Tics and Tourette Syndrome

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... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

Tourette Syndrome

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If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

Facts about Tourette Syndrome

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... type="submit" value="Submit" /> Information For… Media Policy Makers ... about their experiences living with Attention-Deficit/Hyperactivity Disorder and Tourette Syndrome Watch the video » Tourette ...

An Educator's Guide to Tourette Syndrome.

ERIC Educational Resources Information Center

Bronheim, Suzanne

1991-01-01

Tourette Syndrome is described in terms of causes, treatment, associated disorders (attention deficit hyperactivity disorder, obsessive-compulsive behaviors, learning disabilities), and classroom management (dealing with tics, writing problems, language problems, and attention problems). Common teacher questions concerning Tourette Syndrome are…

The Symptomatology and Diagnosis of Gilles de la Tourette's Syndrome

ERIC Educational Resources Information Center

Shapiro, Arthur; And Others

1973-01-01

The symptomatology of 34 patients with Gilles de la Tourette's syndrome was described in detail. The purpose was to clarify the diagnostic criteria for Tourette's syndrome by describing the type, variety, and frequency of symptoms in this illness. (Author)

The prevalence of diagnosed tourette syndrome in Canada: A national population-based study.

PubMed

Yang, Jaeun; Hirsch, Lauren; Martino, Davide; Jette, Nathalie; Roberts, Jodie; Pringsheim, Tamara

2016-11-01

The objective of this study was to examine: (1) the prevalence of diagnosed Tourette syndrome in Canada by sex in youth (aged 12-17) and adults and (2) socioeconomic factors in this population. The majority of epidemiological studies of tics have focused on children and youth, with few studies describing the prevalence of tics in adult populations. Canadian data on Tourette syndrome prevalence were derived from the Canadian Community Health Survey 2010 and 2011 cycles, a Statistics Canada population-based cross-sectional survey that collects information related to health status. We determined the prevalence of diagnosed Tourette syndrome and examined sociodemographic factors, including age, sex, education, income, employment, and birthplace. Overall, 122,884 Canadians participated in the surveys, with 122 participants diagnosed with Tourette syndrome. The prevalence of Tourette syndrome was higher in males in youth: 6.03 per 1000 (95% confidence interval: 3.24-8.81) in males versus 0.48 per 1,000 (95% confidence interval: 0.05-0.91) in females, with a prevalence risk ratio of 5.31 (95% confidence interval: 2.38-11.81). In adults, the prevalence of Tourette syndrome was 0.89 per 1,000 (95% confidence interval: 0.48-1.29) in males versus 0.44 (95% confidence interval: 0.16.0-0.71) in females, with a prevalence risk ratio of 1.93 (95% confidence interval: 1.21-3.08). After adjusting for age and sex, adults with Tourette syndrome had lower odds of receiving postsecondary education or being employed and higher odds of having income lower than the median and receiving governmental support. Data on the prevalence of Tourette syndrome in adults are scarce because most studies focus on children. Our data demonstrate a decreasing prevalence risk ratio for sex in adults compared to children. A diagnosis of Tourette syndrome is associated with lower education, income, and employment in adulthood. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

An Educator's Guide to Tourette Syndrome.

ERIC Educational Resources Information Center

Bronheim, Suzanne

Intended for educators, the booklet presents information on Tourette's Syndrome (TS), an inherited neurological disorder characterized by involuntary multiple motor and vocal tics. The first section describes Tourette Syndrome--its causes, symptons, and treatments. In the second section, suggestions are provided to help teachers and school…

Educational Considerations for Children with Tourette's Syndrome.

ERIC Educational Resources Information Center

Jones, Kevin; Johnson, Genevieve Marie

1993-01-01

This paper describes the prevalence of Tourette's Syndrome and its characteristics. Instructional strategies for students with Tourette's Syndrome are discussed, including a flexible teaching style, a warm and supportive classroom environment, paired and cooperative learning strategies, frequent breaks during instruction, and a safe place to…

'Living with tics': self-experience of adolescents with Tourette syndrome during peer interaction.

PubMed

Lee, Mei-Yin; Mu, Pei-Fan; Wang, Wen-Sheng; Wang, Huei-Shyong

2016-02-01

To describe the essence of the self-experience of adolescents with Tourette syndrome in the context of peer interaction. Tourette syndrome has an adverse impact on adolescents' physical, psychological and interpersonal interactions. Peers provide adolescents with social interactions that are crucial to the formation of self-identity. Studies exploring the self-experience of adolescents with Tourette syndrome in the context of peer relationships are lacking. A qualitative, phenomenological research design was used. A total of 12 adolescents with Tourette syndrome from the Taiwan Tourette Family Association were selected by purposive sampling. Data were collected using open-ended questions in one-on-one in-depth interviews that lasted 60-90 minutes. Giorgi's phenomenological methods were applied to analyse the data obtained. Four criteria were employed to evaluate methodological rigour. The findings showed that the self-experience of adolescents with Tourette syndrome during peer interaction reflected their lived experiences of peer identity, social identity and self-identity. Themes included: (1) the inexplicable onset of tics during encounters with other people, (2) sources inspiring the courage for self-acceptance and (3) strategies of self-protection in response to changes in situation. The self-experience of peer interaction among adolescents with Tourette syndrome is a dynamic and interactive process characterised by the symbolic meanings conferred on the tics by the interacting adolescents. The adolescents with Tourette syndrome obtain self-identity through peer responses and recognition, while the tolerance, respect and support of parents and teachers spark the adolescents' courage for self-acceptance. Healthcare providers who assist adolescents with Tourette syndrome must understand that tics occur in the context of peer interaction and how this affects the adolescents' relationships with their peers in various life situations. Furthermore, healthcare providers should provide support, respect and offer coping strategies regarding peer interaction based on an understanding of the social dynamics of such peer interactions. © 2016 John Wiley & Sons Ltd.

Ferritin Levels and Their Association With Regional Brain Volumes in Tourette's Syndrome

PubMed Central

Gorman, Daniel A.; Zhu, Hongtu; Anderson, George M.; Davies, Mark; Peterson, Bradley S.

2008-01-01

Objective A previous small study showed lower serum ferritin levels in subjects with Tourette's syndrome than in healthy subjects. The authors measured peripheral iron indices in a large group of Tourette's syndrome and comparison subjects and explored associations of ferritin levels with regional brain volumes. Method Ferritin was measured in 107 children and adults (63 Tourette's syndrome, 44 comparison); serum iron was measured in 73 (41 Tourette's syndrome, 32 comparison). Magnetic resonance imaging scans were used to measure volumes of the basal ganglia and cortical gray matter. Results Ferritin and serum iron were significantly lower in the Tourette's syndrome subjects, although still within the normal range. No association was found between tic severity and either iron index. In the Tourette's syndrome subjects, ferritin did not correlate significantly with caudate volume but did correlate positively with putamen volume. In the comparison subjects, ferritin correlated inversely with caudate volume but did not correlate significantly with putamen volume. Irrespective of diagnosis, ferritin correlated positively with volumes of the sensorimotor, midtemporal, and subgenual cortices. Conclusions The lower peripheral ferritin and iron levels in persons with Tourette's syndrome are consistent with findings in other movement disorders and suggest that lower iron availability may have a causal role in the pathophysiology of tic disorders. Lower iron stores may contribute to hypoplasia of the caudate and putamen, increasing vulnerability to developing tics or to having more severe tics. Lower iron stores may also contribute to smaller cortical volumes and consequently to reduced inhibitory control of tics. PMID:16816233

Multispectral Brain Morphometry in Tourette Syndrome Persisting into Adulthood

ERIC Educational Resources Information Center

Draganski, Bogdan; Martino, Davide; Cavanna, Andrea E.; Hutton, Chloe; Orth, Michael; Robertson, Mary M.; Critchley, Hugo D.; Frackowiak, Richard S.

2010-01-01

Tourette syndrome is a childhood-onset neuropsychiatric disorder with a high prevalence of attention deficit hyperactivity and obsessive-compulsive disorder co-morbidities. Structural changes have been found in frontal cortex and striatum in children and adolescents. A limited number of morphometric studies in Tourette syndrome persisting into…

A personal 35 year perspective on Gilles de la Tourette syndrome: prevalence, phenomenology, comorbidities, and coexistent psychopathologies.

PubMed

Robertson, Mary M

2015-01-01

This Series is a personal narrative of my experience with patients with Gilles de la Tourette syndrome and covers its definition and history since the first description in 1825. Controversy entered the prevalence debate early. Although originally considered very rare, in the 1980s, Tourette's syndrome was reported to be common. However, Tourette's syndrome has been shown to occur at a prevalence of about 0·85% to 1%. Tourette's syndrome is more common in the male population, more prominent during childhood, and usually improves, but does not disappear with age. Tourette's syndrome is considered less common in people of sub-Saharan black African, African-American, and American Hispanic ethnic origin. The phenomenology is similar worldwide, indicating a biological basis. The hallmark characteristics are multiple motor and one or more vocal/phonic tics. Other associated features include premonitory urges, a waxing and waning course, and to a much lesser degree, coprolalia. Comorbid disorders are common and are suggested to include obsessive-compulsive disorder and behaviours, attention deficit hyperactivity disorder, and autistic spectrum disorder. Coexistent psychopathologies are suggested to include depression and conduct and personality disorders. Importantly, I argue that Tourette's syndrome is not a unitary condition. Finally, I offer suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

An Individual with Gilles de la Tourette Syndrome and Smith-Magenis Microdeletion Syndrome: Is Chromosome 17p11.2 a Candidate Region for Tourette Syndrome Putative Susceptibility Genes?

ERIC Educational Resources Information Center

Shelley, B. P.; Robertson, M. M.; Turk, J.

2007-01-01

This is the first published case description in the current literature of the association of definite Gilles de la Tourette syndrome (GTS) and the Smith-Magenis syndrome (SMS), both confirmed by DSM-IV-TR criteria and molecular cytogenetic analysis, respectively. The co-occurrence of GTS, SMS and their common behavioural/neuropsychiatric…

Supporting Students with Tourette Syndrome in Secondary School: A Survey of Staff Views

ERIC Educational Resources Information Center

Wadman, Ruth; Glazebrook, Cris; Parkes, Emma; Jackson, Georgina M.

2016-01-01

Tourette syndrome is a neurological condition involving involuntary movements and sounds (tics) and is thought to affect as many as 1% of school-aged children. Some young people with Tourette syndrome experience educational difficulties and social difficulties. Current clinical guidelines suggest educators can play an important role in maximising…

Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

PubMed

Leivonen, Susanna; Chudal, Roshan; Joelsson, Petteri; Ekblad, Mikael; Suominen, Auli; Brown, Alan S; Gissler, Mika; Voutilainen, Arja; Sourander, Andre

2016-02-01

This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

PubMed

Yu, Dongmei; Mathews, Carol A; Scharf, Jeremiah M; Neale, Benjamin M; Davis, Lea K; Gamazon, Eric R; Derks, Eske M; Evans, Patrick; Edlund, Christopher K; Crane, Jacquelyn; Fagerness, Jesen A; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Berrió, Gabriel Bedoya; Bienvenu, O Joseph; Black, Donald W; Bloch, Michael H; Brentani, Helena; Bruun, Ruth D; Budman, Cathy L; Camarena, Beatriz; Campbell, Desmond D; Cappi, Carolina; Silgado, Julio C Cardona; Cavallini, Maria C; Chavira, Denise A; Chouinard, Sylvain; Cook, Edwin H; Cookson, M R; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniele; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald L; Girard, Simon L; Grabe, Hans J; Grados, Marco A; Greenberg, Benjamin D; Gross-Tsur, Varda; Grünblatt, Edna; Hardy, John; Heiman, Gary A; Hemmings, Sian M J; Herrera, Luis D; Hezel, Dianne M; Hoekstra, Pieter J; Jankovic, Joseph; Kennedy, James L; King, Robert A; Konkashbaev, Anuar I; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T; Mesa Restrepo, Sandra C; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L; Naarden, Allan L; Nurmi, Erika; Ochoa, William Cornejo; Ophoff, Roel A; Pakstis, Andrew J; Pato, Michele T; Pato, Carlos N; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L; Renner, Tobias; Reus, Victor I; Richter, Margaret A; Riddle, Mark A; Robertson, Mary M; Romero, Roxana; Rosário, Maria C; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S; Samuels, Jack; Sandor, Paul; Service, Susan K; Sheppard, Brooke; Singer, Harvey S; Smit, Jan H; Stein, Dan J; Strengman, Eric; Tischfield, Jay A; Turiel, Maurizio; Valencia Duarte, Ana V; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R; Westenberg, Herman G M; Shugart, Yin Yao; Hounie, Ana G; Miguel, Euripedes C; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C; McMahon, William; Posthuma, Danielle; Oostra, Ben A; Nestadt, Gerald; Rouleau, Guy A; Purcell, Shaun; Jenike, Michael A; Heutink, Peter; Hanna, Gregory L; Conti, David V; Arnold, Paul D; Freimer, Nelson B; Stewart, S Evelyn; Knowles, James A; Cox, Nancy J; Pauls, David L

2015-01-01

Obsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD. The authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders. Although no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01). Previous work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring Tourette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.

Tourette Syndrome Associated with Mental Retardation: A Single-Subject Treatment Study with Haloperidol.

ERIC Educational Resources Information Center

Rosenquist, Peter B.; And Others

1997-01-01

A study of a 35-year-old woman with severe mental retardation and Tourette syndrome examined the efficacy of haloperidol in the treatment of Tourette syndrome. Results indicate that the haloperidol treatment produced significant reduction of all tic topographies. Improvement was also seen in tic severity, hyperactivity, and compulsive behaviors.…

The relationship between group A streptococcal infections and Tourette syndrome: a study on a large service-based cohort.

PubMed

Martino, Davide; Chiarotti, Flavia; Buttiglione, Maura; Cardona, Francesco; Creti, Roberta; Nardocci, Nardo; Orefici, Graziella; Veneselli, Edvige; Rizzo, Renata

2011-10-01

To evaluate the relationship between diagnosis and clinical course of Tourette syndrome and group A Streptococcus (GAS). GAS infections, anti-streptococcal, and anti-basal ganglia antibodies (ABGA) were compared between 168 patients (136 males, 32 females) with Tourette syndrome; (median [range] age [25th-75th centile] 10y [8-11y]); median Tourette syndrome duration (25th-75th centile), 3y (1y 3mo-5y 9mo) and a comparison group of 177 patients (117 males, 60 females) with epileptic or sleep disorders median age [25th-75th centile], 10y [8y-1y 6mo]). One hundred and forty-four patients with Tourette syndrome were followed up at 3-month intervals; exacerbations of tics, obsessive-compulsive symptoms, and other psychiatric comorbidities were defined by a bootstrap procedure. The effect of new GAS infections and identification of new ABGA upon risk of exacerbation was assessed using logistic regression analysis. Cross-sectionally, patients with Tourette syndrome exhibited a higher frequency of GAS infection (8% vs 2%; p=0.009), higher anti-streptolysin O (ASO) titres (246 [108-432] vs 125 [53-269]; p<0.001), and higher ABGA frequency (25% vs 8%; p<0.001) than the comparison group. On prospective analysis, ASO titres were persistently elevated in 57% of patients with Tourette syndrome; however, new infections or newly identified ABGA did not predict clinical exacerbations (all p>0.05). Patients with Tourette syndrome might be more prone to GAS infections and develop stronger antibody responses to GAS, probably as a result of underlying immune dysregulation. New GAS infections are unlikely to exert, years after their onset, a major effect upon the severity of neuropsychiatric symptoms. © The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.

Psychological Aspects of Gilles De La Tourette Syndrome.

ERIC Educational Resources Information Center

Grossman, Hildreth Youkilis; And Others

1986-01-01

Evaluated the psychopathological features that may underlie or accompany Gilles de la Tourette Syndrome. Univariate analyses indicated that Tourette subjects scored higher on the following scales of the Minnesota Multiphasic Personality Inventory: Schizophrenia, Depression, Psychopathic Deviate, Psychasthenia and Hypochondriasis. The results…

Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis.

PubMed

de Leeuw, Christiaan; Goudriaan, Andrea; Smit, August B; Yu, Dongmei; Mathews, Carol A; Scharf, Jeremiah M; Verheijen, Mark H G; Posthuma, Danielle

2015-11-01

Tourette syndrome is a heritable neurodevelopmental disorder whose pathophysiology remains unknown. Recent genome-wide association studies suggest that it is a polygenic disorder influenced by many genes of small effect. We tested whether these genes cluster in cellular function by applying gene-set analysis using expert curated sets of brain-expressed genes in the current largest available Tourette syndrome genome-wide association data set, involving 1285 cases and 4964 controls. The gene sets included specific synaptic, astrocytic, oligodendrocyte and microglial functions. We report association of Tourette syndrome with a set of genes involved in astrocyte function, specifically in astrocyte carbohydrate metabolism. This association is driven primarily by a subset of 33 genes involved in glycolysis and glutamate metabolism through which astrocytes support synaptic function. Our results indicate for the first time that the process of astrocyte-neuron metabolic coupling may be an important contributor to Tourette syndrome pathogenesis.

Involvement of astrocyte metabolic coupling in Tourette syndrome pathogenesis

PubMed Central

de Leeuw, Christiaan; Goudriaan, Andrea; Smit, August B; Yu, Dongmei; Mathews, Carol A; Scharf, Jeremiah M; Scharf, J M; Pauls, D L; Yu, D; Illmann, C; Osiecki, L; Neale, B M; Mathews, C A; Reus, V I; Lowe, T L; Freimer, N B; Cox, N J; Davis, L K; Rouleau, G A; Chouinard, S; Dion, Y; Girard, S; Cath, D C; Posthuma, D; Smit, J H; Heutink, P; King, R A; Fernandez, T; Leckman, J F; Sandor, P; Barr, C L; McMahon, W; Lyon, G; Leppert, M; Morgan, J; Weiss, R; Grados, M A; Singer, H; Jankovic, J; Tischfield, J A; Heiman, G A; Verheijen, Mark H G; Posthuma, Danielle

2015-01-01

Tourette syndrome is a heritable neurodevelopmental disorder whose pathophysiology remains unknown. Recent genome-wide association studies suggest that it is a polygenic disorder influenced by many genes of small effect. We tested whether these genes cluster in cellular function by applying gene-set analysis using expert curated sets of brain-expressed genes in the current largest available Tourette syndrome genome-wide association data set, involving 1285 cases and 4964 controls. The gene sets included specific synaptic, astrocytic, oligodendrocyte and microglial functions. We report association of Tourette syndrome with a set of genes involved in astrocyte function, specifically in astrocyte carbohydrate metabolism. This association is driven primarily by a subset of 33 genes involved in glycolysis and glutamate metabolism through which astrocytes support synaptic function. Our results indicate for the first time that the process of astrocyte-neuron metabolic coupling may be an important contributor to Tourette syndrome pathogenesis. PMID:25735483

A Review of Habit Reversal with Childhood Habit Disorders.

ERIC Educational Resources Information Center

Woods, Douglas W.; Miltenberger, Raymond G.

1996-01-01

This paper first reviews four classes of habit disorders in children: motor and vocal tics, nervous habits, stuttering, and Tourette's disorder. It then describes the habit reversal procedure and reviews the literature on its use and variations to treat each of the four classes of habit disorders. Emphasis is on simplified versions of the original…

Exercise, Sports and Tourette Syndrome

MedlinePlus

... Tourette Brain Bank Español ¿Qué es el síndrome de Tourette? Síndrome de Tourette: preguntas frecuentes Viviendo con Tourette Educación Artículos Médicos Listas de médicos y terapeutas Contáctenos Contact Us About Tourette ...

Altered structural connectivity of cortico-striato-pallido-thalamic networks in Gilles de la Tourette syndrome.

PubMed

Worbe, Yulia; Marrakchi-Kacem, Linda; Lecomte, Sophie; Valabregue, Romain; Poupon, Fabrice; Guevara, Pamela; Tucholka, Alan; Mangin, Jean-François; Vidailhet, Marie; Lehericy, Stephane; Hartmann, Andreas; Poupon, Cyril

2015-02-01

Gilles de la Tourette syndrome is a childhood-onset syndrome characterized by the presence and persistence of motor and vocal tics. A dysfunction of cortico-striato-pallido-thalamo-cortical networks in this syndrome has been supported by convergent data from neuro-pathological, electrophysiological as well as structural and functional neuroimaging studies. Here, we addressed the question of structural integration of cortico-striato-pallido-thalamo-cortical networks in Gilles de la Tourette syndrome. We specifically tested the hypothesis that deviant brain development in Gilles de la Tourette syndrome could affect structural connectivity within the input and output basal ganglia structures and thalamus. To this aim, we acquired data on 49 adult patients and 28 gender and age-matched control subjects on a 3 T magnetic resonance imaging scanner. We used and further implemented streamline probabilistic tractography algorithms that allowed us to quantify the structural integration of cortico-striato-pallido-thalamo-cortical networks. To further investigate the microstructure of white matter in patients with Gilles de la Tourette syndrome, we also evaluated fractional anisotropy and radial diffusivity in these pathways, which are both sensitive to axonal package and to myelin ensheathment. In patients with Gilles de la Tourette syndrome compared to control subjects, we found white matter abnormalities in neuronal pathways connecting the cerebral cortex, the basal ganglia and the thalamus. Specifically, striatum and thalamus had abnormally enhanced structural connectivity with primary motor and sensory cortices, as well as paracentral lobule, supplementary motor area and parietal cortices. This enhanced connectivity of motor cortex positively correlated with severity of tics measured by the Yale Global Tics Severity Scale and was not influenced by current medication status, age or gender of patients. Independently of the severity of tics, lateral and medial orbito-frontal cortex, inferior frontal, temporo-parietal junction, medial temporal and frontal pole also had enhanced structural connectivity with the striatum and thalamus in patients with Gilles de la Tourette syndrome. In addition, the cortico-striatal pathways were characterized by elevated fractional anisotropy and diminished radial diffusivity, suggesting microstructural axonal abnormalities of white matter in Gilles de la Tourette syndrome. These changes were more prominent in females with Gilles de la Tourette syndrome compared to males and were not related to the current medication status. Taken together, our data showed widespread structural abnormalities in cortico-striato-pallido-thalamic white matter pathways in patients with Gilles de la Tourette, which likely result from abnormal brain development in this syndrome. © The Author (2014). Published by Oxford University Press on behalf of the Guarantors of Brain.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Comings, D.E.; Wu, S.; Chiu, C.

Polymorphisms of three different dopaminergic genes, dopamine D{sub 2} receptor (DRD2), dopamine {beta}-hydroxylase (D{beta}H), and dopamine transporter (DAT1), were examined in Tourette syndrome (TS) probands, their relatives, and controls. Each gene individually showed a significant correlation with various behavioral variables in these subjects. The additive and subtractive effects of the three genes were examined by genotyping all three genes in the same set of subjects. For 9 of 20 TS associated comorbid behaviors there was a significant linear association between the degree of loading for markers of three genes and the mean behavior scores. The behavior variables showing the significantmore » associations were, in order, attention deficit hyperactivity disorder (ADHD), stuttering, oppositional defiant, tics, conduct, obsessive-compulsive, mania, alcohol abuse, and general anxiety - behaviors that constitute the most overt clinical aspects of TS. For 16 of the 20 behavior scores there was a linear progressive decrease in the mean score with progressively lesser loading for the three gene markers. These results suggest that TS, ADHD, stuttering, oppositional defiant and conduct disorder, and other behaviors associated with TS, are polygenic, due in part to these three dopaminergic genes, and that the genetics of other polygenic psychiatric disorders may be deciphered using this technique. 144 refs., 2 figs., 13 tabs.« less

Neuropsychological Evaluation in the Diagnosis and Treatment of Tourette's Syndrome

ERIC Educational Resources Information Center

Osmon, David C.; Smerz, Jessica M.

2005-01-01

The neurobiological basis of Tourettes syndrome is reviewed for the purpose of presenting a clinically relevant account of the neuropsychology of the disorder for the clinician who is behaviorally oriented. The neuropathology and neuropsychological deficits typically found in Tourettes are reviewed, and a neuropsychological test battery is…

Three Cases of Palatal Tics and Gilles De La Tourette Syndrome.

PubMed

Rizzo, Renata; Cath, Danielle; Pavone, Piero; Tijssen, Marina; Robertson, Mary M

2015-08-01

Five patients with palatal tics and Gilles de la Tourette syndrome have been previously reported. Little is known about the characteristics of palatal tics given that there are so few reports. On one hand, palatal tics may be rare. Alternatively, they may be less well recognized than repetitive eye blinking or sniffing, which are both obvious and, therefore, more often reported. We describe 3 patients with palatal tics and Gilles de la Tourette syndrome. We also review the 5 patients reported in the literature and explore whether there are characteristic features among this group of 8 cases. The 8 patients had the following features: (1) Personal history of other multiple motor/vocal tics, (2) the presence of typical Gilles de la Tourette syndrome comorbidities, (3) positive family history of tics and/or Gilles de la Tourette syndrome comorbidities, (4) the presence of audible "ear clicks," (5) younger age at onset (2 years). We suggest that palatal tics are underreported. © The Author(s) 2014.

A nationwide register study of the characteristics, incidence and validity of diagnosed Tourette syndrome and other tic disorders.

PubMed

Leivonen, Susanna; Voutilainen, Arja; Hinkka-Yli-Salomäki, Susanna; Timonen-Soivio, Laura; Chudal, Roshan; Gissler, Mika; Huttunen, Jukka; Sourander, Andre

2014-09-01

The aim of this study was to describe the characteristics and incidence rates of diagnosed tic disorders in the Finnish Hospital Discharge Register, including changing incidence rates between 1991 and 2010. We also aimed to validate the diagnoses of Tourette's syndrome recorded in the register. Children born between January 1, 1991 and December 31, 2010, who were diagnosed with tic disorders, were identified from the Finnish Hospital Discharge Register (n = 3003). We studied the validity of the Tourette's syndrome diagnoses by reviewing the medical charts of 88 children born since 1997 and carrying out telephone interviews with 55 of their guardians. The incidence rates of all diagnosed tic disorders increased during the study period. A comorbid diagnosis of hyperkinetic disorder diagnosis was recorded in 28.2% of the children with Tourette's syndrome, and the validity of the register-based Tourette's syndrome diagnosis was approximately 95%. This is the first nationwide study to demonstrate the increasing incidence of all register-based tic disorder diagnoses. The validity of the Tourette's syndrome diagnoses in the Finnish Hospital Discharge Register was good, and the data provided are suitable for use in further register-based studies of tic disorders. ©2014 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Educational Considerations for Children with Tourette's Syndrome.

ERIC Educational Resources Information Center

Jones, Kevin; Johnson, Genevieve Marie

1992-01-01

This article provides an introduction to Tourette's Syndrome, an inherited neurological disorder characterized by motor and vocal tics. Considered are prevalence of the syndrome, common characteristics, instructional strategies, and the critical role of the teacher. (Author/DB)

Tourette Syndrome (For Parents)

MedlinePlus

... help their child cope with the condition. About Tics Two types of tics are associated with Tourette syndrome: Motor tics — sudden, apparently uncontrollable movements such as exaggerated eye ...

Chronic motor tic disorder

MedlinePlus

Chronic vocal tic disorder; Tic - chronic motor tic disorder ... Chronic motor tic disorder is more common than Tourette syndrome . Chronic tics may be forms of Tourette syndrome. Tics usually start ...

Comparison of Pausing Behavior in Children Who Stutter and Children Who Have Asperger Syndrome

ERIC Educational Resources Information Center

Beltrame, Jessica Monique; Viera, Renata Alves Torello; Tamanaha, Ana Carina; Arcuri, Claudia Fassin; Osborn, Ellen; Perissinoto, Jacy; Schiefer, Ana Maria

2011-01-01

Purpose: The objective of this research was to compare the number and types of grammatical and non-grammatical silent pauses presented by stutterers and subjects with Asperger syndrome in their narratives. Method: Ten children who stutter and four participants with Asperger syndrome (mean ages of both groups 10 years) were assessed at the Speech…

Stuttering treatment for a school-age child with Down syndrome: a descriptive case report.

PubMed

Harasym, Jessica; Langevin, Marilyn

2012-12-01

Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech, prolonged speech, and stuttered speech. In-clinic speech measures obtained at post-treatment and at 4 months follow-up reflected improvements in fluency of 89.0% and 98.6%, respectively. The participant's beyond-clinic follow-up sample reflected an improvement of 95.5%. Following treatment, the participant demonstrated improved self-confidence, self-esteem, and improved participation and functioning at school. Findings suggest that fluency shaping with parental contingencies may be a viable treatment approach to reduce stuttering in children with Down syndrome. Future research using an experimental research design is warranted. Readers will be able to describe (a) prevalence estimates of stuttering in individuals with Down syndrome, (b) the main components of a fluency shaping program for a child with Down syndrome who stutters and has co-occurring speech and language delays, and (c) speech and parent-, teacher-, and self-report treatment outcomes. Copyright © 2012 Elsevier Inc. All rights reserved.

Performance on Wechsler intelligence scales in children with Tourette syndrome.

PubMed

Debes, Nanette M M M; Lange, Theis; Jessen, Tanja L; Hjalgrim, Helle; Skov, Liselotte

2011-03-01

There is some evidence that Tourette syndrome is associated with cognitive disabilities. To examine the cognitive performance of a clinical cohort of children with Tourette syndrome. 266 children with Tourette syndrome have been examined with Wechsler Intelligence Scales. The presence of the co-morbidities attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) was assessed using validated diagnostic instruments. Eighty healthy controls matched a part of the TS cohort. The children with Tourette syndrome had a mean verbal IQ (VIQ) of 92.9, performance IQ (PIQ) of 87.1, and full-scale IQ (FSIQ) of 88.8. We found statistically significant higher PIQ and FSIQ in the control group compared with a matched TS cohort and a trend towards a higher VIQ among the healthy controls. There was a statistically significant influence of age at onset of tics on PIQ. The children with co-morbid OCD scored higher on FSIQ compared with the other groups. The children with co-morbid ADHD and OCD showed problems in motor tasks and speed tasks and the children with co-morbid ADHD showed attention deficits. Children with Tourette syndrome have lower IQ scores than the general population (but less than one standard deviation below) and our control group. Early onset of tics and the presence of co-morbidities might cause specific deficits on cognitive performance. Copyright © 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Evidence for enhanced multi-component behaviour in Tourette syndrome - an EEG study.

PubMed

Brandt, Valerie C; Stock, Ann-Kathrin; Münchau, Alexander; Beste, Christian

2017-08-10

Evidence suggests that Tourette syndrome is characterized by an increase in dopamine transmission and structural as well as functional changes in fronto-striatal circuits that might lead to enhanced multi-component behaviour integration. Behavioural and neurophysiological data regarding multi-component behaviour was collected from 15 patients with Tourette syndrome (mean age = 30.40 ± 11.10) and 15 healthy controls (27.07 ± 5.44), using the stop-change task. In this task, participants are asked to sometimes withhold responses to a Go stimulus (stop cue) and change hands to respond to an alternative Go stimulus (change cue). Different onset asynchronies between stop and change cues were implemented (0 and 300 ms) in order to vary task difficulty. Tourette patients responded more accurately than healthy controls when there was no delay between stop and change stimulus, while there was no difference in the 300 ms delay condition. This performance advantage was reflected in a smaller P3 event related potential. Enhanced multi-component behaviour in Tourette syndrome is likely based on an enhanced ability to integrate information from multiple sources and translate it into an appropriate response sequence. This may be a consequence of chronic tic control in these patients, or a known fronto-striatal networks hyperconnectivity in Tourette syndrome.

Tourette syndrome

MedlinePlus

... had many motor tics and 1 or more vocal tics, although these tics may not have occurred ... symptoms of Tourette syndrome. A type of talk therapy (coginitive behavioral therapy) called habit-reversal may help ...

A brief history of the European Society for the Study of Tourette Syndrome.

PubMed

Rickards, Hugh; Paschou, Peristera; Rizzo, Renata; Stern, Jeremy S

2013-01-01

The European Society for the Study of Tourette syndrome (ESSTS) was established in Denmark in 2000 by Mary Robertson and Anne Korsgaard. The aims of the organisation are to foster research activity and raise awareness of Tourette syndrome throughout Europe. The organisation went into abeyance in 2002 but was resurrected in 2007 in Bari, Italy. Since that time ESSTS has grown and prospered. We have established elected officers and a constitution. We have successfully applied for three large scale European research grants and have members throughout the European Union. We have held yearly meetings across Europe including two training schools and we have developed successful alliances with patient support groups. ESSTS has developed and published the first European guidelines on assessment, diagnosis and treatment of Tourette syndrome.

Tourette Syndrome and Tic Disorders

PubMed Central

Leckman, James F.

2005-01-01

Objective: This is a practical review of Tourette syndrome, including phenomenology, natural history, and state-of-the-art assessment and treatment. Method: Computerized literature searches were conducted under the keywords Tourette syndrome,tics, and children-adolescents. Results: Studies have documented the natural history of Tourette syndrome and its frequent co-occurrence with attention problems, obsessive-compulsive disorder (OCD), and a range of other mood and anxiety disorders, which are often of primary concern to patients and their families. Proper diagnosis and education are often very helpful for patients, parents, siblings, teachers, and peers. When necessary, available anti-tic treatments have proven efficacious. First-line options include the alpha adrenergic agents and the atypical neuroleptics, as well as behavioral interventions such as habit reversal. Conclusions: The study of tics and Tourette symdrome has led to the development of several pathophysiological models and helped in the development of management options. However, fully explanatory models are still needed that would allow for accurate prognostication in the course of illness and the development of improved treatments. PMID:21152158

Tourette Syndrome

MedlinePlus

... like he's in pain or needs help. These tics are symptoms of Luke's Tourette syndrome. What Is ... the body's brain and nervous system by causing tics — sudden, repetitive movements or sounds that some people ...

Tourette Syndrome

MedlinePlus

... trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies. Information from the National Library of Medicine’s MedlinePlus Tourette Syndrome × What research is ...

Tourette Syndrome (TS): Data and Statistics

MedlinePlus

... Articles & Key Findings Free Materials Info For Families Bullying Info for Health Professionals Info for Education Professionals ... Published: May 22, 2017) Tourette Syndrome: Help Stop Bullying Learn how you can increase acceptance by helping ...

Tourette Syndrome: Help Stop Bullying

MedlinePlus

... Submit Button Past Emails Tourette Syndrome: Help Stop Bullying Language: English (US) Español (Spanish) Recommend on Facebook ... you can increase acceptance by helping to stop bullying of children with TS. Bullying doesn’t just ...

Do individuals with fragile X syndrome show developmental stuttering or not? Comment on "Speech fluency in fragile X syndrome" by van Borsel, Dor and Rondal.

PubMed

Howell, Peter

2008-02-01

Van Borsel, Dor, and Rondal (2007) examined the speech of seven boys and two young male adults with fragile X syndrome and considered whether their speech was comparable to that reported in the developmental stuttering literature. They listed five criteria which led them to conclude that the speech patterns of speakers with fragile X syndrome differed from those observed in developmental stuttering. The differences noted were: 1) distribution of type of dysfluency; 2) the class of word on which dysfluency occurred; 3) whether word length affected dysfluency; 4) number of times words and phrases were repeated; and 5) whether there were influences of material type on fluency (spontaneous speech, repeated material etc.). They concluded that the speech of speakers with fragile X syndrome differed from developmental stuttering. The comparisons that van Borsel et al. (2007) made between participant groups were not for speakers of comparable ages. Comparisons with groups of corresponding ages support the opposite conclusion, namely the young speakers with fragile X syndrome show patterns similar to developmental stuttering.

Deep brain stimulation of the anterior internal capsule for the treatment of Tourette syndrome: technical case report.

PubMed

Flaherty, Alice W; Williams, Ziv M; Amirnovin, Ramin; Kasper, Ekkehard; Rauch, Scott L; Cosgrove, G Rees; Eskandar, Emad N

2005-10-01

Medical treatment of Tourette syndrome is often ineffective or is accompanied by debilitating side effects, therefore prompting the need to evaluate surgical therapies. We present the case of a 37-year-old woman with severe Tourette syndrome since the age of 10 years. Her symptoms included frequent vocalizations and severe head and arm jerks that resulted in unilateral blindness. Trials of more than 40 medications and other therapies had failed to relieve the tics. We implanted bilateral electrodes in the anterior limb of the internal capsule, terminating in the vicinity of the nucleus accumbens. At 18-month follow-up, optimal stimulation continued to lower her tic frequency and severity significantly. Our findings suggest that stimulation of the anterior internal capsule may be a safe and effective procedure for the treatment of Tourette syndrome.

[Tics and Tourette syndrome in literature, cinema and television].

PubMed

Collado-Vázquez, Susana; Carrillo, Jesús M

2013-08-01

Different neurological diseases have often been portrayed in literature, cinema and television. Tics and Tourette syndrome, for example, are commonly represented from different perspectives, which are sometimes very realistic but in some cases are used for more dramatic purposes or to make a character look ridiculous. One of the main effects of these inadequate views is to further stigmatise those who suffer these movement disorders. To review the way tics and Tourette syndrome have been portrayed in certain literary works, films and television. Tics are rapid, stereotypic, involuntary, recurring, non-purposeful movements of the skeletal and pharyngeal-laryngeal muscles. In Gilles de la Tourette syndrome a number of tics are associated to involuntary vocalisations (echolalia, coprolalia). They begin in childhood and are usually associated to obsessive-compulsive behaviours. These disorders have appeared in literature in works such as Little Dorrit, Angel Guerra, La torre de los siete jorobados or Motherless Brooklyn. Film-makers have also shown an interest in tics and Tourette syndrome and they have been portrayed in films such as Young and Innocent, The Tic Code or Matchstick Men. Likewise, a number of television series also contain characters with these disorders, including Shameless, Ally McBeal, Quincy, M.E. or L.A. Law. Tics and Tourette syndrome have frequently been portrayed in literature, cinema and television, sometimes in a very realistic manner. In other cases, however, the way they are dealt with has only helped to create false beliefs and stereotyped images of the disorders.

Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome.

PubMed

Liu, Shiguo; Yu, Xiaoxia; Xu, Quanchen; Cui, Jiajia; Yi, Mingji; Zhang, Xinhua; Ge, Yinlin; Ma, Xu

2015-08-03

Recently, a genome-wide association study has indicated associations between single nucleotide polymorphisms in the Collagen Type XXVII Alpha 1 gene (COL27A1) and Tourette syndrome in several ethnic populations. To clarify the global relevance of the previously identified SNPs in the development of Tourette syndrome, the associations between polymorphisms in COL27A1 and Tourette syndrome were assessed in Chinese trios. PCR-directed sequencing was used to evaluate the genetic contributions of three SNPs in COL27A1(rs4979356, rs4979357 and rs7868992) using haplotype relative risk (HRR) and transmission disequilibrium tests (TDT) with a total of 260 Tourette syndrome trios. The family-based association was significant between Tourette syndrome and rs4979356 (TDT: χ2 = 4.804, P = 0.033; HRR = 1.75, P = 0.002; HHRR = 1.32, P = 0.027), and transmission disequilibrium was suspected for rs4979357 (TDT: χ2 = 3.969, P = 0.053; HRR = 1.84, P = 0.001; HHRR = 1.29, P = 0.044). No statistically significant allele transfer was found for rs7868992 (TDT: χ2 = 2.177, P = 0.158). Although the TDT results did not remain significant after applying the conservative Bonferroni correction (p = 0.005), the significant positive HRR analysis confirmed the possibility of showing transmission disequilibrium, which provides evidence for an involvement of COL27A1in the development of TS. However, these results need to be verified with larger datasets from different populations.

Fine motor skills and interhemispheric transfer in treatment-naive male children with Tourette syndrome.

PubMed

Buse, Judith; August, Julia; Bock, Nathalie; Dörfel, Denise; Rothenberger, Aribert; Roessner, Veit

2012-07-01

This study addressed whether Tourette syndrome is associated with an impairment of fine motor skills or altered interhemispheric transfer. We additionally investigated the association between interhemispheric transfer and size of the corpus callosum. The sample, a subsample of our larger neuroimaging sample, included 27 treatment-naive males with 'pure' Tourette syndrome (age range 10y 2mo-14y 4mo; mean age 11y 10mo, SD 1y 2mo) and 26 matched healthy comparison children (age range 10y 2mo-14y 4mo; mean age 11y 10mo, SD 1y 1mo). A finger tapping task and the Purdue Pegboard were used to assess fine motor skills. Interhemispheric transfer time (ITT) was measured with the Poffenberger paradigm. The neuroanatomical data were derived from our previous neuroimaging study. ITT was negatively correlated with the size of callosal subregion 3 (r=-0.366, p=0.028), indicating that a shorter ITT was associated with a larger corpus callosum. Our findings support the assumption that previously reported impairment of motor skills in Tourette syndrome does not directly result from tics but from other factors such as medication or comorbidities. Following the assumption that callosal subregion 3 in Tourette syndrome grows as a consequence of tic performance over years, our preliminary results suggest that this growth might accelerate interhemispheric transfer in Tourette syndrome. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Motor Tics, Tourette Syndrome, and Learning Disabilities.

ERIC Educational Resources Information Center

Lerer, Robert J.

1987-01-01

Complex motor tics associated with vocal tics indicate a high likelihood of Tourette syndrome; children with this syndrome may also have learning disabilities and attentional disorders. Individuals may be treated with stimulant drugs which may precipitate or exacerbate tics. Pharmacotherapy is available for management of tics and attentional…

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome

PubMed Central

Patel, Chirag; Cooper-Charles, Lisa; McMullan, Dominic J; Walker, Judith M; Davison, Val; Morton, Jenny

2011-01-01

Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1–7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding for a human homologue of the yeast inner mitochondrial membrane peptidase subunit 2, was disrupted by the breakpoint on 7q31.1, with deletion of exons 1–3 of the gene. The IMMP2L gene has previously been proposed as a candidate gene for Tourette syndrome, and our case provides further evidence of its possible role in the pathogenesis. The deleted region (7q31.1–7q31.2) of 7.2 Mb of genomic DNA also encompasses numerous genes, including FOXP2, associated with verbal dyspraxia, and the CFTR gene. PMID:21386874

Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.

PubMed

Patel, Chirag; Cooper-Charles, Lisa; McMullan, Dominic J; Walker, Judith M; Davison, Val; Morton, Jenny

2011-06-01

Gilles de la Tourette syndrome is a complex neuropsychiatric disorder with a strong genetic basis. We identified a male patient with Tourette syndrome-like tics and an apparently balanced de novo translocation [46,XY,t(2;7)(p24.2;q31)]. Further analysis using array comparative genomic hybridisation (CGH) revealed a cryptic deletion at 7q31.1-7q31.2. Breakpoints disrupting this region have been reported in one isolated and one familial case of Tourette syndrome. In our case, IMMP2L, a gene coding for a human homologue of the yeast inner mitochondrial membrane peptidase subunit 2, was disrupted by the breakpoint on 7q31.1, with deletion of exons 1-3 of the gene. The IMMP2L gene has previously been proposed as a candidate gene for Tourette syndrome, and our case provides further evidence of its possible role in the pathogenesis. The deleted region (7q31.1-7q31.2) of 7.2 Mb of genomic DNA also encompasses numerous genes, including FOXP2, associated with verbal dyspraxia, and the CFTR gene.

Gilles de la Tourette syndrome: response to electroconvulsive therapy.

PubMed

Karadenizli, Demet; Dilbaz, Nesrin; Bayam, Goksel

2005-12-01

Tourette syndrome is a chronic disease characterized by vocal and motor ticks. Self-injurious behavior is observed in one third of the patients and can be life-threatening. Current medical therapy includes dopamine receptor antagonists and atypical antipsychotics. In certain cases, there has been some evidence about the efficacy of electroconvulsive therapy (ECT). The case study below is a Tourette syndrome patient with self-injurious behavior and psychotic features and poor response to medical therapy. Two years of remission was achieved after 7 sessions of ECT and carbamezapine maintance therapy. In conclusion, ECT can be used as an efficacious treatment modality for Tourette patients with self-injurious behavior, psychotic features, or for those that are unresponsive to traditional methods.

The Need for Self-Report Data in the Assessment of Stuttering Therapy Efficacy: Repetitions and Prolongations of Speech. The Stuttering Syndrome

ERIC Educational Resources Information Center

Guntupalli, Vijaya K.; Kalinowski, Joseph; Saltuklaroglu, Tim

2006-01-01

Background: Bloodstein reviewed hundreds of studies that investigated the efficacy of therapeutic protocols for ameliorating the stuttering syndrome. Surprisingly, almost all were effective in significantly reducing overtly perceptible behaviours such as repetitions and prolongations of speech sounds. These results seem highly improbable…

Modalities of Educational Management of the Tourette Syndrome Child.

ERIC Educational Resources Information Center

Price, Renee

Questionnaires were sent to 42 schools in New Jersey to determine the educational procedures used with students having Tourette Syndrome, a neurological condition resulting in body tics and inappropriate vocalization. Parents of an elementary child with the syndrome who was mainstreamed were interviewed and his classroom teacher was also queried…

Kids' Quest: Tourette

MedlinePlus

... know about Tourette » Return to Steps World-Wide Web Search CDC’s website on Tourette syndrome This site ... outside this website We provide links to other web pages if you want to learn more about ...

Multispectral brain morphometry in Tourette syndrome persisting into adulthood

PubMed Central

Martino, Davide; Cavanna, Andrea E.; Hutton, Chloe; Orth, Michael; Robertson, Mary M.; Critchley, Hugo D.; Frackowiak, Richard S.

2010-01-01

Tourette syndrome is a childhood-onset neuropsychiatric disorder with a high prevalence of attention deficit hyperactivity and obsessive-compulsive disorder co-morbidities. Structural changes have been found in frontal cortex and striatum in children and adolescents. A limited number of morphometric studies in Tourette syndrome persisting into adulthood suggest ongoing structural alterations affecting frontostriatal circuits. Using cortical thickness estimation and voxel-based analysis of T1- and diffusion-weighted structural magnetic resonance images, we examined 40 adults with Tourette syndrome in comparison with 40 age- and gender-matched healthy controls. Patients with Tourette syndrome showed relative grey matter volume reduction in orbitofrontal, anterior cingulate and ventrolateral prefrontal cortices bilaterally. Cortical thinning extended into the limbic mesial temporal lobe. The grey matter changes were modulated additionally by the presence of co-morbidities and symptom severity. Prefrontal cortical thickness reduction correlated negatively with tic severity, while volume increase in primary somatosensory cortex depended on the intensity of premonitory sensations. Orbitofrontal cortex volume changes were further associated with abnormal water diffusivity within grey matter. White matter analysis revealed changes in fibre coherence in patients with Tourette syndrome within anterior parts of the corpus callosum. The severity of motor tics and premonitory urges had an impact on the integrity of tracts corresponding to cortico-cortical and cortico-subcortical connections. Our results provide empirical support for a patho-aetiological model of Tourette syndrome based on developmental abnormalities, with perturbation of compensatory systems marking persistence of symptoms into adulthood. We interpret the symptom severity related grey matter volume increase in distinct functional brain areas as evidence of ongoing structural plasticity. The convergence of evidence from volume and water diffusivity imaging strengthens the validity of our findings and attests to the value of a novel multimodal combination of volume and cortical thickness estimations that provides unique and complementary information by exploiting their differential sensitivity to structural change. PMID:21071387

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

PubMed

Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

2011-11-05

To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

Stories that Promote Understanding of Children with Special Needs: A Look at Autism Spectrum Disorders, Tourette Syndrome, Down Syndrome, and Attention Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Maples, Lucy; Applin, Janet L.

