phobia 34%, dysthimia 29...
June 7, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28584117/histamine-modulation-of-the-basal-ganglia-circuitry-in-the-development-of-pathological-grooming
#5
Maximiliano Rapanelli, Luciana Frick, Haruhiko Bito, Christopher Pittenger
Aberrant histaminergic function has been proposed as a cause of tic disorders. A rare mutation in the enzyme that produces histamine (HA), histidine decarboxylase (HDC), has been identified in patients with Tourette syndrome (TS). Hdc knockout mice exhibit repetitive behavioral pathology and neurochemical characteristics of TS, establishing them as a plausible model of tic pathophysiology. Where, when, and how HA deficiency produces these effects has remained unclear: whether the contribution of HA deficiency to pathogenesis is acute or developmental, and where in the brain the relevant consequences of HA deficiency occur...
June 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28574423/toward-a-multifactorial-conception-of-the-gilles-de-la-tourette-syndrome-and-persistent-chronic-tic-disorder
#6
EDITORIAL
Marc E Lavoie, Kieron O'Connor
Despite recent giant leaps in understanding Gilles de la Tourette's syndrome (now Tourette Disorder in the DSM 5), accurate multi-modal description, rigorous assessment procedures, and the improvement of evidence-based treatment currently pose a considerable challenge. In this context, the current special edition aims to elaborate three important dimensions in Tourette Disorder. Firstly, the effective characterization and etiological basis of the disorder are reviewed, since such characterization impacts accurate assessment...
June 2, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28556479/tonic-and-phasic-changes-in-anteromedial-globus-pallidus-activity-in-tourette-syndrome
#7
Michal Israelashvili, Anouk Y J M Smeets, Maya Bronfeld, Dagmar H Zeef, Albert F G Leentjens, Vivianne van Kranen-Mastenbroek, Marcus L F Janssen, Yasin Temel, Linda Ackermans, Izhar Bar-Gad
BACKGROUND: Tourette syndrome is a hyperkinetic neurodevelopmental disorder characterized by tics. OBJECTIVE: Assess the neuronal changes in the associative/limbic GP associated with Tourette syndrome. METHODS: Neurophysiological recordings were performed from the anterior (associative/limbic) GPe and GPi of 8 awake patients during DBS electrode implantation surgeries. RESULTS: The baseline firing rate of the neurons was low in a state-dependent manner in both segments of the GP...
May 29, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28555406/investigation-of-previously-implicated-genetic-variants-in-chronic-tic-disorders-a-transmission-disequilibrium-test-approach
#8
Mohamed Abdulkadir, Douglas Londono, Derek Gordon, Thomas V Fernandez, Lawrence W Brown, Keun-Ah Cheon, Barbara J Coffey, Lonneke Elzerman, Carolin Fremer, Odette Fründt, Blanca Garcia-Delgar, Donald L Gilbert, Dorothy E Grice, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Ewgeni Jakubovski, Young Key Kim, Young Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Andrea G Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Kirsten Müller-Vahl, Alexander Münchau, Tara L Murphy, Kerstin J Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H Zinner, Robert A King, Jay A Tischfield, Gary A Heiman, Pieter J Hoekstra, Andrea Dietrich
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...
May 29, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28502600/the-puzzling-question-of-inhibitory-control-in-tourette-syndrome-a-meta-analysis
#9
REVIEW
Simon Morand-Beaulieu, Stéphanie Grot, Jacob Lavoie, Julie B Leclerc, David Luck, Marc E Lavoie
Tourette syndrome (TS) is a neuropsychiatric disorder involving motor and phonic tics. Inhibitory control is a key issue in TS, and many disruptive or impulsive behaviors might arise from inhibitory deficits. However, conflicting findings regarding TS patients' inhibitory performance in neuropsychological tasks have been reported throughout the literature. Therefore, this meta-analysis aimed to evaluate inhibitory control through neuropsychological tasks, and to analyze the factors modulating inhibitory deficits...