2009-01-01

This article takes on the issue of understanding children with special needs by providing an annotated bibliography of stories about children with special needs. Four areas are addressed: autism spectrum disorders, Down syndrome, Tourette syndrome, and Attention Deficit/Hyperactivity Disorder. Each area is described with its typical…

Chasing Tics in the Human Brain: Development of Open, Scheduled and Closed Loop Responsive Approaches to Deep Brain Stimulation for Tourette Syndrome

PubMed Central

Martinez-Ramirez, Daniel; Rossi, Peter J.; Peng, Zhongxing; Gunduz, Aysegul; Okun, Michael S.

2015-01-01

Tourette syndrome is a childhood-onset disorder characterized by a combination of motor and vocal tics, often associated with psychiatric comorbidities including attention deficit and hyperactivity disorder and obsessive-compulsive disorder. Despite an onset early in life, half of patients may present symptoms in adulthood, with variable degrees of severity. In select cases, the syndrome may lead to significant physical and social impairment, and a worrisome risk for self injury. Evolving research has provided evidence supporting the idea that the pathophysiology of Tourette syndrome is directly related to a disrupted circuit involving the cortex and subcortical structures, including the basal ganglia, nucleus accumbens, and the amygdala. There has also been a notion that a dysfunctional group of neurons in the putamen contributes to an abnormal facilitation of competing motor responses in basal ganglia structures ultimately underpinning the generation of tics. Surgical therapies for Tourette syndrome have been reserved for a small group of patients not responding to behavioral and pharmacological therapies, and these therapies have been directed at modulating the underlying pathophysiology. Lesion therapy as well as deep brain stimulation has been observed to suppress tics in at least some of these cases. In this article, we will review the clinical aspects of Tourette syndrome, as well as the evolution of surgical approaches and we will discuss the evidence and clinical responses to deep brain stimulation in various brain targets. We will also discuss ongoing research and future directions as well as approaches for open, scheduled and closed loop feedback-driven electrical stimulation for the treatment of Tourette syndrome. PMID:25851890

Tourette Syndrome: A Collaborative Approach Focused on Empowering Students, Families and Teachers

ERIC Educational Resources Information Center

Christner, Beth; Dieker, Lisa A.

2008-01-01

Tourette syndrome (TS) is a neurobiological disorder marked by a wide range of involuntary motor and vocal movements and sounds called "tics" (American Psychiatric Association, APA, 2000). This syndrome is frequently misunderstood and difficult to diagnose (Chamberlain, 2003). Recent television shows featuring the topic of TS such as "The Oprah…

Gilles de la Tourette Syndrome: A Review and Implications for Educators.

ERIC Educational Resources Information Center

Lemons, Laurie A.; Barber, William H.

1991-01-01

Gilles de la Tourette syndrome is a disorder characterized by multiple involuntary motor and verbal tics. This review covers the history, symptoms, diagnostic criteria, past and present treatments, associated disorders, and various educational techniques. (Author/DB)

Role of the right dorsal anterior insula in the urge to tic in Tourette syndrome.

PubMed

Tinaz, Sule; Malone, Patrick; Hallett, Mark; Horovitz, Silvina G

2015-08-01

The mid-posterior part of the insula is involved in processing bodily sensations and urges and is activated during tic generation in Tourette syndrome. The dorsal anterior part of the insula, however, integrates sensory and emotional information with cognitive valuation and is implicated in interoception. The right dorsal anterior insula also participates in urge suppression in healthy subjects. This study examined the role of the right dorsal anterior insula in the urge to tic in Tourette syndrome. Resting-state functional magnetic resonance imaging was performed in 13 adult Tourette patients and 13 matched controls. The role of the right dorsal anterior insula within the urge-tic network was investigated using graph theory-based neural network analysis. The functional connectivity of the right dorsal anterior insula was also correlated with urge and tic severity. Even though the patients did not exhibit any overt tics, the right dorsal anterior insula demonstrated higher connectivity, especially with the frontostriatal nodes of the urge-tic network in patients compared with controls. The functional connectivity between the right dorsal anterior insula and bilateral supplementary motor area also correlated positively with urge severity in patients. These results suggest that the right dorsal anterior insula is part of the urge-tic network and could influence the urge- and tic-related cortico-striato-thalamic regions even during rest in Tourette syndrome. It might be responsible for heightened awareness of bodily sensations generating premonitory urges in Tourette syndrome. © 2015 International Parkinson and Movement Disorder Society.

Brief Report: Cases for an Association between Tourette Syndrome, Autistic Disorder, and Schizophrenia-Like Disorder.

ERIC Educational Resources Information Center

Sverd, Jeffrey; And Others

1993-01-01

This paper reports on two children diagnosed as having co-occurring autistic disorder, schizophrenia-like psychosis, and Tourette syndrome, and two autistic adults who had tics and episodes of schizophrenia-like psychosis. (JDD)

Problem Behaviors & Tourette Syndrome. Revised.

ERIC Educational Resources Information Center

Bruun, Ruth Dowling; And Others

This pamphlet discusses behavioral problems which are sometimes associated with Tourette Syndrome (TS), along with suggestions for parents to help manage these behaviors. Consideration is given to the following problems: obsessive-compulsive symptoms; attention deficit hyperactivity disorder; aggressive and explosive behaviors; self-injurious…

Association of Tourette Syndrome and Chronic Tic Disorders With Objective Indicators of Educational Attainment: A Population-Based Sibling Comparison Study.

PubMed

Pérez-Vigil, Ana; Fernández de la Cruz, Lorena; Brander, Gustaf; Isomura, Kayoko; Jangmo, Andreas; Kuja-Halkola, Ralf; Hesselmark, Eva; D'Onofrio, Brian M; Larsson, Henrik; Mataix-Cols, David

2018-05-29

The influence of Tourette syndrome and chronic tic disorders on academic performance has not been objectively quantified. To investigate the association of Tourette syndrome and chronic tic disorders with objectively measured educational outcomes, adjusting for measured covariates and unmeasured factors shared between siblings and taking common psychiatric comorbidities into account. A population-based birth cohort consisting of all individuals born in Sweden from 1976 to 1998 was followed up until December 2013. Individuals with organic brain disorders, mental retardation, and 2 foreign-born parents were excluded. We further identified families with at least 2 singleton full siblings and families with siblings discordant for Tourette syndrome or chronic tic disorders. Previously validated International Classification of Diseases diagnoses of Tourette syndrome or chronic tic disorders in the Swedish National Patient Register. Eligibility to access upper secondary school after compulsory education, finishing upper secondary school, starting a university degree, and finishing a university degree. Of the 2 115 554 individuals in the cohort, 3590 had registered a diagnosis of Tourette syndrome or a chronic tic disorder in specialist care (of whom 2822 [78.6%] were male; median [interquartile] age at first diagnosis, 14.0 [11-18] years). Of 726 198 families with at least 2 singleton full siblings, 2697 included siblings discordant for these disorders. Compared with unexposed individuals, people with Tourette syndrome or chronic tic disorders were significantly less likely to pass all core and additional courses at the end of compulsory school (odds ratios ranging from 0.23 [95% CI, 0.20-0.26] for the handcraft textile/wood course to 0.36 [95% CI, 0.31-0.41] for the English language course) and to access a vocational program (adjusted OR [aOR], 0.31; 95% CI, 0.28-0.34) or academic program (aOR, 0.43; 95% CI, 0.39-0.47) in upper secondary education. Individuals with the disorders were also less likely to finish upper secondary education (aOR, 0.35; 95% CI, 0.32-0.37), start a university degree (aOR, 0.41; 95% CI, 0.37-0.46), and finish a university degree (aOR, 0.39; 95% CI, 0.32-0.48). The results were only marginally attenuated in the fully adjusted sibling comparison models. Exclusion of patients with neuropsychiatric comorbidities, particularly attention-deficit/hyperactivity disorder and pervasive developmental disorders, resulted in attenuated estimates, but patients with Tourette syndrome or chronic tic disorders were still significantly impaired across all outcomes. Help-seeking individuals with Tourette syndrome or chronic tic disorders seen in specialist settings experience substantial academic underachievement across all educational levels, spanning from compulsory school to university, even after accounting for multiple confounding factors and psychiatric comorbidities.

Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report

PubMed Central

2011-01-01

Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches. PMID:22054059

A calendar savant with autism and Tourette syndrome. Response to treatment and thoughts on the interrelationships of these conditions.

PubMed

Nelson, E C; Pribor, E F

1993-06-01

A case of a calendar savant with infantile autism and Tourette syndrome is presented. Pharmacotherapy and comorbidity issues are discussed in terms of the interrelationships of these conditions and obsessive-compulsive disorder.

Tourette Syndrome: A Review and Educational Implications.

ERIC Educational Resources Information Center

Bauer, Anne M.; Shea, Thomas M.

1984-01-01

Tourette Syndrome, a condition characterized by involuntary muscular and verbal tics, is defined, its course described, incidence noted (possibly 1.6 percent of the population), etiology considered (from viewpoints of psychogenic and organic theories), treatment (primarily pharmaceutical therapy) discussed, and educational approaches examined.…

Tourette Syndrome & the School Psychologist. Revised.

ERIC Educational Resources Information Center

Hagin, Rosa A.

This pamphlet alerts school psychologists to the educational implications of Tourette Syndrome (TS) and provides information on: the nature of the disorder and its incidence, diagnostic criteria, etiology, treatment, and considerations in testing and classroom accommodations. TS is characterized as a complex neurobiological disorder with…

GDNF Gene Is Associated With Tourette Syndrome in a Family Study

PubMed Central

Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A.; King, Robert A.; Heiman, Gary A.; Mir, Pablo

2016-01-01

Background Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. Methods We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). Results The polymorphism rs3096140 in glial cell line–derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10−4). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. Conclusions As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. PMID:26096985

GDNF gene is associated with tourette syndrome in a family study.

PubMed

Huertas-Fernández, Ismael; Gómez-Garre, Pilar; Madruga-Garrido, Marcos; Bernal-Bernal, Inmaculada; Bonilla-Toribio, Marta; Martín-Rodríguez, Juan Francisco; Cáceres-Redondo, María Teresa; Vargas-González, Laura; Carrillo, Fátima; Pascual, Alberto; Tischfield, Jay A; King, Robert A; Heiman, Gary A; Mir, Pablo

2015-07-01

Tourette syndrome is a disorder characterized by persistent motor and vocal tics, and frequently accompanied by the comorbidities attention deficit hyperactivity disorder and obsessive-compulsive disorder. Impaired synaptic neurotransmission has been implicated in its pathogenesis. Our aim was to investigate the association of 28 candidate genes, including genes related to synaptic neurotransmission and neurotrophic factors, with Tourette syndrome. We genotyped 506 polymorphisms in a discovery cohort from the United States composed of 112 families and 47 unrelated singletons with Tourette syndrome (201 cases and 253 controls). Genes containing significant polymorphisms were imputed to fine-map the signal(s) to potential causal variants. Allelic analyses in Tourette syndrome cases were performed to check the role in attention deficit hyperactivity disorder and obsessive-compulsive disorder comorbidities. Target polymorphisms were further studied in a replication cohort from southern Spain composed of 37 families and three unrelated singletons (44 cases and 73 controls). The polymorphism rs3096140 in glial cell line-derived neurotrophic factor gene (GDNF) was significant in the discovery cohort after correction (P = 1.5 × 10(-4) ). No linkage disequilibrium was found between rs3096140 and other functional variants in the gene. We selected rs3096140 as target polymorphism, and the association was confirmed in the replication cohort (P = 0.01). No association with any comorbidity was found. As a conclusion, a common genetic variant in GDNF is associated with Tourette syndrome. A defect in the production of GDNF could compromise the survival of parvalbumin interneurons, thus altering the excitatory/inhibitory balance in the corticostriatal circuitry. Validation of this variant in other family cohorts is necessary. © 2015 International Parkinson and Movement Disorder Society.

The neural circuits that generate tics in Tourette's syndrome.

PubMed

Wang, Zhishun; Maia, Tiago V; Marsh, Rachel; Colibazzi, Tiziano; Gerber, Andrew; Peterson, Bradley S

2011-12-01

The purpose of this study was to examine neural activity and connectivity within cortico-striato-thalamo-cortical circuits and to reveal circuit-based neural mechanisms that govern tic generation in Tourette's syndrome. Functional magnetic resonance imaging data were acquired from 13 individuals with Tourette's syndrome and 21 healthy comparison subjects during spontaneous or simulated tics. Independent component analysis with hierarchical partner matching was used to isolate neural activity within functionally distinct regions of cortico-striato-thalamo-cortical circuits. Granger causality was used to investigate causal interactions among these regions. The Tourette's syndrome group exhibited stronger neural activity and interregional causality than healthy comparison subjects throughout all portions of the motor pathway, including the sensorimotor cortex, putamen, pallidum, and substantia nigra. Activity in these areas correlated positively with the severity of tic symptoms. Activity within the Tourette's syndrome group was stronger during spontaneous tics than during voluntary tics in the somatosensory and posterior parietal cortices, putamen, and amygdala/hippocampus complex, suggesting that activity in these regions may represent features of the premonitory urges that generate spontaneous tic behaviors. In contrast, activity was weaker in the Tourette's syndrome group than in the healthy comparison group within portions of cortico-striato-thalamo-cortical circuits that exert top-down control over motor pathways (the caudate and anterior cingulate cortex), and progressively less activity in these regions accompanied more severe tic symptoms, suggesting that faulty activity in these circuits may result in their failure to control tic behaviors or the premonitory urges that generate them. Our findings, taken together, suggest that tics are caused by the combined effects of excessive activity in motor pathways and reduced activation in control portions of cortico-striato-thalamo-cortical circuits.

Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome

PubMed Central

Liu, Shiguo; Yu, Xiaoxia; Xu, Quanchen; Cui, Jiajia; Yi, Mingji; Zhang, Xinhua; Ge, Yinlin; Ma, Xu

2015-01-01

Recently, a genome-wide association study has indicated associations between single nucleotide polymorphisms in the Collagen Type XXVII Alpha 1 gene (COL27A1) and Tourette syndrome in several ethnic populations. To clarify the global relevance of the previously identified SNPs in the development of Tourette syndrome, the associations between polymorphisms in COL27A1and Tourette syndrome were assessed in Chinese trios. PCR-directed sequencing was used to evaluate the genetic contributions of three SNPs in COL27A1(rs4979356, rs4979357 and rs7868992) using haplotype relative risk (HRR) and transmission disequilibrium tests (TDT) with a total of 260 Tourette syndrome trios. The family-based association was significant between Tourette syndrome and rs4979356 (TDT: χ2 = 4.804, P = 0.033; HRR = 1.75, P = 0.002; HHRR = 1.32, P = 0.027), and transmission disequilibrium was suspected for rs4979357 (TDT: χ2 = 3.969, P = 0.053; HRR = 1.84, P = 0.001; HHRR = 1.29, P = 0.044). No statistically significant allele transfer was found for rs7868992 (TDT: χ2 = 2.177, P = 0.158). Although the TDT results did not remain significant after applying the conservative Bonferroni correction (p = 0.005), the significant positive HRR analysis confirmed the possibility of showing transmission disequilibrium, which provides evidence for an involvement of COL27A1in the development of TS. However, these results need to be verified with larger datasets from different populations. PMID:26235311

Time Processing in Children with Tourette's Syndrome

ERIC Educational Resources Information Center

Vicario, Carmelo Mario; Martino, Davide; Spata, Felice; Defazio, Giovanni; Giacche, Roberta; Martino, Vito; Rappo, Gaetano; Pepi, Anna Maria; Silvestri, Paola Rosaria; Cardona, Francesco

2010-01-01

Background: Tourette syndrome (TS) is characterized by dysfunctional connectivity between prefrontal cortex and sub-cortical structures, and altered meso-cortical and/or meso-striatal dopamine release. Since time processing is also regulated by fronto-striatal circuits and modulated by dopaminergic transmission, we hypothesized that time…

Tourette Syndrome and Associated Features and the School Aged Child.

ERIC Educational Resources Information Center

Willis, Christopher

Tourette Syndrome (TS) is described as a genetically based, chronic constellation of neurobehavioral symptoms and associated features involving repetitive, simple, and/or complex motor and phonic tics. Treatment generally involves neuroleptic medication. Symptoms of obsessive-compulsive disorder, attention deficit hyperactive disorder, learning…

Understanding Tourette Syndrome: An Educators' Guide for the Inclusive Classroom.

ERIC Educational Resources Information Center

Knight, Diane

1999-01-01

This guide to Tourette Syndrome addresses prevalence and etiology, associated behaviors (such as obsessive-compulsive disorder and attention deficit hyperactivity disorder), treatment approaches and medication, and classroom management techniques (such as handling tic release/stress and managing hyperactivity/controlling attentional impulses). (DB)

Microglial Dysregulation in OCD, Tourette Syndrome, and PANDAS

PubMed Central

2016-01-01

There is accumulating evidence that immune dysregulation contributes to the pathophysiology of obsessive-compulsive disorder (OCD), Tourette syndrome, and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). The mechanistic details of this pathophysiology, however, remain unclear. Here we focus on one particular component of the immune system: microglia, the brain's resident immune cells. The role of microglia in neurodegenerative diseases has been understood in terms of classic, inflammatory activation, which may be both a consequence and a cause of neuronal damage. In OCD and Tourette syndrome, which are not characterized by frank neural degeneration, the potential role of microglial dysregulation is much less clear. Here we review the evidence for a neuroinflammatory etiology and microglial dysregulation in OCD, Tourette syndrome, and PANDAS. We also explore new hypotheses as to the potential contributions of microglial abnormalities to pathophysiology, beyond neuroinflammation, including failures in neuroprotection, lack of support for neuronal survival, and abnormalities in synaptic pruning. Recent advances in neuroimaging and animal model work are creating new opportunities to elucidate these issues. PMID:28053994

Microglial Dysregulation in OCD, Tourette Syndrome, and PANDAS.

PubMed

Frick, Luciana; Pittenger, Christopher

2016-01-01

There is accumulating evidence that immune dysregulation contributes to the pathophysiology of obsessive-compulsive disorder (OCD), Tourette syndrome, and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS). The mechanistic details of this pathophysiology, however, remain unclear. Here we focus on one particular component of the immune system: microglia, the brain's resident immune cells. The role of microglia in neurodegenerative diseases has been understood in terms of classic, inflammatory activation, which may be both a consequence and a cause of neuronal damage. In OCD and Tourette syndrome, which are not characterized by frank neural degeneration, the potential role of microglial dysregulation is much less clear. Here we review the evidence for a neuroinflammatory etiology and microglial dysregulation in OCD, Tourette syndrome, and PANDAS. We also explore new hypotheses as to the potential contributions of microglial abnormalities to pathophysiology, beyond neuroinflammation, including failures in neuroprotection, lack of support for neuronal survival, and abnormalities in synaptic pruning. Recent advances in neuroimaging and animal model work are creating new opportunities to elucidate these issues.

Gilles de la Tourette and the discovery of Tourette syndrome. Includes a translation of his 1884 article.

PubMed

Lajonchere, C; Nortz, M; Finger, S

1996-06-01

In 1885, Gilles de la Tourette described 9 patients who suffered from a disorder characterized by involuntary movements, echolalia, echopraxia, coprolalia, and strange, uncontrollable sounds. In his article, Gilles de la Tourette presented some earlier descriptions of this disorder. To appreciate what first led Gilles de la Tourette to Tourette syndrome, however, it is necessary to turn to an article that he published a year earlier. In his 1884 article, Gilles de la Tourette cited several movement disorders that he thought were similar to each other, yet different from true chorea. After describing these disorders, namely, "jumping" of Maine, latah of Malaysia, and miryachit of Siberia, he briefly mentioned a boy in Charcot's ward in Paris, France, who seemed to exhibit the same condition. In an addendum, he then said that other cases were now surfacing in Paris and that he would write an additional article describing these individuals. To achieve a more thorough understanding of the events that led Gilles de la Tourette to his 1885 description of the disorder that now bears his name, we herein present an English-language translation of his 1884 article along with a commentary.

Neurobiology of the premonitory urge in Tourette syndrome: Pathophysiology and treatment implications

PubMed Central

Cavanna, Andrea E.; Black, Kevin J; Hallett, Mark; Voon, Valerie

2017-01-01

Motor and vocal tics are relatively common motor manifestations identified as the core features of Tourette syndrome. Although traditional descriptions have focused on objective phenomenological observations, such as anatomical location, number and frequency of tics, patients’ first-person accounts have consistently reported characteristic subjective correlates. These sensory phenomena are often described as a feeling of mounting inner tension or urge to move (“premonitory urge”), which is transiently relieved by tic expression. This paper reviews the existing literature on the clinical and neurobiological aspects of the premonitory urge in patients with Tourette syndrome, with focus on its pathophysiology and possible treatment implications. PMID:28121259

Identifying the Child with Gilles de la Tourette Syndrome.

ERIC Educational Resources Information Center

Anderson, Donna J.

1993-01-01

This article presents a brief introduction to Gilles de la Tourette Syndrome (a neuropsychiatric disorder characterized by motor and vocal tics and obsessive-compulsive behaviors). It describes the nature of the disorder, treatment, and service provision (evaluation and assessment and the Individual Education Plan). (DB)

Tourette's Syndrome and Tics: Relevance for School Psychologists.

ERIC Educational Resources Information Center

Wodrich, David L.

1998-01-01

Argues that Tourette's Syndrome and tic disorders occur commonly among school-age children; that students affected with the condition often experience recognizable school, behavioral-emotional, and interpersonal difficulties; and that they may benefit if school psychologists identified the disorder and participated in the treatment. Suggests that…

New Light on Autism and Other Puzzling Disorders of Childhood. Science Reports.

ERIC Educational Resources Information Center

Yahraes, Herbert

The pamphlet discusses several puzzling disorders of childhood, including autism, atypical personality development (childhood psychosis), psychosocial dwarfism, and Tourette's syndrome. Psychosocial dwarfism is said to be characterized by a marked reduction in physical development and by immaturity in behavior, while Tourette's syndrome involves…

Clinical Psychological Testing in Tourette's Syndrome

ERIC Educational Resources Information Center

Shapiro, Elaine; And Others

1974-01-01

Evaluates these hypotheses: 1) psychological test indices of organic impairment are more frequent in Tourette patients than in a normal population, and 2) signs of organic impairment are more frequent in Tourette patients on psychiatric, neurological, and electroencephalographic examination than in the general population. (Author/RC)

Tourette Syndrome: School-Based Interventions for Tics and Associated Conditions

ERIC Educational Resources Information Center

Koutsoklenis, Athanasios; Theodoridou, Zoe

2012-01-01

Tourette syndrome (TS) is a neurological disorder characterized by motor and phonic tics that follow a fluctuating pattern of severity, intensity and frequency. TS is often associated with other conditions such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder and learning difficulties. This complex phenotype affects the…

Tourette Syndrome in the Classroom

ERIC Educational Resources Information Center

Coffman, Amanda

2012-01-01

Tourette syndrome is a neurodevelopmental disorder believed to be genetic. The most visible symptom is the presence of tics. These involuntary movements or sounds can range from simple (sniffing, throat clearing, blinking) to complex (words or phrases, hopping, body contortions). They may be frequent for a few weeks, then fade away almost…

Gilles de la Tourette Syndrome: A Case Study.

ERIC Educational Resources Information Center

Hallenberg, Harvey

1997-01-01

Describes a Montessori teacher's experience with a sufferer of Tourette's syndrome, a dysfunction characterized by motor and vocal tics. Studies the progress over a school year, including work on academic skills utilizing the Montessori method and behavior. Shares research, successes, and failures in trying to reach the child. (SD)

Increasing the Effectiveness of Education for Students with Tourette Syndrome.

ERIC Educational Resources Information Center

Wilson, Jeni; Shrimpton, Bradley

This paper examines the educational implications for students with Tourette syndrome (TS) and outlines a multi-dimensional approach for improving their education. It presents data from two qualitative studies in Australia. TS is a debilitating neurological disorder that causes involuntary vocal and motor tics. The first study investigated the…

Tourette Syndrome: A Case for Establishing the Individual Needs of Children at Risk.

ERIC Educational Resources Information Center

Wilson, Jeni; Shrimpton, Bradley

Tourette Syndrome (TS) is a neurological disorder characterized by multiple, involuntary, and repetitive motor and vocal tics. This paper addresses the educational needs of students with TS noting that, without proper intervention and appropriate learning experiences, these children often experience personal distress, reduced self-esteem, social…

Serving Clients with Tourette Syndrome: A Manual for Service Providers.

ERIC Educational Resources Information Center

Meyers, Abbey S.

The booklet is intended to provide an overview of Tourette Syndrome, (TS), a neurological movement disorder characterized by multiple involuntary tics, uncontrollable vocalizations, and a range of behavior problems including attention deficit and hyperactivity. Typical characteristics of TS are described along with information on etiology,…

Tourette Syndrome: A Training Day for Teachers.

ERIC Educational Resources Information Center

Chowdhury, Uttom; Christie, Deborah

2002-01-01

This article describes a Tourette syndrome training day for teachers facilitated by members of the Tic Disorders Clinic at Great Ormond Street Hospital in England. The day provided a mix of information giving and discussion of current practice. Outcomes of the day are related to professional knowledge and experience. (Contains references.) (CR)

Tourette Syndrome: Information for School Nurses

ERIC Educational Resources Information Center

Golder, Tracy

2010-01-01

Tourette syndrome (TS) is a neurobehavioral disorder that consists of simple and complex tics. This disorder can significantly affect a child's self-esteem and academic success. Although some believe that only adults are affected, this disorder occurs most frequently in early childhood and symptoms decrease with age. Diagnosis of this disorder can…

Peer Victimization in Youth with Tourette Syndrome and Other Chronic Tic Disorders

ERIC Educational Resources Information Center

Zinner, Samuel H.; Conelea, Christine A.; Glew, Gwen M.; Woods, Douglas W.; Budman, Cathy L.

2012-01-01

Chronic tic disorders including Tourette syndrome have negative impact across multiple functional domains. We explored associations between peer victimization status and tic subtypes, premonitory urges, internalizing symptoms, explosive outbursts, and quality of life among youth with chronic tic disorders, as part of the internet-based omnibus…

Treating Tourette Syndrome and Tic Disorders: A Guide for Practitioners

ERIC Educational Resources Information Center

Woods, Douglas W., Ed.; Piacentini, John C., Ed.; Walkup, John T., Ed

2007-01-01

Grounded in a comprehensive model of Tourette syndrome (TS) and related disorders, this state-of-the-art volume provides a multidisciplinary framework for assessment and treatment. Leading authorities present the latest knowledge on the neurobehavioral underpinnings of TS, its clinical presentation, and how to distinguish it from frequently…

Perceived Usefulness of Learning Strategies by Children with Tourette Syndrome Plus, Their Parents and Their Teachers

ERIC Educational Resources Information Center

Thomas, Roger; Carroll, Alan; Chomin, Elizabeth; Williamson, Tyler; Beran, Tanya; Palacios-Derflingher, Luz; Drummond, Neil

2013-01-01

Objective: Children with Tourette syndrome and other co-morbidities (abbreviated hereafter to TS+) experience significant learning difficulties. We wished to identify educational strategies that these students, their parents and teachers considered useful. Design: An "educational toolkit" was compiled of 84 strategies identified by…

How Relevant Are GFAP Autoantibodies in Autism and Tourette Syndrome?

ERIC Educational Resources Information Center

Kirkman, Nikki J.; Libbey, Jane E.; Sweeten, Thayne L.; Coon, Hilary H.; Miller, Judith N.; Stevenson, Edward K.; Lainhart, Janet E.; McMahon, William M.; Fujinami, Robert S.

2008-01-01

Controversy exists over the role of autoantibodies to central nervous system antigens in autism and Tourette Syndrome. We investigated plasma autoantibody titers to glial fibrillary acidic protein (GFAP) in children with classic onset (33) and regressive onset (26) autism, controls (25, healthy age- and gender-matched) and individuals with…

Widespread abnormality of the γ-aminobutyric acid-ergic system in Tourette syndrome

PubMed Central

Bagic, Anto; Simmons, Janine M.; Mari, Zoltan; Bonne, Omer; Xu, Ben; Kazuba, Diane; Herscovitch, Peter; Carson, Richard E.; Murphy, Dennis L.; Drevets, Wayne C.; Hallett, Mark

2012-01-01

Dysfunction of the γ-aminobutyric acid-ergic system in Tourette syndrome may conceivably underlie the symptoms of motor disinhibition presenting as tics and psychiatric manifestations, such as attention deficit hyperactivity disorder and obsessive–compulsive disorder. The purpose of this study was to identify a possible dysfunction of the γ-aminobutyric acid-ergic system in Tourette patients, especially involving the basal ganglia-thalamo-cortical circuits and the cerebellum. We studied 11 patients with Tourette syndrome and 11 healthy controls. Positron emission tomography procedure: after injection of 20 mCi of [11C]flumazenil, dynamic emission images of the brain were acquired. Structural magnetic resonance imaging scans were obtained to provide an anatomical framework for the positron emission tomography data analysis. Images of binding potential were created using the two-step version of the simplified reference tissue model. The binding potential images then were spatially normalized, smoothed and compared between groups using statistical parametric mapping. We found decreased binding of GABAA receptors in Tourette patients bilaterally in the ventral striatum, globus pallidus, thalamus, amygdala and right insula. In addition, the GABAA receptor binding was increased in the bilateral substantia nigra, left periaqueductal grey, right posterior cingulate cortex and bilateral cerebellum. These results are consistent with the longstanding hypothesis that circuits involving the basal ganglia and thalamus are disinhibited in Tourette syndrome patients. In addition, the abnormalities in GABAA receptor binding in the insula and cerebellum appear particularly noteworthy based upon recent evidence implicating these structures in the generation of tics. PMID:22577221

Stuttering Treatment for a School-Age Child with Down Syndrome: A Descriptive Case Report

ERIC Educational Resources Information Center

Harasym, Jessica; Langevin, Marilyn

2012-01-01

Background: Little is known about optimal treatment approaches and stuttering treatment outcomes for children with Down syndrome. Aims and method: The purpose of this study was to investigate outcomes for a child with Down syndrome who received a combination of fluency shaping therapy and parent delivered contingencies for normally fluent speech,…

Partial trisomy 16p in an adolescent with autistic disorder and Tourette`s syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hebebrand, J.; Martin, M.; Remschmidt, H.

A partial trisomy 16p was identified in a 14-year-old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette`s syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especiallymore » for autistic disorder. 21 refs.« less

Discipline and the TS Child: A Guide for Parents and Teachers of Children with Tourette Syndrome.

ERIC Educational Resources Information Center

Fisher-Collins, Ramona

This parent and teacher guide considers discipline for children with Tourette Syndrome (TS) who have difficulty with behavioral compliance. Discipline is defined primarily as "training to act in accordance with rules," and is not punishment but involves teaching self-control and observance of societal expectations. Controversy and…

Fine-Motor Skill Deficits in Childhood Predict Adulthood Tic Severity and Global Psychosocial Functioning in Tourette's Syndrome

ERIC Educational Resources Information Center

Bloch, Michael H.; Sukhodolsky, Denis G.; Leckman, James F.; Schultz, Robert T.

2006-01-01

Background: Most children with Tourette's syndrome (TS) experience a significant decline in tic symptoms during adolescence. Currently no clinical measures have been identified that can predict whose tic symptoms will persist into adulthood. Patients with TS have deficits on neuropsychological tests involving fine-motor coordination and…

Improvement of both dystonia and tics with 60 Hz pallidal deep brain stimulation.

PubMed

Hwynn, Nelson; Tagliati, Michele; Alterman, Ron L; Limotai, Natlada; Zeilman, Pamela; Malaty, Irene A; Foote, Kelly D; Morishita, Takashi; Okun, Michael S

2012-09-01

Deep brain stimulation has been utilized in both dystonia and in medication refractory Tourette syndrome. We present an interesting case of a patient with a mixture of disabling dystonia and Tourette syndrome whose coexistent dystonia and tics were successfully treated with 60 Hz-stimulation of the globus pallidus region.

Atomoxetine Treatment of ADHD in Children with Comorbid Tourette Syndrome

ERIC Educational Resources Information Center

Spencer, Thomas J.; Sallee, F. Randy; Gilbert, Donald L.; Dunn, David W.; McCracken, James T.; Coffey, Barbara J.; Budman, Cathy L.; Ricardi, Randall K.; Leonard, Henrietta L.; Allen, Albert J.; Milton, Denai R.; Feldman, Peter D.; Kelsey, Douglas K.; Geller, Daniel A.; Linder, Steven L.; Lewis, Donald W.; Winner, Paul K.; Kurlan, Roger M.; Mintz, Mark

2008-01-01

Objective: This study examines changes in severity of tics and ADHD during atomoxetine treatment in ADHD patients with Tourette syndrome (TS). Method: Subjects (7-17 years old) with ADHD ("Diagnostic and Statistical Manual of Mental Disorders, DSM-IV") and TS were randomly assigned to double-blind treatment with placebo (n = 56) or atomoxetine…

Neuropsychological Functioning in Children with Tourette Syndrome with and without Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Sukhodolsky, Denis G.; Landeros-Weisenberger, Angeli; Scahill, Lawrence; Leckman, James F.; Schultz, Robert T.

2010-01-01

Objective: Neuropsychological functioning in children with Tourette syndrome (TS) has been characterized by subtle deficits in response inhibition, visual-motor integration, and fine-motor coordination. The association of these deficits with the tics of the TS versus co-occurring attention-deficit/hyperactivity disorder (ADHD) has not been well…

Gilles de la Tourette's Syndrome in Childhood: A Guide for School Professionals.

ERIC Educational Resources Information Center

Walter, Abbe L.; Carter, Alice S.

1997-01-01

Gilles de la Tourette's Syndrome (GTS) is considered a neuropsychiatric condition characterized by multiple motor and vocal tics. With some cases, a variety of neurocognitive, social, and emotional difficulties are present. Describes core features of GTS and highlights how symptoms and their features may interfere with school functioning. School…

Teaching Children with Tourette Syndrome. ERIC Digest E570.

ERIC Educational Resources Information Center

Knoblauch, Bernadette

This digest provides basic information on Tourette Syndrome (TS) as well as guidelines for appropriate classroom accommodations. It reports that about 100,000 Americans have diagnosed TS with symptoms including multiple motor and vocal tics; frequent (daily) occurrence of bouts of tics; periodic changes in the number, frequency, and severity of…

Managing Diversity: Reflections of Tourette Syndrome Sufferers.

ERIC Educational Resources Information Center

Wilson, Jeni; Shrimpton, Bradley

This paper discusses a study that investigated the management of Tourette Syndrome (TS), particularly how self-reflection and instruction affects the frequency of TS behaviors. The study included 3 girls and 24 boys (ages 7-17) with TS from Victoria and New South Wales, Australia. When students were asked to indicate their general self-image and…

Tourette Syndrome and the School Nurse. Revised.

ERIC Educational Resources Information Center

Ort, Sharon I.; And Others

Information on Tourette Syndrome (TS), as well as transient and chronic tic disorders, is provided in this pamphlet for the school nurse, who can support and educate the child, family, and other school personnel. Information is included on genetic factors and behaviors that may be connected to TS: obsessive-compulsive symptoms, hyperactivity,…

Prevalence of Tourette Syndrome and Chronic Tics in the Population-Based Avon Longitudinal Study of Parents and Children Cohort

ERIC Educational Resources Information Center

Scharf, Jeremiah M.; Miller, Laura L.; Mathews, Carol A.; Ben-Shlomo, Yoav

2012-01-01

Objective: Recent epidemiologic studies have demonstrated that Tourette syndrome (TS) and chronic tic disorder (CT) are more common than previously recognized. However, few population-based studies have examined the prevalence of co-occurring neuropsychiatric conditions such as obsessive-compulsive disorder (OCD) and…

Tourette Syndrome: Classroom Implications

ERIC Educational Resources Information Center

Chaturvedi, Amrita; Gartin, Barbara C.; Murdick, Nikki L.

2011-01-01

Tourette Syndrome (TS) is a neurobiological disorder characterized by various involuntary motor movements and vocal tics. Symptoms of TS emerge between the ages of 3 to 8 years old, are most severe when an individual reaches puberty, and decrease by the time a person is 20 years old. Additionally, persons with TS may have secondary disabilities of…

Control Networks in Paediatric Tourette Syndrome Show Immature and Anomalous Patterns of Functional Connectivity

ERIC Educational Resources Information Center

Church, Jessica A.; Fair, Damien A.; Dosenbach, Nico U. F.; Cohen, Alexander L.; Miezin, Francis M.; Petersen, Steven E.; Schlaggar, Bradley L.

2009-01-01

Tourette syndrome (TS) is a developmental disorder characterized by unwanted, repetitive behaviours that manifest as stereotyped movements and vocalizations called "tics". Operating under the hypothesis that the brain's control systems may be impaired in TS, we measured resting-state functional connectivity MRI (rs-fcMRI) between 39 previously…

Annotation: Tourette Syndrome--A Relentless Drumbeat--Driven by Misguided Brain Oscillations

ERIC Educational Resources Information Center

Leckman, James F.; Vaccarino, Flora M.; Kalanithi, Paul S. A.; Rothenberger, Aribert

2006-01-01

Objective: This annotation reviews recent evidence that points to the likely role of aberrant neural oscillations in the pathogenesis of Tourette syndrome (TS). Methods: The available anatomic and electrophysiological findings in TS are reviewed in the context of an emerging picture of the crucial role that neural oscillations play in maintaining…

Nonpharmacological treatment of tics in Tourette syndrome adding videotape training to self-hypnosis.

PubMed

Lazarus, Jeffrey E; Klein, Susan K

2010-01-01

This case series examines the practicality of using a standardized method of training children in self-hypnosis (SH) methods to explore its efficiency and short-term efficacy in treating tics in patients with Tourette syndrome. The files of 37 children and adolescents with Tourette syndrome referred for SH training were reviewed, yielding 33 patients for analysis. As part of a protocol for SH training, all viewed a videotape series of a boy undergoing SH training for tic control. Improvement in tic control was abstracted from subjective patient report. Seventy-nine percent of the patients trained in this technique experienced short-term clinical response, defined as control over the average 6-week follow-up period. Of the responders, 46% achieved tic control with SH after only 2 sessions and 96% after 3 visits. One patient required 4 visits. Instruction in SH, aided by the use of videotape training, augments a protocol and probably shortens the time of training in this technique. If SH is made more accessible in this way, it will be a valuable addition to multi-disciplinary management of tic disorders in Tourette syndrome.

The effects of awareness training on tics in a young boy with Tourette syndrome, Asperger syndrome, and attention deficit hyperactivity disorder.

PubMed

Wiskow, Katie M; Klatt, Kevin P

2013-01-01

Previous research has shown habit reversal training (HRT) to be effective in reducing tics. In some studies, tics have been reduced by implementing only a few components of HRT. The current study investigated the first step, awareness training, for treating tics in a young boy with Asperger syndrome, Tourette syndrome, and attention deficit hyperactivity disorder. The results showed a reduction in all tics. © Society for the Experimental Analysis of Behavior.

Reinforcement learning and Tourette syndrome.

PubMed

Palminteri, Stefano; Pessiglione, Mathias

2013-01-01

In this chapter, we report the first experimental explorations of reinforcement learning in Tourette syndrome, realized by our team in the last few years. This report will be preceded by an introduction aimed to provide the reader with the state of the art of the knowledge concerning the neural bases of reinforcement learning at the moment of these studies and the scientific rationale beyond them. In short, reinforcement learning is learning by trial and error to maximize rewards and minimize punishments. This decision-making and learning process implicates the dopaminergic system projecting to the frontal cortex-basal ganglia circuits. A large body of evidence suggests that the dysfunction of the same neural systems is implicated in the pathophysiology of Tourette syndrome. Our results show that Tourette condition, as well as the most common pharmacological treatments (dopamine antagonists), affects reinforcement learning performance in these patients. Specifically, the results suggest a deficit in negative reinforcement learning, possibly underpinned by a functional hyperdopaminergia, which could explain the persistence of tics, despite their evident inadaptive (negative) value. This idea, together with the implications of these results in Tourette therapy and the future perspectives, is discussed in Section 4 of this chapter. © 2013 Elsevier Inc. All rights reserved.

The portrayal of Tourette Syndrome in film and television.

PubMed

Calder-Sprackman, Samantha; Sutherland, Stephanie; Doja, Asif

2014-03-01

To determine the representation of Tourette Syndrome (TS) in fictional movies and television programs by investigating recurrent themes and depictions. Television and film can be a source of information and misinformation about medical disorders. Tourette Syndrome has received attention in the popular media, but no studies have been done on the accuracy of the depiction of the disorder. International internet movie databases were searched using the terms "Tourette's", "Tourette's Syndrome", and "tics" to generate all movies, shorts, and television programs featuring a character or scene with TS or a person imitating TS. Using a grounded theory approach, we identified the types of characters, tics, and co-morbidities depicted as well as the overall representation of TS. Thirty-seven television programs and films were reviewed dating from 1976 to 2010. Fictional movies and television shows gave overall misrepresentations of TS. Coprolalia was overrepresented as a tic manifestation, characters were depicted having autism spectrum disorder symptoms rather than TS, and physicians were portrayed as unsympathetic and only focusing on medical therapies. School and family relationships were frequently depicted as being negatively impacted by TS, leading to poor quality of life. Film and television are easily accessible resources for patients and the public that may influence their beliefs about TS. Physicians should be aware that TS is often inaccurately represented in television programs and film and acknowledge misrepresentations in order to counsel patients accordingly.

A School-Based Application of Modified Habit Reversal for Tourette Syndrome via a Translator: A Case Study

ERIC Educational Resources Information Center

Gilman, Rich; Connor, Nancy; Haney, Michelle

2005-01-01

A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline…

Neuropsychological Test Performance Before and After Symptom Removal in a Child With Guilles de la Tourette Syndrome

ERIC Educational Resources Information Center

Sand, Patricia

1972-01-01

The Guilles de la Tourette Syndrome, a relatively rare disorder that usually begins in childhood, is characterized by (1) body tics that progress in severity and involvement of face, neck, shoulder, and trunk musculature; (2) repetitive barking or clucking noises; (3) coprolalia, or tic-like repetitive uttering of obscenities. (Author)

Reduced White Matter Connectivity in the Corpus Callosum of Children with Tourette Syndrome

ERIC Educational Resources Information Center

Plessen, Kerstin J.; Gruner, Renate; Lundervold, Arvid; Hirsch, Jochen G.; Xu, Dongrong; Bansal, Ravi; Hammar, Asa; Lundervold, Astri J.; Wentzel-Larsen, Tore; Lie, Stein Atle; Gass, Achim; Peterson, Bradley S.; Hugdahl, Kenneth

2006-01-01

Background: Brain imaging studies have revealed anatomical anomalies in the brains of individuals with Tourette syndrome (TS). Prefrontal regions have been found to be larger and the corpus callosum (CC) area smaller in children and young adults with TS compared with healthy control subjects, and these anatomical features have been understood to…

Prevalence of Diagnosed Tourette Syndrome in Persons Aged 6-17 Years--United States, 2007

ERIC Educational Resources Information Center

Centers for Disease Control and Prevention, 2009

2009-01-01

Tourette syndrome (TS) is an inheritable, childhood-onset neurologic disorder marked by persistent multiple motor tics and at least one vocal tic. Tics are involuntary, repetitive, stereotypic movements or vocalizations that are usually sudden and rapid and often can be suppressed for short periods. The prevalence of TS is uncertain; the broad…

Psychosocial Stress Predicts Future Symptom Severities in Children and Adolescents with Tourette Syndrome and/or Obsessive-Compulsive Disorder

ERIC Educational Resources Information Center

Lin, Haiqun; Katsovich, Liliya; Ghebremichael, Musie; Findley, Diane B.; Grantz, Heidi; Lombroso, Paul J.; King, Robert A.; Zhang, Heping; Leckman, James F.

2007-01-01

Background: The goals of this prospective longitudinal study were to monitor levels of psychosocial stress in children and adolescents with Tourette syndrome (TS) and/or obsessive-compulsive disorder (OCD) compared to healthy control subjects and to examine the relationship between measures of psychosocial stress and fluctuations in tic,…

Habituation of Premonitory Sensations during Exposure and Response Prevention Treatment in Tourette's Syndrome

ERIC Educational Resources Information Center

Verdellen, Cara W. J.; Hoogduin, Cees A. L.; Kato, Bernet S.; Keijsers, Ger P. J.; Cath, Danielle C.; Hoijtink, Herbert B.

2008-01-01

Exposure to premonitory sensations and response prevention of tics (ER) has been shown to be a promising new treatment for Tourette's syndrome (TS). The present study tested the hypothesis that habituation to unpleasant premonitory sensations associated with the tic is an underlying mechanism of change in ER. Patients rated the severity of…

Increased Putamen and Callosal Motor Subregion in Treatment-Naive Boys with Tourette Syndrome Indicates Changes in the Bihemispheric Motor Network

ERIC Educational Resources Information Center

Roessner, Veit; Overlack, Sebastian; Schmidt-Samoa, Carsten; Baudewig, Jurgen; Dechent, Peter; Rothenberger, Aribert; Helms, Gunther

2011-01-01

Background: Despite an increasing number of studies, findings of structural brain alterations in patients with Tourette syndrome are still inconsistent. Several confounders (comorbid conditions, medication, gender, age, IQ) might explain these discrepancies. In the present study, these confounders were excluded to identify differences in basal…

Structural Changes in the Somatosensory System Correlate with Tic Severity in Gilles de la Tourette Syndrome

ERIC Educational Resources Information Center

Thomalla, Gotz; Siebner, Hartwig R.; Jonas, Melanie; Baumer, Tobias; Biermann-Ruben, Katja; Hummel, Friedhelm; Gerloff, Christian; Muller-Vahl, Kirsten; Schnitzler, Alfons; Orth, Michael; Munchau, Alexander

2009-01-01

Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. Previous structural MRI studies have identified regional abnormalities in grey matter, especially in the basal ganglia. These findings are consistent with the assumption of alterations in cortico-striato-thalamo-cortical circuits and…

Are Amygdalar Volume Alterations in Children with Tourette Syndrome Due to ADHD Comorbidity?

ERIC Educational Resources Information Center

Ludolph, Andrea G.; Pinkhardt, Elmar H.; van Elst, Ludger Tebartz; Libal, Gerhard; Ludolph, Albert C.; Fegert, Jorg M.; Kassubek, Jan

2008-01-01

Recent studies have shown that changes in the basal ganglia circuitry and limbic loops may play an important role both in Tourette syndrome (TS) and attention-deficit-hyperactivity disorder (ADHD). This study aimed to investigate in vivo possible morphological alterations of the amygdala as a key component of the limbic system. Amygdalar and total…

Tourette Syndrome

PubMed Central

Murray, T. J.

1982-01-01

Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

An idiot savant calendrical calculator with Gilles de la Tourette syndrome: implications for an understanding of the savant syndrome.

PubMed

Moriarty, J; Ring, H A; Robertson, M M

1993-11-01

We describe the existence of the savant syndrome in association with Gilles de la Tourette's Syndrome (GTS). The presentation of savant abilities is typical of that previously described. Similarities between autism, the disorder most characteristically associated with savants, and GTS in terms of obsessionality are noted. Previously reported psychological studies of autistic savants are briefly reviewed and, together with evidence from neuroimaging in GTS, obsessive compulsive disorder (OCD), and autism, used to support a model of the underpinnings of savant skills.

Tourette syndrome and chronic tic disorder are associated with lower socio-economic status: findings from the Avon Longitudinal Study of Parents and Children cohort.

PubMed

Miller, Laura L; Scharf, Jeremiah M; Mathews, Carol A; Ben-Shlomo, Yoav

2014-02-01

Only a few studies have examined the relationship between Tourette syndrome or chronic tic disorder and socio-economic status (SES). Existing studies are primarily cross-sectional, arise from specialty clinics, and use single measures of SES. In this study we examine this relationship in a longitudinal, population-based sample. Data are from 7152 children born during 1991 and 1992 in the county of Avon, UK, from the Avon Longitudinal Study of Parents and Children, who were followed up to age 13. After exclusions for intellectual disability* and autism, 6768 participants (3351 males [49.5%]) and 3417 females [50.5%]) remained. Parental SES was assessed using multiple measures during pregnancy and at 33 months of age. Presence of Tourette syndrome or chronic tics was determined from repeated maternal questionnaires up to when the child was 13 years of age. Multiple SES measures were associated with an approximately twofold increased risk of Tourette syndrome and chronic tics. A postnatal composite factor score (lowest vs highest tertile odds ratio 2.09, 95% confidence interval 1.38-3.47) provided the best fit to the data. As is seen in several childhood conditions, such as cerebral palsy and autism, lower SES is a risk factor for Tourette syndrome/chronic tics. Potential explanations include differential exposure to environmental risk factors or parental psychopathology as a measure of an increased genetic risk leading to decreased parental SES. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

Tourette syndrome and chronic tic disorder are associated with lower socio-economic status: findings from the Avon Longitudinal Study of Parents and Children cohort

PubMed Central

Miller, Laura L; Scharf, Jeremiah M; Mathews, Carol A; Ben-Shlomo, Yoav

2014-01-01

Aim Only a few studies have examined the relationship between Tourette syndrome or chronic tic disorder and socio-economic status (SES). Existing studies are primarily cross-sectional, arise from specialty clinics, and use single measures of SES. In this study we examine this relationship in a longitudinal, population-based sample. Method Data are from 7152 children born during 1991 and 1992 in the county of Avon, UK, from the Avon Longitudinal Study of Parents and Children, who were followed up to age 13. After exclusions for intellectual disability* and autism, 6768 participants (3351 males [49.5%]) and 3417 females [50.5%]) remained. Parental SES was assessed using multiple measures during pregnancy and at 33 months of age. Presence of Tourette syndrome or chronic tics was determined from repeated maternal questionnaires up to when the child was 13 years of age. Results Multiple SES measures were associated with an approximately twofold increased risk of Tourette syndrome and chronic tics. A postnatal composite factor score (lowest vs highest tertile odds ratio 2.09, 95% confidence interval 1.38–3.47) provided the best fit to the data. Interpretations As is seen in several childhood conditions, such as cerebral palsy and autism, lower SES is a risk factor for Tourette syndrome/chronic tics. Potential explanations include differential exposure to environmental risk factors or parental psychopathology as a measure of an increased genetic risk leading to decreased parental SES. PMID:24138188

Design of a Multisite Study Assessing the Impact of Tic Disorders on Individuals, Families, and Communities.

PubMed

Augustine, E F; Adams, H R; Bitsko, R H; van Wijngaarden, E; Claussen, A H; Thatcher, A; Hanks, C E; Lewin, A B; O'Connor, T G; Vierhile, A; Danielson, M L; Kurlan, R; Murphy, T K; Mink, J W

2017-03-01

Tic disorders, including Tourette syndrome, are complex, multisymptom diseases, yet the impact of these disorders on affected children, families, and communities is not well understood. To improve the understanding of the impacts of Tourette syndrome, two research groups conducted independent cross-sectional studies using qualitative and quantitative measures. They focused on similar themes, but distinct scientific objectives, and the sites collaborated to align methods of independent research proposals with the aim of increasing the analyzable sample size. Site 1 (University of Rochester) was a Pediatric Neurology referral center. Site 2 (University of South Florida) was a Child Psychiatry referral center. A total of 205 children with tic disorders were enrolled from both studies. The University of Rochester also enrolled 100 control children in order to clearly isolate impacts of Tourette syndrome distinct from those occurring in the general population. The majority of children with tic disorders (n = 191, 93.1%) had Tourette syndrome, the primary population targeted for these studies. Children with Tourette syndrome were similar across sites in terms of tic severity and the occurrence of comorbid conditions. The occurrence of psychiatric comorbidities in the control group was comparable with that in the general pediatric population of the United States, making this a well-justified comparison group. Through collaboration, two sites conducting independent research developed convergent research methods to enable pooling of data, and by extension increased power, for future analyses. This method of collaboration is a novel model for future epidemiological research of tic disorders. Copyright © 2016 Elsevier Inc. All rights reserved.

Temporal relationship between premonitory urges and tics in Gilles de la Tourette syndrome.

PubMed

Brandt, Valerie C; Beck, Christian; Sajin, Valeria; Baaske, Magdalena K; Bäumer, Tobias; Beste, Christian; Anders, Silke; Münchau, Alexander

2016-04-01

Premonitory urges are a cardinal feature in Tourette syndrome and are commonly viewed as the driving force of tics, building up before and subsiding after the execution of tics. Although the urge-tic interplay is one of the most preeminent features in Tourette syndrome, the temporal relationship between tics and urges has never been examined experimentally, mainly due to the lack of an appropriate assessment tool. We investigated the temporal relationship between urge intensity and tics in 17 Tourette patients and between urge intensity and eye blinks in 16 healthy controls in a free ticcing/blinking condition and a tic/blink suppression condition. For this purpose, an urge assessment tool was developed that allows real-time monitoring and quantification of urge intensity. Compared to free ticcing/blinking, urge intensity was higher during the suppression condition in both Tourette patients and healthy controls, while tics and blinks occurred less frequently. The data show that urge intensity increases prior to tics and decreases after tics in a time window of approximately ±10 sec. Tic suppression had a significant effect on the shape of the urge distribution around tics and led to a decrease in the size of the correlation between urge intensity and tics, indicating that tic suppression led to a de-coupling of tics and urges. In healthy controls, urges to blink were highly associated with eye blink execution, albeit in a narrower time frame (∼±5 sec). Blink suppression had a similar effect on the urge distribution associated with eye blinks as tic suppression had on the urge to tic in Tourette patients. These results corroborate the negative reinforcement model, which proposes that tics are associated with a relief in urges, thereby perpetuating ticcing behaviour. This study also documents similarities and differences between urges to act in healthy controls and urges to tic in Tourette syndrome. Copyright © 2016 Elsevier Ltd. All rights reserved.

The Genetics of Obsessive-Compulsive Disorder and Tourette Syndrome: An Epidemiological and Pathway-Based Approach for Gene Discovery

ERIC Educational Resources Information Center

Grados, Marco A.

2010-01-01

Objective: To provide a contemporary perspective on genetic discovery methods applied to obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). Method: A review of research trends in genetics research in OCD and TS is conducted, with emphasis on novel approaches. Results: Genome-wide association studies (GWAS) are now in progress in OCD…

Finger Tapping-Related Activation Differences in Treatment-Naive Pediatric Tourette Syndrome: A Comparison of the Preferred and Nonpreferred Hand

ERIC Educational Resources Information Center

Roessner, Veit; Wittfoth, Matthias; August, Julia M.; Rothenberger, Aribert; Baudewig, Jurgen; Dechent, Peter

2013-01-01

Background: Disturbances of motor circuitry are commonly encountered in Tourette syndrome (TS). The aim of this study was to investigate simple motor performance differences between boys with TS and healthy controls. Methods: We attempted to provide insight into motor network alterations by studying a group of treatment-naive patients suffering…

The Impact of Tourette's Syndrome in the School and the Family: Perspectives from Three Stakeholder Groups

ERIC Educational Resources Information Center

Rivera-Navarro, Jesús; Cubo, Esther; Almazán, Javier

2014-01-01

This article analyzes the perceptions of Spanish health professionals, children with Tourette's Syndrome (TS) and their parents about social, school and family problems related to the disorder. A qualitative research methodology was used involving Focus Groups (FGs) made up of children with TS (× 2 FGs), parents/caregivers of persons with TS (× 2…

Parental Age and Assisted Reproductive Technology in Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, and Tourette Syndrome in a Japanese Population

ERIC Educational Resources Information Center

Shimada, Takafumi; Kitamoto, Atsushi; Todokoro, Ayako; Ishii-Takahashi, Ayaka; Kuwabara, Hitoshi; Kim, Soo-Yung; Watanabe, Kei-ichiro; Minowa, Iwao; Someya, Toshikazu; Ohtsu, Hiroshi; Osuga, Yutaka; Kano, Yukiko; Kasai, Kiyoto; Kato, Nobumasa; Sasaki, Tsukasa

2012-01-01

We investigated whether advanced parental age and assisted reproductive technology (ART) are risk factors in autism spectrum disorders (ASDs), attention deficit hyperactivity disorder (ADHD), and Tourette syndrome (TS). Clinical charts of Japanese outpatients with ASD (n = 552), ADHD (n = 87), and TS (n = 123) were reviewed. Parental age of…

Familiality of Tourette Syndrome, Obsessive-Compulsive Disorder, and Attention-Deficit/Hyperactivity Disorder: Heritability Analysis in a Large Sib-Pair Sample

ERIC Educational Resources Information Center

Mathews, Carol A.; Grados, Marco A.

2011-01-01

Objective: Tourette syndrome (TS) is a neuropsychiatric disorder with a genetic component that is highly comorbid with obsessive-compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD). However, the genetic relations between these disorders have not been clearly elucidated. This study examined the familial relations among TS,…

Deanol in Gilles de la Tourette Syndrome: a preliminary investigation.

PubMed

Pinta, E R

1977-03-01

On the basis of its pharmacologic action Deanol (dimethyl aminoethanol) was hypothesized to be of benefit in the Gilles de la Tourette Syndrome. In one case report the addition of Deanol to perphenazine did not result in an improvement of uncontrollable movements or involuntary speech utterances. Gilles de la Tourette Syndrome is a condition combining organic and psychogenic features existing in the interface between two etiologies. Classically the disease begins in childhood and is characterized by the appearance of sudden involuntary movements, involuntary speech utterances frequently consisting of curse words (coprolalia), and imitative phenomena such as echolalia and echopraxia. Neurotic symptomatology such as anxiety and obsessive thinking have also been reported. This condition is regarded neuropharmacologically as a dopaminergic state that responds to drugs with antidopaminergic activity e.g. the phenothiazines and butyrophenones. Deanol (dimethyl aminoethanol) is a putative cholinergic agonist and has reported effectiveness in conditions where there is a predominance of dopaminergic versus cholinergic activity, e.g. levodopa-induced dyskinesias, neuroleptic induced tardive dyskinesia, and Huntington's chorea. Because of its effectiveness in dopaminergic states it was hypothesized that Deanol could also be of benefit in the Gilles de la Tourette Syndrome.

Tics and Tourette: a clinical, pathophysiological and etiological review.

PubMed

Dale, Russell C

2017-12-01

Describe developments in the etiological understanding of Tourette syndrome. Tourette syndrome is a complex heterogenous clinical syndrome, which is not a unitary entity. Pathophysiological models describe gamma-aminobutyric acid-ergic-associated disinhibition of cortico-basal ganglia motor, sensory and limbic loops. MRI studies support basal ganglia volume loss, with additional white matter and cerebellar changes. Tourette syndrome cause likely involves multiple vulnerability genes and environmental factors. Only recently have some vulnerability gene findings been replicated, including histidine decarboxylase and neurexin 1, yet these rare variants only explain a small proportion of patients. Planned large genetic studies will improve genetic understanding. The role of inflammation as a contributor to disease expression is now supported by large epidemiological studies showing an association with maternal autoimmunity and childhood infection. Investigation of blood cytokines, blood mRNA and brain mRNA expression support the role of a persistent immune activation, and there are similarities with the immune literature of autistic spectrum disorder. Current treatment is symptomatic, although there is a better appreciation of factors that influence treatment response. At present, therapeutics is focused on symptom-based treatments, yet with improved etiological understanding, we will move toward disease-modifying therapies in the future.

Health-related quality of life in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood.

PubMed

Silvestri, Paola R; Chiarotti, Flavia; Baglioni, Valentina; Neri, Valeria; Cardona, Francesco; Cavanna, Andrea E

2016-11-01

Gilles de la Tourette syndrome (GTS) is a neurodevelopmental condition characterised by tics and co-morbid behavioural problems, affecting predominantly male patients. Tic severity typically fluctuates over time, with a consistent pattern showing improvement after adolescence in a considerable proportion of patients. Both tics and behavioural co-morbidities have been shown to have the potential to affect patients' health-related quality of life (HR-QoL) in children and adults with persisting symptoms. In this study, we present the results of the first investigation of HR-QoL in patients with Gilles de la Tourette syndrome at the transition between adolescence and adulthood using a disease-specific HR-QoL measure, the Gilles de la Tourette Syndrome-Quality of Life-Children and Adolescents scale. Our results showed that patients with GTS and more severe co-morbid anxiety symptoms reported lower HR-QoL across all domains, highlighting the impact of anxiety on patient's well-being at a critical stage of development. Routine screening for anxiety symptoms is recommended in all patients with GTS seen at transition clinics from paediatric to adult care, to implement effective behavioural and pharmacological interventions as appropriate.

Identification of Pyruvate Kinase as an Antigen Associated with Tourette Syndrome

PubMed Central

Kansy, Janice W.; Katsovich, Liliya; McIver, Kevin S.; Pick, Jennifer; Zabriskie, John B.; Lombroso, Paul J.; Leckman, James F.; Bibb, James A.

2007-01-01

Immune responses to β-hemolytic streptococcal infections are hypothesized to trigger tic disorders and early-onset obsessive-compulsive disorder (OCD) in some pediatric populations. Here we identify the M1 isoform of the glycolytic enzyme, pyruvate kinase (PK) as an autoimmune target in Tourette syndrome and associated disorders. Antibodies to PK reacted strongly with surface antigens of infectious strains of streptococcus, and antibodies to streptococcal M proteins reacted with PK. Moreover, immunoreactivity to PK in patients with exacerbated symptoms who had recently acquired a streptococcal infection was 7-fold higher compared to patients with exacerbated symptoms and no evidence of a streptococcal infection. These data suggest that PK can function as an autoimmune target and that this immunoreactivity may be associated with Tourette syndrome, OCD, and associated disorders. PMID:17011640

Botulinum toxin for motor and phonic tics in Tourette's syndrome.

PubMed

Pandey, Sanjay; Srivanitchapoom, Prachaya; Kirubakaran, Richard; Berman, Brian D

2018-01-05

Gilles de la Tourette syndrome, or Tourette's syndrome, is defined as the presence of both motor and vocal (phonic) tics for more than 12 months, that manifest before the age of 18 years, in the absence of secondary causes. Treatment of motor and phonic tics is difficult and challenging. To determine the safety and effectiveness of botulinum toxin in treating motor and phonic tics in people with Tourette's syndrome, and to analyse the effect of botulinum toxin on premonitory urge and sensory tics. We searched the Cochrane Movement Disorders Group Trials Register, CENTRAL, MEDLINE, and two trials registers to 25 October 2017. We reviewed reference lists of relevant articles for additional trials. We considered all randomised, controlled, double-blind studies comparing botulinum toxin to placebo or other medications for the treatment of motor and phonic tics in Tourette's syndrome for this review. We sought both parallel group and cross-over studies of children or adults, at any dose, and for any duration. We followed standard Cochrane methods to select studies, assess risk of bias, extract and analyse data. All authors independently abstracted data onto standardized forms; disagreements were resolved by mutual discussion. Only one randomised placebo-controlled, double-blind cross-over study met our selection criteria. In this study, 20 participants with motor tics were enrolled over a three-year recruitment period; 18 (14 of whom had a diagnosis of Tourette's syndrome) completed the study; in total, 21 focal motor tics were treated. Although we considered most bias domains to be at low risk of bias, the study recruited a small number of participants with relatively mild tics and provided limited data for our key outcomes. The effects of botulinum toxin injections on tic frequency, measured by videotape or rated subjectively, and on premonitory urge, are uncertain (very low-quality evidence). The quality of evidence for adverse events following botulinum toxin was very low. Nine people had muscle weakness following the injection, which could have led to unblinding of treatment group assignment. No data were available to evaluate whether botulinum injections led to immunoresistance to botulinum. We are uncertain about botulinum toxin effects in the treatment of focal motor and phonic tics in select cases, as we assessed the quality of the evidence as very low. Additional randomised controlled studies are needed to demonstrate the benefits and harms of botulinum toxin therapy for the treatment of motor and phonic tics in patients with Tourette's syndrome.

Controlled Evaluation of an Educational Intervention Used to Modify Peer Attitudes and Behavior toward Persons with Tourette's Syndrome

ERIC Educational Resources Information Center

Woods, Douglas; Marcks, Brook

2005-01-01

Individuals who exhibit motor and vocal tics are viewed as less socially acceptable than persons who do not exhibit tics. Efforts have been made to alter the negative perceptions through the use of education. However, the effectiveness of peer education and whether it need be Tourette syndrome (TS) specific remains unclear. One hundred and seventy…

What Do Those Who Know, Know? Investigating Providers' Knowledge about Tourette's Syndrome and Its Treatment

ERIC Educational Resources Information Center

Marcks, Brook A.; Woods, Douglas W.; Teng, Ellen J.; Twohig, Michael P.

2004-01-01

Physicians and possibly psychologists are likely to be at the center of clinical care for persons with Tourette's Syndrome (TS). To date, it is unclear (a) how much basic knowledge these health care providers possess about the disorder, (b) how much incorrect or untested information is believed about the disorder, (c) what the perceived role of a…

Tourette Syndrome: Overview and Classroom Interventions. A Complex Neurobehavioral Disorder Which May Involve Learning Problems, Attention Deficit Hyperactivity Disorder, Obsessive Compulsive Symptoms, and Stereotypical Behaviors.

ERIC Educational Resources Information Center

Fisher, Ramona A.; Collins, Edward C.

Tourette Syndrome is conceptualized as a neurobehavioral disorder, with behavioral aspects that are sometimes difficult for teachers to understand and deal with. The disorder has five layers of complexity: (1) observable multiple motor, vocal, and cognitive tics and sensory involvement; (2) Attention Deficit Hyperactivity Disorder; (3)…

A School-Based Intervention Designed To Reduce the Frequency of Tics in Children with Tourette's Syndrome.

ERIC Educational Resources Information Center

Clarke, Marlene A.; Bray, Melissa A.; Kehle, Thomas J.; Truscott, Stephen D.

2001-01-01

Examines the effects of a two-component treatment package composed of habit reversal and self-modeling to reduce the frequency of tics in 4 school-age students diagnosed with Tourette's Syndrome. Results reveal that 3 of the 4 students showed substantial decreases in their tics, which were maintained during a 5- to 10-week follow up. The fourth…

Comprehensive Behavioral Intervention for Tics in Children with Tourette Syndrome

ERIC Educational Resources Information Center

Woods, Douglas W.; Piacentini, John C.; Walkup, John T.

2010-01-01

Tourette syndrome (TS) is one of three separate tic disorders. By definition, children with TS must have at least two motor (movement) tics and one vocal (or sound tic) for at least a year. The other tic disorders are chronic tic disorder (motor or vocal tics, but not both for at least one year) and transient tic disorder (motor and/or vocal tics…

Do Individuals with Fragile X Syndrome Show Developmental Stuttering or Not? Comment on "Speech Fluency in Fragile X Syndrome" by Van Borsel, Dor and Rondal

ERIC Educational Resources Information Center

Howell, Peter

2008-01-01

Van Borsel, Dor, and Rondal (2007) examined the speech of seven boys and two young male adults with fragile X syndrome and considered whether their speech was comparable to that reported in the developmental stuttering literature. They listed five criteria which led them to conclude that the speech patterns of speakers with fragile X syndrome…

Tourette Syndrome and Stigma: A Place from Which Parents Advocate. Special Project in Sociology/Anthropology.

ERIC Educational Resources Information Center

Jeffery, Kelly

This paper presents a historical background and definition of Tourette Syndrome (TS), a review of the literature, and a view of the TS person as stigmatized in society. Social processes are examined through the eyes of the TS individual, and the impact of education on the TS person is examined. TS is viewed as the presence of motor or vocal tics,…

Mortality risk in a nationwide cohort of individuals with tic disorders and with tourette syndrome.

PubMed

Meier, Sandra M; Dalsgaard, Søren; Mortensen, Preben B; Leckman, James F; Plessen, Kerstin J

2017-04-01

Few studies have investigated mortality risk in individuals with tic disorders. We thus measured the risk of premature death in individuals with tic disorders and with Tourette syndrome in a prospective cohort study with 80 million person-years of follow-up. We estimated mortality rate ratios and adjusted for calendar year, age, sex, urbanicity, maternal and paternal age, and psychiatric disorders to compare individuals with and without tic disorders. The risk of premature death was higher among individuals with tic disorders (mortality rate ratio, 2.02; 95% CI, 1.49-2.66) and with Tourette syndrome (mortality rate ratio, 1.63; 95% CI, 1.11-2.28) compared with controls. After the exclusion of individuals with comorbid attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and substance abuse, tic disorder remained associated with increased mortality risk (mortality rate ratio, 2.30; 95% CI, 1.57-3.23), as did also Tourette Syndrome (mortality rate ratio, 1.81; 95% CI, 1.11-2.75). These results are of clinical significance for clinicians and advocacy organizations. Several factors may contribute to this increased risk of premature death, and more research mapping out these factors is needed. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

The Neural Circuits that Generate Tics in Gilles de la Tourette Syndrome

PubMed Central

Wang, Zhishun; Maia, Tiago V.; Marsh, Rachel; Colibazzi, Tiziano; Gerber, Andrew; Peterson, Bradley S.

2014-01-01

Objective To study neural activity and connectivity within cortico-striato-thalamo-cortical circuits and to reveal circuit-based neural mechanisms that govern tic generation in Tourette syndrome. Method We acquired fMRI data from 13 participants with Tourette syndrome and 21 controls during spontaneous or simulated tics. We used independent component analysis with hierarchical partner matching to isolate neural activity within functionally distinct regions of cortico-striato-thalamo-cortical circuits. We used Granger causality to investigate causal interactions among these regions. Results We found that the Tourette group exhibited stronger neural activity and interregional causality than controls throughout all portions of the motor pathway including sensorimotor cortex, putamen, pallidum, and substania nigra. Activity in these areas correlated positively with the severity of tic symptoms. Activity within the Tourette group was stronger during spontaneous tics than during voluntary tics in somatosensory and posterior parietal cortices, putamen, and amygdala/hippocampus complex, suggesting that activity in these regions may represent features of the premonitory urges that generate spontaneous tic behaviors. In contrast, activity was weaker in the Tourette group than in controls within portions of cortico-striato-thalamo-cortical circuits that exert top-down control over motor pathways (caudate and anterior cingulate cortex), and progressively less activity in these regions accompanied more severe tic symptoms, suggesting that faulty activity in these circuits may fail to control tic behaviors or the premonitory urges that generate them. Conclusions Our findings taken together suggest that tics are caused by the combined effects of excessive activity in motor pathways and reduced activation in control portions of cortico-striato-thalamo-cortical circuits. PMID:21955933

Mozart's movements and behaviour: a case of Tourette's syndrome?

PubMed

Ashoori, Aidin; Jankovic, Joseph

2007-11-01

In this review, we intend to explore the often asked question: "Did Mozart have Tourette's syndrome?" Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive-compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure.

Mozart's movements and behaviour: a case of Tourette's syndrome?

PubMed

Ashoori, A; Jankovic, J

2008-06-01

In this review, we intend to explore the often asked question: "Did Mozart have Tourette's syndrome?" Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive-compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure.

Tourette's syndrome is not associated with interleukin-10 receptor 1 variants on chromosome 11q23.3.

PubMed

Kindler, Jochen; Schosser, Alexandra; Stamenkovic, Mara; Schloegelhofer, Monika; Leisch, Friedrich; Hornik, Kurt; Aschauer, Harald; Gasche, Christoph

2008-01-15

Interleukin-10 receptor 1 (IL-10R1) single nucleotide polymorphisms, located on chromosome 11q23 - a strong candidate for linkage with Tourette's syndrome (TS) - have been investigated for association with TS. DNA of 77 patients with a DSM-IV (Diagnostic and Statistical Manual IV) diagnosis of TS and 250 healthy controls was genotyped. IL-10R1 was not associated with TS.

The relation between attention and tic generation in Tourette syndrome.

PubMed

Misirlisoy, Erman; Brandt, Valerie; Ganos, Christos; Tübing, Jennifer; Münchau, Alexander; Haggard, Patrick

2015-07-01

Many neuropsychiatric disorders involve abnormal attentional processing. Systematic investigations of how attention may affect tic frequency in Tourette syndrome are lacking. Patients performed rhythmic finger movements, approximately once every 2 s. Each movement triggered a unique visual color stimulus. Patients were asked to monitor and remember their finger actions, the external colors caused by their actions, or their tics. Sixteen adult Tourette syndrome patients performed each task twice: once while inhibiting tics, and once without inhibiting tics. During the "freely tic" condition, patients had significantly fewer tics when attending to finger movements, or to the ensuing colors, compared with when attending to their tics. Attention to fingers produced the fewest tics overall. During tic suppression, tic frequency was reduced to an equal level in all conditions. Focusing attention away from tics significantly reduces tic frequency. This attentional process may operate by regulating motor noise. (c) 2015 APA, all rights reserved).

The Relation Between Attention and Tic Generation in Tourette Syndrome

PubMed Central

2014-01-01

Objective: Many neuropsychiatric disorders involve abnormal attentional processing. Systematic investigations of how attention may affect tic frequency in Tourette syndrome are lacking. Method: Patients performed rhythmic finger movements, approximately once every 2 s. Each movement triggered a unique visual color stimulus. Patients were asked to monitor and remember their finger actions, the external colors caused by their actions, or their tics. Sixteen adult Tourette syndrome patients performed each task twice: once while inhibiting tics, and once without inhibiting tics. Results: During the “freely tic” condition, patients had significantly fewer tics when attending to finger movements, or to the ensuing colors, compared with when attending to their tics. Attention to fingers produced the fewest tics overall. During tic suppression, tic frequency was reduced to an equal level in all conditions. Conclusions: Focusing attention away from tics significantly reduces tic frequency. This attentional process may operate by regulating motor noise. PMID:25486384

Olanzapine treatment for tics in an adult woman with severe tourette syndrome.

PubMed

Hwang, Wen-Juh

2012-12-01

Olanzapine had been reported to be effective in the control of tics in a few adult female patients who had a short follow-up period. The author reports the successful outcome of long-term olanzapine treatment in an adult woman with severe Tourette syndrome. A 33-year-old woman who had severe motor and vocal tics (Modified Rush Videotape Rating Scale: 17/20) showed an excellent response to olanzapine 10 mg/day within 2 months. Her tic symptoms were well controlled with gradual reduction of her dose of olanzapine to 2.5 mg/day during the following 8 years. She was symptom-free without medications in the past 2 years. In addition, she had a normal menstrual cycle and became pregnant during the period of olanzapine treatment. Olanzapine may be the drug of first choice for treating severe Tourette syndrome in pubescent female adolescents and young women who wish to have children.

A Comprehensive Review of Tourette Syndrome and Complementary Alternative Medicine.

PubMed

Kumar, Ashutosh; Duda, L; Mainali, G; Asghar, S; Byler, D

2018-01-01

Tourette syndrome (TS) is a neuropsychiatric condition defined by both motor and phonic tics over a period of at least 1 year with the onset before 18 years of age. The purpose of this article is to review the use of complementary alternative medicine (CAM) in children and adults with Tourette syndrome with emphasis on recent research. Most patients do not tell their physician about the use of CAM unless if specifically asked. Of the studies reviewed, description of the treatment and the frequency of use were most often reported. Few studies examine the role or effectiveness of CAM in the treatment of TS specifically. Practitioners should be aware of current research regarding various CAM modalities used for TS patients, including efficacy, potential adverse effects, and interactions with medications. Robust data about the use of CAM, efficacy, and potential side effects is lacking and requires further research to clarify optimal use.

A Brazilian cohort of patients with Tourette's syndrome.

PubMed Central

Cardoso, F; Veado, C C; de Oliveira, J T

1996-01-01

The clinical features of 32 patients (24 males) with Tourette's syndrome in Brazil were studied. The mean age at onset was 7.1 years, tics being the first symptom in 71% and hyperactivity in 29%. Blinking, grimacing, and shoulder elevation were the most common motor tics and sniffing, throat clearing, and grunting noises, the most frequent vocal tics. Coprolalia was present in 28%, echolalia in 16%, palilalia in 9%, and copropraxia in 25% of patients. Attention deficit and hyperactivity disorder was diagnosed in 63%, and obsessive compulsive behaviour in 44% of patients. In 84% of patients there was a family history of tics whereas attention deficit and hyperactivity disorder and obsessive compulsive behaviour were respectively present in relatives of 19% and 53% of the patients studied. These data suggest that Tourette's syndrome in Brazil is not clinically different from other countries, supporting the notion that genetic factors play the most important part in its aetiology. PMID:8708658

[Tourette syndrome and reading disorder in a boy with left parietofrontal tract disruption].

PubMed

Martín Fernández-Mayoralas, D; Fernández-Jaén, A; Gómez Herrera, J J; Jiménez de la Peña, M

2014-01-01

We present the case of a nine-year-old boy with Tourette syndrome and reading disorder with a history of a severe infectious process in the late neonatal period. Brain MRI showed a left parietal malacotic cavity and diffusion tensor imaging and tractography showed a striking disruption of the white matter bundle that joins the left parietal region with the ipsilateral frontal region with involvement of the left superior longitudinal fasciculus and of the left arcuate fasciculus. Although Tourette syndrome and reading disorder are fundamentally hereditary neuropsychiatric disorders, they can also occur secondary to cerebral alterations like those existing in this boy. The introduction of modern neuroimaging techniques in patients with neuropsychiatric disorders (or the risk of developing them) can be very useful in the diagnosis and prognosis in the future. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

Tourette's: syndrome, disorder or spectrum? Classificatory challenges and an appraisal of the DSM criteria.

PubMed

Robertson, Mary May; Eapen, Valsamma

2014-10-01

The fifth version of the Diagnostic and statistical manual of mental disorders (DSM-5) was released in May 2013 after 14 years of development and almost two decades after the last edition DSM-IV was published in 1994. We review the DSM journey with regards to Tourette Syndrome from the original publication of DSM 1 in 1952 till date. In terms of changes in DSM 5, the major shift has come in the placement of Tourette Syndrome under the 'Neurodevelopmental Disorders' alongside other disorders with a developmental origin. This review provides an overview of the changes in DSM-5 highlighting key points for clinical practice and research along with a snap shot of the current use of DSM as a classificatory system in different parts of the world and suggestions for improving the subtyping and the diagnostic confidence. Copyright © 2014 Elsevier B.V. All rights reserved.

Tics and Tourette's: update on pathophysiology and tic control.

PubMed

Ganos, Christos

2016-08-01

To describe recent advances in the pathophysiology of tics and Tourette syndrome, and novel insights on tic control. The cortico-basal ganglia-thalamo-cortical loops are implicated in generation of tics. Disruption of GABAergic inhibition lies at the core of tic pathophysiology, but novel animal models also implicate cholinergic and histaminergic neurotransmission. Tourette syndrome patients have altered awareness of volition and enhanced formation of habits. Premonitory urges are not the driving force behind all tics. The intensity of premonitory urges depends on patients' capacity to perceive interoceptive signals. The insular cortex is a key structure in this process. The trait intensity of premonitory urges is not a prerequisite of voluntary tic inhibition, a distinct form of motor control. Voluntary tic inhibition is most efficient in the body parts that tic the least. The prefrontal cortex is associated with the capacity to inhibit tics. The management of tics includes behavioral, pharmacological and surgical interventions. Treatment recommendations differ based on patients' age. The study of Tourette syndrome pathophysiology involves different neural disciplines and provides novel, exciting insights of brain function in health and disease. These in turn provide the basis for innovative treatment approaches of tics and their associations.

Famous people with Gilles de la Tourette syndrome?

PubMed

Monaco, Francesco; Servo, Serena; Cavanna, Andrea Eugenio

2009-12-01

Virtually no neurologist nor psychiatrist today can be unaware of the diagnosis of Gilles de la Tourette syndrome (GTS). Although the eponymous description by Dr. Georges Gilles de la Tourette was published in 1885, familiarity with this syndrome has been achieved only recently. In this article, the two most renown accounts of exceptional individuals retrospectively diagnosed with GTS are critically analyzed: British lexicographer Samuel Johnson and Austrian musician Wolfgang Amadeus Mozart. In both cases, clinical descriptions have been retrieved from written documents predating Gilles de la Tourette's original publication. The case for Samuel Johnson having GTS is strong, mainly based on Boswell's extensive biographical account. Johnson was reported to have a great range of tics and compulsions, including involuntary utterances, repetitive ejaculations, and echo-phenomena. On the other hand, there is circumstantial evidence that Mozart may have had hyperactivity, restlessness, sudden impulses, odd motor behaviors, echo/palilalia, love of nonsense words, and scatology, the latter being documented in autograph letters ("coprographia"). However, the evidence supporting the core features of GTS, i.e., motor and vocal tics, is rather inconsistent. Thus, GTS seems to be an implausible diagnosis in Mozart's medical history and completely unrelated to his undisputed musical genius.

Tourette--and Teachers.

ERIC Educational Resources Information Center

Teitelbaum, Blanche R.

1979-01-01

Describes the Gilles de la Tourette Syndrome, a little-known disorder of the central nervous system whose symptoms include involuntary movements, such as facial tics, and the production of involuntary sounds, such as grunts and obscenities. Suggests ways teachers can help a child afflicted with this disorder. (SJL)

Pathological glutamatergic neurotransmission in Gilles de la Tourette syndrome.

PubMed

Kanaan, Ahmad Seif; Gerasch, Sarah; García-García, Isabel; Lampe, Leonie; Pampel, André; Anwander, Alfred; Near, Jamie; Möller, Harald E; Müller-Vahl, Kirsten

2017-01-01

Gilles de la Tourette syndrome is a hereditary, neuropsychiatric movement disorder with reported abnormalities in the neurotransmission of dopamine and γ-aminobutyric acid (GABA). Spatially focalized alterations in excitatory, inhibitory and modulatory neurochemical ratios within specific functional subdivisions of the basal ganglia, may lead to the expression of diverse motor and non-motor features as manifested in Gilles de la Tourette syndrome. Current treatment strategies are often unsatisfactory thus provoking the need for further elucidation of the underlying pathophysiology. In view of (i) the close spatio-temporal synergy exhibited between excitatory, inhibitory and modulatory neurotransmitter systems; (ii) the crucial role played by glutamate (Glu) in tonic/phasic dopaminergic signalling; and (iii) the interdependent metabolic relationship exhibited between Glu and GABA via glutamine (Gln); we postulated that glutamatergic signalling is related to the pathophysiology of Gilles de la Tourette syndrome. As such, we examined the neurochemical profile of three cortico-striato-thalamo-cortical regions in 37 well-characterized, drug-free adult patients and 36 age/gender-matched healthy control subjects via magnetic resonance spectroscopy at 3 T. To interrogate the influence of treatment on metabolite concentrations, spectral data were acquired from 15 patients undergoing a 4-week treatment with aripiprazole. Test-retest reliability measurements in 23 controls indicated high repeatability of voxel localization and metabolite quantitation. We report significant reductions in striatal concentrations of Gln, Glu + Gln (Glx) and the Gln:Glu ratio, and thalamic concentrations of Glx in Gilles de la Tourette syndrome in comparison to controls. ON-treatment patients exhibited no significant metabolite differences when compared to controls but significant increases in striatal Glu and Glx, and trends for increases in striatal Gln and thalamic Glx compared to baseline measurements. Multiple regression analysis revealed a significant negative correlation between (i) striatal Gln and actual tic severity; and (ii) thalamic Glu and premonitory urges. Our results indicate that patients with Gilles de la Tourette syndrome exhibit an abnormality in the flux of metabolites in the GABA-Glu-Gln cycle, thus implying perturbations in astrocytic-neuronal coupling systems that maintain the subtle balance between excitatory and inhibitory neurotransmission within subcortical nuclei. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Nicotine and cannabinoids as adjuncts to neuroleptics in the treatment of Tourette syndrome and other motor disorders.

PubMed

Moss, D E; Manderscheid, P Z; Montgomery, S P; Norman, A B; Sanberg, P R

1989-01-01

Animal studies suggest nicotine and cannabinoids may significantly enhance the therapeutic value of neuroleptics in motor disorders. This was recently demonstrated in humans by the finding that chewing nicotine gum produced striking relief from tics and other symptoms of Tourette syndrome not controlled by neuroleptic treatment alone. It appears that the use of nicotine or cannabinoids may greatly improve the clinical response to neuroleptics in motor disorders.

Amygdala hypersensitivity in response to emotional faces in Tourette's patients.

PubMed

Neuner, Irene; Kellermann, Thilo; Stöcker, Tony; Kircher, Tilo; Habel, Ute; Shah, Jon N; Schneider, Frank

2010-10-01

Tourette's syndrome is characterised by motor and vocal tics as well as a high level of impulsivity and emotional dysregulation. Neuroimaging studies point to structural changes of the basal ganglia, prefrontal cortex and parts of the limbic system. However, there is no link between behavioural symptoms and the structural changes in the amygdala. One aspect of daily social interaction is the perception of emotional facial expressions, closely linked to amgydala function. We therefore investigated via fMRI the implicit discrimination of six emotional facial expressions in 19 adult Tourette's patients. In comparison to healthy control group, Tourette's patients showed significantly higher amygdala activation, especially pronounced for fearful, angry and neutral expressions. The BOLD-activity of the left amygdala correlated negatively with the personality trait extraversion. We will discuss these findings as a result of either deficient frontal inhibition due to structural changes or a desynchronization in the interaction of the cortico-striato-thalamo-cortical network within structures of the limbic system. Our data show an altered pattern of implicit emotion discrimination and emphasize the need to consider motor and non-motor symptoms in Tourette's syndrome in the choice of both behavioural and pharmacological treatment.

Evaluation of a cognitive psychophysiological model for management of tic disorders: an open trial.

PubMed

O'Connor, Kieron; Lavoie, Marc; Blanchet, Pierre; St-Pierre-Delorme, Marie-Ève

2016-07-01

Tic disorders, in particular chronic tic disorder and Tourette syndrome, affect about 1% of the population. The current treatment of choice is pharmacological or behavioural, addressing tics or the premonitory urges preceding tic onset. The current study reports an open trial evaluating the effectiveness of a cognitive psychophysiological treatment addressing Tourette-specific sensorimotor activation processes rather than the tic. Forty-nine people with Tourette syndrome and 36 people with chronic tics completed 10 weeks of individual cognitive psychophysiological therapy. Outcome measures included two tic severity scales and psychosocial measures. Post-treatment both groups had significantly improved on the tic scales with strong effect sizes across tic locations and complex and simple tics, maintained at 6-month follow-up with further change in perfectionism and self-esteem. The cognitive psychophysiological approach targeting underlying sensorimotor processes rather than tics in Tourette's and chronic tic disorder reduced symptoms with a large effect size. © The Royal College of Psychiatrists 2016.

[Tics and Gilles de la Tourette syndrome].

PubMed

Tijero-Merino, B; Gómez-Esteban, J C; Zarranz, J J

2009-01-23

Tourette syndrome is a neurologic disorder characterized by involuntary vocal and motor tics. It affects around 1 to 2% of school-age children and is the most common movement disorder in paediatric age. Tics are involuntary or semivoluntary, sudden, brief, intermittent, repetitive movements (motor tics) or sounds (phonic tics). It is often associated with psychiatric comorbidities, mainly attention-deficit/hyperactivity disorder and obsessive-compulsive disorder. Given its diverse presentation, Tourette's syndrome can almost mimic many hyperkinetic disorders, making the diagnosis challenging at times. The etiology of this syndrome is thought to be related to basal ganglia dysfunction and many clues have been pursued, both genetic and environmental factors, but no compelling major contribution to the pathogenesis of the disease has yet emerged. Treatment can be behavioural, pharmacologic, or surgical, and is dictated by the most incapacitating symptoms. Alpha-2-adrenergic agonists are the first line of pharmacologic therapy, but dopamine-receptor-blocking drugs are required for multiple, complex tics. Dopamine-receptor-blocking drugs are associated with potential side effects. Appropriate diagnosis and treatment can substantially improve quality of life and psychosocial functioning in affected patients.

Mozart's movements and behaviour: a case of Tourette's syndrome?

PubMed Central

Ashoori, Aidin; Jankovic, Joseph

2007-01-01

In this review, we intend to explore the often asked question: “Did Mozart have Tourette's syndrome?” Although there are numerous reports attributing Mozart's peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette's syndrome, autistic disorder, Asperger's syndrome, attention deficit hyperactivity disorder, obsessive–compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart's behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure. PMID:17940168

Comparison of pausing behavior in children who stutter and children who have Asperger syndrome.

PubMed

Beltrame, Jessica Monique; Viera, Renata Alves Torello; Tamanaha, Ana Carina; Arcuri, Cláudia Fassin; Osborn, Ellen; Perissinoto, Jacy; Schiefer, Ana Maria

2011-12-01

The objective of this research was to compare the number and types of grammatical and non-grammatical silent pauses presented by stutterers and subjects with Asperger syndrome in their narratives. Ten children who stutter and four participants with Asperger syndrome (mean ages of both groups 10 years) were assessed at the Speech and Language Disorders Department of the Universidade Federal de São Paulo/Brasil. They narrated a story based on a pre-selected sequence of pictures. They were filmed and their productions were analyzed using version 5.0.47 of Praat (http://www.fon.hum.uva.nl/praat/download_win.html). Silent intervals in the speech that ranged from 0.25 to 4s were considered pauses. The pauses were classified as grammatical and non-grammatical, depending on the words that preceded and followed them. Both groups presented grammatical and non-grammatical pauses and the former predominated. The children with Asperger syndrome produced a greater number of pauses than the stutterers. The reader will be able to: (1) characterize the use of pauses in the oral narrative; (2) distinguish a grammatical pause from a non-grammatical pause regarding the use and function; (3) recognize the pattern of pause found in the two populations. Copyright © 2011 Elsevier Inc. All rights reserved.

The effect of Tourette syndrome on the education and social interactions of a school-age child.

PubMed

Ohm, Bonnie

2006-06-01

Tourette syndrome is a neurological condition characterized by involuntary vocal or motor tics. Symptoms begin occurring before the age of 18 and are more common in boys than girls. Tics can change in severity and character from hour to hour or in stressful situations. Uncontrolled tics can cause self-esteem concerns, family stress, and academic difficulty. Medication and school services were employed to help the student achieve the goal of feeling more comfortable with peers and in the classroom.

Health-related quality of life and psychosocial functioning in children with Tourette syndrome: parent-child agreement and comparison to healthy norms.

PubMed

Gutierrez-Colina, Ana M; Eaton, Cyd K; Lee, Jennifer L; LaMotte, Julia; Blount, Ronald L

2015-03-01

This study aimed to evaluate the degree of agreement between parent proxy- and child self-report on measures of child psychosocial functioning and health-related quality of life in children with Tourette syndrome. Participants included 28 children with Tourette syndrome and their parents. All participants provided ratings of children's level of quality of life and psychosocial functioning. Results revealed strong, positive relationships between child self- and parent proxy-reports on all quality of life and psychosocial functioning domains. Parents perceived significantly higher levels of depression compared to their children, whereas children reported significantly lower Physical quality of life compared to their parents. Results suggest that assessment of quality of life and psychosocial functioning should include multiple reporters whenever feasible. Caution should be used when exclusively relying on parent proxy-reports of quality of life and psychosocial functioning, as these reports may not accurately reflect children's difficulties or perceptions of their functioning. © The Author(s) 2014.

Tourette syndrome and other tic disorders in childhood, adolescence and adulthood.

PubMed

Ludolph, Andrea G; Roessner, Veit; Münchau, Alexander; Müller-Vahl, Kirsten

2012-11-01

Tourette syndrome is a combined motor and vocal tic disorder that begins in childhood and takes a chronic course. It arises in about 1% of all children, with highly varying severity. Transient and usually mild tics are seen in as many as 15% of all children in elementary school. The diagnosis is often delayed by several years. We selectively reviewed the pertinent literature, including the guidelines of the European Society for the Study of Tourette Syndrome for the diagnosis and treatment of tic disorders. Tic disorders usually take a benign course, with spontaneous improvement in adolescence in about 90% of patients. Psychoeducation is the basis of treatment in each case and almost always brings marked emotional relief. Specific treatment is needed only for more severe tics and those that cause evident psychosocial impairment. 80-90% of patients with Tourette syndrome have comorbidities (attention deficit-hyperactivity disorder, obsessive-compulsive disorder, depression, anxiety, emotional dysregulation, autoaggression), which often impair their quality of life more than the tics do and therefore become the main target of treatment. There is little evidence for the efficacy of treatment for tics. Small-scale controlled studies with a brief follow-up period have been carried out for some neuroleptic drugs. Behavior therapy should be tried before drug treatment. A further option for very severely affected adults is deep brain stimulation. Because of the low level of the available evidence, no definitive recommendations can be made for the treatment of tics.

A clinical study of Gilles de la Tourette syndrome in the United Kingdom.

PubMed Central

Lees, A J; Robertson, M; Trimble, M R; Murray, N M

1984-01-01

The clinical features of 53 British-born patients with Gilles de la Tourette syndrome are described. The mean age at onset of body tics was seven years and for vocalisations 11 years. Coprolalia was present in 39%, copropraxia in 21%, echolalia in 46% and echopraxia in 21%. Complicated antics and mannerisms were also common, often involving the compulsive touching of objects or self-injurious behaviour. Forty-six per cent of cases had a family history of tics in a single close relative and in two individuals a further member of the family had Gilles de la Tourette syndrome. Focal dystonia was present in four patients who had never received neuroleptics drugs and chorea was seen in two other untreated patients. In three patients acoustic startle consistently induced brief eye blink followed by a whole body jerk or jump. Rapid repetitive movements of the hands increased the frequency and severity of tics in 13 patients, but the performance of mental arithmetic under time pressure had a much more unpredictable effect. Electroencephalographic abnormalities occurred in eight (13%) but no definite CT brain scan abnormalities were detected. The incidence of left handedness did not differ from that in the general population and no evidence to suggest organic impairment was found on neuropsychological testing. This study provides no support for the notion that Gilles de la Tourette syndrome is a degenerative disorder of the central nervous system but provides some evidence for heterogeneity. PMID:6582230

Using a wearable near-infrared spectroscopy device in children with Tourette syndrome

NASA Astrophysics Data System (ADS)

Cheong, Pou-Leng; Li, Ting-Yi; Sun, Chia-Wei

2018-02-01

1. Background Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. Near-Infrared Spectroscopy (NIRS) can assess brain function non-invasively by detecting changes in blood hemoglobin concentrations associated with neural activity with tasks like Posner's paradigm (concerning response inhibition and attention shifts). 2. Objective To develop a possible noninvasive objective neuroimaging protocol with a wearable wireless device for assessment of brain activities in children with Tourette syndrome. 3. Method Children aged 6-15 years, with TS or healthy control, received functional NIRS (task-based) with the Posner paradigm after informed consent and neuropsychiatric tests (including WISC-IV test, SNAP-IV rating scale, Yale Global Tic Severity Scale Score). Behavioral data (reaction time and error rates (omission, anticipation, orientation) and NIRS data for neural changes by changes in oxy-hemoglobin and deoxy-hemoglobin levels were recorded and statistically analyzed using the SPSS software. 4. Results 20 subjects were included, 13 male and 7 female (mean age: 9.79 years; all right-handed). No significant differences in reaction time and error rate between Tourette subjects and control. For the NIRS data, more dominant activation at left prefrontal area with increasing flow with task was seen in control subjects while no dominant activation or flow increase with task was noted in Tourette subjects. 5. Conclusion NIRS with prefrontal channels with the wearable wireless device can effectively assess the frontal activation differences and thus probably act as promising neurofeedback tools for TS or other developmental disorders like autism or attention deficit hyperactivity disorder.