May 11, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28483714/purposeless-oral-activity-induced-by-meta-chlorophenylpiperazine-m-cpp-undefined-tic-like-behaviors
#10
Deborah S Kreiss, Philippe De Deurwaerdère
BACKGROUND: The pathophysiological hypothesis underlying tic disorders in Tourette syndrome (TS) is that basal ganglia are not capable of properly filtering cortical information, leading patients with difficulties in inhibiting unwanted behaviors or impulses. One of the main challenges for furthering such a hypothesis is to find appropriate animal models summarizing some aspects of the disease. METHODS: It has been established for more than 25 years in rodents that the prototypical serotonin (5-HT) agonist meta-chlorophenylpiperazine (m-CPP) elicits purposeless oral movements including chewing behavior...
May 5, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28472652/de-novo-coding-variants-are-strongly-associated-with-tourette-disorder
#11
A Jeremy Willsey, Thomas V Fernandez, Dongmei Yu, Robert A King, Andrea Dietrich, Jinchuan Xing, Stephan J Sanders, Jeffrey D Mandell, Alden Y Huang, Petra Richer, Louw Smith, Shan Dong, Kaitlin E Samocha, Benjamin M Neale, Giovanni Coppola, Carol A Mathews, Jay A Tischfield, Jeremiah M Scharf, Matthew W State, Gary A Heiman
Whole-exome sequencing (WES) and de novo variant detection have proven a powerful approach to gene discovery in complex neurodevelopmental disorders. We have completed WES of 325 Tourette disorder trios from the Tourette International Collaborative Genetics cohort and a replication sample of 186 trios from the Tourette Syndrome Association International Consortium on Genetics (511 total). We observe strong and consistent evidence for the contribution of de novo likely gene-disrupting (LGD) variants (rate ratio [RR] 2...
May 3, 2017: Neuron
https://www.readbyqxmd.com/read/28470381/relationship-of-serum-ferritin-level-and-tic-severity-in-children-with-tourette-syndrome
#12
Debabrata Ghosh, Elizabeth Burkman
PURPOSE: Tics can be considered hyperkinetic movements akin to restless leg syndrome (RLS). Drawing the analogy of iron deficiency as an etiology of RLS, it is conceivable that iron deficiency may underlie or worsen tics in Tourette syndrome (TS). The purpose of this study was to evaluate the relationship between serum ferritin levels and tic severity, as well as consequent impact on life, in children with TS. METHODS: Children <18 years, diagnosed with TS during 2009-2015, were reviewed...
May 3, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28464701/preliminary-evidence-on-cannabis-effectiveness-and-tolerability-for-adults-with-tourette-syndrome
#13
Elia Abi-Jaoude, Lei Chen, Patrina Cheung, Tracy Bhikram, Paul Sandor
The authors retrospectively evaluated effectiveness and tolerability of cannabis in 19 adults with Tourette syndrome. Tics scores decreased by 60%, and 18 of the 19 participants were at least "much improved." Cannabis was generally well tolerated, although most participants reported side effects.
May 3, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28451624/tics-in-the-pediatric-population-pragmatic-management
#14
REVIEW
Christos Ganos, Davide Martino, Tamara Pringsheim
BACKGROUND: Primary tic disorders, notably Tourette syndrome, are very common movement disorders in childhood. However, the management of such patients still poses great therapeutic challenges to medical professionals. METHODS: Based on a synthesis of the available guidelines published in Europe, Canada, and the United States, coupled with more recent therapeutic developments, the authors provide a pragmatic guide to aid clinicians in deciding when and how to treat patients who have primary tic disorders...
March 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28445405/significant-tic-reduction-in-an-otherwise-treatment-resistant-patient-with-gilles-de-la-tourette-syndrome-following-treatment-with-nabiximols
#15
Ahmad Seif Kanaan, Ewgeni Jakubovski, Kirsten Müller-Vahl
Early anecdotal reports and preliminary studies suggested that cannabinoid-based medicines such as delta-9-tetrahydrocannabinol (THC) are effective in the treatment of Gilles de la Tourette syndrome (TS). We report a single case study of a patient with otherwise treatment-resistant TS successfully treated with nabiximols. Our patient was a 22-year-old male suffering from severe and complex TS. Treatment with nabiximols was commenced at a dose of 1 puff/day (= 100 μL containing 2.7 mg THC and 2.5 mg cannabidiol (CBD)) and slowly increased up to a dosage of 3 × 3 puffs/day (= 24...