Pimozide for tics in Tourette's syndrome.

PubMed

Pringsheim, Tamara; Marras, Connie

2009-04-15

Neuroleptic drugs with potent D-2 receptor blocking properties have been the traditional treatment for tics caused by Tourette Syndrome. Pimozide is the most studied of these. Use of these medications is declining because of concerns about side effects, and new atypical neuroleptics are now available. The true benefit and risks associated with pimozide compared to other drugs is not known. To evaluate the efficacy and harms of pimozide in comparison to placebo or other medications in the treatment of tics in Tourette Syndrome. We cross-referenced pimozide and its proprietary names with Tourette Syndrome and its derivations, as MeSH headings and as text words, and searched the Cochrane Movement Disorders Group Trials Register, the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2007, Issue 4), MEDLINE (1950-April 2007), and EMBASE (1980-April 2007). Reference lists of relevant articles were reviewed for additional trials. All randomized, controlled, double blind studies comparing pimozide to placebo or other medications for the treatment of tics in Tourette Syndrome were considered for inclusion in this review. Both parallel group and crossover studies of children or adults, at any dose and for any duration, were included. Data was abstracted independently by two authors onto standardized forms and disagreements were resolved by discussion. Six randomized controlled trials were included (total 162 participants, age range 7 to 53 years). Pimozide was compared with: placebo and haloperidol (two trials), placebo (one trial), haloperidol (one trial), and risperidone (two trials). Methodological quality was rated 'fair' for all studies. Studies used different outcome measurement scales for assessing tic severity and adverse effects. Significant clinical heterogeneity made meta-analysis inappropriate. Pimozide was superior to placebo in three studies, though it caused more side effects than placebo in one of these. Pimozide was inferior to haloperidol in one of three studies (the other two showed no significant difference between the drugs), which also showed significantly fewer side effects associated with pimozide. No significant differences between pimozide and risperidone were detected. Pimozide is an effective treatment for tics in Tourette Syndrome, though the number of trials comparing its effect to placebo and other drugs is limited. Trials of longer duration (minimum six months) are needed to investigate the longer-term effects of pimozide compared to atypical neuroleptics. Future trials should use the Yale Global Tic Severity Scale to assess the main outcome measure, and quantify adverse events with the Extrapyramidal Symptoms Rating Scale.

"Dude, you don't have Tourette's:" Tourette's syndrome, beyond the tics.

PubMed

Schapiro, Naomi A

2002-01-01

While coprolalia is the most well-known symptom of Tourette's syndrome (TS), it affects only a minority of persons with the condition. TS is a chronic neurobiological condition consisting of vocal and motor tics. Many children with TS have associated obsessive-compulsive disorder (OCD) and/or attention deficit hyperactivity disorder (ADHD), both of which can interfere with school, peer, and family functioning more than the tics themselves. The article distinguishes TS from other tic disorders and reviews literature on epidemiology, etiology, clinical course, and diagnostic and treatment issues. The article discusses the role of primary care pediatric and advanced practice nurses in the diagnosis and management of TS and details helpful interventions in the arenas of personal, family, and educational support, as well as symptom management and indications for medications. The author also suggests areas for future nursing research.

Recent advances in Tourette syndrome research.

PubMed

Albin, Roger L; Mink, Jonathan W

2006-03-01

Tourette syndrome (TS) is a developmentally regulated neurobehavioral disorder characterized by involuntary, stereotyped, repetitive movements. Recent anatomical and neuroimaging studies have provided evidence for abnormal basal ganglia and dopaminergic function in TS. Basic research on striatal inhibitory mechanisms and dopaminergic function complements the recent neuroimaging and anatomical data. Parallel studies of basal ganglia participation in the normal performance and learning of stereotyped repetitive behaviors or habits has provided additional insight. These lines of research have provided new pieces to the TS puzzle, and their increasing convergence is showing how those pieces can be put together.

Criminal and legal responsibilities in Tourette's syndrome.

PubMed

Gullucayir, Sibel; Asirdizer, Mahmut; Yavuz, M Sunay; Zeyfeoglu, Yildiray; Ulucay, Tarik

2009-01-01

Tourette's Syndrome (TS) is a neuropsychological disorder characterized by the presence of multiple involuntary motor tics accompanied by one or more vocal tics. Articles about TS and criminal responsibility and the restriction of civil rights are limited. A person with TS was evaluated to consider his criminal responsibility after swearing at a referee during a football game. He was also evaluated as to whether or not he was capable of professionally driving a service bus. Additionally, medico-legal situations regarding military service, obtaining a shotgun license and marriages of patients with TS were considered.

A school-based application of modified habit reversal for Tourette syndrome via a translator: a case study.

PubMed

Gilman, Rich; Connor, Nancy; Haney, Michelle

2005-11-01

A school-based modified habit reversal intervention was utilized with an adolescent diagnosed with Tourette syndrome who recently immigrated from Mexico. Because the student possessed little proficiency of the English language, an interpreter was needed to help implement the procedure. The frequency of motor tics markedly decreased from baseline to intervention across classroom settings. Results of two follow-up phases revealed that motor tic levels remained below those observed in the baseline phase. Implications and limitations of these findings are noted.

Gilles de la Tourette syndrome as a paradigmatic neuropsychiatric disorder.

PubMed

Cavanna, Andrea E

2018-05-21

Gilles de la Tourette syndrome is a chronic and complex tic disorder accompanied by specific behavioral problems in the majority of patients. With its multifaceted interplay between motion and emotion, this condition is a paradigmatic example of the science and art of clinical neuropsychiatry. This review article encompasses the clinical phenomenology of motor and vocal tics and associated sensory experiences (premonitory urges), as well as the behavioral spectrum of the most common comorbidities, including obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, affective symptoms, and impulsivity. Knowledge of the contributions of both tics and behavioral problems to patients' health-related quality of life across the lifespan should assist treating clinicians in formulating a targeted management plan. Although the exact pathophysiology of Gilles de la Tourette syndrome remains elusive, research into therapeutic interventions has expanded the range of available interventions across multiple domains. A thorough understanding of the neurology and psychiatry of this condition is of key importance to meet the needs of this patient population, from the formulation of an accurate diagnosis to the implementation of effective treatment strategies.

[Therapeutic management of tics in Tourette's syndrome].

PubMed

Diallo, R; Welter, M L; Mallet, L

2007-03-01

Tourette's syndrome is a neuropsychiatric disorder characterised by both involuntary movements, tics, and psychiatric symptoms, attentional deficit disorder, hyperactivity, obsessive compulsive symptoms..., and can be the cause of major disability. Over the past 30 years, several types of treatment have been proposed for the treatment of tics in Tourette's Syndrome, ranging from psychotherapeutic approaches to neurosurgery. The education of the patient and his entourage is fundamental and must be offered to all patients. Psychotherapy does not directly improve the tics but contributes to a better adjustment of both patient and carers to his disability. The decision to start a course of drug therapy depends largely on the impact of the patient's tics on his personal life. Drug treatment relies on neuromodulators acting on a variety of neural systems and whose efficacy has been rarely demonstrated. The literature shows that the latest generation of dopaminergic antagonists have the highest benefit/risk ratio. Recently, deep brain stimulation, by modulating neuronal activity in structures involved in the pathophysiology of the disease, has become a promising therapeutical approach, producing a marked decrease in the severity of tics over that obtained with other treatments.

"I swear it is Tourette's!": On functional coprolalia and other tic-like vocalizations.

PubMed

Ganos, Christos; Edwards, Mark J; Müller-Vahl, Kirsten

2016-12-30

Coprolalia in neuropsychiatry is typically associated with tic disorders, in particular Gilles de la Tourette syndrome. To date, there has been no report of functional coprolalia. Here, we provide the clinical characteristics of 13 adolescent and adult patients with coprolalic and other functional tic-like complex vocalizations who, on the basis of these symptoms, were misdiagnosed with a primary tic disorder, most commonly Gilles de la Tourette syndrome. We describe similarities and highlight the differences from primary tic disorders in order to provide a pragmatic list of clinical clues that will facilitate correct diagnostic labeling and thereby treatment. Finally, we emphasize that the distinction between a primary and a functional tic disorder should rely on a combination of neuropsychiatric symptoms and signs and not on the presence of single, however striking, abnormal behaviors, such as coprolalia. Copyright © 2016 The Authors. Published by Elsevier Ireland Ltd.. All rights reserved.

Advances in Tourette syndrome: diagnoses and treatment.

PubMed

Serajee, Fatema J; Mahbubul Huq, A H M

2015-06-01

Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory sensory urges before tic execution and desire for "just-right" perception are central features. The pathophysiology involves cortico-striato-thalamo-cortical circuits and possibly dopaminergic system. TS is considered a genetic disorder but the genetics is complex and likely involves rare mutations, common variants, and environmental and epigenetic factors. Treatment is multimodal and includes education and reassurance, behavioral interventions, pharmacologic, and rarely, surgical interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

Toward a Symptom-Guided Neurostimulation for Gilles de la Tourette Syndrome

PubMed Central

Pedroarena-Leal, Nicole; Ruge, Diane

2017-01-01

Therapy resistance of approximately one-third of patients with Gilles de la Tourette syndrome (GTS) requires consideration of alternative therapeutic interventions. This article provides a condensed review of the invasive and non-invasive stimulation techniques that have been applied, to date, for treatment and investigation of GTS. Through this perspective and short review, the article discusses potential novel applications for neurostimulation techniques based on a symptom-guided approach. The concept of considering the physiological basis of specific symptoms when using stimulation techniques will provide a platform for more effective non-pharmacological neuromodulation of symptoms in GTS. PMID:28289393

Positive clinical effects of gamma knife capsulotomy in a patient with deep brain stimulation-refractory Tourette Syndrome and Obsessive Compulsive Disorder.

PubMed

Richieri, Raphaëlle; Blackman, Graham; Musil, Richard; Spatola, Giorgio; Cavanna, Andrea E; Lançon, Christophe; Régis, Jean

2018-04-26

We report the first case of a patient with severe, intractable Tourette Syndrome with comorbid Obsessive Compulsive disorder, who recovered from both disorders with gamma-knife (GK) stereotactic radiosurgery following deep brain stimulation (DBS). This case highlights the possible role of the internal capsule within the neural circuitries underlying both TS and OCD, and suggests that in cases of treatment-refractory TS and comorbid OCD, bilateral anterior capsulotomy using stereotactic radiosurgery may be a viable treatment option. Copyright © 2018 Elsevier B.V. All rights reserved.

Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce motor tics in Tourette syndrome

PubMed Central

Arbib, Michael A.; Baldassarre, Gianluca

2017-01-01

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. These predictions could be important in identifying new brain target areas for future therapies. Finally, the model represents the first computational attempt to study the role of the recently discovered basal ganglia-cerebellar anatomical links. Studying this non-cortex-mediated basal ganglia-cerebellar interaction could radically change our perspective about how these areas interact with each other and with the cortex. Overall, the model also shows the utility of casting Tourette syndrome within a system-level perspective rather than viewing it as related to the dysfunction of a single brain area. PMID:28358814

Dysfunctions of the basal ganglia-cerebellar-thalamo-cortical system produce motor tics in Tourette syndrome.

PubMed

Caligiore, Daniele; Mannella, Francesco; Arbib, Michael A; Baldassarre, Gianluca

2017-03-01

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. These predictions could be important in identifying new brain target areas for future therapies. Finally, the model represents the first computational attempt to study the role of the recently discovered basal ganglia-cerebellar anatomical links. Studying this non-cortex-mediated basal ganglia-cerebellar interaction could radically change our perspective about how these areas interact with each other and with the cortex. Overall, the model also shows the utility of casting Tourette syndrome within a system-level perspective rather than viewing it as related to the dysfunction of a single brain area.

Tics and tourette syndrome.

PubMed

Ganos, Christos; Martino, Davide

2015-02-01

Gilles de la Tourette syndrome is a common neuropsychiatric disorder spectrum with tics as the defining feature. Comorbidities such as attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, and autism spectrum disorder often complicate clinical presentation. Their recognition is paramount for the introduction of efficient treatment strategies to promote healthy development and good quality of life. Here, knowledge on the movement disorder of tics, the spectrum of associated comorbidities, and the list of differential diagnoses of tic disorders are summarized. Also, an account of the prevailing pathophysiologic models of tic generation is provided, and a concise update on contemporary treatment strategies is presented. Copyright © 2015 Elsevier Inc. All rights reserved.

The pathophysiology of echopraxia/echolalia: relevance to Gilles de la Tourette syndrome.

PubMed

Ganos, Christos; Ogrzal, Timo; Schnitzler, Alfons; Münchau, Alexander

2012-09-01

Echopraxia and echolalia are subsets of imitative behavior. They are essential developmental elements in social learning. Their persistence or reemergence after a certain age, though, can be a sign of underlying brain dysfunction. Although echophenomena have been acknowledged as a typical sign in Gilles de la Tourette syndrome (GTS) since its first description, their clinical significance and neural correlates are largely unknown. Here, we review the course of their scientific historical development and focus on their clinical phenomenology and differential diagnosis with a particular view to GTS. The neural basis of echophenomena will also be addressed. © 2012 Movement Disorder Society. Copyright © 2012 Movement Disorder Society.

Counterfactual thinking in Tourette's syndrome: a study using three measures.

PubMed

Zago, Stefano; Delli Ponti, Adriana; Mastroianni, Silvia; Solca, Federica; Tomasini, Emanuele; Poletti, Barbara; Inglese, Silvia; Sartori, Giuseppe; Porta, Mauro

2014-01-01

Pathophysiological evidence suggests an involvement of frontostriatal circuits in Tourette syndrome (TS) and cognitive abnormalities have been detected in tasks sensitive to cognitive deficits associated with prefrontal damage (verbal fluency, planning, attention shifting, working memory, cognitive flexibility, and social reasoning). A disorder in counterfactual thinking (CFT), a behavioural executive process linked to the prefrontal cortex functioning, has not been investigated in TS. CFT refers to the generation of a mental simulation of alternatives to past factual events, actions, and outcomes. It is a pervasive cognitive feature in everyday life and it is closely related to decision-making, planning, problem-solving, and experience-driven learning-cognitive processes that involve wide neuronal networks in which prefrontal lobes play a fundamental role. Clinical observations in patients with focal prefrontal lobe damage or with neurological and psychiatric diseases related to frontal lobe dysfunction (e.g., Parkinson's disease, Huntington's disease, and schizophrenia) show counterfactual thinking impairments. In this work, we evaluate the performance of CFT in a group of patients with Tourette's syndrome compared with a group of healthy participants. Overall results showed no statistical differences in counterfactual thinking between TS patients and controls in the three counterfactual measures proposed. The possible explanations of this unexpected result are discussed below.

Tourette syndrome and other chronic tic disorders: an update on clinical management.

PubMed

Martino, Davide; Pringsheim, Tamara M

2018-02-01

The management of Tourette syndrome (TS) and other chronic tic disorders occurs in multiple stages and begins with comprehensive assessment and complex psychoeducation. Behavioral and pharmacological interventions (second stage) are needed when tics cause physical or psychosocial impairment. Deep brain stimulation surgery or experimental therapies represent the third stage. Areas covered: Discussed are recent advances in assessment and therapy of chronic tic disorders, encompassing the three stages of intervention, with the addition of experimental, non-invasive brain stimulation strategies. A PubMed search was performed using as keywords: 'tic disorders', 'Tourette syndrome', 'assessment', 'rating scales', 'behavioral treatment', 'pharmacological treatment', 'deep brain stimulation', 'transcranial magnetic (or current) stimulation', and 'transcranial current stimulation'. More than 300 peer-reviewed articles were evaluated. The studies discussed have been selected on the basis of novelty and impact. Expert commentary: Comprehensive assessment of tic disorders and psychoeducation are crucial to a correct active management approach. Behavioral treatments represent first line of active interventions, with increasing potential offered by telehealth. Antipsychotics and alpha agonists remain first line pharmacological interventions for tics, although VMAT-2 inhibitors appear promising. Deep brain stimulation is a potential option for medically refractory, severely disabled patients with tics, but age and target selection require further investigation.

A Tourette-like syndrome following cardiopulmonary bypass and hypothermia: MRI volumetric measurements.

PubMed

Singer, H S; Dela Cruz, P S; Abrams, M T; Bean, S C; Reiss, A L

1997-07-01

We present the case of an adolescent boy who developed a variety of simple and complex motor and vocal tics (Tourette-like syndrome), along with inattentiveness and obsessive-compulsive behaviors after cardiac surgery with cardiopulmonary bypass and profound hypothermia. A single photon emission computed tomography study 2 months after surgery showed reduced uptake in the left hemisphere and 2 years later a perfusion defect in the basal ganglia. Serial magnetic resonance imaging (MRI) studies were normal. Volumetric MRI studies were obtained 4 years after surgery and compared with published values for normal individuals and children with Tourette syndrome (TS), including subsets matched for age, sex, and handedness. Measurement of basal ganglia structures showed a right-dominant asymmetry of the caudate and putamen, in part similar to findings previously reported in patients with TS. Other volumetric abnormalities included a > 2-SD reduction of cortical gray matter, a small decrease of total cerebral volume, and increase in cerebral white matter. Although a variety of neurological problems may occur after cardiopulmonary bypass, to our knowledge this case represents the first report of a chronic tic disorder following cardiac surgery with cardiopulmonary bypass and hypothermia.

Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities.

PubMed

Katayama, K; Yamada, K; Ornthanalai, V G; Inoue, T; Ota, M; Murphy, N P; Aruga, J

2010-02-01

Mutations in SLITRK1 are found in patients with Tourette's syndrome and trichotillomania. SLITRK1 encodes a transmembrane protein containing leucine-rich repeats that is produced predominantly in the nervous system. However, the role of this protein is largely unknown, except that it can modulate neurite outgrowth in vitro. To clarify the role of Slitrk1 in vivo, we developed Slitrk1-knockout mice and analyzed their behavioral and neurochemical phenotypes. Slitrk1-deficient mice exhibited elevated anxiety-like behavior in the elevated plus-maze test as well as increased immobility time in forced swimming and tail suspension tests. Neurochemical analysis revealed that Slitrk1-knockout mice had increased levels of norepinephrine and its metabolite 3-methoxy-4-hydroxyphenylglycol. Administration of clonidine, an alpha2-adrenergic agonist that is frequently used to treat patients with Tourette's syndrome, attenuated the anxiety-like behavior of Slitrk1-deficient mice in the elevated plus-maze test. These results lead us to conclude that noradrenergic mechanisms are involved in the behavioral abnormalities of Slitrk1-deficient mice. Elevated anxiety due to Slitrk1 dysfunction may contribute to the pathogenesis of neuropsychiatric diseases such as Tourette's syndrome and trichotillomania.

Tourette syndrome: the self under siege.

PubMed

Leckman, James F; Bloch, Michael H; Scahill, Lawrence; King, Robert A

2006-08-01

Tourette syndrome is a neurodevelopmental disorder characterized by motor and vocal tics--rapid, repetitive, stereotyped movements or vocalizations. Tourette syndrome typically has a prepubertal onset, and boys are more commonly affected than girls. Symptoms usually begin with transient bouts of simple motor tics. By age 10 years, most children are aware of nearly irresistible somatosensory urges that precede the tics. These urges likely reflect a defect in sensorimotor gating because they intrude into the child's conscious awareness and become a source of distraction and distress. A momentary sense of relief typically follows the completion of a tic. Over the course of hours, tics occur in bouts, with a regular intertic interval. Tics increase during periods of emotional excitement and fatigue. Tics can become "complex" in nature and appear to be purposeful. Tics can be willfully suppressed for brief intervals and can be evoked by the mere mention of them. Tics typically diminish during periods of goal-directed behavior, especially those that involve both heightened attention and fine motor or vocal control, as occur in musical and athletic performances. Over the course of months, tics wax and wane. New tics appear, often in response to new sources of somatosensory irritation, such as the appearance of a persistent vocal tic (a cough) following a cold. Over the course of years, tic severity typically peaks between 8 and 12 years of age. By the end of the second decade of life, many individuals are virtually tic free. Less than 20% of cases continue to experience clinically impairing tics as adults. Tics rarely occur in isolation, and other coexisting conditions--such as behavioral disinhibition, hypersensitivity to a broad range of sensory stimuli, problems with visual motor integration, procedural learning difficulties, attention-deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, depression, anxiety, and emotional instability--are often a greater source of impairment than the tics themselves. Emerging behavioral treatments of Tourette syndrome are based in part on an understanding of the moment-to-moment experience of somatosensory urges and motor response. With identification of specific genes of major effect and advances in our understanding of the neural circuitry of sensorimotor gating, habit formation, and procedural memory--together with insights from postmortem brain studies, in vivo brain imaging, and electrophysiologic recordings--we might be on the threshold of a deeper understanding of the phenomenology and natural history of Tourette syndrome.

Ischemic Stroke and Epilepsy in a Patient with Tourette´s Syndrome: Association with the Antiphospholipid Syndrome and Good Response to Levetiracetam

PubMed Central

Seijo-Martínez, M; Mosquera-Martínez, J.A; Romero-Yuste, S; Cruz-Martinez, J

2008-01-01

The role played by different humoral factors, including antiphospholipid antibodies, in the pathogenesis of Tourette syndrome (TS) is still presently unclear. We present a patient with chronic and severe TS who, at the age of 16 years, presented an ischemic stroke in the left posterior cerebral artery and/or postero-inferior temporal branch of the left medial cerebral artery. A complete study was negative with the exception of a positive lupus anticoagulant. The stroke was related with the primary antiphospholipid syndrome (APS). The stroke manifested visual abnormalities and thereafter by secondary generalized complex partial seizures. The epileptic syndrome was initially difficult to control but responded dramatically to levetiracetam. With this therapy, the manifestations of TS, especially the tics, improved. We conclude that some TS cases may present APS. In addition, levetiracetam may be useful in the management of TS. Further investigations should pursue both these facts. PMID:19018305

Dr Samuel Johnson's movement disorder.

PubMed Central

Murray, T J

1979-01-01

Dr Samuel Johnson was noted by his friends to have almost constant tics and gesticulations, which startled those who met him for the first time. He also made noises and whistling sounds; he made repeated sounds and words and irregular or blowing respiratory noises. Further, he often carried out pronounced compulsive acts, such as touching posts, measuring his footsteps on leaving a room, and performing peculiar complex gestures and steps before crossing a threshold. His symptoms of (a) involuntary muscle jerking movements and complex motor acts, (b) involuntary vocalisation, and (c) compulsive actions constitute the symptom complex of Gilles de la Tourette syndrome (Tourette's syndrome), from which Johnson suffered most of his life. This syndrome is of increasing interest recently because it responds to haloperidol, and because there are new insights into a possible biochemical basis for the tics, vocalisations, and compulsions. PMID:380753

Quality of life in adults with Gilles de la Tourette Syndrome

PubMed Central

2012-01-01

Background Few studies have used standardized QOL instruments to assess the quality of life (QOL) in Gilles de la Tourette Syndrome (GTS) patients. This work investigates the QOL of adult GTS patients and examines the relationships between physical and psychological variables and QOL. Methods Epidemiological investigation by anonymous national postal survey of QOL of patients of the French Association of Gilles de la Tourette Syndrome (AFGTS) aged 16 years or older. The clinical and QOL measures were collected by four questionnaires: a sociodemographic and GTS-related symptoms questionnaire, the World Health Organization Quality Of Life questionnaire (WHOQOL-26), the Functional Status Questionnaire (FSQ), and a self-rating questionnaire on psychiatric symptoms (SCL-90), all validated in French. We used stepwise regression analysis to explicitly investigate the relationships between physical and psychological variables and QOL domains in GTS. Results Questionnaires were posted to 303 patients, of whom 167 (55%) completed and returned them. Our results, adjusted for age and gender, show that patients with GTS have a worse QOL than the general healthy population. In particular, the “Depression” psychological variable was a significant predictor of impairment in all WHOQOL-26 domains, psychological but also physical and social. Conclusions The present study demonstrates a strong relationship between QOL in GTS and psychiatric symptoms, in particular those of depression. PMID:22888766

Quality of life in adults with Gilles de la Tourette Syndrome.

PubMed

Jalenques, Isabelle; Galland, Fabienne; Malet, Laurent; Morand, Dominique; Legrand, Guillaume; Auclair, Candy; Hartmann, Andreas; Derost, Philippe; Durif, Franck

2012-08-13

Few studies have used standardized QOL instruments to assess the quality of life (QOL) in Gilles de la Tourette Syndrome (GTS) patients. This work investigates the QOL of adult GTS patients and examines the relationships between physical and psychological variables and QOL. Epidemiological investigation by anonymous national postal survey of QOL of patients of the French Association of Gilles de la Tourette Syndrome (AFGTS) aged 16 years or older. The clinical and QOL measures were collected by four questionnaires: a sociodemographic and GTS-related symptoms questionnaire, the World Health Organization Quality Of Life questionnaire (WHOQOL-26), the Functional Status Questionnaire (FSQ), and a self-rating questionnaire on psychiatric symptoms (SCL-90), all validated in French. We used stepwise regression analysis to explicitly investigate the relationships between physical and psychological variables and QOL domains in GTS. Questionnaires were posted to 303 patients, of whom 167 (55%) completed and returned them. Our results, adjusted for age and gender, show that patients with GTS have a worse QOL than the general healthy population. In particular, the "Depression" psychological variable was a significant predictor of impairment in all WHOQOL-26 domains, psychological but also physical and social. The present study demonstrates a strong relationship between QOL in GTS and psychiatric symptoms, in particular those of depression.

A personal 35 year perspective on Gilles de la Tourette syndrome: assessment, investigations, and management.

PubMed

Robertson, Mary M

2015-01-01

After having examined the definition, clinical phenomenology, comorbidity, psychopathology, and phenotypes in the first paper of this Series, here I discuss the assessment, including neuropsychology, and the effects of Gilles de la Tourette syndrome with studies showing that the quality of life of patients with Tourette's syndrome is reduced and that there is a substantial burden on the family. In this paper, I review my local and collaborative studies investigating causal factors (including genetic vulnerability, prenatal and perinatal difficulties, and neuro-immunological factors). I also present my studies on neuro-imaging, electro-encephalograms, and other special investigations, which are helpful in their own right or to exclude other conditions. Finally, I also review our studies on treatment including medications, transcranial magnetic stimulation, biofeedback, target-specific botulinum toxin injections, biofeedback and, in severe refractory adults, psychosurgery and deep brain stimulation. This Review summarises and highlights selected main findings from my clinic (initially The National Hospital for Neurology and Neurosurgery Queen Square and University College London, UK, and, subsequently, at St George's Hospital, London, UK), and several collaborations since 1980. As in Part 1 of this Series, I address the main controversies in the fields and the research of other groups, and I make suggestions for future research. Copyright © 2015 Elsevier Ltd. All rights reserved.

Intensive outpatient comprehensive behavioral intervention for tics: A case series

PubMed Central

Blount, Tabatha H; Lockhart, Ann-Louise T; Garcia, Rocio V; Raj, Jeslina J; Peterson, Alan L

2014-01-01

Recent randomized clinical trials have established the efficacy of Comprehensive Behavioral Intervention for Tics (CBIT) in treating children and adults with Tourette syndrome and persistent tic disorders. However, the standard CBIT protocol uses a weekly outpatient treatment format (i.e., 8 sessions over 10 wk), which may be inconvenient or impractical for some patients, particularly patients, who are required to travel long distances in order to receive care. In contrast, an intensive outpatient program may increase accessibility to evidence-based behavioral treatments for Tourette syndrome and other persistent tic disorders by eliminating the necessity of repeated travel. This case series evaluated the use of an intensive outpatient program CBIT (IOP CBIT) for the treatment of 2 preadolescent males (ages 10 and 14 years) with Tourette syndrome. The IOP CBIT treatment protocol included several hours of daily treatment over a 4-d period. Both children evidenced notable reductions in their tics and maintained treatment gains at follow-up. Moreover, both patients and their parents expressed treatment satisfaction with the IOP CBIT format. This case series addresses an important research gap in the behavioral treatment of tic disorders literature. The patients’ treatment outcomes indicate that IOP CBIT is a promising treatment that warrants more systematic investigation. PMID:25325069

Efficacy of Glutamate Modulators in Tic Suppression: A Double-Blind, Randomized Control Trial of D-serine and Riluzole in Tourette Syndrome.

PubMed

Lemmon, Monica E; Grados, Marco; Kline, Tina; Thompson, Carol B; Ali, Syed F; Singer, Harvey S

2015-06-01

It has been hypothesized that glutamatergic transmission may be altered in Tourette syndrome. In this study, we explored the efficacy of a glutamate agonist (D-serine) and antagonist (riluzole) as tic-suppressing agents in children with Tourette syndrome. We performed a parallel three-arm, 8-week, double-blind, randomized placebo-controlled treatment study in children with Tourette syndrome. Each child received 6 weeks of treatment with D-serine (maximum dose 30 mg/kg/day), riluzole (maximum dose 200 mg/day), or placebo, followed by a 2-week taper. The primary outcome measure was effective tic suppression as determined by the differences in the Yale Global Tic Severity Scale score; specifically, the total tic score and the combined score (total tic score + global impairment) between treatment arms after 6 weeks of treatment. Mann-Whitney U tests were performed to analyze differences between each group and the placebo group. Twenty-four patients (males = 21, ages 9-18) enrolled in the study; one patient dropped out before completion. Combined Yale Global Tic Severity Scale score and total tic scores improved in all groups. The 6-week mean percent improvement of the riluzole (n = 10), D-serine (n = 9), and placebo (n = 5) groups in the combined Yale Global Tic Severity Scale score were 43.7, 39.5, and 30.2 and for total tic scores were 38.0, 25.0, and 34.0, respectively. There were no significant differences in Yale Global Tic Severity Scale score or total tic score, respectively, between the riluzole and placebo (P = 0.35, 0.85) or D-serine and placebo (P = 0.50, 0.69) groups. Tics diminished by comparable percentages in the riluzole, D-serine, and placebo groups. These preliminary data suggest that D-serine and riluzole are not effective in tic suppression. Copyright © 2015 Elsevier Inc. All rights reserved.

Randomized Trial of Behavior Therapy for Adults with Tourette’s Disorder

PubMed Central

Wilhelm, Sabine; Peterson, Alan L.; Piacentini, John; Woods, Douglas W.; Deckersbach, Thilo; Sukhodolsky, Denis G.; Chang, Susanna; Liu, Haibei; Dziura, James; Walkup, John T.; Scahill, Lawrence

2013-01-01

Context Tics in Tourette syndrome begin in childhood, peak in early adolescence, and often decline by early adulthood. However, some adult patients continue to have impairing tics. Medications for tics are often effective but can cause adverse effects. Behavior therapy may offer an alternative but has not been examined in a large-scale controlled trial in adults. Objective To test the efficacy of a comprehensive behavioral intervention for tics in adults with Tourette syndrome of at least moderate severity. Design A randomized, controlled trial with posttreatment evaluations at 3 and 6 months for positive responders. Setting Three outpatient research clinics. Subjects Subjects (N = 122; 78 males, age 16 to 69 years) with Tourette syndrome or chronic tic disorder. Interventions Eight sessions of Comprehensive Behavioral Intervention for Tics or 8 sessions of supportive treatment delivered over 10 weeks. Subjects showing a positive response were given 3 monthly booster sessions. Main Outcome Measures Total Tic score of the Yale Global Tic Severity Scale and the Improvement scale of the Clinical Global Impression rated by a clinician blind to treatment assignment. Results Behavior therapy was associated with a significantly greater decrease on the Yale Global Tic Severity Scale (24.0 ± 6.47 to 17.8 ± 7.32) from baseline to endpoint compared to the control treatment (21.8 ± 6.59 to 19.3 ± 7.40) (P < .001; effect size = 0.57). Twenty-four of 63 subjects (38.1%) in CBIT were rated as Much Improved or Very Much Improved on the Clinical Global Impression-Improvement scale compared to 6.8% (4 of 63) in the control group (P < .0001). Attrition was 13.9% with no difference across groups. Subjects in behavior therapy available for assessment at 6 months posttreatment showed continued benefit. Conclusions Comprehensive behavior therapy is a safe and effective intervention for adults with Tourette syndrome. PMID:22868933

Are there distinct subtypes in Tourette syndrome? Pure-Tourette syndrome versus Tourette syndrome-plus, and simple versus complex tics

PubMed Central

Eapen, Valsamma; Robertson, Mary M

2015-01-01

This study addressed several questions relating to the core features of Tourette syndrome (TS) including in particular coprolalia (involuntary utterance of obscene words) and copropraxia (involuntary and inappropriate rude gesturing). A cohort of 400 TS patients was investigated. We observed that coprolalia occurred in 39% of the full cohort of 400 patients and copropraxia occurred in 20% of the cohort. Those with coprolalia had significantly higher Yale Global Tic Severity Scale (YGTSS) and Diagnostic Confidence Index (DCI) total scores and a significantly higher proportion also experienced copropraxia and echolalia. A subgroup of 222 TS patients with full comorbidity data available were also compared based on whether they had pure-TS (motor and vocal tics only) or associated comorbidities and co-existent psychopathologies (TS-plus). Pure-TS and TS-plus groups were compared across a number of characteristics including TS severity, associated clinical features, and family history. In this subgroup, 13.5% had pure-TS, while the remainder had comorbidities and psychopathologies consistent with TS-plus. Thirty-nine percent of the TS-plus group displayed coprolalia, compared to (0%) of the pure-TS group and the difference in proportions was statistically significant. The only other significant difference found between the two groups was that pure-TS was associated with no family history of obsessive compulsive disorder which is an interesting finding that may suggest that additional genes or environmental factors may be at play when TS is associated with comorbidities. Finally, differences between individuals with simple versus complex vocal/motor tics were evaluated. Results indicated that individuals with complex motor/vocal tics were significantly more likely to report premonitory urges/sensations than individuals with simple tics and TS. The implications of these findings for the assessment and understanding of TS are discussed. PMID:26089672

Neurogenetic and Neurodevelopmental Pathways to Learning Disabilities.

ERIC Educational Resources Information Center

Mazzocco, Michele M. M.; And Others

1997-01-01

This paper reviews ongoing research designed to specify the cognitive, behavioral, and neuroanatomical phenotypes of specific genetic etiologies of learning disability. The genetic disorders at the focus of the research include reading disability, neurofibromatosis type 1, Tourette syndrome, and fragile X syndrome. Implications for identifying…

Measuring participation in children with Gilles de la Tourette syndrome: a pilot study with ICF-CY.

PubMed

Meucci, Paolo; Leonardi, Matilde; Zibordi, Federica; Nardocci, Nardo

2009-01-01

Environmental factors (EF) have an important role on Tourette's symptoms and the same factors can be decisive on the impact that the disease has on people with Tourette syndrome (TS) daily life. The research was carried out by the Neurological Institute Carlo Besta IRCCS Foundation with the principal objective of describing the complete range of functional profiles of children with TS, to define the functioning and the difficulties in social participation. The research protocol was composed of the ICF-CY questionnaire, WHO-DAS II proxy version, the Vineland Adaptive Behavior Scale and the Kidscreen questionnaires - Quality of life (QoL) questionnaires for children and adolescents. The research protocol involved a multidisciplinary team (medical staff, psychologist, pedagogist). The children reported higher QoL's level than the QoL attributed by parents. The Vineland scores reflected considerable difficulties in socialisation. Through the EF analysis, this study highlights the facilitating role of the immediate family and health professionals. Beyond the clinical symptoms, this study points out that the therapeutic elements must be identified by a change of environment, and not only in a child's adaptation ability.

Detection of autoantibodies and increased concentrations of interleukins in plasma from patients with Tourette's syndrome.

PubMed

Cheng, Yu-hang; Zheng, Yi; He, Fan; Yang, Jian-hong; Li, Wen-biao; Wang, Min-ling; Cui, De-yan; Chen, Ying

2012-09-01

The aim of this study was to assess levels of autoantibodies and cytokines in patients with Tourette's syndrome (TS, n = 40) and healthy control individuals (n = 40). Plasma interleukin (IL)-1β, IL-6, IL-17, and soluble gp130 concentrations were significantly higher in the TS group compared with the control group (P < 0.001); whereas the soluble IL-6 receptor concentration was significantly decreased in the TS group compared with the control group (P < 0.001). Significantly more patients in the TS group were positive for antibrain and antinuclear antibodies, and antistreptolysin compared with the control group (P < 0.05). These findings suggest that immune activity is altered in patients with TS.

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

PubMed Central

Willsey, A. Jeremy; Fernandez, Thomas V.; Yu, Dongmei; King, Robert A.; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J.; Mandell, Jeffrey D.; Huang, Alden Y.; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E.; Neale, Benjamin M.; Coppola, Giovanni; Mathews, Carol A.; Tischfield, Jay A.; Scharf, Jeremiah M.; State, Matthew W.; Heiman, Gary A.

2017-01-01

SUMMARY 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] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. PMID:28472652

European clinical guidelines for Tourette syndrome and other tic disorders. Part IV: deep brain stimulation.

PubMed

Müller-Vahl, Kirsten R; Cath, Danielle C; Cavanna, Andrea E; Dehning, Sandra; Porta, Mauro; Robertson, Mary M; Visser-Vandewalle, Veerle

2011-04-01

Ten years ago deep brain stimulation (DBS) has been introduced as an alternative and promising treatment option for patients suffering from severe Tourette syndrome (TS). It seemed timely to develop a European guideline on DBS by a working group of the European Society for the Study of Tourette Syndrome (ESSTS). For a narrative review a systematic literature search was conducted and expert opinions of the guidelines group contributed also to the suggestions. Of 63 patients reported so far in the literature 59 had a beneficial outcome following DBS with moderate to marked tic improvement. However, randomized controlled studies including a larger number of patients are still lacking. Although persistent serious adverse effects (AEs) have hardly been reported, surgery-related (e.g., bleeding, infection) as well as stimulation-related AEs (e.g., sedation, anxiety, altered mood, changes in sexual function) may occur. At present time, DBS in TS is still in its infancy. Due to both different legality and practical facilities in different European countries these guidelines, therefore, have to be understood as recommendations of experts. However, among the ESSTS working group on DBS in TS there is general agreement that, at present time, DBS should only be used in adult, treatment resistant, and severely affected patients. It is highly recommended to perform DBS in the context of controlled trials.

Bridging neuroscience and clinical psychology: cognitive behavioral and psychophysiological models in the evaluation and treatment of Gilles de la Tourette syndrome

PubMed Central

Lavoie, Marc E; Leclerc, Julie; O’Connor, Kieron P

2013-01-01

SUMMARY Cognitive neuroscience and clinical psychology have long been considered to be separate disciplines. However, the phenomenon of brain plasticity in the context of a psychological intervention highlights the mechanisms of brain compensation and requires linking both clinical cognition and cognitive psychophysiology. A quantifiable normalization of brain activity seems to be correlated with an improvement of the tic symptoms after cognitive behavioral therapy in patients with Gilles de la Tourette syndrome (GTS). This article presents broad outlines of the state of the current literature in the field of GTS. We present our clinical research model and methodology for the integration of cognitive neuroscience in the psychological evaluation and treatment of GTS to manage chronic tic symptoms. PMID:24795782

Premonitory urges and tics in Tourette syndrome: computational mechanisms and neural correlates.

PubMed

Conceição, Vasco A; Dias, Ângelo; Farinha, Ana C; Maia, Tiago V

2017-10-01

Tourette syndrome is characterized by open motor behaviors - tics - but another crucial aspect of the disorder is the presence of premonitory urges: uncomfortable sensations that typically precede tics and are temporarily alleviated by tics. We review the evidence implicating the somatosensory cortices and the insula in premonitory urges and the motor cortico-basal ganglia-thalamo-cortical loop in tics. We consider how these regions interact during tic execution, suggesting that the insula plays an important role as a nexus linking the sensory and emotional character of premonitory urges with their translation into tics. We also consider how these regions interact during tic learning, integrating the neural evidence with a computational perspective on how premonitory-urge alleviation reinforces tics. Copyright © 2017 Elsevier Ltd. All rights reserved.

Anti-streptococcal, tubulin, and dopamine receptor 2 antibodies in children with PANDAS and Tourette syndrome: single-point and longitudinal assessments.

PubMed

Morris-Berry, C M; Pollard, M; Gao, S; Thompson, C; Singer, H S

2013-11-15

Single-point-in-time ELISA optical densities for three putative antibodies identified in Sydenham's chorea, the streptococcal group A carbohydrate antigen, N-acetyl-beta-d-glucosamine, tubulin, and the dopamine 2 receptor, showed no differences in children with PANDAS (n=44) or Tourette syndrome (n=40) as compared to controls (n=24). Anti-tubulin and D2 receptor antibodies assessed in serial samples from 12 PANDAS subjects obtained prior to a documented exacerbation, during the exacerbation (with or without a temporally associated streptococcal infection), and following the exacerbation, showed no evidence of antibody levels correlating with a clinical exacerbation. These data do not support hypotheses suggesting an autoimmune hypothesis in either TS or PANDAS. © 2013.

Behavior Therapy for Tourette Syndrome: A Systematic Review and Meta-analysis.

PubMed

Wile, Daryl J; Pringsheim, Tamara M

2013-08-01

When tics caused by Tourette Syndrome cause meaningful impairment for patients, a comprehensive treatment approach includes education of patients, peers, and family, treatment of comorbid behavioral disorders if present, and consideration of behavior therapy and pharmacotherapy for tics themselves. This systematic review and meta-analysis demonstrates that behavior therapies based on Habit Reversal Therapy, including the Comprehensive Behavioral Intervention for Tics are effective in reducing tic severity when compared with supportive psychotherapy. When these behavior therapies are unavailable, Exposure with Response Prevention may also be effective. Both face-to-face and telehealth delivery methods for behavior therapy improve tic severity, and broader distribution of behavior therapy through increased training or telehealth methods is encouraged. High-quality randomized trials comparing behavior therapies for tics with pharmacotherapy are needed.

Family-based association study between monoamine oxidase A (MAOA) gene promoter VNTR polymorphism and Tourette's syndrome in Chinese Han population.

PubMed

Liu, Shiguo; Wang, Xueqin; Xu, Longqiang; Zheng, Lanlan; Ge, Yinlin; Ma, Xu

2015-02-01

To clarify the association of monoamine oxidase A- variable number of tandem repeat (MAOA-pVNTR) with susceptibility to Tourette's syndrome (TS) in Chinese Han population we discuss the genetic contribution of MAOA-VNTR in 141 TS patients including all their parents in Chinese Han population using transmission disequilibrium test (TDT) design. Our results revealed that no significant association was found in the MAOA gene promoter VNTR polymorphism and TS in Chinese Han population (TDT = 1.515, df = 1, p > 0.05). The negative result may be mainly due to the small sample size, but we don't deny the role of gene coding serotonergic or monoaminergic structures in the etiology of TS.

Bridging neuroscience and clinical psychology: cognitive behavioral and psychophysiological models in the evaluation and treatment of Gilles de la Tourette syndrome.

PubMed

Lavoie, Marc E; Leclerc, Julie; O'Connor, Kieron P

2013-02-01

Cognitive neuroscience and clinical psychology have long been considered to be separate disciplines. However, the phenomenon of brain plasticity in the context of a psychological intervention highlights the mechanisms of brain compensation and requires linking both clinical cognition and cognitive psychophysiology. A quantifiable normalization of brain activity seems to be correlated with an improvement of the tic symptoms after cognitive behavioral therapy in patients with Gilles de la Tourette syndrome (GTS). This article presents broad outlines of the state of the current literature in the field of GTS. We present our clinical research model and methodology for the integration of cognitive neuroscience in the psychological evaluation and treatment of GTS to manage chronic tic symptoms.

Life events and Tourette syndrome.

PubMed

Steinberg, Tamar; Shmuel-Baruch, Sharona; Horesh, Netta; Apter, Alan

2013-07-01

Tourette syndrome (TS) is a neuropsychiatric developmental disorder characterized by the presence of multiple motor tics and one or more vocal tics. Although TS is primarily biological in origin, stress-diatheses interactions most probably play a role in the course of the illness. The precise influence of the environment on this basically biological disorder is difficult to ascertain, particularly when TS is complicated by comorbidities. Among the many questions that remain unresolved are the differential impact of positive and negative events and specific subtypes of events, and the importance of major crucial events relative to minor daily ones to tic severity. To examine the relationships between life events, tic severity and comorbid disorders in Tourette Syndrome (TS), including OCD, ADHD, anxiety, depression and rage attacks. Life events were classified by quantity, quality (positive or negative) and classification types of events (family, friends etc.). Sixty patients aged 7-17 years with Tourette syndrome or a chronic tic disorder were recruited from Psychological Medicine Clinic in Schneider Children's Medical Center of Israel. Yale Global Tic Severity Scale; Children's Yale Brown Obsessive Compulsive Scale; Life Experiences Survey; Brief Adolescent Life Events Scale; Screen for Child Anxiety Related Emotional Disorders; Child Depression Inventory/Beck Depression Inventory; ADHD Rating Scale IV; Overt Aggression Scale. Regarding tics and minor life events, there was a weak but significant correlation between severity of motor tics and the quantity of negative events. No significant correlation was found between tic severity and quantity of positive events. Analysis of the BALES categories yielded a significant direct correlation between severity of vocal tics and quantity of negative events involving friends. Regarding comorbidities and minor life events, highly significant correlations were found with depression and anxiety. Regarding tics and major life events, significant correlation was found between the quantity of major life events and the severity of motor tics, but not vocal tics. Regarding comorbidities and major life events, significant correlation was found between the severity of compulsions, ADHD, and aggression and the subjects' personal evaluation of the effect of negative major life events on their lives. Minor life events appear to be correlated with tic severity and comorbidities in children and adolescents with Tourette syndrome. The lack of an association between major life events and tic severity further emphasizes the salient impact of minor life events that occur in temporal proximity to the assessment of tic severity. Clinically, the results match our impression from patient narratives wherein they "blamed" the exacerbations in tics on social interactions. The high correlation between negative life events and depression, anxiety and compulsions symptoms, were reported also in previous studies. In conclusion, These findings may have clinical implications for planning supportive psychotherapy or cognitive behavioral therapy for this patient population. Copyright © 2013 Elsevier Inc. All rights reserved.

Deep brain stimulation for the obsessive-compulsive and Tourette-like symptoms of Kleefstra syndrome.

PubMed

Segar, David J; Chodakiewitz, Yosef G; Torabi, Radmehr; Cosgrove, G Rees

2015-06-01

Deep brain stimulation (DBS) has been reported to have beneficial effects in severe, treatment-refractory cases of obsessive-compulsive disorder (OCD) and Tourette syndrome (TS). In this report, the authors present the first case in which DBS was used to treat the neuropsychiatric symptoms of Kleefstra syndrome, a rare genetic disorder characterized by childhood hypotonia, intellectual disability, distinctive facial features, and myriad psychiatric and behavioral disturbances. A 24-year-old female patient with childhood hypotonia, developmental delay, and diagnoses of autism spectrum disorder, OCD, and TS refractory to medical management underwent the placement of bilateral ventral capsule/ventral striatum (VC/VS) DBS leads, with clinical improvement. Medical providers and family observed gradual and progressive improvement in the patient's compulsive behaviors, coprolalia, speech, and social interaction. Symptoms recurred when both DBS electrodes failed because of lead fracture and dislodgement, although the clinical benefits were restored by lead replacement. The symptomatic and functional improvements observed in this case of VC/VS DBS for Kleefstra syndrome suggest a novel indication for DBS worthy of further investigation.

Tourette Syndrome

MedlinePlus

... affects a person's central nervous system and causes tics (movements or sounds that a person can't ... over and over). There are two kinds of tics — motor tics and vocal tics . Motor tics are ...

Tourette Syndrome (TS): Treatments

MedlinePlus

... is important to understand that even though behavioral therapies might help reduce the severity of tics, this does not mean that tics are just psychological or that anyone with tics should be able ...

Tourette Syndrome (TS): Risk Factors and Causes

MedlinePlus

... span class="tp-sr-only">Submit Button Submit Button Tics, Tourette Syndrome, and OCD

MedlinePlus

... AAP Find a Pediatrician Health Issues Conditions Abdominal ADHD Allergies & Asthma Autism Cancer Chest & Lungs Chronic Conditions ... In children who eventually develop tic disorders and ADHD, the ADHD usually develops 2 to 3 years ...

Air swallowing as a tic.

PubMed

Weil, Rimona S; Cavanna, Andrea E; Willoughby, John M T; Robertson, Mary M

2008-11-01

The authors present a patient with Gilles de la Tourette syndrome who developed abdominal distension and bloating due to air swallowing. We suggest that this air swallowing may have been due to a tic.

Genetics Home Reference: Tourette syndrome

MedlinePlus

... Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, Dure LS ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Subscribe Customer Support USA. ...

De Novo Coding Variants Are Strongly Associated with Tourette Disorder.

PubMed

Willsey, A Jeremy; Fernandez, Thomas V; Yu, Dongmei; King, Robert A; Dietrich, Andrea; Xing, Jinchuan; Sanders, Stephan J; Mandell, Jeffrey D; Huang, Alden Y; Richer, Petra; Smith, Louw; Dong, Shan; Samocha, Kaitlin E; Neale, Benjamin M; Coppola, Giovanni; Mathews, Carol A; Tischfield, Jay A; Scharf, Jeremiah M; State, Matthew W; Heiman, Gary A

2017-05-03

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] 2.32, p = 0.002). Additionally, de novo damaging variants (LGD and probably damaging missense) are overrepresented in probands (RR 1.37, p = 0.003). We identify four likely risk genes with multiple de novo damaging variants in unrelated probands: WWC1 (WW and C2 domain containing 1), CELSR3 (Cadherin EGF LAG seven-pass G-type receptor 3), NIPBL (Nipped-B-like), and FN1 (fibronectin 1). Overall, we estimate that de novo damaging variants in approximately 400 genes contribute risk in 12% of clinical cases. VIDEO ABSTRACT. Copyright © 2017 Elsevier Inc. All rights reserved.

A Review of the Neuropsychological Dimensions of Tourette Syndrome

PubMed Central

Leclerc, Julie B.; Valois, Philippe; O’Connor, Kieron P.; Gauthier, Bruno

2017-01-01

Neurocognitive functioning in Tourette syndrome (TS) has been the subject of intensive research in the past 30 years. A variety of impairments, presumably related to frontal and frontostriatal dysfunctions, have been observed. These impairments were found in various domains, such as attention, memory, executive functions, language, motor and visuomotor functions, among others. In line with contemporary research, other neurocognitive domains have recently been explored in TS, bringing evidence of altered social reasoning, for instance. Therefore, the aims of this review are to give an overview of the neuropsychological dimensions of TS, to report how neuropsychological functions evolve from childhood to adulthood, and to explain how various confounding factors can affect TS patients’ performance in neuropsychological tasks. Finally, an important contribution of this review is to show how recent research has confirmed or changed our beliefs about neuropsychological functioning in TS. PMID:28820427

Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette Syndrome

PubMed Central

Nagai, Yoko

2015-01-01

This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of epileptic seizures is largely overlooked. Emotional stimuli such as anxiety and stress are potent causes of seizures and tic activity in epilepsy and TS, respectively. This manuscript will describe a possible neural mechanism by which afferent autonomic projections linked to cognition and behavior influence central thalamo-cortical regulation, which appears to be an important means for controlling both seizure and tic activity. It also summarizes the link between the integrity of the default mode network and autonomic regulation in patients with epilepsy as well as the link between impaired motor control and autonomic regulation in patients with TS. Two neurological conditions; epilepsy and TS were chosen, as seizures and tics represent parameters that can be easily measured to investigate influences of autonomic functions. The EDA biofeedback approach is anticipated to gain a strong position within the next generation of treatment for epilepsy, as a non-invasive technique with minimal side effects. This approach also takes advantage of the current practical opportunity to utilize growing digital health technology. PMID:26441491

Modulation of autonomic activity in neurological conditions: Epilepsy and Tourette Syndrome.

PubMed

Nagai, Yoko

2015-01-01

This manuscript considers the central but neglected role of the autonomic nervous system in the expression and control of seizures in epilepsy (small) and tics in Tourette Syndrome (TS). In epilepsy, consideration of autonomic involvement is typically confined to differential diagnoses (e.g., syncope), or in relation to Sudden Unexpected Death in Epilepsy (SUDEP). Investigation is more limited in Tourette Syndrome. The role of the autonomic nervous system in the generation and prevention of epileptic seizures is largely overlooked. Emotional stimuli such as anxiety and stress are potent causes of seizures and tic activity in epilepsy and TS, respectively. This manuscript will describe a possible neural mechanism by which afferent autonomic projections linked to cognition and behavior influence central thalamo-cortical regulation, which appears to be an important means for controlling both seizure and tic activity. It also summarizes the link between the integrity of the default mode network and autonomic regulation in patients with epilepsy as well as the link between impaired motor control and autonomic regulation in patients with TS. Two neurological conditions; epilepsy and TS were chosen, as seizures and tics represent parameters that can be easily measured to investigate influences of autonomic functions. The EDA biofeedback approach is anticipated to gain a strong position within the next generation of treatment for epilepsy, as a non-invasive technique with minimal side effects. This approach also takes advantage of the current practical opportunity to utilize growing digital health technology.

Jumping Frenchmen, Miryachit, and Latah: Culture-Specific Hyperstartle-Plus Syndromes.

PubMed

Lanska, Douglas J

2018-01-01

In the late 19th century, jumping (French Canadians in Maine, USA), miryachit (Siberia), and latah (Southeast Asia) were among a group of similar disorders described around the world, each of which manifests as an exaggerated startle response with additional late-response features that were felt by some to overlap with hysteria or tics. The later features following the exaggerated startle reaction variably include mimesis (e.g., echopraxia, echolalia) and automatic obedience. These reaction patterns tended to persist indefinitely in affected individuals. Because of their dramatic stimulus-driven behaviors, affected individuals were prone to be teased and tormented by being repeatedly and intentionally startled. Despite clinical overlap between jumping and Tourette syndrome, these entities are now recognized as distinct: in jumping, the key feature is an abnormal startle response, the abnormal reaction is always provoked, and tics are absent, whereas in Tourette syndrome, the key feature is spontaneous motor and vocal tics, although patients with Tourette syndrome may occasionally also have an exaggerated startle response. These disorders have been conceptualized from anthropological, psychodynamic, and neurobiologic perspectives, with no complete resolution to date. Attempts at treatment have been generally unsuccessful, including attempts with bromization and hypnosis, although anecdotal reports of successful deconditioning have been published. In population groups affected, these disorders are usually considered as behavioral peculiarities and not as diseases per se, and there is no apparent tendency to develop disabling mental illness or neurodegenerative disorders. The genesis of these disorders, their cultural and social components, and their interactions with the presumed underlying physiological substrate need further study. Careful descriptive and analytic epidemiological studies are also lacking for all of these disorders. © 2018 S. Karger AG, Basel.

Use of Botulinum Neurotoxin for the Treatment of Movement Disorders

MedlinePlus

... spasmodic dysphonia, or ABSD). Does BoNT control motor tics? Tics associated with Tourette syndrome are relatively brief, intermittent movements (also known as motor tics) or sounds (also known as vocal or phonic ...

Tourette Syndrome

MedlinePlus

... and arranging. People with TS have also reported problems with depression or anxiety disorders, as well as other difficulties ... possible that neurobehavioral disorders such as ADHD, OCD, depression, generalized ... with TS? Although students with TS often function well in the regular ...

Outcomes of Cognitive Behavioral Therapy (CBT) Interventions Provided by Unlicensed Professionals

ClinicalTrials.gov

2018-05-04

Obsessive Compulsive Disorder; Body Dysmorphic Disorder; Tourette Syndrome; Trichotillomania; Panic Disorder; Social Phobia; Generalized Anxiety Disorder; Depression; Post-Traumatic Stress Disorder; Attention Deficit Hyperactivity Disorder; Eating Disorder; Specific Phobia; General Medical Condition

Factitious Disorder Presenting with Stuttering in Two Adolescents: The Importance of Psychoeducation.

PubMed

Bolat, Nurullah; Yalçin, Özhan

2017-03-01

A factitious disorder (FD) is a diagnostic entity in which patients intentionally act physically or mentally ill without obvious benefits and without being consciously aware of a clear underlying motive. Most pediatric FD cases have been reported as Munchausen syndrome by Proxy; however, pediatric disease symptoms can also be intentionally falsified by child and adolescent patients. To our knowledge, in the medical literature, an FD patient presenting with stuttering has not been previously reported. In this case report, we aimed to discuss the diagnosis and treatment process of FDs in children and adolescents by reporting the cases of two FD patients presenting with stuttering according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition. Both patients improved with psychoeducation and early confrontation.

Communication Problems in Turner Syndrome: A Sample Survey.

ERIC Educational Resources Information Center

Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

1999-01-01

A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

Is it a tic or Tourette's? Clues for differentiating simple from more complex tic disorders.

PubMed

Evidente, V G

2000-10-01

Tics are characterized by sterotyped, purposeless, and irregularly repetitive movements and usually can be classified as chronic motor or vocal tic disorders, transient tic disorders, or Tourette's syndrome. The latter is a complex disorder associated with multiple tics and often accompanied by other conditions, such as ADHD and obsessive-compulsive disorder. Treatment can be difficult, and drug therapy should begin with agents least likely to cause problems for the patient. Education of the patient and family and support from the physician and other care providers are essential elements of effective management.

The influence of different food and drink on tics in Tourette syndrome.

PubMed

Müller-Vahl, Kirsten R; Buddensiek, Nadine; Geomelas, Menedimos; Emrich, Hinderk M

2008-04-01

Tourette syndrome (TS) is characterized by waxing and waning motor and vocal tics. Because standard medication often remains unsatisfactory, many patients seek alternative medicine. The aim of this study was to increase experience about the influence of food and drinks in TS. A standardized questionnaire was sent to 887 people recruited from our Tourette outpatient clinic and the German TS self-aid group. Respondents should assess whether 32 different foods influenced their tics. Two hundred twenty-four questionnaires could be used for analyses. A significant positive correlation (tic deterioration) was found for caffeine- and theine-containing drinks such as coke (p<0.001), coffee (p<0.001) and black tea (p<0.001) as well as for preserving agents (p<0.001), refined sugar (p<0.001) and sweeteners (p<0.001). A significant negative correlation (tic improvement) was not found. Results from this first survey investigating the influence of special foods and drinks on tics demonstrated that 34% and 47% of responders, respectively, assessed that coffee and coke deteriorate tics. It, therefore, can be speculated that caffeine may further stimulate an already overactive dopaminergic system in TS and thus increases tics. However, from these preliminary data, no further general recommendations regarding special diets and food restrictions can be made.

Use of Operational Criteria in an Office Practice for Diagnosis of Children Referred for Evaluation of Learning or Behavior Disorders.

ERIC Educational Resources Information Center

Brumback, Roger A.

1979-01-01

Operational criteria for childhood depression, specific learning disability, developmental hyperactivity, and Gilles de la Tourette syndrome were used to establish the correct diagnosis in 55 of 100 school age Ss. Forty-five Ss were diagnosed as having one of three classical neurological syndromes (epilepsy, sensorineural deafness, and childhood…

Collaborative Academic Research Efforts for Tourette Syndrome Act of 2012

THOMAS, 112th Congress

Sen. Menendez, Robert [D-NJ

2012-04-19

Senate - 04/19/2012 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Collaborative Academic Research Efforts for Tourette Syndrome Act of 2014

THOMAS, 113th Congress

Sen. Menendez, Robert [D-NJ

2014-09-18

Senate - 09/18/2014 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Collaborative Academic Research Efforts for Tourette Syndrome Act of 2013

THOMAS, 113th Congress

Sen. Menendez, Robert [D-NJ

2013-03-21

Senate - 03/21/2013 Read twice and referred to the Committee on Health, Education, Labor, and Pensions. (All Actions) Tracker: This bill has the status IntroducedHere are the steps for Status of Legislation:

Tourette Syndrome (TS): Other Concerns and Conditions

MedlinePlus

... with friends. Learn more about ADHD » Obsessive-Compulsive Behaviors People with obsessive-compulsive behaviors have unwanted thoughts ( ... compulsive behaviors. Diagnosing OCD » Learn more about OCD » Behavior or Conduct Problems About 1 in 4 children ...

[Investigation of childhood neuropsychiatric disorders in adults often desirable. Functional disabilities can result in social maladjustment].

PubMed

Nylander, Lena; Holmqvist, Maria; Zettervall, Kerstin

2002-04-11

So-called child neuropsychiatric disorders (ADHD/DAMP, autism spectrum disorders, Tourette's syndrome) are being recognized with increasing frequency in child and adolescent psychiatry. Through follow-up studies, case reports and autobiographical accounts it has become evident that these disorders often persist into adulthood, and the need for diagnostic evaluation of adults is increasing. The Neuropsychiatric Diagnostic Team for Adults in Lund, Sweden, was established in 1998 to meet this need. 228 adults, mostly 18-30 years old, have completed the diagnostic process, resulting in one of the above-mentioned diagnoses in 64%. 80 patients had ADHD/DAMP, 59 had autism spectrum disorders and 7 had Tourette's syndrome. The diagnostic process involves clinical interviews and observation, neuropsychological evaluation and, if possible, a parent interview. So far, the impact on quality of life of a child neuropsychiatric diagnosis received in adulthood is not known. Follow-up studies are needed.

Cervical spondylotic myelopathy caused by violent motor tics in a child with Tourette syndrome.

PubMed

Ko, Da-Young; Kim, Seung-Ki; Chae, Jong-Hee; Wang, Kyu-Chang; Phi, Ji Hoon

2013-02-01

We report a case of a 9-year-old boy with Tourette syndrome (TS) who developed progressive quadriparesis that was more severe in the upper extremities. He had experienced frequent and violent motor tics consisting of hyperflexion and hyperextension for years. Magnetic resonance imaging (MRI) revealed a focal high-signal intensity cord lesion and adjacent cervical spondylotic changes. Initially, the patient was observed for several months because of diagnostic uncertainty; his neurological status had improved and later worsened again. Anterior cervical discectomy of C3-4 and fusion immediately followed by posterior fixation were performed. After surgery, the neck collar was applied for 6 months. His neurological signs and symptoms improved dramatically. TS with violent neck motion may cause cervical spondylotic myelopathy at an early age. The optimal management is still unclear and attempts to control tics should be paramount. Circumferential fusion with neck bracing represents a viable treatment option.

Visual feedback of own tics increases tic frequency in patients with Tourette's syndrome.

PubMed

Brandt, V C; Lynn, M T; Obst, M; Brass, M; Münchau, A

2015-01-01

Gilles de la Tourette syndrome (GTS) is characterized by motor and phonic tics. It is unknown how paying attention to one's own tics might modulate tic frequency. We determined tic frequency in freely ticcing GTS patients while they were being filmed. In Study 1, we investigated 12 patients (1) alone in a room (baseline); (2) alone in front of a mirror. In Study 2, we replicated these conditions in 16 patients and additionally examined how watching a video, in which the individual was shown not ticcing, affected their tic frequency. In both studies, tic frequency was significantly higher when patients watched themselves in a mirror compared to baseline. In contrast, tic frequency was significantly reduced in the video condition. Paying attention to one's own tics increases tic frequency when tics are not suppressed and appears to be specific for attention to tics, rather than attention to the self.

The Subjective Quality of Life in Young People With Tourette Syndrome in China.

PubMed

Liu, Shiguo; Zheng, Lanlan; Zheng, Xueping; Zhang, Xinhua; Yi, Mingji; Ma, Xu

2017-03-01

To explore the subjective quality of life (QoL) in children with Tourette Syndrome (TS) in China to provide a basis for more effective interference. A total of 107 patients and 107 controls were enrolled. Subjective QoL was investigated by Inventory of Subjective Life Quality, Family Environment Scale of Chinese Version, and the Yale Global Tic Severity Scale, and a case-control study was performed. The total score of subjective QoL and family life, school life, peer relationship, cognitive component, environment, self-awareness, cognitive component and depression experience in the TS were lower than control. Patients with co-morbid exhibited significantly lower scores within the subjective QoL family life, peer relationship, school life, self-awareness, and cognitive affective domains. The subjective QoL is impaired and it is important to control clinical symptoms and improve family environment for the improvement of the subjective QoL in TS.

A Qualitative Exploration of the Experiences of Children and Adolescents with Tourette Syndrome

PubMed Central

Edwards, Kim R.; Mendlowitz, Sandra; Jackson, Elana; Champigny, Claire; Specht, Matt; Arnold, Paul; Gorman, Daniel; Dimitropoulos, Gina

2017-01-01

Objective The purpose of this qualitative study was to explore the experiences of youth with Tourette Syndrome (TS). Method Thirteen participants with TS were recruited from a large tertiary care hospital to complete semi-structured interviews and two questionnaires pertaining to demographic information and tic severity. Thematic analysis was utilized to systematically analyze the data. Results Three main themes were identified: 1) beliefs about TS; 2) TS related distress and impairment; and, 3) coping with TS. Conclusion The findings from this study suggest that most participants were aware of their tics but unaware of the cause of tics/TS. The interviews also highlighted that, for most participants, TS caused emotional, social, physical, and/or occupational impairment. Despite their distress, participants provided several suggestions for coping with TS and for supporting those who are diagnosed with this condition. PMID:28331502

Tourette syndrome in children and adolescents: special considerations.

PubMed

Eapen, Valsamma; Crncec, Rudi

2009-12-01

Tourette syndrome (TS) affects people of all ages, with onset in early childhood and continuing through the different stages of the life cycle into adolescence and adults. This review focuses on barriers to diagnosis and challenges in the management of young patients with TS. Barriers to identification occur at multiple levels, including detection in the community setting (including schools), parents' help-seeking behavior, and cultural influences on such behavior, as well as diagnosis by the medical provider. Challenges to management include unfamiliarity of primary care providers, inconsistencies in the diagnosis and management plan, and failure to recognize comorbid conditions, as well as inadequate knowledge and lack of resources to effectively deal with comorbidities. In addition to the complexities posed by pharmacological interactions, there are unique psychosocial challenges experienced by young people with TS and their families. Effective communication and collaboration between families, health care providers, and school personnel, as well as supportive communities, are essential components of comprehensive management.

Interhemispheric Connectivity and Executive Functioning in Adults With Tourette Syndrome

PubMed Central

Margolis, Amy; Donkervoort, Mireille; Kinsbourne, Marcel; Peterson, Bradley S.

2008-01-01

The prefrontal cortex (PFC) is relatively smaller, and the corpus callosum (CC) larger, in adults with Tourette syndrome (TS). The authors explored the possible roles of the PFC and the CC in mediating interhemispheric interference and coordination in TS adults. They measured performance on M. Kinsbourne and J. Cook's (1971) verbal–manual interference task and on the bimanual Purdue Pegboard in 38 adults with TS and 34 healthy adults. Compared with controls, TS subjects were impaired on the bimanual Purdue Pegboard. On the dual task, right-hand performance did not differ between groups, but the normally expected left-hand advantage (opposite hemisphere condition) was absent in TS subjects. In the control group only, better left-hand performance accompanied larger PFC volumes but not CC cross-sectional area. PFC dysfunction might have precluded executive control of interference in the TS group. PMID:16460223

Oligoclonal bands in cerebrospinal fluid in patients with Tourette's syndrome.

PubMed

Wenzel, Claudia; Wurster, Ulrich; Müller-Vahl, Kirsten R

2011-02-01

Since a postinfectious or autoimmune etiology is suggested to be involved in the pathogenesis of Tourette's syndrome (TS), we investigated oligoclonal bands (OB) of immunoglobulin G (IgG) in cerebrospinal fluid (CSF), indicating a humoral immune response in the central nervous system. CSF examinations including isoelectric focusing to analyze the presence of OB were performed in 21 TS patients [17 men/4 women, mean age = 29 ± 12 (SD) years]. Isoelectric focusing showed the presence of positive OB in 6, borderline bands in 2, and serum and CSF bands ("mirrored pattern") in another 2 patients. Clinical data did not correlate with CSF findings. Thus, 38% (8 of 21) of our patients exhibited pathological CSF bands. Since none of them suffered from another disease known to be associated with OB, our results suggest an association with the pathogenesis of TS itself and point to an involvement of immunological mechanisms in TS pathology. Copyright © 2010 Movement Disorder Society.

Consanguineous Iranian Kindreds with Severe Tourette Syndrome

PubMed Central

Motlagh, Maria G.; Seddigh, Arshia; Dashti, Behnoosh; Leckman, James F.; Alaghband-Rad, Javad

2014-01-01

The search for vulnerability genes for Tourette syndrome has been ongoing for nearly three decades. The contribution of recessive loci with reduced penetrance is one possibility that has been difficult to explore. Homo-zygosity mapping has been successfully used to detect recessive loci within populations with high rates of consanguinity. Using this technique, even quite small inbred families can be informative due to autozygosity in which the two alleles at an autosomal locus are identical by descent (i.e., copies of a single ancestral gene). To explore the utility of this approach, we identified 12 consanguineous Iranian families. Remarkably, these families were seen with an unusual natural history characterized by the early onset of vocal tics and coprolalia and frequent comorbidity with obsessive-compulsive disorder. Genotyping the affected and unaffected members of these pedigrees has the potential to identify rare recessive contributions to this disorder. PMID:18785237

Tourette's syndrome in famous musicians.

PubMed

Camargo, Carlos Henrique F; Bronzini, Augusto

2015-12-01

Tourette's syndrome (TS) is defined as a disorder characterized by multiple motor tics and at least one vocal tic that have lasted for not less than one year. It is a relatively complex neurobehavioral disorder, in which patients may present with coexistent attention deficit hyperactivity disorder, obsessive-compulsive disorder or other behavioral comorbidities. The musical genius Wolfgang Amadeus Mozart (1756-1791) and the rock star Kurt Cobain (1967-1994) may both have suffered from TS, and some contemporary musicians have had their clinical condition confirmed as TS. Our hypothetical diagnosis of TS in Mozart and Cobain is based on the presence of tics and psychiatric comorbidities. In contemporary musicians, such as Michael Wolff, Nick Van Bloss and James Durbin, TS has often only been diagnosed after a considerable delay. This delay in diagnosis and the controversies surrounding the clinical case of Mozart show how difficult a confirmatory diagnosis of this complex disease is.

Understanding the impact of diet and nutrition on symptoms of Tourette syndrome: A scoping review.

PubMed

Ludlow, Amanda K; Rogers, Samantha L

2018-03-01

Anecdotal reports frequently suggest some dietary involvement in the maintenance of tics in children with Tourette syndrome (TS). This scoping review aimed to (1) understand the possible influence of diet as a trigger of tics and (2) map out the existing studies documenting dietary interventions in children with TS. Current evidence suggests no single diet to benefit individuals with TS. However, reports from parents of children with TS suggest that certain allergens in food may exacerbate tic-related symptoms. For example, an increase in tics has been related to the consumption of caffeine and refined sugar. Moreover, oligoantigenic diets and sugar-free diets have been identified as significantly reducing tics. More research is urgently needed to develop more accurate guidance for parents and children with TS, as many have reported using dietary and nutritional supplements, despite the lack of evidence detailing any benefits, side effects and recommended doses.

Exposure with response prevention versus habit reversal in Tourettes's syndrome: a controlled study.

PubMed

Verdellen, Cara W J; Keijsers, Ger P J; Cath, Danielle C; Hoogduin, Cees A L

2004-05-01

The intentional nature of tics provides the opportunity to apply behavioural interventions aimed at tic reduction through interruption of stimulus-response sequences. The aim of this study has been to evaluate the effect of exposure and response prevention (ER) versus habit reversal (HR) in 43 Tourette's syndrome (TS) patients. The three outcome measures were: the Yale Global Tic Severity Scale (YGTSS), 15-min tic frequency registrations monitored at the institute and 15-min home tic frequency registrations. Both treatment conditions resulted in statistically significant improvements on all outcome measures (p < 0.001). No significant differences were found between the treatment conditions on any of the outcome measures, although there was a tendency in favour of ER on the YGTSS (p = 0.05). These results suggest that, at least in the short term, TS tic symptoms can be treated effectively with both types of treatment.

Fine motor skills in adult Tourette patients are task-dependent.

PubMed

Neuner, Irene; Arrubla, Jorge; Ehlen, Corinna; Janouschek, Hildegard; Nordt, Carlos; Fimm, Bruno; Schneider, Frank; Shah, N Jon; Kawohl, Wolfram

2012-10-11

Tourette syndrome is a neuropsychiatric disorder characterized by motor and phonic tics. Deficient motor inhibition underlying tics is one of the main hypotheses in its pathophysiology. Therefore the question arises whether this supposed deficient motor inhibition affects also voluntary movements. Despite severe motor tics, different personalities who suffer from Tourette perform successfully as neurosurgeon, pilot or professional basketball player. For the investigation of fine motor skills we conducted a motor performance test battery in an adult Tourette sample and an age matched group of healthy controls. The Tourette patients showed a significant lower performance in the categories steadiness of both hands and aiming of the right hand in comparison to the healthy controls. A comparison of patients' subgroup without comorbidities or medication and healthy controls revealed a significant difference in the category steadiness of the right hand. Our results show that steadiness and visuomotor integration of fine motor skills are altered in our adult sample but not precision and speed of movements. This alteration pattern might be the clinical vignette of complex adaptations in the excitability of the motor system on the basis of altered cortical and subcortical components. The structurally and functionally altered neuronal components could encompass orbitofrontal, ventrolateral prefrontal and parietal cortices, the anterior cingulate, amygdala, primary motor and sensorimotor areas including altered corticospinal projections, the corpus callosum and the basal ganglia.

Serotoninergic agents in the treatment of Gilles de la Tourette's syndrome.

PubMed

Silvestri, R; Raffaele, M; De Domenico, P; Tisano, A; Laganà, A; Di Perri, R

1994-01-01

A preliminary trial with fluoxetine, a 5-HT reuptake inhibitor, was carried out on two young male patients (21 and 32 years old) affected by Gilles de la Tourette syndrome. They both underwent a complete neurological evaluation also including neuroradiological, neurophysiological and neuropsychological assessment. Both patients had already been treated with benzodiazepines and amitriptyline; the older one was also given haloperidol and chlorimipramine with definite, but short-lasting improvement. During hospitalization a therapeutic trial with fluoxetine (20 mg/day in the younger patient and 40 mg/day in the older) in association with chlorimipramine (75 mg/day) was initiated, leading to a significant reduction (at least 50%) of abnormal movements and obsessive-compulsive behaviour. The older patient had no side effects while the 21 year old subject complained of insomnia, urinary retention and anorexia; despite the objective improvement, these side effects led us to modify the therapy after the first month. The favourable action of serotoninergic agents on TS symptoms supports the hypothesis that the multiple tics of the syndrome are motor compulsions.

Impact of Tourette Syndrome on School Measures in a Nationally Representative Sample.

PubMed

Claussen, Angelika H; Bitsko, Rebecca H; Holbrook, Joseph R; Bloomfield, Jeanette; Giordano, Kathy

2018-05-01

Children with Tourette syndrome (TS) are at risk for a variety of co-occurring conditions and learning and school problems. The purpose of this study was to determine the impact of TS and co-occurring conditions on school measures. Parent-reported data from the 2007-2008 and 2011-2012 National Survey of Children's Health were combined (n = 129,353 children aged 6-17 yrs). Parent report of health care provider diagnosis of TS; co-occurring mental, emotional, and behavioral conditions; learning and language conditions; and school measures were assessed. School measures included type of school, individual education plan (IEP), number of school days missed, school problems, doing well in school, doing homework, and repeating a grade. Children with TS were compared with those who never had TS on school measures accounting for co-occurring conditions. After adjusting for demographics, compared with children without TS, children currently with TS were more likely to have an IEP, have a parent contacted about school problems, and not complete homework. After further adjusting for co-occurring conditions, only IEP status remained statistically significant. Compared with children with mild TS, children with moderate or severe TS were more likely to have an IEP, repeat a grade, encounter school problems, and not care about doing well in school. Tourette syndrome severity and co-occurring conditions are associated with school challenges and educational service needs. Awareness among health care providers, teachers and parents of the potential challenges related to both TS and co-occurring conditions would help to best support the child's education.

Systematic screening for mutations in the promoter and the coding region of the 5-HT{sub 1A} gene

DOE Office of Scientific and Technical Information (OSTI.GOV)

Erdmann, J.; Shimron-Abarbanell, D.; Cichon, S.

1995-10-09

In the present study we sought to identify genetic variation in the 5-HT{sub 1A} receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette`s syndrome, as well as 25 healthy controls) were investigated by single-strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5{prime} untranslated region of the 5-HT{sub 1A} gene. The region upstream to the coding sequence we investigated contains amore » functional promoter. We found two rare nucleotide sequence variants. Both mutations are located in the coding region of the gene: a coding mutation (A{yields}G) in nucleotide position 82 which leads to an amino acid exchange (Ile{yields}Val) in position 28 of the receptor protein and a silent mutation (C{yields}T) in nucleotide position 549. The occurrence of the Ile-28-Val substitution was studied in an extended sample of patients (n = 352) and controls (n = 210) but was found in similar frequencies in all groups. Thus, this mutation is unlikely to play a significant role in the genetic predisposition to the diseases investigated. In conclusion, our study does not provide evidence that the 5-HT{sub 1A} gene plays either a major or a minor role in the genetic predisposition to schizophrenia, bipolar affective disorder, or Tourette`s syndrome. 29 refs., 4 figs., 1 tab.« less

"Hyperglutamatergic cortico-striato-thalamo-cortical circuit" breaker drugs alleviate tics in a transgenic circuit model of Tourette׳s syndrome.

PubMed

Nordstrom, Eric J; Bittner, Katie C; McGrath, Michael J; Parks, Clinton R; Burton, Frank H

2015-12-10

The brain circuits underlying tics in Tourette׳s syndrome (TS) are unknown but thought to involve cortico/amygdalo-striato-thalamo-cortical (CSTC) loop hyperactivity. We previously engineered a transgenic mouse "circuit model" of TS by expressing an artificial neuropotentiating transgene (encoding the cAMP-elevating, intracellular A1 subunit of cholera toxin) within a small population of dopamine D1 receptor-expressing somatosensory cortical and limbic neurons that hyperactivate cortico/amygdalostriatal glutamatergic output circuits thought to be hyperactive in TS and comorbid obsessive-compulsive (OC) disorders. As in TS, these D1CT-7 ("Ticcy") transgenic mice׳s tics were alleviated by the TS drugs clonidine and dopamine D2 receptor antagonists; and their chronic glutamate-excited striatal motor output was unbalanced toward hyperactivity of the motoric direct pathway and inactivity of the cataleptic indirect pathway. Here we have examined whether these mice׳s tics are countered by drugs that "break" sequential elements of their hyperactive cortical/amygdalar glutamatergic and efferent striatal circuit: anti-serotonoceptive and anti-noradrenoceptive corticostriatal glutamate output blockers (the serotonin 5-HT2a,c receptor antagonist ritanserin and the NE alpha-1 receptor antagonist prazosin); agmatinergic striatothalamic GABA output blockers (the presynaptic agmatine/imidazoline I1 receptor agonist moxonidine); and nigrostriatal dopamine output blockers (the presynaptic D2 receptor agonist bromocriptine). Each drug class alleviates tics in the Ticcy mice, suggesting a hyperglutamatergic CSTC "tic circuit" could exist in TS wherein cortical/amygdalar pyramidal projection neurons׳ glutamatergic overexcitation of both striatal output neurons and nigrostriatal dopaminergic modulatory neurons unbalances their circuit integration to excite striatothalamic output and create tics, and illuminating new TS drug strategies. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

Acute management of priapism in men.

PubMed

Tay, Yeng K; Spernat, Daniel; Rzetelski-West, Kathryn; Appu, Sree; Love, Chris

2012-04-01

What's known on the subject? and What does the study add? Priapism is a rare event. However, various medications and medical conditions may increase the risk. Priapism can be ischaemic, non-ischaemic or stuttering. It is paramount to distinguish the type of priapism, as misdiagnosis may lead to significant morbidity. Ischaemic priapism represents a compartment syndrome of the penis and is therefore a medical emergency. A delay in management may significantly affect future erectile function. Stuttering priapism represents recurrent subacute episodes of ischaemic priapism, which may lead to erectile dysfunction. Thus episodes must be minimised. Non-ischaemic priapism is not a medical emergency. However, misdiagnosis and injection with sympathomimetic agents can result in system absorption and toxicity. This review article provides a summary of the evaluation and management of priapism. Furthermore, a step by step flow chart is provided to guide the clinician through the assessment and management of this complex issue. To review the literature regarding ischaemic, non-ischaemic and stuttering priapism. To provide management recommendations. A Medline search was carried out to identify all relevant papers with management guidelines for priapism. Ischaemic priapism represents a compartment syndrome of the penis and urgent intervention is required to decrease the risk of erectile dysfunction. Non-ischaemic priapism is not a medical emergency; however, it can result in erectile dysfunction. The treatment objective for stuttering priapism is to reduce future episodes with systemic treatments, whilst treating each ischaemic episode as an emergency. Priapism is a complex condition that requires expert care to prevent complications and irreversible erectile dysfunction. © 2012 THE AUTHOR. BJU INTERNATIONAL © 2012 BJU INTERNATIONAL.

Identification of genetic markers associated with Gilles de la Tourette syndrome in an Afrikaner population.

PubMed Central

Simonic, I; Gericke, G S; Ott, J; Weber, J L

1998-01-01

Because gene-mapping efforts, using large kindreds and parametric methods of analysis, for the neurologic disorder Tourette syndrome have failed, efforts are being redirected toward association studies in young, genetically isolated populations. The availability of dense marker maps makes it feasible to search for association throughout the entire genome. We report the results of such a genome scan using DNA samples from Tourette patients and unaffected control subjects from the South African Afrikaner population. To optimize mapping efficiency, we chose a two-step strategy. First, we screened pools of DNA samples from both affected and control individuals, using a dense collection of 1,167 short tandem-repeat polymorphisms distributed throughout the genome. Second, we typed those markers displaying evidence of allele frequency-distribution shifts, along with additional tightly linked markers, using DNA from each affected and unaffected individual. To reduce false positives, we tested two independent groups of case and control subjects. Strongest evidence for association (P values 10-2 to 10-5) were obtained for markers within chromosomal regions encompassing D2S1790 near the chromosome 2 centromere, D6S477 on distal 6p, D8S257 on 8q, D11S933 on 11q, D14S1003 on proximal 14q, D20S1085 on distal 20q, and D21S1252 on 21q. PMID:9718333

Identification of genetic markers associated with Gilles de la Tourette syndrome in an Afrikaner population.

PubMed

Simonic, I; Gericke, G S; Ott, J; Weber, J L

1998-09-01

Because gene-mapping efforts, using large kindreds and parametric methods of analysis, for the neurologic disorder Tourette syndrome have failed, efforts are being redirected toward association studies in young, genetically isolated populations. The availability of dense marker maps makes it feasible to search for association throughout the entire genome. We report the results of such a genome scan using DNA samples from Tourette patients and unaffected control subjects from the South African Afrikaner population. To optimize mapping efficiency, we chose a two-step strategy. First, we screened pools of DNA samples from both affected and control individuals, using a dense collection of 1,167 short tandem-repeat polymorphisms distributed throughout the genome. Second, we typed those markers displaying evidence of allele frequency-distribution shifts, along with additional tightly linked markers, using DNA from each affected and unaffected individual. To reduce false positives, we tested two independent groups of case and control subjects. Strongest evidence for association (P values 10-2 to 10-5) were obtained for markers within chromosomal regions encompassing D2S1790 near the chromosome 2 centromere, D6S477 on distal 6p, D8S257 on 8q, D11S933 on 11q, D14S1003 on proximal 14q, D20S1085 on distal 20q, and D21S1252 on 21q.

Tourette syndrome in the context of evolution and behavioral ecology.

PubMed

Reser, Jared Edward

2017-02-01

Tourette syndrome, and the closely related spectrum of tic disorders, are inherited neuropsychiatric conditions characterized by the presence of repetitive and stereotyped movements. Tics are elicited by either environmental experiences or internal signals that instruct the basal ganglia to initiate automatic or procedural movements. In most vertebrates the basal ganglia encode instructions for habitually used sequences of motor movements that are essential to survival. Tic disorders may represent evolved phenotypes with a lower threshold for basal ganglia-directed actions. This may have produced a susceptibility to extraneous tics, but also produced fast-acting tactical solutions to immediate physical problems. During periods of nonstop movement, continual foraging, and sustained vigilance, it may have been advantageous to allow subcortical motor commands to intrude into ongoing motor activities. It is clear that the engrams for individual motor responses held in the basal ganglia are selected by converging cortical and subcortical inputs. This form of convergent action selection results in the selection of the most contextually reinforced actions. Today people with Tourette's have tics that seem arbitrary and inappropriate; however, this may be due to the vast discrepancies in reinforcement between the ancestral environment and the modern one. In prehistoric environments, the motor behaviors of individuals with tic disorders may have been appropriate in environmental context, and had ecological relevance in survival and self-promotion. Copyright © 2016. Published by Elsevier Ltd.

How do individuals with Asperger syndrome respond to nonliteral language and inappropriate requests in computer-mediated communication?

PubMed

Rajendran, Gnanathusharan; Mitchell, Peter; Rickards, Hugh

2005-08-01

Computer-mediated communication in individuals with Asperger syndrome, Tourette syndrome and normal controls was explored with a program called Bubble Dialogue (Gray, Creighton, McMahon, and Cunninghamn (1991)) in which the users type text into speech bubbles. Two scenarios, based on Happé (1994) were adapted to investigate understanding of figure of speech and sarcasm, and a third, developed by ourselves, looked at responses to inappropriate requests (lending money and disclosing home address on a first meeting). Dialogue transcripts were assessed by 62 raters who were blind to the clinical diagnoses. Hierarchical linear modelling revealed that rated understanding of a figure of speech was predicted mainly by verbal ability and executive ability, as well as by clinical diagnosis, whereas handling inappropriate requests was predicted by age, verbal ability, executive ability and diagnosis. Notably, the Tourette comparison group showed better understanding than the Asperger group in interpreting a figure of speech and handling inappropriate requests, and differences between these groups were possibly attributable to individual differences in executive ability. In contrast, understanding sarcasm was predicted by age but not by either verbal ability, executive ability or clinical diagnosis. Evidently, there is a complicated relation between Asperger syndrome, verbal ability and executive abilities with respect to communicative performance.

78 FR 35272 - Agency Forms Undergoing Paperwork Reduction Act Review

Federal Register 2010, 2011, 2012, 2013, 2014

2013-06-12

...); sickle cell disease (SCD); attention-deficit/hyperactivity disorder (ADHD); and Tourette syndrome. Birth... blood disorders. Identified priority diseases, disorders, and conditions included in this information collection activity include but are not limited to preconception health; autism spectrum disorders (ASDs) and...

78 FR 14553 - Proposed Data Collections Submitted for Public Comment and Recommendations

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-06

...; deep vein thrombosis/pulmonary embolism (DVT/PE); sickle cell disease (SCD); attention-deficit/hyperactivity disorder (ADHD); and Tourette syndrome. The Children's Health Act of 2000 required the... Defects and Developmental Disabilities, Human Development and Disabilities, and Blood Disorders--NEW...

Prenatal risk factors for Tourette Syndrome: a systematic review.

PubMed

Chao, Ting-Kuang; Hu, Jing; Pringsheim, Tamara

2014-01-30

Tourette Syndrome (TS) appears to be an inherited disorder, although genetic abnormalities have been identified in less than 1% of patients, and the mode of inheritance is uncertain. Many studies have investigated environmental factors that might contribute to the onset and severity of tics and associated comorbidities such as obsessive compulsive disorder (OCD) and attention deficit hyperactive disorder (ADHD). A systematic review and qualitative analysis were performed to provide a broad view of the association between pre- and perinatal factors and TS. The Medline, Embase and PsycINFO databases were searched using terms specific to Tourette's syndrome and keywords such as "pregnancy", "prenatal", "perinatal", "birth" and "neonatal". Studies were limited to studies on human subjects published in English or French through October 2012. 22 studies were included. Studies were of limited methodological quality, with most samples derived from specialty clinics, and most exposures ascertained retrospectively. The majority of the results for demographic factors of parents, including age, education, socioeconomic status, and marital status, revealed no significant association with the onset of TS, or the presence of comorbidity. Many factors were reported to be significantly associated with the onset of TS, the presence of comorbidity and symptom severity, but the most consistently reported factors were maternal smoking and low birth weight. There are few studies evaluating the relationship between pre and perinatal events and TS, and existing studies have major limitations, including the use of clinic rather than epidemiologically derived samples, retrospective data collection on pre and perinatal events and multiple hypothesis testing without appropriate statistical correction. The mechanism by which prenatal and perinatal adversities could lead to TS onset or symptom severity is unknown, but may be related to changes in the dopaminergic system as a result of early brain injury.

An epidemiologic study of Tourette's syndrome in a single school district.

PubMed

Comings, D E; Himes, J A; Comings, B G

1990-11-01

To evaluate the frequency of Gilles de la Tourette's syndrome (TS) in children, 3034 students in three schools in a single school district in greater Los Angeles were monitored frequently over a 2-year period by a school psychologist thoroughly familiar with the symptoms of the disorder. A portion of the cases were also evaluated in a TS clinic. A total of 14 males fulfilled the Tourette Syndrome Association research criteria for definite TS. When corrected for the number of students in special education classes in the monitored schools, the frequency of definite TS in males was 1 in 152. An additional 7 males who differed only in that they were not observed for a full year were termed definite TS less than 1 year. When the two groups were combined, the frequency of definite TS was 1 in 95 for males and 1 in 759 for females. These figures do not include an additional 10 males diagnosed as having definite transient tic disorder, 2 males diagnosed as having probable TS, and 10 males diagnosed as having possible TS. In addition to tics, most of these children had problems with attention span, obsessive compulsive behavior, and learning and/or conduct disorders. Seventy percent of the students with definite TS or definite TS less than 1 year were in special education classes. Twelve percent of the children in special education classes had definite TS or definite TS less than 1 year, and 28% were in one of the diagnostic categories of definite, probable, or possible. All of the 10 definite TS patients that were seen in the clinic had attention-deficit hyperactivity disorder.(ABSTRACT TRUNCATED AT 250 WORDS)

Clinical Assessment of Tourette Syndrome and Tic Disorders

PubMed Central

Cohen, Stephanie; Leckman, James F.; Bloch, Michael H.

2013-01-01

Tourette Syndrome (TS) is a neuropsychiatric disorder involving multiple motor and phonic tics. Tics, which usually begin between the ages of 6 and 8, are sudden, rapid, stereotyped, and apparently purposeless movements or sounds that involve discrete muscle groups. Individuals with TS experience a variety of different sensory phenomena, including premonitory urges prior to tics and somatic hypersensitivity due to impaired sensorimotor gating. In addition to other conditions, stress, anxiety, fatigue, or other heightened emotional states tend to exacerbate tics, while relaxation, playing sports, and focused concentration on a specific task tend to alleviate tic symptoms. Ninety percent of children with TS also have comorbid conditions, such as Attention deficit hyperactivity disorder (ADHD), Obsessive-compulsive disorder (OCD), or an impulse control disorder. These disorders often cause more problems for the child both at home and at school than tics do alone. Proper diagnosis and treatment of TS involves appropriate evaluation and recognition, not only of tics, but also of these associated conditions. PMID:23206664

Reduced Tic Symptomatology in Tourette Syndrome After an Acute Bout of Exercise: An Observational Study.

PubMed

Nixon, Elena; Glazebrook, Cris; Hollis, Chris; Jackson, Georgina M

2014-03-01

In light of descriptive accounts of attenuating effects of physical activity on tics, we used an experimental design to assess the impact of an acute bout of aerobic exercise on tic expression in young people (N = 18) with Tourette Syndrome (TS). We compared video-based tic frequency estimates obtained during an exercise session with tic rates obtained during pre-exercise (baseline) and post-exercise interview-based sessions. Results showed significantly reduced tic rates during the exercise session compared with baseline, suggesting that acute exercise has an attenuating effect on tics. Tic rates also remained reduced relative to baseline during the post-exercise session, likely reflecting a sustained effect of exercise on tic reduction. Parallel to the observed tic attenuation, exercise also had a beneficial impact on self-reported anxiety and mood levels. The present findings provide novel empirical evidence for the beneficial effect of exercise on TS symptomatology bearing important research and clinical implications. © The Author(s) 2014.

Distinct subcutaneous emphysema following surgical wisdom tooth extraction in a patient suffering from 'Gilles de la Tourette syndrome'.

PubMed

Tomasetti, Patrick; Kuttenberger, Johannes; Bassetti, Renzo

2015-06-14

Subcutaneous emphysema is a rare complication in oral surgery. In most cases, it resolves spontaneously. However, air might disperse into deeper facial spaces causing life-threatening complications such as compression of the tracheobronchial tree or the development of pneumomediastinum. Moreover, microorganisms might spread from the oral cavity into deeper spaces. Hence, rapid diagnosis of subcutaneous emphysema is important. Characteristic signs are both a shiftable swelling and crepitation. In this case report, a 30-year-old man, suffering from the Gilles de la Tourette Syndrome, with a distinct subcutaneous emphysema after bilateral surgical wisdom tooth extraction is presented. Induced by a specific motor tic, air accumulated from the periorbital through to the parapharyngeal region. Applying a 10-cm-long Redon drainage tube as air valve, 10 days after wisdom teeth extraction, the patient was asymptomatic with complete resolution of the emphysema. Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author 2015.

Comparing the effects of differential reinforcement of other behavior and response-cost contingencies on tics in youth with Tourette syndrome.

PubMed

Capriotti, Matthew R; Brandt, Bryan C; Ricketts, Emily J; Espil, Flint M; Woods, Douglas W

2012-01-01

Tics are rapid, repetitive, stereotyped movements or vocalizations that arise from neurobiological dysfunction and are influenced by environmental factors. Although persons with tic disorders often experience aversive social reactions in response to tics, little is known about the behavioral effects of such consequences. Along several dimensions, the present study compared the effects of two treatments on tics: response cost (RC) and differential reinforcement of other behavior (DRO). Four children with Tourette syndrome were exposed to free-to-tic baseline, DRO, RC, and quasibaseline rebound evaluation conditions using an alternating treatments design. Both DRO and RC produced substantial decreases in tics from baseline levels. No differential effects of DRO and RC contingencies were seen on self-reported stress or in the strength of the reflexive motivating operation (i.e., premonitory urge) believed to trigger tics, and neither condition produced tic-rebound effects. Implications of these findings and directions for future research are discussed.