April 26, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28429606/parent-and-patient-perceptions-of-functional-impairment-due-to-tourette-syndrome-development-of-a-shortened-version-of-the-child-tourette-syndrome-impairment-scale
#16
Kara S Francis Barfell, Ryan R Snyder, Kelly M Isaacs-Cloes, Jordan F Garris, Alyssa R Roeckner, Paul S Horn, Michael D Guthrie, Steve W Wu, Donald L Gilbert
The Child Tourette Syndrome Impairment Scale (CTIM) rates 37 problems in school, social, and home domains separately for tics and for comorbid diagnoses. However, a shorter version would be easier to implement in busy clinics. Using published data from 85 children with Tourette syndrome, 92 controls, and parents, factor analysis was used to generate a "mini-CTIM" composed of 12 items applied to tic and comorbid diagnoses. Child- and parent-rated mini-CTIM scores were compared and correlated across raters and accounting for clinician-rated tic severity and presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD)...
July 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28418483/tics-and-tourette-syndrome
#17
Christopher C Muth
No abstract text is available yet for this article.
April 18, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28387621/deep-brain-stimulation-for-tourette-syndrome-a-single-center-series
#18
Richard S Dowd, Michael Pourfar, Alon Y Mogilner
OBJECTIVE Tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by multiple motor and phonic tics. While pharmacological and behavioral therapy can be effective in most patients, a subset of patients remains refractory to treatment. Increasing clinical evidence from multiple centers suggests that deep brain stimulation (DBS) of the medial thalamus can be effective in many cases of refractory TS. METHODS The authors retrospectively reviewed outcomes in 13 patients with refractory TS who underwent medial thalamic DBS performed by their team over a 7-year period...
April 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28387387/deutetrabenazine-treatment-of-hyperkinetic-aspects-of-huntington-s-disease-tardive-dyskinesia-and-tourette-syndrome
#19
REVIEW
D M Paton
Deutetrabenazine is a derivative of tetrabenazine in which two trideuteromethoxy groups substitute two methoxy groups. The active metabolites of deutetrabenazine have a longer half-life than those of tetrabenazine, together with a greater overall absorption. However, the peak plasma concentrations are lower. Because of these pharmacokinetic differences, deutetrabenazine can be given twice daily, thus improving compliance. The lower peak concentrations may account for a lower incidence of some unwanted adverse effects...
February 2017: Drugs of Today
https://www.readbyqxmd.com/read/28358814/dysfunctions-of-the-basal-ganglia-cerebellar-thalamo-cortical-system-produce-motor-tics-in-tourette-syndrome
#20
Daniele Caligiore, Francesco Mannella, Michael A Arbib, Gianluca Baldassarre
Motor tics are a cardinal feature of Tourette syndrome and are traditionally associated with an excess of striatal dopamine in the basal ganglia. Recent evidence increasingly supports a more articulated view where cerebellum and cortex, working closely in concert with basal ganglia, are also involved in tic production. Building on such evidence, this article proposes a computational model of the basal ganglia-cerebellar-thalamo-cortical system to study how motor tics are generated in Tourette syndrome. In particular, the model: (i) reproduces the main results of recent experiments about the involvement of the basal ganglia-cerebellar-thalamo-cortical system in tic generation; (ii) suggests an explanation of the system-level mechanisms underlying motor tic production: in this respect, the model predicts that the interplay between dopaminergic signal and cortical activity contributes to triggering the tic event and that the recently discovered basal ganglia-cerebellar anatomical pathway may support the involvement of the cerebellum in tic production; (iii) furnishes predictions on the amount of tics generated when striatal dopamine increases and when the cortex is externally stimulated...
March 2017: PLoS Computational Biology
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