COMPARING THE EFFECTS OF DIFFERENTIAL REINFORCEMENT OF OTHER BEHAVIOR AND RESPONSE-COST CONTINGENCIES ON TICS IN YOUTH WITH TOURETTE SYNDROME

PubMed Central

Capriotti, Matthew R; Brandt, Bryan C; Ricketts, Emily J; Espil, Flint M; Woods, Douglas W

2012-01-01

Tics are rapid, repetitive, stereotyped movements or vocalizations that arise from neurobiological dysfunction and are influenced by environmental factors. Although persons with tic disorders often experience aversive social reactions in response to tics, little is known about the behavioral effects of such consequences. Along several dimensions, the present study compared the effects of two treatments on tics: response cost (RC) and differential reinforcement of other behavior (DRO). Four children with Tourette syndrome were exposed to free-to-tic baseline, DRO, RC, and quasibaseline rebound evaluation conditions using an alternating treatments design. Both DRO and RC produced substantial decreases in tics from baseline levels. No differential effects of DRO and RC contingencies were seen on self-reported stress or in the strength of the reflexive motivating operation (i.e., premonitory urge) believed to trigger tics, and neither condition produced tic-rebound effects. Implications of these findings and directions for future research are discussed. PMID:22844135

[Chronic tics and Tourette syndrome in children and adolescents: diagnostic and treatment characteristics].

PubMed

Zavadenko, N N; Doronina, O B; Nesterovsky, Yu E

2015-01-01

Chronic tics (CT) are observed in 3-4% population, Tourette syndrome (TS) in 0.1-3.0%. In most cases, tic disorders start at age 2-15 years, but frequently they are diagnosed late. Clinical presentations of tics and comorbid disorders are various and depend on child's age. Difficulties in treatment of CT are associated with their persistence and those for TS with the fluctuating course of tics and probable onset of the disease in the form of behavioral disorders. Treatment of CT and TS is individual. Methods of behavioral and psychotherapy are recommended for a certain period of time if tics do not hamper everyday life. Increase in tick frequency and severity indicate the necessity of using pharmacological treatment. The European recommendations on pharmacotherapy of tic disorders and the drugs available in Russia are considered. Results of the studies on the efficacy of antiepileptic drugs and tenoten children in CT and TS are presented.

A marked point process approach for identifying neural correlates of tics in Tourette Syndrome.

PubMed

Loza, Carlos A; Shute, Jonathan B; Principe, Jose C; Okun, Michael S; Gunduz, Aysegul

2017-07-01

We propose a novel interpretation of local field potentials (LFP) based on a marked point process (MPP) framework that models relevant neuromodulations as shifted weighted versions of prototypical temporal patterns. Particularly, the MPP samples are categorized according to the well known oscillatory rhythms of the brain in an effort to elucidate spectrally specific behavioral correlates. The result is a transient model for LFP. We exploit data-driven techniques to fully estimate the model parameters with the added feature of exceptional temporal resolution of the resulting events. We utilize the learned features in the alpha and beta bands to assess correlations to tic events in patients with Tourette Syndrome (TS). The final results show stronger coupling between LFP recorded from the centromedian-paraficicular complex of the thalamus and the tic marks, in comparison to electrocorticogram (ECoG) recordings from the hand area of the primary motor cortex (M1) in terms of the area under the curve (AUC) of the receiver operating characteristic (ROC) curve.

What makes you tic? Translational approaches to study the role of stress and contextual triggers in Tourette syndrome

PubMed Central

Godar, Sean C; Bortolato, Marco

2016-01-01

Tourette syndrome (TS) is a neurodevelopmental condition characterized by multiple, recurring motor and phonic tics. Rich empirical evidence shows that the severity of tics and associated manifestations is increased by several stressors and contextual triggers; however, the neurobiological mechanisms responsible for symptom exacerbation in TS remain poorly understood. This conceptual gap partially reflects the high phenotypic variability in tics, as well as the existing difficulties in operationalizing and standardizing stress and its effects in a clinical setting. Animal models of TS may be highly informative tools to overcome some of these limitations; these experimental preparations have already provided critical insights on key aspects of TS pathophysiology, and may prove useful to identify the neurochemical alterations induced by different stressful contingencies. In particular, emerging knowledge on the role of contextual triggers in animal models of TS may inform the development of novel pharmacological interventions to reduce tic fluctuations in this disorder. PMID:27939782

Habit reversal training and educational group treatments for children with tourette syndrome: A preliminary randomised controlled trial.

PubMed

Yates, Rachel; Edwards, Katie; King, John; Luzon, Olga; Evangeli, Michael; Stark, Daniel; McFarlane, Fiona; Heyman, Isobel; İnce, Başak; Kodric, Jana; Murphy, Tara

2016-05-01

Quality of life of children with Tourette Syndrome (TS) is impacted greatly by its symptoms and their social consequences. Habit Reversal Training (HRT) is effective but has not, until now, been empirically evaluated in groups. This randomised controlled trial evaluated feasibility and preliminary efficacy of eight HRT group sessions compared to eight Education group sessions. Thirty-three children aged 9-13 years with TS or Chronic Tic Disorder took part. Outcomes evaluated were tic severity and quality of life (QoL). Tic severity improvements were found in both groups. Motor tic severity (Yale Global Tic Severity Scale) showed greatest improvements in the HRT group. Both groups showed a strong tendency toward improvements in patient reported QoL. In conclusion, group-based treatments for TS are feasible and exposure to other children with tics did not increase tic expression. HRT led to greater reductions in tic severity than Education. Implications, such as cost-effectiveness of treatment delivery, are discussed. Copyright © 2016. Published by Elsevier Ltd.

Tourette syndrome and other neurodevelopmental disorders: a comprehensive review.

PubMed

Cravedi, Elena; Deniau, Emmanuelle; Giannitelli, Marianna; Xavier, Jean; Hartmann, Andreas; Cohen, David

2017-01-01

Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient's quality of life. In the DSM-5, TS belongs to the "neurodevelopmental disorders" group, together with other neurodevelopmental conditions, frequently co-occurring. In this study, we searched the PubMed database using a combination of keywords associating TS and all neurodevelopmental diagnoses. From 1009 original reports, we identified 36 studies addressing TS and neurodevelopmental comorbidities. The available evidence suggests the following: (1) neurodevelopmental comorbidities in TS are the rule, rather than the exception; (2) attention deficit/hyperactivity disorder (ADHD) is the most frequent; (3) there is a continuum from a simple (TS + ADHD or/and learning disorder) to a more complex phenotype (TS + autism spectrum disorder). We conclude that a prompt diagnosis and a detailed description of TS comorbidities are necessary not only to understand the aetiological basis of neurodevelopmental disorders but also to address specific rehabilitative and therapeutic approaches.

Cigarette smoking in patients with obsessive compulsive disorder: a report from the International College of Obsessive Compulsive Spectrum Disorders (ICOCS).

PubMed

Dell'Osso, Bernardo; Nicolini, Humberto; Lanzagorta, Nuria; Benatti, Beatrice; Spagnolin, Gregorio; Palazzo, M Carlotta; Marazziti, Donatella; Hollander, Eric; Fineberg, Naomi; Stein, Dan J; Pallanti, Stefano; Van Ameringen, Michael; Lochner, Christine; Hranov, Georgi; Karamustafalioglu, Oguz; Hranov, Luchezar; Zohar, Joseph; Denys, Damiaan; Altamura, A Carlo; Menchon, Jose M

2015-10-01

Obsessive compulsive disorder (OCD) showed a lower prevalence of cigarette smoking compared to other psychiatric disorders in previous and recent reports. We assessed the prevalence and clinical correlates of the phenomenon in an international sample of 504 OCD patients recruited through the International College of Obsessive Compulsive Spectrum Disorders (ICOCS) network. Cigarette smoking showed a cross-sectional prevalence of 24.4% in the sample, with significant differences across countries. Females were more represented among smoking patients (16% vs 7%; p<.001). Patients with comorbid Tourette's syndrome (p<.05) and tic disorder (p<.05) were also more represented among smoking subjects. Former smokers reported a higher number of suicide attempts (p<.05). We found a lower cross-sectional prevalence of smoking among OCD patients compared to findings from previous studies in patients with other psychiatric disorders but higher compared to previous and more recent OCD studies. Geographic differences were found and smoking was more common in females and comorbid Tourette's syndrome/tic disorder.

Self-reported emotion regulation in adults with Tourette's syndrome.

PubMed

Drury, Helena; Wilkinson, Verity; Robertson, Mary M; Channon, Shelley

2016-11-30

Recent work has reported mild impairments in social and emotional processing in Tourette's syndrome (TS), but deliberate attempts to use specific emotion regulation strategies have not been investigated previously. In the present study, adult participants with TS and no comorbidities (TS-alone) were compared to healthy control participants on several self-report measures assessing habitual use of reappraisal and suppression emotion regulation strategies. There were no group differences on measures of reappraisal, but the TS-alone group reported using suppression more frequently than the control group and this was true across a range of negative emotions. The groups did not differ on symptomatology scores of anxiety or depression, although more frequent use of suppression was associated with higher depressive symptomatology for the TS-alone group only. Further work is needed to examine potential factors that may influence emotion regulation in TS, including increased emotional reactivity or expertise in applying strategies to suppress tic symptoms. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Adult head-banging and stereotypic movement disorders.

PubMed

Mendez, M F; Mirea, A

1998-09-01

Stereotypic movement disorders (SMD) such as head-banging, which are common among children with mental retardation or pervasive developmental disorders, may also occur in intellectually normal adults. We report a 27-year history of daily head-banging with self-injury in a 49-year-old man with normal cognition. The patient had no personal or family history of Tourette's syndrome, tic disorder, obsessive-compulsive disorder (OCD), or mental retardation. The frequency of his stereotypical head-banging increased with anxiety, loud noises with startle, and boredom. He reported a sense of pleasure from his head-banging, and the frequency of this behavior decreased when he was treated with the opioid antagonist naltrexone. Although not diagnostic, the self-stimulatory or pleasurable component of head-banging, body-rocking, thumb-sucking, and other SMD may help distinguish them from tics, Tourette's syndrome, OCD, and deliberate self-harming behavior. This report reviews the disorders associated with SMD and discusses the potential mechanisms for these behaviors. The treatment of SMD includes drugs that work through opioid, serotonergic, or dopaminergic systems.

Obsessive Compulsive Disorder: What an Educator Needs to Know

ERIC Educational Resources Information Center

Chaturvedi, Amrita; Murdick, Nikki L.; Gartin, Barbara C.

2014-01-01

The presence of obsessive compulsive disorder (OCD) impairs social, emotional and academic functioning. Individuals with OCD may have co-morbid disorders including attention deficit hyperactivity disorder, depression, oppositional defiant disorder, or Tourette syndrome. Challenges occur when students with OCD become a part of the general education…

It's All Your Fault!

ERIC Educational Resources Information Center

Leone, Pamela; Hylton, Jaime

1998-01-01

Relates a case that involves a student with a language-based learning disability and Tourette's Syndrome who becomes increasingly dissatisfied with the support provided by the university. Delineates, in a response by Ruth J. Fink, some enhancements that could have been made in the actual case management, some hindsight observations, and…

Long-term outcome of thalamic deep brain stimulation in two patients with Tourette syndrome.

PubMed

Ackermans, Linda; Duits, Annelien; Temel, Yasin; Winogrodzka, Ania; Peeters, Frenk; Beuls, Emile A M; Visser-Vandewalle, Veerle

2010-10-01

Thalamic deep brain stimulation for intractable Tourette Syndrome was introduced in 1999 by Vandewalle et al. In this follow-up study, the authors report on the long-term (6 and 10 years) outcome in terms of tic reduction, cognition, mood and side effects of medial thalamic deep brain stimulation in two previously described Tourette patients. The authors compared the outcome of two patients at 6 and 10 years after surgery with their preoperative status and after 8 months and 5 years of treatment, respectively. Standardised video recordings were scored by three independent investigators. Both patients underwent (neuro)psychological assessment at all time points of follow-up. Tic improvement observed at 5 years in patient 1 (90.1%) was maintained at 10 years (92.6%). In patient 2, the tic improvement at 8 months (82%) was slightly decreased at 6 years (78%). During follow-up, case 1 revealed no changes in cognition, but case 2 showed a decrease in verbal fluency and learning which was in line with his subjective reports. Case 2 showed a slight decrease in depression, but overall psychopathology was still high at 6 years after surgery with an increase in anger and aggression together with difficulties in social adaptation. Besides temporary hardware-related complications, no distressing adverse effects were observed. Bilateral thalamic stimulation may provide sustained tic benefit after at least 6 years, but to maximise overall outcome, attention is needed for postoperative psychosocial adaptation, already prior to surgery.

Control networks in paediatric Tourette syndrome show immature and anomalous patterns of functional connectivity

PubMed Central

Fair, Damien A.; Dosenbach, Nico U. F.; Cohen, Alexander L.; Miezin, Francis M.; Petersen, Steven E.; Schlaggar, Bradley L.

2009-01-01

Tourette syndrome (TS) is a developmental disorder characterized by unwanted, repetitive behaviours that manifest as stereotyped movements and vocalizations called ‘tics’. Operating under the hypothesis that the brain's control systems may be impaired in TS, we measured resting-state functional connectivity MRI (rs-fcMRI) between 39 previously defined putative control regions in 33 adolescents with TS. We were particularly interested in the effect of TS on two of the brain's task control networks—a fronto-parietal network likely involved in more rapid, adaptive online control, and a cingulo-opercular network apparently important for set-maintenance. To examine the relative maturity of connections in the Tourette subjects, functional connections that changed significantly over typical development were examined. Age curves were created for each functional connection charting correlation coefficients over age for 210 healthy people aged 7–31 years, and the TS group correlation coefficients were compared to these curves. Many of these connections were significantly less ‘mature’ than expected in the TS group. This immaturity was true not only for functional connections that grow stronger with age, but also for those that diminish in strength with age. To explore other differences between Tourette and typically developing subjects further, we performed a second analysis in which the TS group was directly compared to an age-matched, movement-matched group of typically developing, unaffected adolescents. A number of functional connections were found to differ between the two groups. For these identified connections, a large number of connectional differences were found where the TS group value was out of range compared to typical developmental age curves. These anomalous connections were primarily found in the fronto-parietal network, thought to be important for online adaptive control. These results suggest that in adolescents with TS, immature functional connectivity is widespread, with additional, more profound deviation of connectivity in regions related to adaptive online control. PMID:18952678

The Nature of Ritalin: A Response to Cooter.

ERIC Educational Resources Information Center

Mick, Lori Bell

1991-01-01

In response to Robert Cooter, Jr. (EC 202 670), who questioned the widespread use of Ritalin with children having attention deficit hyperactivity disorders, this commentary considers four specific points: how Ritalin works, Ritalin's side effects and relationship to Tourette syndrome, the assumption that Ritalin leads to drug abuse, and the…

Handi Helps, 1984.

ERIC Educational Resources Information Center

Handi Helps, 1984

1984-01-01

The eight issues of Handi Helps presented in this document focus on specific issues of concern to the disabled, parents, and those working with the disabled. The two-page handi help fact sheets focus on the following topics: child abuse, leukemia, arthritis, Tourette Syndrome, hemophilia, the puppet program "Meet the New Kids on the…

Habit Reversal Training for Tic Disorders in Children and Adolescents

ERIC Educational Resources Information Center

Piacentini, John; Chang, Susanna

2005-01-01

Chronic tic disorders, including Tourette's syndrome (TS), affect approximately .5% of children and adolescents. Although strong evidence exists supporting a neurobiological etiology, operant factors may play a role in the maintenance of tic behaviors. Pharmacological approaches remain the most commonly used intervention for chronic tic disorder…

Brief Antecedent Assessment and Treatment of Tics in the General Education Classroom: A Preliminary Investigation

ERIC Educational Resources Information Center

Watson, T.; Dufrene, Brad; Weaver, Adam; Butler, Tonya; Meeks, Caroline

2005-01-01

The purpose of this study was to determine if specific classroom antecedents were associated with motor and vocal tics in two males diagnosed with Tourette's syndrome. A functional assessment consisting of teacher and student interviews, direct observations, brief functional analysis, and confirmatory naturalistic observations indicated that…

Socially ADDept: Teaching Social Skills to Children with ADHD, LD, and Asperger's, Revised Edition

ERIC Educational Resources Information Center

Giler, Janet Z.

2011-01-01

"Socially ADDept" helps educators and parents teach the hidden rules of social behavior to children with limited social skills, notably those with special needs like ADHD, learning disabilities, Asperger's and high-functioning autism, Tourette Syndrome, and nonverbal learning disabilities. The author provides all the information parents and…

Functional Analysis Identified Habit Reversal Components for the Treatment of Motor Tics

ERIC Educational Resources Information Center

Dufrene, Brad A.; Harpole, Lauren Lestremau; Sterling, Heather E.; Perry, Erin J.; Burton, Britney; Zoder-Martell, Kimberly

2013-01-01

This study included brief functional analyses and treatment for motor tics exhibited by two children with Tourette Syndrome. Brief functional analyses were conducted in an outpatient treatment center and results were used to develop individualized habit reversal procedures. Treatment data were collected in clinic for one child and in clinic and…

Tic-Related School Problems: Impact on Functioning, Accommodations, and Interventions

ERIC Educational Resources Information Center

Packer, Leslie E.

2005-01-01

Children with Tourette's syndrome (TS) are statistically overrepresented in special education classes; however, the extent to which tics contribute to such placement is unclear. In this article, the results of a survey of parents or guardians of 71 children and adolescents with TS are described within the broader context of discussing the impact…

Behavior Therapy for Tics via Videoconference Delivery: An Initial Pilot Test in Children

ERIC Educational Resources Information Center

Himle, Michael B.; Olufs, Erin; Himle, Joseph; Tucker, Benjamin T. P.; Woods, Douglas W.

2010-01-01

Habit reversal training (HRT) has been proven effective for reducing tics in children with Tourette's syndrome (TS). However, the availability of the intervention is limited. Videoconference technology represents a promising mode through which HRT may be disseminated to underserved areas. Using a multiple-baseline across participants design, the…

Reliability and Validity of the Yale Global Tic Severity Scale

ERIC Educational Resources Information Center

Storch, Eric A.; Murphy, Tanya K.; Geffken, Gary R.; Sajid, Muhammad; Allen, Pam; Roberti, Jonathan W.; Goodman, Wayne K.

2005-01-01

To investigate the reliability and validity of the Yale Global Tic Severity Scale (YGTSS), 28 youth aged 6 to 17 years with Tourette's syndrome (TS) participated in the study. Data included clinician reports of tics and obsessive-compulsive disorder (OCD) severity, parent reports of tics, internalizing and externalizing problems, and child reports…

Tics and Tourette Syndrome in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Canitano, Roberto; Vivanti, Giacomo

2007-01-01

Autism spectrum disorders (ASDs) are more frequently associated with tic disorders than expected by chance. Variable rates of comorbidity have been reported and common genetic and neurobiological factors are probably involved. The aim of this study was to determine the rate of tic disorders in a clinical sample (n = 105) of children and…

Dopamine-Dependent Reinforcement of Motor Skill Learning: Evidence from Gilles de la Tourette Syndrome

ERIC Educational Resources Information Center

Palminteri, Stefano; Lebreton, Mael; Worbe, Yulia; Hartmann, Andreas; Lehericy, Stephane; Vidailhet, Marie; Grabli, David; Pessiglione, Mathias

2011-01-01

Reinforcement learning theory has been extensively used to understand the neural underpinnings of instrumental behaviour. A central assumption surrounds dopamine signalling reward prediction errors, so as to update action values and ensure better choices in the future. However, educators may share the intuitive idea that reinforcements not only…

Exploring the Impact of Chronic Tic Disorders on Youth: Results from the Tourette Syndrome Impact Survey

ERIC Educational Resources Information Center

Conelea, Christine A.; Woods, Douglas W.; Zinner, Samuel H.; Budman, Cathy; Murphy, Tanya; Scahill, Lawrence D.; Compton, Scott N.; Walkup, John

2011-01-01

Prior research has demonstrated that chronic tic disorders (CTD) are associated with functional impairment across several domains. However, methodological limitations, such as data acquired by parental report, datasets aggregated across child and adult samples, and small treatment-seeking samples, curtail interpretation. The current study explored…

Neuropsychological functioning in children with Tourette syndrome (TS).

PubMed

Rasmussen, Carmen; Soleimani, Maryam; Carroll, Alan; Hodlevskyy, Oleksander

2009-11-01

We examined whether children with Tourette syndrome (TS) displayed a unique pattern of neuropsychological deficits on the CANTAB relative to control children. We also looked at whether children with TS and other comorbidities had more neuropsychological impairments than those with uncomplicated TS and how age was related to the profile of neuropsychological deficits in TS. Participants included 38 children with TS (aged 7 to 13 years) and 38 control children (aged 6 to 12 years). All children were administered 8 subtests from the CANTAB and parents and teachers completed the BRIEF rating scale on children in the TS group. Children with TS displayed deficits relative to control children on measures of visual memory, executive functioning, and attention from the CANTAB. Among the TS group, age was negatively correlated with performance on measures of executive functioning, speed of response and working memory. Identifying the pattern of neuropsychological deficits in children with TS on the CANTAB is important for highlighting areas of deficit that can be targeted for intervention and teaching strategies. With further research, the CANTAB may prove to be a useful resource in the assessment and treatment of children with TS.

Neurofeedback and its possible relevance for the treatment of Tourette syndrome.

PubMed

Farkas, Aniko; Bluschke, Annet; Roessner, Veit; Beste, Christian

2015-04-01

Neurofeedback is an increasingly recognized therapeutic option in various neuropsychiatric disorders to treat dysfunctions in cognitive control as well as disorder-specific symptoms. In this review we propose that neurofeedback may also reflect a valuable therapeutic option to treat executive control functions in Gilles-de-la-Tourette syndrome (GTS). Deficits in executive control functions when ADHD symptoms appear in GTS likely reflect pathophysiological processes in cortico-thalamic-striatal circuits and may also underlie the motor symptoms in GTS. Such executive control deficits evident in comorbid GTS/ADHD depend on neurophysiological processes well-known to be modifiable by neurofeedback. However, so far efforts to use neurofeedback to treat cognitive dysfunctions are scarce. We outline why neurofeedback should be considered a promising treatment option, what forms of neurofeedback may prove to be most effective and how neurofeedback may be implemented in existing intervention strategies to treat comorbid GTS/ADHD and associated dysfunctions in cognitive control. As cognitive control deficits in GTS mostly appear in comorbid GTS/ADHD, neurofeedback may be most useful in this frequent combination of disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

Prevalence and phenomenology of eye tics in Gilles de la Tourette syndrome.

PubMed

Martino, Davide; Cavanna, Andrea E; Robertson, Mary M; Orth, Michael

2012-10-01

Eye tics seem to be common in Gilles de la Tourette syndrome (GTS). We analyzed the frequency and clinical characteristics of eye tics in 212 GTS patients. Of the 212 patients, 201 (94.8 %) reported eye tics in their life-time; 166 (78.3 %) reported eye movement tics (rolling eyes up/down, eyes looking sideways, staring), and 194 (91.5 %) eyelid/eyebrow movement tics (frowning, raising eyebrows, blinking or winking). Patients with eye movement tics were younger at age of GTS onset (7.1 ± 4 years) than those without (8.9 ± 6.8; p = 0.024). Tic severity positively correlated to lifetime history of eye and/or eyelid/eyebrow movement tics. Our data confirm that eye and eyelid/eyebrow movement tics are very common in GTS, and most patients have several types of eye tics over time. Eye tic phenomenology was similar in patients with or without co-morbidity. Eye tics are therefore likely to be a core feature of GTS and should be routinely evaluated in order to strengthen the clinician's confidence in diagnosing GTS.

Tics as signs of catatonia: electroconvulsive therapy response in 2 men.

PubMed

Dhossche, Dirk M; Reti, Irving M; Shettar, Shashidhar M; Wachtel, Lee E

2010-12-01

Tics have rarely been described in catatonia although tics are sudden and nonrhythmic variants of stereotypic or repetitive movement abnormalities that are considered cardinal symptoms of catatonia. We describe 2 men with tics and self-injurious behavior, who met criteria for catatonia. One patient met criteria for autism. We reported 2 new cases and performed a literature review using PubMed to identify other cases of tics that were treated with electroconvulsive therapy. Tics along with other catatonic symptoms and self-injurious behavior responded to electroconvulsive therapy in 2 men. Eight other patients with tics that were treated with electroconvulsive therapy were found in the literature. Catatonia was recognized in 4 of the 8 patients. Two patients met criteria for autism. Tics, with or without self-injurious behavior, may be signs of catatonia. Patients with tics or Tourette syndrome warrant assessment for catatonia. If catatonia is present, electroconvulsive therapy provides a safe but rarely used alternative to pharmacotherapy, psychosurgery, or invasive brain stimulation in the treatment of tics and Tourette syndrome. © 2010 Lippincott Williams & Wilkins, Inc.

Recent Advances in Tourette Syndrome

PubMed Central

Bloch, Michael; State, Matthew; Pittenger, Christopher

2014-01-01

Purpose of review The purpose of this review is to consider the recent literature pertaining to the neurobiology, genetics and treatment of Tourette syndrome (TS). Recent findings Over the last several years, both neuropathological and genetic findings have further focused attention on long-standing hypotheses regarding the role of the basal ganglia in the etiology of tics and TS. Moreover, while the field awaits the results the first large-scale genetic studies, recent findings have already mirrored developments in the neuropsychiatric genetics literature more broadly, highlighting the value of the study of rare variation and the overlap of risks among seemingly disparate diagnostic categories. Finally, treatment studies have underscored the importance of cognitive-behavioral as well as pharmacological interventions for the treatment of tic disorders. Summary Recent findings have led to novel, testable hypotheses regarding the molecular and cellular mechanisms underlying TS. These, in turn, have begun to provide new avenues to conceptualizing treatment strategies. While the development of additional medication options is a pressing need, recent data has demonstrated both the safety and efficacy of non-pharmacological approaches. PMID:21386676

Treatment of Tourette syndrome.

PubMed

Kurlan, Roger M

2014-01-01

Tourette's syndrome (TS) consists of chronic motor and phonic tics and characteristically begins in childhood. The tics can be disabling and commonly associated behavioral comorbities such as attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), can also cause problems in daily functioning. The underlying etiology and neurobiology of TS remain unknown although genetic factors appear to be important, cortical control of basal ganglia motor function appears to be disturbed and neurochemical abnormalities, particularly involving dopamine neurotransmission, are likely present. The treatment of TS involves appropriate education and support. Tics can be treated with habit reversal cognitive behavioral therapy, medications (most commonly alpha agonists and antipsychotics), local intramuscular injections of botulinum toxin and some severe, refractory cases have responded to deep brain stimulation surgery (DBS). It is important to appropriately diagnose and treat comorbid behavioral disorders that are disrupting function. OCD can be treated with cognitive behavioral therapy, selective serotonin reuptake inhibitors, and atypical antipsychotics. DBS has become a treatment option for patients with disabling OCD despite other therapies. ADHD is treated with appropriate classroom accommodations, behavioral therapy, alpha agonists, atomoxetine or methylphenidate-containing stimulant drugs.

[Did Mozart Suffer from Gilles de la Tourette Syndrome?

PubMed

Palacios-Sánchez, Leonardo; Botero-Meneses, Juan Sebastián; Vergara-Méndez, Laura Daniela; Pachón, Natalia; Martínez, Arianna; Ramírez, Santiago

The personal and private lives of great men and women in history, like writers, painters and musicians, have been the subject of great interest for many years. A clear example of this is the vast scrutiny is cast over the famous composer, Wolfgang Amadeus Mozart. What may have started as curiosity, rapidly evolved into extensive research, as the answers about the musician's legendary talent may lie in the details of his life (his childhood, his relationships, his quirks and his mannerisms). It is usually up to historians, anthropologists or philosophers to delve into the pages of old books, trying to grasp answers and clues. However, for some time, Physicians have sought their own part in solving the puzzle. The long told hypothesis regarding Mozart's diagnosis of Gilles de la Tourette syndrome will be examined. Could all of the peculiarities and oddities of the genius be caused by a neurological disorder? Or was this musical genius just an eccentric brilliant man?. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

Effect of “Jian-Pi-Zhi-Dong Decoction” on Gamma-Aminobutyric Acid in a Mouse Model of Tourette Syndrome

PubMed Central

Zhang, Wen; Yu, Wenjing; Wei, Li; Lee, Minkyoung; Wang, Sumei

2014-01-01

The purpose of this study was to explore the positive effects of Jian-Pi-Zhi-Dong Decoction (JPZDD) on Tourette syndrome (TS) by investigating the expression of gamma-aminobutyric acid (GABA) and its type A receptor (GABAAR) in the striatum of a TS mice model. The model was induced by 3,3′-iminodipropionitrile (IDPN) treatment; then mice were divided into 4 groups (n=22, each); control and IDPN groups were gavaged with saline and the remaining 2 groups were gavaged with tiapride and JPZDD. We recorded the stereotypic behaviors of TS mice and measured the content of GABA in striatum by HPLC and GABAAR expression by immunohistochemistry and real-time PCR. Our results showed that JPZDD inhibited the abnormal behaviors of TS model mice and decreased GABA levels and GABAAR protein and mRNA expression in the striatum of TS model mice. In brief, the mechanism by which JPZDD alleviates TS symptoms may be associated with GABAAR expression downregulation in striatum which may regulate GABA metabolism. PMID:24812567

Significant Linkage for Tourette Syndrome in a Large French Canadian Family

PubMed Central

Mérette, Chantal; Brassard, Andrée; Potvin, Anne; Bouvier, Hélène; Rousseau, François; Émond, Claudia; Bissonnette, Luc; Roy, Marc-André; Maziade, Michel; Ott, Jurg; Caron, Chantal

2000-01-01

Family and twin studies provide strong evidence that genetic factors are involved in the transmission of Gilles de la Tourette syndrome (TS) and related psychiatric disorders. To detect the underlying susceptibility gene(s) for TS, we performed linkage analysis in one large French Canadian family (127 members) from the Charlevoix region, in which 20 family members were definitely affected by TS and 20 others showed related tic disorders. Using model-based linkage analysis, we observed a LOD score of 3.24 on chromosome 11 (11q23). This result was obtained in a multipoint approach involving marker D11S1377, the marker for which significant linkage disequilibrium with TS recently has been detected in an Afrikaner population. Altogether, 25 markers were studied, and, for level of significance, we derived a criterion that took into account the multiple testing arising from the use of three phenotype definitions and three modes of inheritance, a procedure that yielded a LOD score of 3.18. Hence, even after adjustment for multiple testing, the present study shows statistically significant evidence for genetic linkage with TS. PMID:10986045

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

PubMed Central

Abdulkadir, Mohamed; Tischfield, Jay A.; King, Robert A.; Fernandez, Thomas V.; Brown, Lawrence W.; Cheon, Keun-Ah; Coffey, Barbara J.; de Bruijn, Sebastian F. T. M.; 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 J. C.; Plessen, Kerstin J.; Rath, Judith J. G.; 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.; Dietrich, Andrea

2016-01-01

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 1,113 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. PMID:27494079

Paliperidone-associated motor tics.

PubMed

Hsieh, Ming-Han; Chiu, Nan-Ying

2014-01-01

Paliperidone-associated motor tics. Case report. We report a 30-year-old man with schizophrenia who developed motor tics (eye blinking) after treatment of paliperidone up to 15 mg daily. Tic-like symptoms, from simple eye blinking to complex Tourette-like syndrome, may occur during paliperidone treatment, especially with high dose. Crown Copyright © 2014. Published by Elsevier Inc. All rights reserved.

Comparing the Effects of Differential Reinforcement of Other Behavior and Response-Cost Contingencies on Tics in Youth with Tourette Syndrome

ERIC Educational Resources Information Center

Capriotti, Matthew R.; Brandt, Bryan C.; Ricketts, Emily J.; Espil, Flint M.; Woods, Douglas W.

2012-01-01

Tics are rapid, repetitive, stereotyped movements or vocalizations that arise from neurobiological dysfunction and are influenced by environmental factors. Although persons with tic disorders often experience aversive social reactions in response to tics, little is known about the behavioral effects of such consequences. Along several dimensions,…

Tic Disorders and Learning Disability: Clinical Characteristics, Cognitive Performance and Comorbidity

ERIC Educational Resources Information Center

Eapen, Valsamma; Crncec, Rudi; McPherson, Sarah; Snedden, Corina

2013-01-01

Tics are involuntary movements or sounds. Tourette syndrome is one of a family of tic disorders that affect around 1% of the population but which remains underrecognised in the community. In paediatric special education learning disability classes, the prevalence of individuals with tic disorders is around 20-45%--higher still in special education…

Creating Tic Suppression: Comparing the Effects of Verbal Instruction to Differential Reinforcement

ERIC Educational Resources Information Center

Woods, Douglas W.; Himle, Michael B.

2004-01-01

The purpose of this study was to compare two methods designed to produce tic reduction in 4 children with Tourette's syndrome. Specifically, a verbal instruction not to engage in tics was compared to a verbal instruction plus differential reinforcement of zero-rate behavior (DRO). Results showed that the DRO-enhanced procedure yielded greater…

Behavior Therapy for Tourette's Syndrome and Chronic Tic Disorder: A Web-Based Video Illustration of Treatment Components

ERIC Educational Resources Information Center

Reese, Hannah E.; Timpano, Kiara R.; Siev, Jedidiah; Rowley, Theresa; Wilhelm, Sabine

2010-01-01

Tic disorders have traditionally been conceptualized as neurobiological conditions and consequently within the purview of neurologists. In the last few decades, however, a number of psychosocial treatments have been developed and tested. To date, a behavioral treatment called Habit Reversal Training (HRT) has garnered the most empirical support as…

Neuropsychiatric Disorders Associated with Streptococcal Infection: A Case-Control Study among Privately Insured Children

ERIC Educational Resources Information Center

Leslie, Douglas L.; Kozma, Laura; Martin, Andres; Landeros, Angeli; Katsovich, Liliya; King, Robert A.; Leckman, James F.

2008-01-01

The link between streptococcal infections and the onset of a variety of neuropsychiatric disorders is studied using a national sample of privately insured children. Findings suggest that patients with new-onset of obsessive-compulsive disorder, Tourette syndrome or tic orders were more likely to have been diagnosed with streptococcal infections in…

Immediate-Release Methylphenidate for ADHD in Children with Comorbid Chronic Multiple Tic Disorder

ERIC Educational Resources Information Center

Gadow, Kenneth D.; Sverd, Jeffrey; Nolan, Edith E.; Sprafkin, Joyce; Schneider, Jayne

2007-01-01

Objective: To examine the safety and efficacy of immediate-release methylphenidate (MPH-IR) for the treatment of attention-deficit/hyperactivity disorder (ADHD) in children (ages 6-12 years) with Tourette's syndrome (96%) or chronic motor tic disorder (4%). Method: Two cohorts of prepubertal children (N = 71) received placebo and three doses of…

Pediatric autoimmune neuropsychiatric disorders associated with streptococci (PANDAS): update.

PubMed

Shulman, Stanford T

2009-02-01

To review recent developments related to the proposed entity Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococci (so-called 'PANDAS'). The relationship between obsessive-compulsive disorder (OCD) or tics/Tourette's syndrome in childhood to antecedent group A streptococci (GAS) is unclear. One recent prospective cohort study found that more than 85% of clinical exacerbations in OCD/tic behavior in patients who met criteria for PANDAS had no relationship to GAS infection. Another study found no correlation between clinical exacerbations and changes in a variety of markers of brain autoimmunity, the proposed pathogenesis of PANDAS. A third recent study concluded that, compared with specialty clinic diagnoses, patients diagnosed with tics or Tourette's by physicians in the community were significantly more likely to be diagnosed with PANDAS without meeting the proposed criteria, most lacked supporting laboratory evidence of GAS infection, and they were more likely to be treated with unjustified short-term to chronic antibiotic and/or immunomodulatory therapy. Despite continued research in the field, the relationship between GAS and specific neuropsychiatric disorders (PANDAS) remains elusive. It is possible that GAS infection may be but one of the many stressors that can exacerbate tic/Tourette's or OCD in a subset of such patients.

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

PubMed

Abdulkadir, Mohamed; Tischfield, Jay A; King, Robert A; Fernandez, Thomas V; Brown, Lawrence W; Cheon, Keun-Ah; Coffey, Barbara J; de Bruijn, Sebastian F T M; 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 J C; Plessen, Kerstin J; Rath, Judith J G; 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; Dietrich, Andrea

2016-11-01

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. Copyright © 2016 Elsevier Ltd. All rights reserved.

An introduction to the clinical phenomenology of Tourette syndrome.

PubMed

Martino, Davide; Madhusudan, Namrata; Zis, Panagiotis; Cavanna, Andrea E

2013-01-01

Tourette syndrome (TS) is the primary tic disorder that reaches most commonly medical attention and monitoring, with an estimated prevalence close to 1% between 5 and 18 years of age. Motor and phonic tics are the core features of TS. In addition to their well-characterized phenomenology, tics display a peculiar variability over time, which is strongly influenced by a variety of contextual factors. The sensory phenomena of TS are increasingly recognized as another crucial symptom of TS and consist of premonitory urges and somatic hypersensitivity. A relevant proportion of patients with TS display complex, tic-like, repetitive behaviors that include echophenomena, coprophenomena, and nonobscene socially inappropriate behaviors (NOSIBs). The burden of behavioral comorbidities is very important in determining the degree of disability of TS patients. Only a small minority of TS patients presents exclusively with a tic disorder. Obsessive-compulsive symptoms and related disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. Probably, the presence of comorbid attention deficit hyperactivity disorder (ADHD) is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Affective disorders, impulse control disorders, autism spectrum disorders, and personality disorders complete the wide psychopathological spectrum of this condition, but have been less investigated than OCD and ADHD. The complexity of the Tourette spectrum has been confirmed by cluster and factor analytical approaches, and is likely to inform the study of the genetic basis of this disorder, as well as future reappraisal of its nosography, with the development of novel clinical subtypes. © 2013 Elsevier Inc. All rights reserved.

The Mental and Emotional Well-Being of Children: A Portrait of States and the Nation 2007. The National Survey of Children's Health

ERIC Educational Resources Information Center

US Department of Health and Human Services, 2010

2010-01-01

Children, like adults, may have mental health problems, including depression and anxiety. They may also have behavioral conditions, such as conduct disorders; cognitive disorders, such as autism spectrum disorder; or neurological conditions, such as Tourette Syndrome. Children may also be affected by delays in their physical, cognitive, or…

An Evaluation of the Effectiveness of Exposure and Response Prevention on Repetitive Behaviors Associated with Tourette's Syndrome

ERIC Educational Resources Information Center

Wetterneck, Chad T.; Woods, Douglas W.

2006-01-01

Exposure and response prevention (ERP) was evaluated as treatment for three repetitive behaviors in an 11-year-old boy using a multiple baseline across behaviors design. The repetitive behaviors and associated self-reported distress were eliminated. At 3-month follow-up, the frequency for two of the three behaviors returned to baseline levels.…

Patients with Gilles de la Tourette syndrome have widespread personality differences.

PubMed

Trillini, Morounke O; Müller-Vahl, Kirsten R

2015-08-30

Only little is known about pathological personality traits in patients with Gilles de la Tourette syndrome (GTS). The aim of this study was to further investigate the prevalence of personality traits in adults with GTS. We used a variety of rating scales to assess not only personality traits, but also severity of tics, quality of life, and comorbidities (obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), depression), in a large group (n=50) of patients. Our major finding was that pathological personality traits are very common in patients with GTS encompassing a wide range of different personality traits, but most typically personality traits related to cluster C. Demand-anxious was the most common personality trait, while histrionic personality trait was absent. Patients' quality of life was more impaired by personality traits than comorbidities. Personality traits were more common in patients with comorbid OCD and depression, while comorbid ADHD had no influence. Our findings, therefore, corroborate the hypothesis that GTS plus OCD represents a more severe subtype of GTS, and support the assumption that OCD and depression, but not ADHD, are part of the GTS spectrum. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Gilles de la Tourette syndrome in a cohort of deaf people.

PubMed

Robertson, M M; Roberts, S; Pillai, S; Eapen, V

2015-10-01

We present six patients with Gilles de la Tourette syndrome (TS) who are also deaf. TS has been observed previously, but rarely reported in deaf people, and to date, so called "unusual" phenomenology has been highlighted. TS occurs almost worldwide and in all cultures, and the clinical phenomenology is virtually identical. In our cohort of deaf patients (we suggest another culture) with TS, the phenomenology is the same as in hearing people, and as in all other cultures, with classic motor and vocal/phonic tics, as well as associated phenomena including echo-phenomena, pali-phenomena and rarer copro-phenomena. When "words" related to these phenomenon (e.g. echolalia, palilalia, coprolalia or mental coprolalia) are elicited in deaf people, they occur usually in British Sign Language (BSL): the more "basic" vocal/phonic tics such as throat clearing are the same phenomenologically as in hearing TS people. In our case series, there was a genetic predisposition to TS in all cases. We would argue that TS in deaf people is the same as TS in hearing people and in other cultures, highlighting the biological nature of the disorder. Copyright © 2015 Elsevier B.V. All rights reserved.

The effect of shorter exposure versus prolonged exposure on treatment outcome in Tourette syndrome and chronic tic disorders - an open trial.

PubMed

van de Griendt, Jolande M T M; van Dijk, Maarten K; Verdellen, Cara W J; Verbraak, Marc J P M

2018-01-11

Exposure and response prevention has shown to be an effective strategy and is considered a first-line intervention in the behavioural treatment of tic disorders. Prior research demonstrated significant tic reduction after 12 two hour sessions. In this open trial, the question is addressed whether, relative to these prolonged sessions, exposure sessions of shorter duration yield differential outcome for patients with tic disorders. A total of 29 patients diagnosed with Tourette syndrome (TS) or chronic tic disorder were treated with shorter exposure sessions (1 h), and these data were compared to the data from a study about prolonged exposure (2 h, n = 21). Outcome was measured by the Yale Global Tic Severity Scale (YGTSS). Results suggest that after taking the difference in illness duration between the two groups into account, the effectiveness of shorter exposure sessions is not inferior to that of prolonged exposure. Results suggest that treatment with shorter exposure might be more efficient and more patients can be reached. Future research is needed to gain more insight into the mechanisms underlying the efficacy of behavioural treatments for tics.

The Impact of Tic Severity, Comorbidity and Peer Attachment on Quality of Life Outcomes and Functioning in Tourette's Syndrome: Parental Perspectives.

PubMed

O'Hare, Deirdre; Helmes, Edward; Eapen, Valsamma; Grove, Rachel; McBain, Kerry; Reece, John

2016-08-01

The aim of this controlled, community-based study based on data from parents of youth (aged 7-16 years) with Tourette's syndrome (TS; n = 86) and parents of age and gender matched peers (n = 108) was to test several hypotheses involving a range of variables salient to the TS population, including peer attachment, quality of life, severity of tics, comorbidity, and psychological, behavioural and social dysfunction. Multivariate between-group analyses confirmed that TS group youth experienced lower quality of life, increased emotional, behavioural and social difficulties, and elevated rates of insecure peer attachment relative to controls, as reported by their primary caregiver. Results also confirmed the main hypothesis that security of peer attachment would be associated with individual variability in outcomes for youth with TS. As predicted, multivariate within-TS group analyses determined strong relationships among adverse quality of life outcomes and insecure attachment to peers, increased tic severity, and the presence of comorbid disorder. Findings suggest that youth with TS are at increased risk for insecure peer attachment and that this might be an important variable impacting the quality of life outcomes for those diagnosed.

Treatment strategies for tics in Tourette syndrome

PubMed Central

Eddy, Clare M.; Rickards, Hugh E.; Cavanna, Andrea E.

2011-01-01

Tourette syndrome (TS) is a chronic neurodevelopmental disorder characterized by tics: repetitive, involuntary movements and vocalizations. These symptoms can have a significant impact on patients’ daily functioning across many domains. Tics tend to be most severe in child and adolescent sufferers, so their presence has the potential to impact a period of life that is both critical for learning and is often associated with the experience of greater social tension and self-consciousness than adulthood. Furthermore, control over tics that lead to physical impairment or self-injurious behaviour is of vital importance in maintaining health and quality of life. There are numerous complicating factors in the prescription of treatment for tics, due to both the side effects associated with alleviating agents and patient characteristics, such as age and comorbid conditions. This review summarizes literature pertaining to the efficacy and safety of both traditionally prescribed and more modern medications. We also discuss the merits of behavioural and surgical techniques and highlight newer emerging treatments. Although treatment response is to some extent variable, there are a number of agents that are clearly useful as first-line treatments for TS. Other interventions may be of most benefit to patients exhibiting refractory tics or more specific symptom profiles. PMID:21339906

Clinical characteristics of adult patients with tics and/or Tourette's syndrome.

PubMed

Ohta, Masataka; Kano, Yukiko

2003-12-01

This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 males and 3 females) at our outpatient clinic were examined. The mean follow-up period of the patients was 7.6 years (SD: 8.1; 0 to 26). All the data available for this study, including medical charts, were examined systematically by two experienced child psychiatrists. The adult patients with tic disorders could be classified into the four groups: group A - tics only, group B - tics + comorbidities, group C - comorbidities only and group D - sub-clinical (remission) cases. Our 31 subjects consisted of 10 patients (32.3%) for group A, 14 (45.2%) for group B, 7 (22.6%) for group C, and 0 for group D. Further investigation into the natural course and clinical characteristics of adult TS needs to be done in order to acquire a better understanding of the broad spectrum of TS and to make improvements to the treatment for this illness.

Characteristics of Executive Functioning in a Small Sample of Children With Tourette Syndrome.

PubMed

Schwam, Dina M; King, Tricia Z; Greenberg, Daphne

2015-01-01

Tourette syndrome (TS) is a disorder that involves at least one vocal tic and two or more motor tics; however, associated symptoms of obsessive-compulsive disorder (OCD) and attention-deficit disorder or attention-deficit hyperactivity disorder (ADHD) are common. Many children with TS exhibit educational difficulties and one possible explanation may be deficits in executive functioning. The focus of this study was to look at the severity of symptoms often associated with TS (tics and OCD and ADHD symptoms) and its potential relationship with the Behavior Rating Inventory of Executive Function (BRIEF) Parent Form in 11 children diagnosed with TS aged 8 to 14 years old. The parent of the child completed the BRIEF along with symptom measures evaluating tics, OCD behaviors, and ADHD symptoms. Despite relatively low mean scores on the symptom measures and just a few children exhibiting clinically significant scores on the BRIEF indexes, at least half the children exhibited abnormal scores on the Working Memory, Inhibit, and Shift subscales of the BRIEF. Varying patterns of relationships were found on the BRIEF subscales for each symptom severity scale. Results suggest that the BRIEF may be useful in determining the specific areas of difficulty in a population with variable symptomatology.

Gilles de la Tourette's syndrome in special education schools: a United Kingdom study.

PubMed

Eapen, V; Robertson, M M; Zeitlin, H; Kurlan, R

1997-06-01

In order to determine the prevalence of tic disorders in children with severe school problems requiring a residential facility and comparison groups of children in regular day schools, we performed direct clinical examinations for the presence of tics and Gilles de la Tourette's syndrome (GTS) in 20 children from a residential school for emotional and behavioral difficulties (EBD); 25 children from a residential school for learning disabilities; 17 "problem" children (PC) (identified by teachers as having academic or behaviour problems) and 19 normal children (NC) selected at random (using random numbers) from a regular school. Of the EBD students, 65% were judged to have definite tics as compared with 24% of students with learning difficulties (P < 0.05), 6% of PC (P < 0.003) and none of the NC (P < 0.0006) group. Most of the affected students met diagnostic criteria for GTS. Our findings suggest that GTS is commonly associated with the need for special education and that this association is particularly robust for children with severe school problems. In these children, the presence of tics may be an indicator of an underlying dysfunction of neurological development.

Association of cortical disinhibition with tic, ADHD, and OCD severity in Tourette syndrome.

PubMed

Gilbert, Donald L; Bansal, Alok S; Sethuraman, Gopalan; Sallee, Floyd R; Zhang, Jie; Lipps, Tara; Wassermann, Eric M

2004-04-01

Hyperkinetic disorders may involve excess excitatory output from thalamus to cerebral cortex. Case-control, neurophysiological studies in persons with Tourette Syndrome (TS), Attention Deficit Hyperactivity Disorder (ADHD), and Obsessive-Compulsive Disorder (OCD) support this model. To compare the strength of association between motor cortex inhibition and tic, ADHD, and OCD severity in TS, we used transcranial magnetic stimulation to measure motor cortex inhibition in 36 children and adults with TS. Current symptom severity was assessed with standard clinical rating scales and compared with neurophysiological measures using correlational and multivariate regression analyses. Severity of ADHD symptoms and motor tics were associated significantly and independently with short interval intracortical inhibition (SICI) (r(2) = 0.50; F[2,27] = 13.7; P < 0.001), particularly in subjects not taking neuroleptics (r(2) = 0.68; F[2,17] = 17.8; P < 0.0001). The correlation of cortical disinhibition was greater with ADHD symptoms severity (r = 0.53; P = 0.003) than with tic severity (r = 0.42; P = 0.02), suggesting that in TS, the association between SICI and ADHD symptoms may be more consistent or direct than the association between SICI and tics. Copyright 2004 Movement Disorder Society

The bird dancer and the warrior king: Divergent lived experiences of Tourette syndrome in Bali.

PubMed

Lemelson, Robert; Tucker, Annie

2017-08-01

In the past two decades, ethnographic, epidemiological and interdisciplinary research has robustly established that culture is significant in determining the long-term outcomes of people with neurodevelopmental, neuropsychiatric and mood disorders. Yet these cultural factors are certainly not uniform across discrete individual experiences. Thus, in addition to illustrating meaningful differences for people with neuropsychiatric disorder between different cultures, ethnography should also help detail the variations within a culture. Different subjective experiences or outcomes are not solely due to biographical idiosyncrasies-rather, influential factors arising from the same culture can have different impacts on different people. When taking a holistic and intersectional perspective on lived experience, it is crucial to understand the interaction of these factors for people with neuropsychiatric disorders. This paper teases apart such interactions, utilizing comparative case studies of the disparate subjective experiences and illness trajectories of two Balinese people with Tourette syndrome who exhibit similar symptoms. Based on longitudinal person-centered ethnography integrating clinical, psychological, and visual anthropology, this intersectional approach goes beyond symptom interpretation and treatment modalities to identify gendered embodiment and marital practices as influenced by caste to be significant determinants in subjective experience and long-term outcome.

Influence of gender on Tourette syndrome beyond adolescence.

PubMed

Lichter, D G; Finnegan, S G

2015-02-01

Although boys are disproportionately affected by tics in Tourette syndrome (TS), this gender bias is attenuated in adulthood and a recent study has suggested that women may experience greater functional interference from tics than men. The authors assessed the gender distribution of adults in a tertiary University-based TS clinic population and the relative influence of gender and other variables on adult tic severity (YGTSS score) and psychosocial functioning (GAF score). We also determined retrospectively the influence of gender on change in global tic severity and overall TS impairment (YGTSS) since adolescence. Females were over-represented in relation to previously published epidemiologic surveys of both TS children and adults. Female gender was associated with a greater likelihood of tic worsening as opposed to tic improvement in adulthood; a greater likelihood of expansion as opposed to contraction of motor tic distribution; and with increased current motor tic severity and tic-related impairment. However, gender explained only a small percentage of the variance of the YGTSS global severity score and none of the variance of the GAF scale score. Psychosocial functioning was influenced most strongly by tic severity but also by a variety of comorbid neuropsychiatric disorders. Published by Elsevier Masson SAS.

Prevalence of stuttering.

PubMed Central

Porfert, A R; Rosenfield, D B

1978-01-01

The prevalence of stuttering in a university population was 2.1%; 3.4% were former stutterers. More men than women stuttered. Right handed female stutterers were less likely to have "lost" their stutter than were right handed males. Stutterers, past stutterers, and questionable stutterers all had a family history of stuttering. The significant prevalence of stuttering, the increased prevalence among males, the lack of a decline of this disorder over the past few decades despite the increased number of speech clinicians and data concerning handedness, emphasise the need to investigate organic causes of stuttering. PMID:731247

Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings.

PubMed

Dichter, Gabriel S; Damiano, Cara A; Allen, John A

2012-07-06

This review summarizes evidence of dysregulated reward circuitry function in a range of neurodevelopmental and psychiatric disorders and genetic syndromes. First, the contribution of identifying a core mechanistic process across disparate disorders to disease classification is discussed, followed by a review of the neurobiology of reward circuitry. We next consider preclinical animal models and clinical evidence of reward-pathway dysfunction in a range of disorders, including psychiatric disorders (i.e., substance-use disorders, affective disorders, eating disorders, and obsessive compulsive disorders), neurodevelopmental disorders (i.e., schizophrenia, attention-deficit/hyperactivity disorder, autism spectrum disorders, Tourette's syndrome, conduct disorder/oppositional defiant disorder), and genetic syndromes (i.e., Fragile X syndrome, Prader-Willi syndrome, Williams syndrome, Angelman syndrome, and Rett syndrome). We also provide brief overviews of effective psychopharmacologic agents that have an effect on the dopamine system in these disorders. This review concludes with methodological considerations for future research designed to more clearly probe reward-circuitry dysfunction, with the ultimate goal of improved intervention strategies.

Signs of developmental stuttering up to age eight and at 12 plus.

PubMed

Howell, Peter

2007-04-01

Clinicians who are familiar with the general DSM-IV-TR scheme may want to know how to identify whether a child does, or (equally importantly) does not, stutter and what differences there are in the presenting signs for children of different ages. This article reviews and discusses topics in the research literature that have a bearing on these questions. The review compared language, social-environmental and host factors of children who stutter across two age groups (up to age eight and 12 plus). Dysfluency types mainly involved repetition of one or more whole function words up to age eight whereas at age 12 plus, dysfluency on parts of content words often occurred. Twin studies showed that environmental and host factors were split roughly 30/70 for both ages. Though the disorder is genetically transmitted, the mode of transmission is not known at present. At the earlier age, there were few clearcut socio-environmental influences. There were, however, some suggestions of sensory (high incidence of otitis media with effusion) and motor differences (high proportion of left-handed individuals in the stuttering group relative to norms) compared to control speakers. At age 12 plus, socio-environmental influences (like state anxiety) occurred in the children who persist, but were not evident in the children who recover from the disorder. Brain scans at the older age show some replicable abnormality in the areas connecting motor and sensory areas in speakers who stutter. The topics considered in the discussion return to the question of how to identify whether a child does or does not stutter. The review identifies extra details that might be considered to improve the classification of stuttering (e.g. sensory and motor assessments). Also, some age-dependent factors and processes are identified (such as change in dysfluency type with age). Knowing the distinguishing features of the disorder allows it to be contrasted with other disorders which show superficially similar features. Two or more disorders can co-occur for two reasons: comorbidity, where the child has two identifiable disorders (e.g. a child with Down Syndrome whose speech has been properly assessed and classed as stuttering). Ambiguous classifications, where an individual suffering from one disorder meets the criteria for one or more other disorders. One way DSM-IV-TR deals with the latter is by giving certain classification axes priority over others. The grounds for such superordinacy seem circular as the main role for allowing this appears to be to avoid such ambiguities.

Signs of developmental stuttering up to age eight and at 12 plus

PubMed Central

Howell, Peter

2007-01-01

Clinicians who are familiar with the general DSM-IV-TR scheme may want to know how to identify whether a child does, or (equally importantly) does not, stutter and what differences there are in the presenting signs for children of different ages. This article reviews and discusses topics in the research literature that have a bearing on these questions. The review compared language, social–environmental and host factors of children who stutter across two age groups (up to age eight and 12 plus). Dysfluency types mainly involved repetition of one or more whole function words up to age eight whereas at age 12 plus, dysfluency on parts of content words often occurred. Twin studies showed that environmental and host factors were split roughly 30/70 for both ages. Though the disorder is genetically transmitted, the mode of transmission is not known at present. At the earlier age, there were few clearcut socio-environmental influences. There were, however, some suggestions of sensory (high incidence of otitis media with effusion) and motor differences (high proportion of left-handed individuals in the stuttering group relative to norms) compared to control speakers. At age 12 plus, socio-environmental influences (like state anxiety) occurred in the children who persist, but were not evident in the children who recover from the disorder. Brain scans at the older age show some replicable abnormality in the areas connecting motor and sensory areas in speakers who stutter. The topics considered in the discussion return to the question of how to identify whether a child does or does not stutter. The review identifies extra details that might be considered to improve the classification of stuttering (e.g. sensory and motor assessments). Also, some age-dependent factors and processes are identified (such as change in dysfluency type with age). Knowing the distinguishing features of the disorder allows it to be contrasted with other disorders which show superficially similar features. Two or more disorders can co-occur for two reasons: comorbidity, where the child has two identifiable disorders (e.g. a child with Down Syndrome whose speech has been properly assessed and classed as stuttering). Ambiguous classifications, where an individual suffering from one disorder meets the criteria for one or more other disorders. One way DSM-IV-TR deals with the latter is by giving certain classification axes priority over others. The grounds for such superordinacy seem circular as the main role for allowing this appears to be to avoid such ambiguities. PMID:17156904

General vulnerability to stuttering: The experience of stuttering and conditions bringing about invulnerability.

PubMed

Briley, P M; Kalinowski, J S

2016-08-01

General vulnerability to stuttering is the broad awareness of stuttering and the ever-present, experiential sense of a person who stutters (PWS). It is defined by stuttering in all its forms and the awareness of its presence, both in moments of stuttering and moments of perceivably fluent speech. Under the heading of general vulnerability to stuttering is specific vulnerability to stuttering, which includes the actual events of stuttering (i.e., overt symptoms, covert symptoms, subperceptual stuttering, and anticipation of stuttering). The differentiation between the two is that specific vulnerability requires a specific moment of stuttering where general vulnerability does not. Copyright © 2016 Elsevier Ltd. All rights reserved.

Stuttering Frequency, Speech Rate, Speech Naturalness, and Speech Effort During the Production of Voluntary Stuttering.

PubMed

Davidow, Jason H; Grossman, Heather L; Edge, Robin L

2018-05-01

Voluntary stuttering techniques involve persons who stutter purposefully interjecting disfluencies into their speech. Little research has been conducted on the impact of these techniques on the speech pattern of persons who stutter. The present study examined whether changes in the frequency of voluntary stuttering accompanied changes in stuttering frequency, articulation rate, speech naturalness, and speech effort. In total, 12 persons who stutter aged 16-34 years participated. Participants read four 300-syllable passages during a control condition, and three voluntary stuttering conditions that involved attempting to produce purposeful, tension-free repetitions of initial sounds or syllables of a word for two or more repetitions (i.e., bouncing). The three voluntary stuttering conditions included bouncing on 5%, 10%, and 15% of syllables read. Friedman tests and follow-up Wilcoxon signed ranks tests were conducted for the statistical analyses. Stuttering frequency, articulation rate, and speech naturalness were significantly different between the voluntary stuttering conditions. Speech effort did not differ between the voluntary stuttering conditions. Stuttering frequency was significantly lower during the three voluntary stuttering conditions compared to the control condition, and speech effort was significantly lower during two of the three voluntary stuttering conditions compared to the control condition. Due to changes in articulation rate across the voluntary stuttering conditions, it is difficult to conclude, as has been suggested previously, that voluntary stuttering is the reason for stuttering reductions found when using voluntary stuttering techniques. Additionally, future investigations should examine different types of voluntary stuttering over an extended period of time to determine their impact on stuttering frequency, speech rate, speech naturalness, and speech effort.

Paroxysmal myoclonic dystonia with vocalisations: new entity or variant of preexisting syndromes?

PubMed Central

Feinberg, T E; Shapiro, A K; Shapiro, E

1986-01-01

From among 1377 patients with movement disorders, four patients had an unusual movement disorder characterised by paroxysmal bursts of involuntary, regular, repetitive, rhythmic, bilateral, coordinated, simultaneous, stereotypic myoclonus and vocalisations, often associated with tonic symptoms, interference with voluntary functioning, presence of hyperactivity, attention and learning disabilities, and resistance to treatment with haloperidol and other drugs. This symptom complex may represent a new disease entity, referred to here as paroxysmal myoclonic dystonia with vocalisations or a variant or combination of other movement disorders such as Gilles de la Tourette, myoclonic, or dystonic syndromes. PMID:3457101

Functional Behavioral Assessment and Positive Interventions: What Parents Need to Know. Alliance Action Information Sheets

ERIC Educational Resources Information Center

Jordan, Dixie

2005-01-01

Many children have inappropriate behaviors that are part of their disability. These behaviors may make it difficult to learn, cause harm to the child or others, or isolate a child from his or her peers. Some children have behaviors that they can't control, such as tics for a child with Tourette syndrome or self-harming behaviors for some children…

Neural correlates of behavior therapy for Tourette's disorder.

PubMed

Deckersbach, Thilo; Chou, Tina; Britton, Jennifer C; Carlson, Lindsay E; Reese, Hannah E; Siev, Jedidiah; Scahill, Lawrence; Piacentini, John C; Woods, Douglas W; Walkup, John T; Peterson, Alan L; Dougherty, Darin D; Wilhelm, Sabine

2014-12-30

Tourette's disorder, also called Tourette syndrome (TS), is characterized by motor and vocal tics that can cause significant impairment in daily functioning. Tics are believed to be due to failed inhibition of both associative and motor cortico-striato-thalamo-cortical pathways. Comprehensive Behavioral Intervention for Tics (CBIT), which is an extension of Habit Reversal Therapy (HRT), teaches patients to become more aware of sensations that reliably precede tics (premonitory urges) and to initiate competing movements that inhibit the occurrence of tics. In this study, we used functional magnetic resonance imaging (fMRI) to investigate the neural changes associated with CBIT treatment in subjects with TS. Eight subjects with TS were matched with eight healthy controls in gender, education, age, and handedness. Subjects completed the Visuospatial Priming (VSP) task, a measure of response inhibition, during fMRI scanning before and after CBIT treatment (or waiting period for controls). For TS subjects, we found a significant decrease in striatal (putamen) activation from pre- to post-treatment. Change in VSP task-related activation from pre- to post-treatment in Brodmann's area 47 (the inferior frontal gyrus) was negatively correlated with changes in tic severity. CBIT may promote normalization of aberrant cortico-striato-thalamo-cortical associative and motor pathways in individuals with TS. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Pioneers of movement disorders: Georges Gilles de la Tourette.

PubMed

Krämer, H; Daniels, C

2004-06-01

Georges Albert Edouard Brutus Gilles de la Tourette (1857-1904), a French neurologist and pupil of Jean Martin Charcot at the Salpêtrière hospital in Paris, has gained common recognition through his description of the 'Maladie des Tics'. This complex neuropsychiatric disorder, later known as the 'Tourette's syndrome', nowadays is accepted as a specific entity of movement disorders. Gilles had started working under Charcot (1825-1893), the first physician to occupy a designated chair of neurology of neuropsychiatric history, in 1884. Then the Salpêtrière hospital was a centre of intensive research with an emphasis on hysteria and hypnosis. Tourette took an interest in hysteria, but also dedicated himself to various other neuropsychiatric disorders and to neuropathology. He published scientific works on epilepsia, neurasthenia and syphilitic myelitis. Although he devoted much time to his neuropsychiatric research and the publication of articles in medical journals, his career did not make significant progress, despite Charcot's unrestricted support. One reason was, that he disregarded questions, answers and problems, which were outside his interest fields. Hence, he was accused for having acquired an extremely filtered and one-sided knowledge. Also, his alienated and critical behaviour, which had not helped him to find many friends over the years, prevented him from professional promotion. In 1893 an assassination attempt on Gilles de la Tourette raised considerable public interest: Gilles was shot in his appartement in the Rue de l'Université 39 by a young woman, who had been his patient in the Salpêtrière and who claimed that she had been hypnotized without her agreement and thereby had lost her mental health. However, the patient was diagnosed with a disease nowadays called paranoid schizophrenia and therefore hypnosis was not attributed to any part of the disease. Due to episodes of melancholia and phases of delusions of grandeur and megalomania Gilles de la Tourette was forced to leave his hospital appointment in 1901. These symptoms and the corresponding neurological signs were attributed to the paretic neurosyphilis. He was institutionalized to the psychiatric hospital Cery near Lausanne, Switzerland. In the course of the following three years he became increasingly psychotic and demented, suffered from epileptic seizures and finally died in hospital on 22nd May 1904.

Stuttering at school: the effect of a teacher training program on stuttering.

PubMed

Silva, Lorene Karoline; Martins-Reis, Vanessa de Oliveira; Maciel, Thamiris Moreira; Ribeiro, Jessyca Kelly Barbosa Carneiro; Souza, Marina Alves de; Chaves, Flávia Gonçalves

2016-07-04

Verify the knowledge of teachers from public and private schools about stuttering and attest the effectiveness of the Teacher Training Program on Stuttering in the expansion of this knowledge. The study sample comprised 137 early-childhood teachers. Initially, the teachers responded to a questionnaire on stuttering. After that, 75 teachers attended a 4-hour Teacher Training Program on Stuttering. One month later, the teachers responded to the same questionnaire again. The following points were observed after the training program: increased percentage of teachers who consider as low the prevalence of stuttering in the population; beginning of reports stating that stuttering is more frequent in males; increased number of teachers who consider stuttering hereditary; decreased incidence of teachers who believe stuttering is psychological; prevalence of those who believe stuttering is a consequence of multiple causes; decreased rate of teachers who believe stuttering is emotional; a better understanding of how educators should behave to help stutterers. Before the course, the teachers had some knowledge regarding stuttering, but it was insufficient to differentiate from other language disorders. The Program expanded their knowledge on stuttering. However, it proved to be more effective with respect to the characteristics of stuttering than to the attitudes of the teachers.

Perceptions of university instructors toward students who stutter: a quantitative and qualitative approach.

PubMed

Daniels, Derek E; Panico, James; Sudholt, Jennifer

2011-01-01

Many research studies have focused on perceptions of stuttering by various groups of people. However, there is limited research on the perceptions of university instructors toward stuttering and people who stutter. Therefore, this study explored the perceptions of university instructors toward stuttering and students who stutter, and their beliefs about classroom participation. Participants included 328 university instructors across a variety of disciplines at two Midwestern universities. Each participant completed a 12-item questionnaire regarding perceptions related to stuttering, students who stutter, and classroom participation. Of the 328 participants, 212 completed an open-ended question about their experiences and concerns of working with students who stutter. Results indicated that increased knowledge of stuttering is associated with positive attitudes toward students who stutter. Moreover, the participants in this study expressed a need for more information about stuttering and ways to accommodate students who stutter in the classroom. After reading this article, the reader will be able to: (1) discuss the challenges that university instructors face when working with students with disabilities; (2) provide a rationale for the need to explore the perceptions of university instructors toward students who stutter; (3) describe the major themes of university instructors' knowledge of stuttering, and beliefs about classroom participation for students who stutter; and (4) discuss the need for disseminating more knowledge about stuttering to university instructors. Copyright © 2011 Elsevier Inc. All rights reserved.

Quality of Life in Youth with Tourette's Syndrome and Chronic Tic Disorder

ERIC Educational Resources Information Center

Storch, Eric A.; Merlo, Lisa J.; Lack, Caleb; Milsom, Vanessa A.; Geffken, Gary R.; Goodman, Wayne K.; Murphy, Tanya K.

2007-01-01

This study sought to examine quality of life (QoL) in clinic-referred children and adolescents (n = 59, M age = 11.4[plus or minus]2.6 years) with a chronic tic disorder. The QoL scores for tic patients were lower than for healthy controls but higher than for the psychiatric sample on the majority of domains. Children's self-reported QoL scores…

The neural correlates of tic inhibition in Gilles de la Tourette syndrome.

PubMed

Ganos, Christos; Kahl, Ursula; Brandt, Valerie; Schunke, Odette; Bäumer, Tobias; Thomalla, Götz; Roessner, Veit; Haggard, Patrick; Münchau, Alexander; Kühn, Simone

2014-12-01

Tics in Gilles de la Tourette syndrome (GTS) resemble fragments of normal motor behaviour but appear in an intrusive, repetitive and context-inappropriate manner. Although tics can be voluntarily inhibited on demand, the neural correlates of this process remain unclear. 14 GTS adults without relevant comorbidities participated in this study. First, tic severity and voluntary tic inhibitory capacity were evaluated outside the scanner. Second, patients were examined with resting state functional magnetic resonance imaging (RS-fMRI) in two states, free ticcing and voluntary tic inhibition. Local synchronization of spontaneous fMRI-signal was analysed with regional homogeneity (ReHo) and differences between both states (free ticcing

Subjective versus objective measures of tic severity in Tourette syndrome - The influence of environment.

PubMed

Barnea, Meirav; Benaroya-Milshtein, Noa; Gilboa-Sechtman, Eva; Woods, Douglas W; Piacentini, John; Fennig, Silvana; Apter, Alan; Steinberg, Tamar

2016-08-30

The objective of this study was to examine the influence of environmental challenges on tic expression by subjective and objective measures. The study group consisted of 41 children aged 6-18 years (M=10.15, SD=2.73) with a primary diagnosis of Tourette syndrome. Subjective measures included the Functional Assessment Interview developed for this study and three standard validated instruments. The objective measure was a video-recording of the patients in five daily-life situations: watching television, doing homework, being alone, receiving attention when ticcing, and talking to a stranger. In addition, the effect of premonitory urges on assessment of tic expression was evaluated. The associations between the subjective and objective measures of tic expression were moderate to low. A significantly higher number of tics were observed in the television situation, and a significantly lower number in the alone situation, compared to the other situations. Higher levels of premonitory urge were associated with greater awareness of objectively measured tic expression. In conclusion, tic expression is significantly influenced by the environment. Subjective measures of tic expression may be misleading. These results have implications for refining the clinical assessment of tics, improving research methodology, and developing new therapeutic strategies. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Role of the Sensorimotor Cortex in Tourette Syndrome using Multimodal Imaging

PubMed Central

Tinaz, Sule; Belluscio, Beth A.; Malone, Patrick; van der Veen, Jan Willem; Hallett, Mark; Horovitz, Silvina G.

2016-01-01

Tourette syndrome (TS) is a neuropsychiatric disorder characterized by motor and vocal tics. Most patients describe uncomfortable premonitory sensations preceding the tics and a subjective experience of increased sensitivity to tactile stimuli. These reports indicate that a sensory processing disturbance is an important component of TS together with motor phenomena. Thus, we focused our investigation on the role of the sensorimotor cortex (SMC) in TS using multimodal neuroimaging techniques. We measured the gamma-aminobutyric acid (GABA)+/Creatine (Cre) ratio in the SMC using GABA 1H magnetic resonance spectroscopy. We recorded the baseline beta activity in the SMC using magnetoencephalography and correlated GABA+/Cre ratio with baseline beta band power. Finally, we examined the resting state functional connectivity (FC) pattern of the SMC using functional magnetic resonance imaging (fMRI). GABA+/Cre ratio in the SMC did not differ between patients and controls. Correlation between the baseline beta band power and GABA+/Cre ratio was abnormal in patients. The anterior insula showed increased FC with the SMC in patients. These findings suggest that altered limbic input to the SMC and abnormal GABA-mediated beta oscillations in the SMC may underpin some of the sensorimotor processing disturbances in TS and contribute to tic generation. PMID:25044024

Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD.

PubMed

Guo, Yi; Deng, Xiong; Zhang, Jie; Su, Linyan; Xu, Hongbo; Luo, Ziqiang; Deng, Hao

2012-05-23

Tourette syndrome/chronic tic phenotype (TS-CTD) is a neurological disorder manifested particularly by motor and vocal tics and associated with a variety of behavioral abnormalities. Recently, the mitochondrial ribosomal protein L3 gene (MRPL3) S75N, the DnaJ (Hsp40) homolog subfamily C member 13 gene (DNAJC13) A2057S, the orofacial cleft 1 candidate 1 gene (OFCC1) R129G and c.-5A>G variants are reported to be associated with Tourette syndrome/chronic tic phenotype (TS-CTD) in patients of European ancestry. To evaluate whether these variants are associated with TS-CTD in Chinese Han patients, we screened 132 Chinese Han patients from Mainland China. None of the 132 samples from patients with TS-CTD showed the MRPL3 S75N, DNAJC13 A2057S, OFCC1 R129G and c.-5A>G variants, and these variants probably are a rare cause of TS-CTD in a Chinese Han ethnic group. Genetic heterogeneity of TS should be considered and tests designed to detect these variants in Chinese Han ethnic group probably will not have a diagnostic utility in clinical practice. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Sensory phenomena related to tics, obsessive-compulsive symptoms, and global functioning in Tourette syndrome.

PubMed

Kano, Yukiko; Matsuda, Natsumi; Nonaka, Maiko; Fujio, Miyuki; Kuwabara, Hitoshi; Kono, Toshiaki

2015-10-01

Sensory phenomena, including premonitory urges, are experienced by patients with Tourette syndrome (TS) and obsessive-compulsive disorder (OCD). The goal of the present study was to investigate such phenomena related to tics, obsessive-compulsive symptoms (OCS), and global functioning in Japanese patients with TS. Forty-one patients with TS were assessed using the University of São Paulo Sensory Phenomena Scale (USP-SPS), the Premonitory Urge for Tics Scale (PUTS), the Yale Global Tic Severity Scale (YGTSS), the Dimensional Yale-Brown Obsessive-Compulsive Scale (DY-BOCS), and the Global Assessment of Functioning (GAF) Scale. USP-SPS and PUTS total scores were significantly correlated with YGTSS total and vocal tics scores. Additionally, both sensory phenomena severity scores were significantly correlated with DY-BOCS total OCS scores. Of the six dimensional OCS scores, the USP-SPS scores were significantly correlated with measures of aggression and sexual/religious dimensions. Finally, the PUTS total scores were significantly and negatively correlated with GAF scores. By assessing premonitory urges and broader sensory phenomena, and by viewing OCS from a dimensional approach, this study provides significant insight into sensory phenomena related to tics, OCS, and global functioning in patients with TS. Copyright © 2015 Elsevier Inc. All rights reserved.

"Not just right experiences" in patients with Tourette syndrome: complex motor tics or compulsions?

PubMed

Neal, Matthew; Cavanna, Andrea Eugenio

2013-12-15

Tourette syndrome (TS) is a chronic tic disorder often accompanied by specific obsessive-compulsive symptoms (OCS) or full-blown obsessive-compulsive disorder (OCD). Repetitive behaviours are commonly reported by patients with TS, who experience the urge to perform an action until it has been done "just right". This study investigated the clinical correlates of "not just right experiences" (NJREs) in this clinical population. A standardised battery of self-report psychometric measures was administered to 71 adult patients with TS recruited from a specialist TS clinic. NJREs were systematically screened for using the Not Just Right Experiences-Questionnaire Revised (NJRE-QR). The vast majority of patients in our clinical sample (n=57, 80%) reported at least one NJRE. Patients diagnosed with TS and co-morbid OCD/OCS (n=42, 59%) reported a significantly higher number of NJREs compared to TS patients without OCD/OCS. The strongest correlation was found between NJRE-QR scores and self-report measures of compulsivity. NJREs appear to be intrinsic to the clinical phenomenology of patients with TS and can present with higher frequency in the context of co-morbid OCD/OCS, suggesting they are more related to compulsions than tics. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Premonitory urges for tics in adult patients with Tourette syndrome.

PubMed

Crossley, Eleanor; Seri, Stefano; Stern, Jeremy S; Robertson, Mary M; Cavanna, Andrea E

2014-01-01

Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge for Tics Scale (PUTS, Woods et al., 2005 [13])-for the assessment of PUs in adult patients with TS. Standard statistical methods were applied to test the psychometric properties of the PUTS in 102 adult TS outpatients recruited from two specialist clinics in the United Kingdom. The PUTS showed good acceptability and endorsement rates, with evenly distributed scores and low floor and ceiling effects. Item-total correlations were moderate to strong; PUTS total scores were significantly correlated with quantitative measures of TS severity. The PUTS showed excellent internal consistency reliability (Cronbach's alpha=0.85) and Spearman's correlations demonstrated satisfactory convergent and discriminant validity. Although originally devised to assess urges to tic in young patients with TS, the PUTS demonstrated good psychometric properties in a large sample of adults recruited at specialist TS clinics. This instrument is therefore recommended for use across the life span as a valid and reliable self-report measure of sensory experiences accompanying tic expression. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Genome-wide association study of Tourette Syndrome

PubMed Central

Scharf, Jeremiah M.; Yu, Dongmei; Mathews, Carol A.; Neale, Benjamin M.; Stewart, S. Evelyn; Fagerness, Jesen A; Evans, Patrick; Gamazon, Eric; Edlund, Christopher K.; Service, Susan; Tikhomirov, Anna; Osiecki, Lisa; Illmann, Cornelia; Pluzhnikov, Anna; Konkashbaev, Anuar; Davis, Lea K; Han, Buhm; Crane, Jacquelyn; Moorjani, Priya; Crenshaw, Andrew T.; Parkin, Melissa A.; Reus, Victor I.; Lowe, Thomas L.; Rangel-Lugo, Martha; Chouinard, Sylvain; Dion, Yves; Girard, Simon; Cath, Danielle C; Smit, Jan H; King, Robert A.; Fernandez, Thomas; Leckman, James F.; Kidd, Kenneth K.; Kidd, Judith R.; Pakstis, Andrew J.; State, Matthew; Herrera, Luis Diego; Romero, Roxana; Fournier, Eduardo; Sandor, Paul; Barr, Cathy L; Phan, Nam; Gross-Tsur, Varda; Benarroch, Fortu; Pollak, Yehuda; Budman, Cathy L.; Bruun, Ruth D.; Erenberg, Gerald; Naarden, Allan L; Lee, Paul C; Weiss, Nicholas; Kremeyer, Barbara; Berrío, Gabriel Bedoya; Campbell, Desmond; Silgado, Julio C. Cardona; Ochoa, William Cornejo; Restrepo, Sandra C. Mesa; Muller, Heike; Duarte, Ana V. Valencia; Lyon, Gholson J; Leppert, Mark; Morgan, Jubel; Weiss, Robert; Grados, Marco A.; Anderson, Kelley; Davarya, Sarah; Singer, Harvey; Walkup, John; Jankovic, Joseph; Tischfield, Jay A.; Heiman, Gary A.; Gilbert, Donald L.; Hoekstra, Pieter J.; Robertson, Mary M.; Kurlan, Roger; Liu, Chunyu; Gibbs, J. Raphael; Singleton, Andrew; Hardy, John; Strengman, Eric; Ophoff, Roel; Wagner, Michael; Moessner, Rainald; Mirel, Daniel B.; Posthuma, Danielle; Sabatti, Chiara; Eskin, Eleazar; Conti, David V.; Knowles, James A.; Ruiz-Linares, Andres; Rouleau, Guy A.; Purcell, Shaun; Heutink, Peter; Oostra, Ben A.; McMahon, William; Freimer, Nelson; Cox, Nancy J.; Pauls, David L.

2012-01-01

Tourette Syndrome (TS) is a developmental disorder that has one of the highest familial recurrence rates among neuropsychiatric diseases with complex inheritance. However, the identification of definitive TS susceptibility genes remains elusive. Here, we report the first genome-wide association study (GWAS) of TS in 1285 cases and 4964 ancestry-matched controls of European ancestry, including two European-derived population isolates, Ashkenazi Jews from North America and Israel, and French Canadians from Quebec, Canada. In a primary meta-analysis of GWAS data from these European ancestry samples, no markers achieved a genome-wide threshold of significance (p<5 × 10−8); the top signal was found in rs7868992 on chromosome 9q32 within COL27A1 (p=1.85 × 10−6). A secondary analysis including an additional 211 cases and 285 controls from two closely-related Latin-American population isolates from the Central Valley of Costa Rica and Antioquia, Colombia also identified rs7868992 as the top signal (p=3.6 × 10−7 for the combined sample of 1496 cases and 5249 controls following imputation with 1000 Genomes data). This study lays the groundwork for the eventual identification of common TS susceptibility variants in larger cohorts and helps to provide a more complete understanding of the full genetic architecture of this disorder. PMID:22889924

Use of levetiracetam to treat tics in children and adolescents with Tourette syndrome.

PubMed

Awaad, Yasser; Michon, Anne Marie; Minarik, Sarah

2005-06-01

Some drugs currently used to treat tics in pediatric patients have drawbacks, including the risk of side effects. New therapeutic options with better safety profiles are needed. Levetiracetam is an antiepileptic drug with atypical mechanisms of action that might be beneficial for this indication. We evaluated the effects of levetiracetam on motor and vocal tics, behavior, and school performance in children and adolescents with tics and Tourette syndrome (TS). Sixty patients, < or =18 years of age, with tics and TS were enrolled in this prospective, open-label study. The initial starting dose of levetiracetam was 250 mg/day. The dosage was titrated over 3 weeks to 1,000 to 2,000 mg/day. Clinical outcomes were assessed with the Clinical Global Impression Scale, Yale Global Tic Severity Scale, and Revised Conners' Parent Rating Scale. Behavior and school performance were also recorded. All 60 patients showed improvements based on all of the scales used, and 43 patients improved with regard to behavior and school performance. Levetiracetam was generally well tolerated. Three patients discontinued treatment because of exaggeration of preexisting behavioral problems. Levetiracetam may be useful in treating tics in children and adolescents. Given its established safety profile, levetiracetam is a candidate for evaluation in a well-controlled trial. (c) 2005 Movement Disorder Society.

The impact of tics, obsessive-compulsive symptoms, and impulsivity on global functioning in Tourette syndrome.

PubMed

Kano, Yukiko; Kono, Toshiaki; Matsuda, Natsumi; Nonaka, Maiko; Kuwabara, Hitoshi; Shimada, Takafumi; Shishikura, Kurie; Konno, Chizue; Ohta, Masataka

2015-03-30

This study investigated the relationships between tics, obsessive-compulsive symptoms (OCS), and impulsivity, and their effects on global functioning in Japanese patients with Tourette syndrome (TS), using the dimensional approach for OCS. Fifty-three TS patients were assessed using the Yale Global Tic Severity Scale, the Dimensional Yale-Brown Obsessive-Compulsive Scale, the Impulsivity Rating Scale, and the Global Assessment of Functioning Scale. Although tic severity scores were significantly and positively correlated with OCS severity scores, impulsivity severity scores were not significantly correlated with either. The global functioning score was significantly and negatively correlated with tic and OCS severity scores. Of the 6 dimensional OCS scores, only aggression scores had a significant negative correlation with global functioning scores. A stepwise multiple regression analysis showed that only OCS severity scores were significantly associated with global functioning scores. Despite a moderate correlation between tic severity and OCS severity, the impact of OCS on global functioning was greater than that of tics. Of the OCS dimensions, only aggression had a significant impact on global functioning. Our findings suggest that it is important to examine OCS using a dimensional approach when analyzing global functioning in TS patients. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Tourette's syndrome in a special education population: a pilot study involving a single school district.

PubMed

Kurlan, R; Whitmore, D; Irvine, C; McDermott, M P; Como, P G

1994-04-01

To determine whether children requiring special education represent a high-risk group for identifying Tourette's syndrome (TS), we performed direct examinations for the presence of tics in 35 special education and 35 regular classroom students from a single school district. Of the special education students, nine (26%) had definite or probable tics as compared with only two (6%) of the regular classroom students. About one-third of the students with tics currently meet diagnostic criteria for TS and probably more will do so in the future. About one-half of the subjects with tics have evidence of obsessive-compulsive behavior (OCB) or an attention-deficit hyperactivity disorder (ADHD). For three randomly selected students with definite tics, direct examinations of first-degree relatives revealed the presence of tics in all families. Subjects to the limitations of this pilot study, we conclude that TS and related tic disorders are commonly associated with the need for special education in this single school district. TS might also be an important contributor to school problems in the childhood population at large and may be a highly prevalent condition. In addition, we conclude that childhood tics are associated with OCB and ADHD, are genetically determined, and are part of the TS clinical spectrum.

Tic Related Activity Restriction as a Predictor of Emotional Functioning and Quality of Life

PubMed Central

Conelea, Christine A.; Busch, Andrew M.; Catanzaro, Mark A.; Budman, Cathy L.

2013-01-01

Objectives Tourette Syndrome (TS) is a chronic neuropsychiatric condition that frequently persists into adulthood. Existing research has identified demographic and symptom-level variables associated with psychopathology and poor quality of life in TS. However, behavior patterns associated with enhanced or adaptive psychological and global functioning among adults with TS have yet to be empirically identified. The current study examined whether tic-specific activity restriction is related to emotional functioning and quality of life in adults with TS. Methods Participants were 509 adults from the Tourette Syndrome Impact Survey who completed self-report measures of demographics, tic severity, emotional functioning, quality of life, and tic related general and social activity restriction. Results Partial correlations controlling for tic severity indicated that tic related general and social activity restriction were significantly correlated with lower quality of life and poorer emotional functioning. Hierarchical linear regression models indicated that activity restriction significantly predicted lower quality of life and poorer emotional functioning when controlling for tic severity and demographic variables. Conclusions Adults who restrict fewer activities due to tics, regardless of tic severity, experience greater quality of life and better emotional functioning. Clinically, adults with chronic tics may benefit from interventions focused on enhancing engagement in valued life activities. PMID:24156871

Electrophysiological correlates of reinforcement learning in young people with Tourette syndrome with and without co-occurring ADHD symptoms.

PubMed

Shephard, Elizabeth; Jackson, Georgina M; Groom, Madeleine J

2016-06-01

Altered reinforcement learning is implicated in the causes of Tourette syndrome (TS) and attention-deficit/hyperactivity disorder (ADHD). TS and ADHD frequently co-occur but how this affects reinforcement learning has not been investigated. We examined the ability of young people with TS (n=18), TS+ADHD (N=17), ADHD (n=13) and typically developing controls (n=20) to learn and reverse stimulus-response (S-R) associations based on positive and negative reinforcement feedback. We used a 2 (TS-yes, TS-no)×2 (ADHD-yes, ADHD-no) factorial design to assess the effects of TS, ADHD, and their interaction on behavioural (accuracy, RT) and event-related potential (stimulus-locked P3, feedback-locked P2, feedback-related negativity, FRN) indices of learning and reversing the S-R associations. TS was associated with intact learning and reversal performance and largely typical ERP amplitudes. ADHD was associated with lower accuracy during S-R learning and impaired reversal learning (significantly reduced accuracy and a trend for smaller P3 amplitude). The results indicate that co-occurring ADHD symptoms impair reversal learning in TS+ADHD. The implications of these findings for behavioural tic therapies are discussed. Copyright © 2016 ISDN. Published by Elsevier Ltd. All rights reserved.

Atomoxetine Treatment of ADHD in Tourette Syndrome: Reduction in Motor Cortex Inhibition Correlates with Clinical Improvement

PubMed Central

Gilbert, Donald L.; Zhang, Jie; Lipps, Tara D.; Natarajan, Nina; Brandyberry, Jared; Wang, Zhewu; Sallee, F. Randy; Wassermann, Eric M.

2007-01-01

Objective: In children with Attention Deficit Hyperactivity Disorder (ADHD), clinical responses to the selective norepinephrine reuptake inhibitor atomoxetine (ATX) vary. We sought to determine in children with Tourette Syndrome (TS) whether clinical responses correlate with changes in short interval cortical inhibition (SICI). Methods: Fourteen children, ages 8 to 16, with ADHD and TS were treated open-label with ATX for one month. ADHD rating scale scores and SICI, measured with paired-pulse Transcranial Magnetic Stimulation (pTMS), were assessed blindly and independently at treatment onset and one month later. Results: Eleven children, mean ADHD Rating Scale scores 31.8 (SD 8.2) at onset completed the study. After one month, ADHDRS changes ranged from an increase of 4 points to a decrease (improvement) of 24 points (mean change -9.6, SD 9.1). The changes in ADHDRS scores correlated with reduction in SICI (r = .74, p = .010). Conclusions: In children with TS, one month of atomoxetine treatment appears to induce correlated improvements in ADHD and, paradoxically, further reductions in cortical inhibition. Significance: PTMS-evoked SICI in ADHD with TS may be a biomarker of both deficiency and compensatory changes within cortical interneuronal systems. Effective atomoxetine treatment may augment compensatory processes and thereby reduce SICI. PMID:17588810

Plasma-free homovanillic acid: within- and across-day stability in children and adults with Tourette's syndrome.

PubMed

Riddle, M A; Leckman, J F; Anderson, G M; Ort, S I; Hardin, M T; Stevenson, J; Cohen, D J

1987-06-01

Within- and across-day stability of plasma-free homovanillic acid (pHVA) was assessed in children and adults with Tourette's syndrome. A diurnal fall in pHVA was observed in 13 of 15 subjects. There was a small but significant (p less than .0001) decrease (8%) in mean morning pHVA levels obtained just 20 minutes apart (8:30 A.M. and 8:50 A.M.). A substantial and significant (p less than .001) mean decrease in pHVA (25%) was observed when samples obtained between 8:00 and 8:30 A.M. were compared with samples obtained at 12:00 noon. Changes in pHVA levels observed during the afternoon (between 12:00 noon and 4:00 P.M.) were small, nondirectional, and nonsignificant. Repeated measurement of morning pHVA in the same individual after 24 or more hours revealed marked increases or decreases in many individuals, suggesting that morning pHVA is not a stable measure. The results of this and previous studies suggest that pHVA obtained at 12:00 noon or later in the day may be a more reliable measure of centrally produced HVA. Further studies are needed regarding the stability of pHVA over time.

[Family-based association study of a variable number of tandem repeat polymorphism of DAT1 gene with Tourette syndrome in a Chinese Han population].

PubMed

Zheng, Lanlan; Han, Zhen-liang; Zhang, Xin-hua; Wang, Xue-qin; Jiang, Wei-hua; Yi, Ming-ji; Liu, Shi-guo

2013-10-01

To assess the association of a 40 bp variable number of tandem repeat (VNTR) polymorphism within 3 untranslated region of dopamine transporter gene (DAT1) with Tourette syndrome (TS) in a Chinese Han population. A total of 160 TS patients and their parents were recruited. The VNTR polymorphism was detected with polymerase chain reaction-VNTR analysis, and its association with TS and its subtypes were assessed through a family-based association study comprising transmission disequilibrium test (TDT) and haplotype relative risk (HRR) analysis. The repeat numbers at the DAT1 40 bp locus were 11, 10, 9, 7.5 and 7 among the patients and their parents, with the most common type being a 10-repeat allele. No significant association was detected between the polymorphism and TS (TDT: X ² = 0.472, df = 1, P = 0.583; HRR: X ² = 0.313, P = 0.576, OR = 0.855, 95%CI: 0.493-1.481). Our data suggested that the VNTR polymorphism of DAT1 gene is not associated with susceptibility to TS in Chinese Han population. However, our results are to be validated in larger sets of patients collected from other populations.

The Rorschach test and Gilles de la Tourette's syndrome: a pilot case-control study.

PubMed

Balottin, Umberto; Rossi, Maura; Rossi, Giorgio; Viganò, Lucia; Nanti, Marta; Salini, Silvia; Lanzi, Giovanni; Termine, Cristiano

2009-10-01

To date only three studies, all lacking a control group, have investigated the personality style underlying tic disorders or Tourette's syndrome (TS), using the projective Rorschach test. Despite the recent controversy about its proper use in clinical practice and research, the Rorschach test may be useful to explore personality organization in TS. The research hypothesis under investigation in this exploratory study was that young TS patients exhibit a peculiar personality organization, with significantly increased indicators of poor emotional control, aggression, anxiety and depression, on the Rorschach test, compared to healthy controls. We analyed the Rorschach protocols of 17 newly diagnosed paediatric TS patients and 17 age- and sex-matched healthy controls. Compared with the controls young TS patients recorded significantly lower mean percentages of F and F+ responses and a significantly higher number of FM and FC responses, thus showing reduced control of emotions and difficulty in integrating aggressivity. Furthermore, associations emerged between comorbidity with ADHD and increased emotional instability and between severity of tics and of OCD and a pattern of emotional hyper-control and application of rigid defensive mechanisms. These results seem to confirm the existence of a peculiar personality style in young TS patients and may have important implications, both pathogenetic and therapeutic.

A speech and psychological profile of treatment-seeking adolescents who stutter.

PubMed

Iverach, Lisa; Lowe, Robyn; Jones, Mark; O'Brian, Susan; Menzies, Ross G; Packman, Ann; Onslow, Mark

2017-03-01

The purpose of this study was to evaluate the relationship between stuttering severity, psychological functioning, and overall impact of stuttering, in a large sample of adolescents who stutter. Participants were 102 adolescents (11-17 years) seeking speech treatment for stuttering, including 86 boys and 16 girls, classified into younger (11-14 years, n=57) and older (15-17 years, n=45) adolescents. Linear regression models were used to evaluate the relationship between speech and psychological variables and overall impact of stuttering. The impact of stuttering during adolescence is influenced by a complex interplay of speech and psychological variables. Anxiety and depression scores fell within normal limits. However, higher self-reported stuttering severity predicted higher anxiety and internalizing problems. Boys reported externalizing problems-aggression, rule-breaking-in the clinical range, and girls reported total problems in the borderline-clinical range. Overall, higher scores on measures of anxiety, stuttering severity, and speech dissatisfaction predicted a more negative overall impact of stuttering. To our knowledge, this is the largest cohort study of adolescents who stutter. Higher stuttering severity, speech dissatisfaction, and anxiety predicted a more negative overall impact of stuttering, indicating the importance of carefully managing the speech and psychological needs of adolescents who stutter. Further research is needed to understand the relationship between stuttering and externalizing problems for adolescent boys who stutter. Copyright © 2016. Published by Elsevier Inc.

Secondary School Teachers' Beliefs, Attitudes, and Reactions to Stuttering.

PubMed

Adriaensens, Stefanie; Struyf, Elke

2016-04-01

The study identifies teachers' beliefs about and attitudes toward stuttering and explores to what extent these beliefs and attitudes prompt specific teachers' reactions to the stuttering of a student. Participants were teachers in secondary education in Flanders (Belgium), currently teaching an adolescent who stutters. They were the student's class teacher or instructed a course in which communication is important. Ten semistructured interviews were conducted and analyzed thematically. Teachers believed that (a) when peers do not react to the stuttering, the lesson is not disrupted by it, and the student who stutters participates in the lesson, stuttering is not necessarily a problem; (b) when attention is paid to it, stuttering can become a problem; (c) they try to react as little as possible to the stuttering; and (d) they seldom talk about the stuttering. Although teachers reported that they feel confident in how to deal with stuttering, and although it is possible that students who stutter do not feel the need to talk about their stuttering, teachers could consult their students on this matter. This way, they would acknowledge the stuttering and likely encourage the students to approach them when they feel the need.

DISFLUENCY PATTERNS AND PHONOLOGICAL SKILLS NEAR STUTTERING ONSET

PubMed Central

Gregg, Brent Andrew; Yairi, Ehud

2012-01-01

There is a substantial amount of literature reporting the incidence of phonological difficulties to be higher for children who stutter when compared to normally fluent children, suggesting a link between stuttering and phonology. In view of this, the purpose of the investigation was to determine whether, among children who stutter, there are relationships between phonological skills and the initial characteristics of stuttering. That is, close to the onset of stuttering, are there differences in specific stuttering patterns between children who exhibit minimal and moderate phonological deviations in terms of frequency of stuttering and length of stuttering events? Twenty-nine preschool children near the onset of stuttering, ranging in age from 29 to 49 months, with a mean of 39.17 months, were divided into two groups based on the level of phonological ability: minimal phonological deviations and moderate phonological deviations. The children’s level of stuttering-like disfluencies was examined. Results revealed no statistically significant differences in the stuttering characteristics of the two groups near onset, calling into the question the nature of the stuttering-phonology link. PMID:22939524

Effect(s) of Language Tasks on Severity of Disfluencies in Preschool Children with Stuttering.

PubMed

Zamani, Peyman; Ravanbakhsh, Majid; Weisi, Farzad; Rashedi, Vahid; Naderi, Sara; Hosseinzadeh, Ayub; Rezaei, Mohammad

2017-04-01

Speech disfluency in children can be increased or decreased depending on the type of linguistic task presented to them. In this study, the effect of sentence imitation and sentence modeling on severity of speech disfluencies in preschool children with stuttering is investigated. In this cross-sectional descriptive analytical study, 58 children with stuttering (29 with mild stuttering and 29 with moderate stuttering) and 58 typical children aged between 4 and 6 years old participated. The severity of speech disfluencies was assessed by SSI-3 and TOCS before and after offering each task. In boys with mild stuttering, The mean stuttering severity scores in two tasks of sentence imitation and sentence modeling were [Formula: see text] and [Formula: see text] respectively ([Formula: see text]). But, in boys with moderate stuttering the stuttering severity in the both tasks were [Formula: see text] and [Formula: see text] respectively ([Formula: see text]). In girls with mild stuttering, the stuttering severity in two tasks of sentence imitation and sentence modeling were [Formula: see text] and [Formula: see text] respectively ([Formula: see text]). But, in girls with moderate stuttering the mean stuttering severity in the both tasks were [Formula: see text] and [Formula: see text] respectively ([Formula: see text]). In both gender of typical children, the score of speech disfluencies had no significant difference between two tasks ([Formula: see text]). In preschool children with mild stuttering and peer non-stutters, performing the tasks of sentence imitation and sentence modeling could not increase the severity of stuttering. But, in preschool children with moderate stuttering, doing the task of sentence modeling increased the stuttering severity score.

Attitudes toward stuttering of nonstuttering preschool and kindergarten children: A comparison using a standard instrument prototype.

PubMed

Weidner, Mary E; St Louis, Kenneth O; Burgess, Megan E; LeMasters, Staci N

2015-06-01

This study investigated attitudes of nonstuttering preschool and kindergarten children toward peers who stutter in order to identify differences by age groups and better understand the genesis of stuttering attitudes. The study also examined the use of a new stuttering attitudes instrument designed for use with young children. The newly developed Public Opinion Survey on Human Attributes-Stuttering/Child was verbally administered to 27 preschool and 24 kindergarten children who do not stutter in the mid-Atlantic region of the USA. Overall, preschoolers held more negative stuttering attitudes than kindergarteners, but results were not uniformly in that direction. In both groups, the attribute of stuttering was viewed more negatively than individuals who stutter. Children viewed the potential of peers who stutter as quite positive, whereas their knowledge about and experience with stuttering were generally limited and some of their beliefs quite negative. Negative or uninformed stuttering attitudes among nonstuttering children begin as early as the preschool years. This study provides empirical evidence for the need to educate young children about the nature of stuttering and how to respond appropriately to peers who stutter. Readers should be able to: (a) describe attitudinal differences between kindergarteners and preschoolers toward peers who stutter; (b) describe the parameters of the POSHA-S/Child; (c) describe the nature of stuttering attitudes in young children relative to their beliefs and self reactions; and (d) describe the implications and future direction of stuttering attitude research in young children. Copyright © 2015 Elsevier Inc. All rights reserved.

The effects of self-disclosure and non self-disclosure of stuttering on listeners' perceptions of a person who stutters.

PubMed

Healey, E Charles; Gabel, Rodney M; Daniels, Derek E; Kawai, Nori

2007-01-01

The aim of this study was to examine listener perceptions of an adult male person who stutters (PWS) who did or did not disclose his stuttering. Ninety adults who do not stutter individually viewed one of three videotaped monologues produced by a male speaker with severe stuttering. In one monologue, 30 listeners heard the speaker disclose stuttering at the beginning and in another monologue, 30 listeners heard the speaker disclose stuttering at the end. A third group of 30 listeners viewed a monologue where no disclosure of stuttering occurred. After listeners viewed a monologue, they were asked to rate a set of six Likert scale statements and answer three open-ended questions. The results showed that only one of six Likert statements was significantly different across the three conditions. The only statement that was different was that the speaker was perceived to be significantly more friendly when disclosing stuttering at the end of the monologue than when not disclosing stuttering. There were no significant differences between the percentage of positive and negative comments made by listeners across the three conditions. Listeners' comments to each open-ended question showed they were comfortable listening to stuttering with or without disclosure and slightly more than half of the listeners believed their perceptions of the speaker did not change when he disclosed stuttering. The results also showed that the speaker who disclosed stuttering at the beginning of the monologue received significantly more positive listener comments than when he disclosed stuttering at the end of the monologue. Results are discussed relative to comparisons with the study, the clinical relevance of acknowledging stuttering as a component of treatment, and future research on the self-disclosure of stuttering. The reader will be able to: (1) describe how different groups of listeners perceive and respond to two conditions of self-disclosure of stuttering and one condition involving non self-disclosure of stuttering; (2) summarize the range of listener responses to and benefits of self-disclosure of stuttering; and (3) describe the value of self-disclosure of stuttering for the listener and the speaker.

Characteristics of stuttering-like disfluencies in Dutch-speaking children.

PubMed

Boey, Ronny A; Wuyts, Floris L; Van de Heyning, Paul H; De Bodt, Marc S; Heylen, Louis

2007-01-01

The purpose of this study was to compare the characteristics of stuttering-like disfluencies in a group of native Dutch-speaking children who stutter (n=693), with a group of normally fluent children (n=79). Methods involved the observation of stuttering-like disfluencies in participants' conversational speech samples (total 77,200 words), particularly the frequency, duration and physical tension of instances of stuttering. Findings indicate that stuttering-like disfluencies exhibited by children who stutter are significantly more frequent, longer in duration and involve more physical tension when compared to those of normally fluent children. Furthermore, applying a criterion of 3% stuttering-like disfluencies to distinguish stuttering from normally fluent children resulted in a high degree of sensitivity (0.9452) and specificity (0.9747). Results were taken to suggest that characteristics of stuttering-like disfluencies of Dutch-speaking children are similar to those of English-speaking children and that talker group membership criteria for childhood stuttering can reasonably be extrapolated from the Dutch to the English language and vice versa. The reader will be able to: (1) describe characteristics of stuttering-like disfluencies, (2) define properties such as frequency, duration and physical tension for stuttering children and normally fluent children, and (3) make use of data on sensitivity and specificity of the criterion of 3% stuttering-like disfluencies to distinguish stuttering and normally fluent children.

Implementation and validation of an improved allele specific stutter filtering method for electropherogram interpretation.

PubMed

Kalafut, Tim; Schuerman, Curt; Sutton, Joel; Faris, Tom; Armogida, Luigi; Bright, Jo-Anne; Buckleton, John; Taylor, Duncan

2018-03-31

Modern probabilistic genotyping (PG) software is capable of modeling stutter as part of the profile weighting statistic. This allows for peaks in stutter positions to be considered as allelic or stutter or both. However, prior to running any sample through a PG calculator, the examiner must first interpret the sample, considering such things as artifacts and number of contributors (NOC or N). Stutter can play a major role both during the assignment of the number of contributors, and the assessment of inclusion and exclusion. If stutter peaks are not filtered when they should be, it can lead to the assignment of an additional contributor, causing N contributors to be assigned as N + 1. If peaks in the stutter position of a major contributor are filtered using a threshold that is too high, true alleles of minor contributors can be lost. Until now, the software used to view the electropherogram stutter filters are based on a locus specific model. Combined stutter peaks occur when a peak could be the result of both back stutter (stutter one repeat shorter than the allele) and forward stutter (stutter one repeat unit larger than the allele). This can challenge existing filters. We present here a novel stutter filter model in the ArmedXpert™ software package that uses a linear model based on allele for back stutter and applies an additive filter for combined stutter. We term this the allele specific stutter model (AM). We compared AM with a traditional model based on locus specific stutter filters (termed LM). This improved stutter model has the benefit of: Instances of over filtering were reduced 78% from 101 for a traditional model (LM) to 22 for the allele specific model (AM) when scored against each other. Instances of under filtering were reduced 80% from 85 (LM) to 17 (AM) when scored against ground truth mixtures. Published by Elsevier B.V.

Stuttering and Labor Market Outcomes in the United States.

PubMed

Gerlach, Hope; Totty, Evan; Subramanian, Anu; Zebrowski, Patricia

2018-06-22

The purpose of this study was to quantify relationships between stuttering and labor market outcomes, determine if outcomes differ by gender, and explain the earnings difference between people who stutter and people who do not stutter. Survey and interview data were obtained from the National Longitudinal Study of Adolescent to Adult Health. Of the 13,564 respondents who completed 4 waves of surveys over 14 years and answered questions about stuttering, 261 people indicated that they stutter. Regression analysis, propensity score matching, and Blinder-Oaxaca decomposition were used. After controlling for numerous variables related to demographics and comorbidity, the deficit in earnings associated with stuttering exceeded $7,000. Differences in observable characteristics between people who stutter and people who do not stutter (e.g., education, occupation, self-perception, hours worked) accounted for most of the earnings gap for males but relatively little for females. Females who stutter were also 23% more likely to be underemployed than females who do not stutter. Stuttering was associated with reduced earnings and other gender-specific disadvantages in the labor market. Preliminary evidence indicates that discrimination may have contributed to the earnings gap associated with stuttering, particularly for females.

The Effect of Frequency Altered Feedback on Stuttering Duration and Type

ERIC Educational Resources Information Center

Stuart, Andrew; Frazier, Carmen L.; Kalinowski, Joseph; Vos, Paul W.

2008-01-01

Purpose: The effect of frequency altered feedback (FAF) on stuttering type (i.e., prolongation, repetition, or silent block) and stuttering duration (i.e., average duration of stuttering event and total stuttering time) was examined. Method: Retrospective analyses of previously collected data from 12 adult persons who stutter who participated in…

Perceptions of University Instructors toward Students Who Stutter: A Quantitative and Qualitative Approach

ERIC Educational Resources Information Center

Daniels, Derek E.; Panico, James; Sudholt, Jennifer

2011-01-01

Many research studies have focused on perceptions of stuttering by various groups of people. However, there is limited research on the perceptions of university instructors toward stuttering and people who stutter. Therefore, this study explored the perceptions of university instructors toward stuttering and students who stutter, and their beliefs…

Social anxiety and the severity and typography of stuttering in adolescents.

PubMed

Mulcahy, Kylie; Hennessey, Neville; Beilby, Janet; Byrnes, Michelle

2008-12-01

The present study examined the relationship between anxiety, attitude toward daily communication, and stuttering symptomatology in adolescent stuttering. Adolescents who stuttered (n=19) showed significantly higher levels of trait, state and social anxiety than fluent speaking controls (n=18). Trait and state anxiety was significantly associated with difficulty with communication in daily situations for adolescents who stutter, but not for controls. No statistically significant associations were found between anxiety and measures of communication difficulty, and the severity or typography of stuttering surface behaviours. These results highlight some of the psychosocial concomitants of chronic stuttering in adolescence, but challenge the notion that anxiety plays a direct mediating role in stuttering surface behaviours. Rather, the results suggest stuttering is a disorder that features psychosocial conflict regardless of its surface features. The reader will be able to: (1) summarise findings from previous studies with regards to stuttering and anxiety; (2) identify the sub-types of anxiety that may impact on the individual who stutters; and (3) discuss the clinical implications of the results with regards to working with adolescents who stutter.

A comparison of attitudes towards stuttering of non-stuttering preschoolers in the United States and Turkey

PubMed Central

Nakisci, Egemen; Ozdemir, Ramazan S.

2017-01-01

Background and objectives Extensive research documents ubiquitous negative attitudes towards stuttering, but when and how they develop is unclear. This non-experimental, comparative study examined US and Turkish preschoolers to explore the origin of stuttering attitudes cross-culturally. Method The authors compared stuttering attitudes of 28 US and 31 Turkish non-stuttering preschoolers on English and Turkish versions of experimental prototypes of the newly developed Public Opinion Survey on Human Attributes–Stuttering/Child (POSHA–S/Child). Children first watched a short video of two stuttering avatar characters and then answered oral questions about stuttering. Parents completed a demographic questionnaire. Differences in the US and Turkish POSHA–S/Child means were calculated using the Mann–Whitney U test. Results Attitudes of the US and Turkish children were remarkably similar. Children rated most of the items negatively but also rated some items as neutral or positive. They held relatively more negative attitudes towards traits and personalities of children who stutter yet relatively more positive attitudes towards stuttering children’s potential. Conclusion Stuttering attitudes in children appear to be partly independent of culture. PMID:28470081

A comparison of attitudes towards stuttering of non-stuttering preschoolers in the United States and Turkey.

PubMed

Weidner, Mary E; St Louis, Kenneth O; Nakisci, Egemen; Ozdemir, Ramazan S

2017-04-21

Extensive research documents ubiquitous negative attitudes towards stuttering, but when and how they develop is unclear. This non-experimental, comparative study examined US and Turkish preschoolers to explore the origin of stuttering attitudes cross-culturally. The authors compared stuttering attitudes of 28 US and 31 Turkish non-stuttering preschoolers on English and Turkish versions of experimental prototypes of the newly developed Public Opinion Survey on Human Attributes-Stuttering/Child (POSHA-S/Child). Children first watched a short video of two stuttering avatar characters and then answered oral questions about stuttering. Parents completed a demographic questionnaire. Differences in the US and Turkish POSHA-S/Child means were calculated using the Mann-Whitney U test. Attitudes of the US and Turkish children were remarkably similar. Children rated most of the items negatively but also rated some items as neutral or positive. They held relatively more negative attitudes towards traits and personalities of children who stutter yet relatively more positive attitudes towards stuttering children's potential. Stuttering attitudes in children appear to be partly independent of culture.

The role of psychological processes in estimates of stuttering severity.

PubMed

Manning, Walter; Gayle Beck, J

2013-12-01

To examine the associations of trait anxiety (STAI), social anxiety (SIAS), depression (BDI-II), and personality features (ADP-IV) with three measures of stuttering severity: %SS, Stuttering Severity, Instrument, and the Overall Assessment of the Speaker's Experience of Stuttering. Fifty adults with a history of stuttering served as participants. Participant scores on trait, anxiety, social anxiety, depression, and personality features were entered into a regression analysis, with the criterion variables (DVs) being: %SS, SSI-3, OASES total score. In order to explore the OASES, further, each of the four OASES subscales were also examined. A separate regression was conducted for, each dependent variable. The OASES total score model was significant (p<.0001) and revealed that social anxiety and, trait anxiety were the only significant predictors, with medium effect sizes noted for both variables. In contrast, percent syllables stuttered and the SSI were not significantly associated with psychological, variables, suggesting that anxiety may not always be related to overt indicators of stuttering. Depression and personality dysfunction were not significantly associated with any measure of, stuttering severity. Anxiety in the form of social and trait anxiety are significantly associated with stuttering, severity as indicated by the OASES. Traditional procedures for assigning severity ratings to individuals, who stutter based on percent syllables stuttered and the Stuttering Severity Instrument are not, significantly related to psychological processes central to the stuttering experience. Depression and, personality characteristics do not meaningfully account for stuttering. The reader will be able to: (a) differentiate forms of anxiety that are likely to be associated with stuttering (b) understand the importance of determining features of stuttering that go beyond the obvious, surface characteristics of stuttering frequency, and (c) discuss the important clinical and theoretical implications for understanding the degree of psychological dysfunction that is likely to be characteristic of those who stutter. Copyright © 2013 Elsevier Inc. All rights reserved.

Some empirical observations about early stuttering: a possible link to language development.

PubMed

Bloodstein, O

2006-01-01

This article suggests a possible link between incipient stuttering and early difficulty in language formulation. The hypothesis offers a unifying explanation of an array of empirical observations. Among these observations are the following: early stuttering occurs only on the first word of a syntactic structure; stuttering does not appear to be influenced by word-related factors; early stuttering seldom occurs on one-word utterances; the earliest age at which stuttering is reported is 18 months, with the beginning of grammatical development; the age at which most onset of stuttering is reported, 2-5 years, coincides with the period during which children acquire syntax; considerable spontaneous recovery takes place at the time most children have mastered syntax; incipient stuttering is influenced by the length and grammatical complexity of utterances; young children who stutter may be somewhat deficient in language skills; boys who stutter outnumber girls. The reader will learn about a number of empirical observations about incipient stuttering and how they may be explained by a syntax-based hypothesis about its etiology.

University Students' Perceptions of the Life Effects of Stuttering

ERIC Educational Resources Information Center

Hughes, Stephanie; Gabel, Rodney; Irani, Farzan; Schlagheck, Adam

2010-01-01

An open-ended, written survey was administered to 146 university students who did not stutter to obtain their impressions of the effects of stuttering on the lives of people who stutter (PWS). Participants first wrote about the general effects of stuttering and then considered how their lives would be different if they stuttered. Both types of…

Public attitudes toward-and identification of-cluttering and stuttering in Norway and Puerto Rico.

PubMed

St Louis, Kenneth O; Sønsterud, Hilda; Carlo, Edna J; Heitmann, Ragnhild R; Kvenseth, Helene

2014-12-01

The study sought to compare public attitudes toward cluttering versus stuttering in Norway and Puerto Rico and to compare respondents' identification of persons known with these fluency disorders. After reading lay definitions of cluttering and stuttering, three samples of adults from Norway and three from Puerto Rico rated their attitudes toward cluttering and/or stuttering on modified versions of the POSHA-Cl (for cluttering) and POSHA-S (for stuttering). They also identified children and adults whom they knew who either or both manifested cluttering or stuttering. Attitudes toward cluttering were essentially unaffected by rating either cluttering only or combined cluttering and stuttering on the same questionnaire in both countries. The same was also true of stuttering. Attitudes were very similar toward both disorders although slightly less positive for cluttering. Norwegian attitudes toward both disorders were generally more positive than Puerto Rican attitudes. The average respondent identified slightly more than one fluency disorder, a higher percentage for stuttering than cluttering and higher for adults than children. Cluttering-stuttering was rarely identified. Given a lay definition, this study confirmed that adults from diverse cultures hold attitudes toward cluttering that are similar to-but somewhat less positive than-their attitudes toward stuttering. It also confirmed that adults can identify cluttering among people they know, although less commonly than stuttering. Design controls in this study assured that consideration of stuttering did not affect either the attitudes or identification results for cluttering. The reader will be able to: (a) describe the effects-or lack thereof-of considerations of stuttering on attitudes toward cluttering; (b) describe differences in public identification of children and adults who either clutter or stutter; (c) describe differences between attitudes toward cluttering and stuttering in Norway and Puerto Rico. Copyright © 2014 Elsevier Inc. All rights reserved.

Self-efficacy and quality of life in adults who stutter.

PubMed

Carter, Alice; Breen, Lauren; Yaruss, J Scott; Beilby, Janet

2017-12-01

Self-efficacy has emerged as a potential predictor of quality of life for adults who stutter. Research has focused primarily on the positive relationship self-efficacy has to treatment outcomes, but little is known about the relationship between self-efficacy and quality of life for adults who stutter. The purpose of this mixed- methods study is to determine the predictive value of self-efficacy and its relationship to quality of life for adults who stutter. The Self-Efficacy Scale for Adult Stutterers and the Overall Assessment of the Speaker's Experience with Stuttering were administered to 39 adults who stutter, aged 18- 77. Percentage of syllables stuttered was calculated from a conversational speech sample as a measure of stuttered speech frequency. Qualitative interviews with semi-structured probes were conducted with 10 adults and analyzed using thematic analysis to explore the lived experience of adults who stutter. Self-efficacy emerged as a strong positive predictor of quality of life for adults living with a stuttered speech disorder. Stuttered speech frequency was a moderate negative predictor of self-efficacy. Major qualitative themes identified from the interviews with the participants were: encumbrance, self-concept, confidence, acceptance, life-long journey, treatment, and support. Results provide clarity on the predictive value of self-efficacy and its relationship to quality of life and stuttered speech frequency. Findings highlight that the unique life experiences of adults who stutter require a multidimensional approach to the assessment and treatment of stuttered speech disorders. Crown Copyright © 2017. Published by Elsevier Inc. All rights reserved.

An investigation into the personal financial costs associated with stuttering.

PubMed

Blumgart, Elaine; Tran, Yvonne; Craig, Ashley

2010-09-01

Stuttering has been found to deteriorate quality of life in psychological, emotional and social functioning domains. It is reasonable to assume then that stuttering would also be associated with economic consequences that may also challenge quality of life. Remarkably, the personal financial costs associated with stuttering in adults has rarely if ever been explored or investigated in the fluency disorders field. This study involved an assessment of the personal costs of stuttering and an investigation into determinants that may influence spending. Two hundred adults who stutter participated in this study. Findings indicated that the average total cost was around $5,500 (median cost $4,165) in 2007/08 Australian dollars over a 5-year period. Major financial items included costs of direct and indirect treatments for stuttering, self-help, stuttering related conferences, and technology. Financial costs were not significantly influenced by the sex of the person, annual income, or by how severe the person stuttered. However, those individuals younger than 60 years old spent significantly more on treatment related costs, while those with elevated levels of social anxiety spent significantly less than those with lower levels of social anxiety. Quality of life implications associated with stuttering are discussed. The reader will be able to: (a) describe the method for assessing the direct financial costs of stuttering over a 5-year period; (b) describe the financial personal cost of stuttering for adults who stutter; (c) describe the relationship between factors like sex, age, severity of stuttering and financial costs; and (d) describe the relationship between social anxiety and the financial cost of stuttering.

Stuttering as a trait or state - an ALE meta-analysis of neuroimaging studies.

PubMed

Belyk, Michel; Kraft, Shelly Jo; Brown, Steven

2015-01-01

Stuttering is a speech disorder characterised by repetitions, prolongations and blocks that disrupt the forward movement of speech. An earlier meta-analysis of brain imaging studies of stuttering (Brown et al., 2005) revealed a general trend towards rightward lateralization of brain activations and hyperactivity in the larynx motor cortex bilaterally. The present study sought not only to update that meta-analysis with recent work but to introduce an important distinction not present in the first study, namely the difference between 'trait' and 'state' stuttering. The analysis of trait stuttering compares people who stutter (PWS) with people who do not stutter when behaviour is controlled for, i.e., when speech is fluent in both groups. In contrast, the analysis of state stuttering examines PWS during episodes of stuttered speech compared with episodes of fluent speech. Seventeen studies were analysed using activation likelihood estimation. Trait stuttering was characterised by the well-known rightward shift in lateralization for language and speech areas. State stuttering revealed a more diverse pattern. Abnormal activation of larynx and lip motor cortex was common to the two analyses. State stuttering was associated with overactivation in the right hemisphere larynx and lip motor cortex. Trait stuttering was associated with overactivation of lip motor cortex in the right hemisphere but underactivation of larynx motor cortex in the left hemisphere. These results support a large literature highlighting laryngeal and lip involvement in the symptomatology of stuttering, and disambiguate two possible sources of activation in neuroimaging studies of persistent developmental stuttering. © 2014 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

Further Psychometric Examination of the Tourette's Disorder Scales

ERIC Educational Resources Information Center

Storch, Eric A.; Merlo, Lisa J.; Lehmkuhl, Heather; Grabill, Kristen M.; Geffken, Gary R.; Goodman, Wayne K.; Murphy, Tanya K.

2007-01-01

The Tourette's Disorder Scales (Shytle et al., 2003) are parent- (Tourette's Disorder Scales-Parent Rated; TODS-PR) and clinician-rated (Tourette's Disorder Scales-Clinician Rated; TODS-CR) measures that assess tics, obsessions, compulsions, inattention, hyperactivity, aggression, and emotional disturbances among children with tics. Although the…

Exploring risk factors for stuttering development in Parkinson disease after deep brain stimulation.

PubMed

Picillo, Marina; Vincos, Gustavo B; Sammartino, Francesco; Lozano, Andres M; Fasano, Alfonso

2017-05-01

Stuttering is a speech disorder with disruption of verbal fluency, occasionally present in Parkinson's disease (PD). PD co-incident stuttering may either worsen or improve after Deep Brain Stimulation (DBS). Sixteen out of 453 PD patients (3.5%) exhibited stuttering after DBS (PD-S) and were compared with a group of patients without stuttering (PD-NS) using non-parametric statistics. After DBS, stuttering worsened in 3 out of 4 patients with co-incidental stuttering. Most PD-S underwent subthalamic (STN) DBS, but 4 were implanted in the globus pallidus (GPi). Nine out of 16 PD-S (56.3%) reported a positive familial history for stuttering compared to none of the PD-NS. PD-S were mainly male (81.3%) with slight worse motor features compared to PD-NS. Herein, we describe a group of PD patients developing stuttering after DBS and report the presence of a positive familial history for stuttering as the most relevant risk factor, suggesting a possible underlying genetic cause. The fact that stuttering occurred after either STN or GPi DBS is an argument against the impact of medication reduction on stuttering. Copyright © 2017 Elsevier Ltd. All rights reserved.

Psychiatric genetic research at the National Institute of Mental Health

DOE Office of Scientific and Technical Information (OSTI.GOV)

Berg, K.; Mullican, C.; Maestri, N.

For some time it has been known through the results of family, twin, and adoption studies that hereditary appears to play a significant casual role in many mental disorders, including schizophrenia, bipolar disorder, and other mood disorders, Alzheimer`s Disease, panic disorder, obsessive compulsive disorder, autism, dyslexia, and Tourette`s syndrome. The precise patterns of inheritance of these complex disorders have not been determined, nor have the relevant genes been localized or cloned. Because the genetics are complex and because there is also clearly an environmental contribution to behavior, we expect the analysis of the genetics of mental illness to be arduousmore » and not quickly resolved. There are several compelling reasons to continue to focus our attention on uncovering the genetic factors for severe mental illness. Prominent among these are the implications for better treatment of mental disorders. The National Institute of Mental Health supports a wide range of studies on psychiatric genetic research. 16 refs.« less

Impact of stuttering severity on adolescents' domain-specific and general self-esteem through cognitive and emotional mediating processes.

PubMed

Adriaensens, Stefanie; Beyers, Wim; Struyf, Elke

2015-01-01

The theory that self-esteem is substantially constructed based on social interactions implies that having a stutter could have a negative impact on self-esteem. Specifically, self-esteem during adolescence, a period of life characterized by increased self-consciousness, could be at risk. In addition to studying mean differences between stuttering and non-stuttering adolescents, this article concentrates on the influence of stuttering severity on domain-specific and general self-esteem. Subsequently, we investigate if covert processes on negative communication attitudes, experienced stigma, non-disclosure of stuttering, and (mal)adaptive perfectionism mediate the relationship between stuttering severity and self-esteem. Our sample comprised 55 stuttering and 76 non-stuttering adolescents. They were asked to fill in a battery of questionnaires, consisting of: Subjective Screening of Stuttering, Self-Perception Profile for Adolescents, Erickson S-24, Multidimensional Perfectionism Scale, and the Stigmatization and Disclosure in Adolescents Who Stutter Scale. SEM (structural equation modeling) analyses showed that stuttering severity negatively influences adolescents' evaluations of social acceptance, school competence, the competence to experience a close friendship, and global self-esteem. Maladaptive perfectionism and especially negative communication attitudes fully mediate the negative influence of stuttering severity on self-esteem. Group comparison showed that the mediation model applies to both stuttering and non-stuttering adolescents. We acknowledge the impact of having a stutter on those domains of the self in which social interactions and communication matter most. We then accentuate that negative attitudes about communication situations and excessive worries about saying things in ways they perceive as wrong are important processes to consider with regard to the self-esteem of adolescents who stutter. Moreover, we provide evidence that these covert processes also need to be addressed when helping adolescents who are insecure about their fluency in general. Copyright © 2015 Elsevier Inc. All rights reserved.

"Not Unless It's a Life or Death Thing": A Qualitative Study of the Health Care Experiences of Adults Who Stutter.

PubMed

Perez, Hector R; Doig-Acuña, Camilo; Starrels, Joanna L

2015-11-01

For adults who stutter, communication difficulties can impact many spheres of life. Previous studies have not examined how stuttering might impact patient's experiences with the medical system. Our objective was to understand the range and depth of experiences with the medical system among adults who stutter. This was a qualitative study using age-stratified focus groups. Sixteen adults who stutter were recruited at a national conference about stuttering. We conducted three focus groups. Participants also completed a written questionnaire about sociodemographic characteristics, health status, and the impact of stuttering on their life [using the St. Louis Inventory of Life Perspectives Scale (SL-ILP-S) Total Effect Score]. We analyzed data using an iterative, thematic analysis, with an inductive approach, at a semantic level. Participants were mostly (75 %) male and resided throughout the United States. The mean SL-ILP-S Total Effect Score was 27.3, indicating that stuttering caused minimal concern in participants' lives. Despite this, we identified five themes that characterize ways in which stuttering affects interactions with the medical system. Participants described (1) discomfort speaking with office staff and physicians, which resulted in (2) avoiding health care interactions because of stuttering, and (3) relying on a third party to navigate the medical system. During visits with physicians, participants felt that (4) discussing stuttering with physicians required trust and rapport, and (5) speaking assertively with physicians required self-acceptance of their stuttering. We identified ways in which stuttering affects medical interactions. These results highlight the need for increased awareness and training for medical staff and physicians when caring for persons who stutter. Future studies among diverse samples of stutterers can determine the effects of stuttering on medical interactions, and inform the development of interventions to provide high quality health care for adults who stutter.

A trial of scheduled deep brain stimulation for Tourette syndrome: moving away from continuous deep brain stimulation paradigms.

PubMed

Okun, Michael S; Foote, Kelly D; Wu, Samuel S; Ward, Herbert E; Bowers, Dawn; Rodriguez, Ramon L; Malaty, Irene A; Goodman, Wayne K; Gilbert, Donald M; Walker, Harrison C; Mink, Jonathan W; Merritt, Stacy; Morishita, Takashi; Sanchez, Justin C

2013-01-01

To collect the information necessary to design the methods and outcome variables for a larger trial of scheduled deep brain stimulation (DBS) for Tourette syndrome. We performed a small National Institutes of Health-sponsored clinical trials planning study of the safety and preliminary efficacy of implanted DBS in the bilateral centromedian thalamic region. The study used a cranially contained constant-current device and a scheduled, rather than the classic continuous, DBS paradigm. Baseline vs 6-month outcomes were collected and analyzed. In addition, we compared acute scheduled vs acute continuous vs off DBS. A university movement disorders center. Five patients with implanted DBS. A 50% improvement in the Yale Global Tic Severity Scale (YGTSS) total score. RESULTS Participating subjects had a mean age of 34.4 (range, 28-39) years and a mean disease duration of 28.8 years. No significant adverse events or hardware-related issues occurred. Baseline vs 6-month data revealed that reductions in the YGTSS total score did not achieve the prestudy criterion of a 50% improvement in the YGTSS total score on scheduled stimulation settings. However, statistically significant improvements were observed in the YGTSS total score (mean [SD] change, -17.8 [9.4]; P=.01), impairment score (-11.3 [5.0]; P=.007), and motor score (-2.8 [2.2]; P=.045); the Modified Rush Tic Rating Scale Score total score (-5.8 [2.9]; P=.01); and the phonic tic severity score (-2.2 [2.6]; P=.04). Continuous, off, and scheduled stimulation conditions were assessed blindly in an acute experiment at 6 months after implantation. The scores in all 3 conditions showed a trend for improvement. Trends for improvement also occurred with continuous and scheduled conditions performing better than the off condition. Tic suppression was commonly seen at ventral (deep) contacts, and programming settings resulting in tic suppression were commonly associated with a subjective feeling of calmness. This study provides safety and proof of concept that a scheduled DBS approach could improve motor and vocal tics in Tourette syndrome. Refinements in neurostimulator battery life, outcome measure selection, and flexibility in programming settings can be used to enhance outcomes in a future larger study. Scheduled stimulation holds promise as a potential first step for shifting movement and neuropsychiatric disorders toward more responsive neuromodulation approaches. clinicaltrials.gov Identifier: NCT01329198.

Corticostriatal Divergent Function in Determining the Temporal and Spatial Properties of Motor Tics

PubMed Central

Israelashvili, Michal

2015-01-01

Striatal disinhibition leads to the formation of motor tics resembling those expressed during Tourette syndrome and other tic disorders. The spatial properties of these tics are dependent on the location of the focal disinhibition within the striatum; however, the factors affecting the temporal properties of tic expression are still unknown. Here, we used microstimulation within the motor cortex of freely behaving rats before and after striatal disinhibition to explore the factors underlying the timing of individual tics. Cortical activation determined the timing of individual tics via an accumulation process of inputs that was dependent on the frequency and amplitude of the inputs. The resulting tics and their neuronal representation within the striatum were highly stereotypic and independent of the cortical activity properties. The generation of tics was limited by absolute and relative tic refractory periods that were derived from an internal striatal state. Thus, the precise time of the tic expression depends on the interaction between the summation of incoming excitatory inputs to the striatum and the timing of the previous tic. A data-driven computational model of corticostriatal function closely replicated the temporal properties of tic generation and enabled the prediction of tic timing based on incoming cortical activity and tic history. These converging experimental and computational findings suggest a clear functional dichotomy within the corticostriatal network, pointing to disparate temporal (cortical) versus spatial (striatal) encoding. Thus, the abnormal striatal inhibition typical of Tourette syndrome and other tic disorders results in tics due to cortical activation of the abnormal striatal network. SIGNIFICANCE STATEMENT The factors underlying the temporal properties of tics expressed in Tourette syndrome and other tic disorders have eluded clinicians and scientists for decades. In this study, we highlight the key role of corticostriatal activity in determining the timing of individual tics. We found that cortical activation determined the timing of tics but did not determine their form. A data-driven computational model of the corticostriatal network closely replicated the temporal properties of tic generation and enabled the prediction of tic timing based on incoming cortical activity and tic history. This study thus shows that, although tics originate in the striatum, their timing depends on the interplay between incoming excitatory corticostriatal inputs and the internal striatal state. PMID:26674861

Corticostriatal Divergent Function in Determining the Temporal and Spatial Properties of Motor Tics.

PubMed

Israelashvili, Michal; Bar-Gad, Izhar

2015-12-16

Striatal disinhibition leads to the formation of motor tics resembling those expressed during Tourette syndrome and other tic disorders. The spatial properties of these tics are dependent on the location of the focal disinhibition within the striatum; however, the factors affecting the temporal properties of tic expression are still unknown. Here, we used microstimulation within the motor cortex of freely behaving rats before and after striatal disinhibition to explore the factors underlying the timing of individual tics. Cortical activation determined the timing of individual tics via an accumulation process of inputs that was dependent on the frequency and amplitude of the inputs. The resulting tics and their neuronal representation within the striatum were highly stereotypic and independent of the cortical activity properties. The generation of tics was limited by absolute and relative tic refractory periods that were derived from an internal striatal state. Thus, the precise time of the tic expression depends on the interaction between the summation of incoming excitatory inputs to the striatum and the timing of the previous tic. A data-driven computational model of corticostriatal function closely replicated the temporal properties of tic generation and enabled the prediction of tic timing based on incoming cortical activity and tic history. These converging experimental and computational findings suggest a clear functional dichotomy within the corticostriatal network, pointing to disparate temporal (cortical) versus spatial (striatal) encoding. Thus, the abnormal striatal inhibition typical of Tourette syndrome and other tic disorders results in tics due to cortical activation of the abnormal striatal network. The factors underlying the temporal properties of tics expressed in Tourette syndrome and other tic disorders have eluded clinicians and scientists for decades. In this study, we highlight the key role of corticostriatal activity in determining the timing of individual tics. We found that cortical activation determined the timing of tics but did not determine their form. A data-driven computational model of the corticostriatal network closely replicated the temporal properties of tic generation and enabled the prediction of tic timing based on incoming cortical activity and tic history. This study thus shows that, although tics originate in the striatum, their timing depends on the interplay between incoming excitatory corticostriatal inputs and the internal striatal state. Copyright © 2015 the authors 0270-6474/15/3516340-12$15.00/0.

Treatment of tics and tourette syndrome.

PubMed

Singer, Harvey S

2010-11-01

Tics come in a variety of types and frequencies; have a waxing and waning course; are exacerbated by stress, anxiety, and fatigue; and often resolve or improve in the teenage or early adult years. Tourette syndrome requires the presence of chronic, fluctuating motor and phonic tics. In addition to tics, individuals with Tourette syndrome often have a variety of comorbid conditions such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder, depression and anxiety, episodic outbursts, and academic difficulties. These conditions often are a greater source of difficulty than the tics themselves. All patients with tics should be evaluated to assure proper diagnosis and to identify any associated psychopathology or academic difficulty. The treatment of tics begins with education of the patient and family, including discussions about the fundamentals of tics: their characteristics, etiology, outcomes, and available treatments. Therapy should be individualized based on the extent of impairment, available support, ability to cope, and the presence of other problems. Indications for the treatment of tics include psychosocial problems (loss of self-esteem, comments from peers, excessive worries about tics, diminished participation in activities), functional difficulties, classroom disruption, and physical discomfort. A variety of behavioral approaches can be used. Recent studies have emphasized the value of comprehensive behavioral intervention for tics (CBIT). Because habit reversal is the major component of CBIT, a cooperative patient, the presence of a premonitory urge, and a committed family are essential ingredients for success. If tic-suppressing medication is required, a two-tier approach and monotherapy are recommended. First-tier medications, notably the α-adrenergic agonists, are recommended for individuals with milder tics, especially persons with both tics and ADHD. Second-tier medications include various typical and atypical neuroleptics. Their sequence of prescription is often based on physician experience; I favor pimozide and fluphenazine. Atypical antipsychotics, such as risperidone and aripiprazole, have some advantages based on their side-effect profile and are particularly beneficial in individuals with significant co-existing behavioral issues. As will become readily apparent, however, few medications have been adequately assessed. Deep brain stimulation is an emerging therapy, but further data are required to optimize the location of electrode placement and stimulation and to determine precise indications for its implementation. Stimulant medication is effective in treating ADHD in children with tics; studies reducing concerns about its use are discussed.

Preliminary study of self-reported experience of physical aggression and bullying of boys who stutter: relation to increased anxiety.

PubMed

Blood, Gordon W; Blood, Ingrid M

2007-06-01

This study examined the relationship of self-reported anxiety and vulnerability to bullying for 18 children who stuttered and 18 children who did not stutter. More children who stuttered were at significantly higher risk of experiencing bullying behavior (61%) than children who did not stutter (22%); 39% of children who stuttered scored at least one standard deviation above the mean on the Revised Children's Manifest Anxiety Scale, suggestive of higher anxiety. In contrast, only 6% of children who did not stutter scored at least one standard deviation above the mean. The correlation was .82 for children who stuttered between greater vulnerability to bullying and self-reported anxiety. A bidirectional relationship is hypothesized between high anxiety and bullying of children who stutter.

Brain anatomy differences in childhood stuttering.

PubMed

Chang, Soo-Eun; Erickson, Kirk I; Ambrose, Nicoline G; Hasegawa-Johnson, Mark A; Ludlow, Christy L

2008-02-01

Stuttering is a developmental speech disorder that occurs in 5% of children with spontaneous remission in approximately 70% of cases. Previous imaging studies in adults with persistent stuttering found left white matter deficiencies and reversed right-left asymmetries compared to fluent controls. We hypothesized that similar differences might be present indicating brain development differences in children at risk of stuttering. Optimized voxel-based morphometry compared gray matter volume (GMV) and diffusion tensor imaging measured fractional anisotropy (FA) in white matter tracts in 3 groups: children with persistent stuttering, children recovered from stuttering, and fluent peers. Both the persistent stuttering and recovered groups had reduced GMV from normal in speech-relevant regions: the left inferior frontal gyrus and bilateral temporal regions. Reduced FA was found in the left white matter tracts underlying the motor regions for face and larynx in the persistent stuttering group. Contrary to previous findings in adults who stutter, no increases were found in the right hemisphere speech regions in stuttering or recovered children and no differences in right-left asymmetries. Instead, a risk for childhood stuttering was associated with deficiencies in left gray matter volume while reduced white matter integrity in the left hemisphere speech system was associated with persistent stuttering. Anatomical increases in right hemisphere structures previously found in adults who stutter may have resulted from a lifetime of stuttering. These findings point to the importance of considering the role of neuroplasticity during development when studying persistent forms of developmental disorders in adults.

Brain Anatomy Differences in Childhood Stuttering

PubMed Central

Chang, Soo-Eun; Erickson, Kirk I.; Ambrose, Nicoline G.; Hasegawa-Johnson, Mark A.; Ludlow, Christy L.

2009-01-01

Stuttering is a developmental speech disorder that occurs in 5% of children with spontaneous remission in approximately 70% of cases. Previous imaging studies in adults with persistent stuttering found left white matter deficiencies and reversed right-left asymmetries compared to fluent controls. We hypothesized that similar differences might be present indicating brain development differences in children at risk of stuttering. Optimized voxel-based morphometry compared gray matter volume (GMV) and diffusion tensor imaging measured fractional anisotropy (FA) in white matter tracts in 3 groups: children with persistent stuttering, children recovered from stuttering, and fluent peers. Both the persistent stuttering and recovered groups had reduced GMV from normal in speech-relevant regions: the left inferior frontal gyrus, and bilateral temporal regions. Reduced FA was found in the left white matter tracts underlying the motor regions for face and larynx in the persistent stuttering group. Contrary to previous findings in adults who stutter, no increases were found in the right hemisphere speech regions in stuttering or recovered children and no differences in right-left asymmetries. Instead, a risk for childhood stuttering was associated with deficiencies in left gray matter volume while reduced white matter integrity in the left hemisphere speech system was associated with persistent stuttering. Anatomical increases in right hemisphere structures previously found in adults who stutter may have resulted from a life-time of stuttering. These findings point to the importance of considering the role of neuroplasticity during development when studying persistent forms of developmental disorders in adults. PMID:18023366

CNV amplitude as a neural correlate for stuttering frequency: A case report of acquired stuttering.

PubMed

Vanhoutte, Sarah; Van Borsel, John; Cosyns, Marjan; Batens, Katja; van Mierlo, Pieter; Hemelsoet, Dimitri; Van Roost, Dirk; Corthals, Paul; De Letter, Miet; Santens, Patrick

2014-11-01

A neural hallmark of developmental stuttering is abnormal articulatory programming. One of the neurophysiological substrates of articulatory preparation is the contingent negative variation (CNV). Unfortunately, CNV tasks are rarely performed in persons who stutter and mainly focus on the effect of task variation rather than on interindividual variation in stutter related variables. However, variations in motor programming seem to be related to variation in stuttering frequency. The current study presents a case report of acquired stuttering following stroke and stroke related surgery in the left superior temporal gyrus. A speech related CNV task was administered at four points in time with differences in stuttering severity and frequency. Unexpectedly, CNV amplitudes at electrode sites approximating bilateral motor and left inferior frontal gyrus appeared to be inversely proportional to stuttering frequency. The higher the stuttering frequency, the lower the activity for articulatory preparation. Thus, the amount of disturbance in motor programming seems to determine stuttering frequency. At right frontal electrodes, a relative increase in CNV amplitude was seen at the test session with most severe stuttering. Right frontal overactivation is cautiously suggested to be a compensation strategy. In conclusion, late CNV amplitude elicited by a relatively simple speech task seems to be able to provide an objective, neural correlate of stuttering frequency. The present case report supports the hypothesis that motor preparation has an important role in stuttering. Copyright © 2014 Elsevier Ltd. All rights reserved.

Emotional and physiological responses of fluent listeners while watching the speech of adults who stutter.

PubMed

Guntupalli, Vijaya K; Everhart, D Erik; Kalinowski, Joseph; Nanjundeswaran, Chayadevie; Saltuklaroglu, Tim

2007-01-01

People who stutter produce speech that is characterized by intermittent, involuntary part-word repetitions and prolongations. In addition to these signature acoustic manifestations, those who stutter often display repetitive and fixated behaviours outside the speech producing mechanism (e.g. in the head, arm, fingers, nares, etc.). Previous research has examined the attitudes and perceptions of those who stutter and people who frequently interact with them (e.g. relatives, parents, employers). Results have shown an unequivocal, powerful and robust negative stereotype despite a lack of defined differences in personality structure between people who stutter and normally fluent individuals. However, physiological investigations of listener responses during moments of stuttering are limited. There is a need for data that simultaneously examine physiological responses (e.g. heart rate and galvanic skin conductance) and subjective behavioural responses to stuttering. The pairing of these objective and subjective data may provide information that casts light on the genesis of negative stereotypes associated with stuttering, the development of compensatory mechanisms in those who stutter, and the true impact of stuttering on senders and receivers alike. To compare the emotional and physiological responses of fluent speakers while listening and observing fluent and severe stuttered speech samples. Twenty adult participants (mean age = 24.15 years, standard deviation = 3.40) observed speech samples of two fluent speakers and two speakers who stutter reading aloud. Participants' skin conductance and heart rate changes were measured as physiological responses to stuttered or fluent speech samples. Participants' subjective responses on arousal (excited-calm) and valence (happy-unhappy) dimensions were assessed via the Self-Assessment Manikin (SAM) rating scale with an additional questionnaire comprised of a set of nine bipolar adjectives. Results showed significantly increased skin conductance and lower mean heart rate during the presentation of stuttered speech relative to the presentation of fluent speech samples (p<0.05). Listeners also self-rated themselves as being more aroused, unhappy, nervous, uncomfortable, sad, tensed, unpleasant, avoiding, embarrassed, and annoyed while viewing stuttered speech relative to the fluent speech. These data support the notion that stutter-filled speech can elicit physiological and emotional responses in listeners. Clinicians who treat stuttering should be aware that listeners show involuntary physiological responses to moderate-severe stuttering that probably remain salient over time and contribute to the evolution of negative stereotypes of people who stutter. With this in mind, it is hoped that clinicians can work with people who stutter to develop appropriate coping strategies. The role of amygdala and mirror neural mechanism in physiological and subjective responses to stuttering is discussed.

Effect of extended exposure to frequency-altered feedback on stuttering during reading and monologue.

PubMed

Armson, J; Stuart, A

1998-06-01

An ABA time series design was used to examine the effect of extended, continuous exposure to frequency-altered auditory feedback (FAF) during an oral reading and monologue task on stuttering frequency and speech rate. Twelve adults who stutter participated. A statistically significant decrease in number of stuttering events, an increase in number of syllables produced, and a decrease in percent stuttering was observed during the experimental segment relative to baseline segments for the oral reading task. In the monologue task, there were no statistically significant differences for the number of stuttering events, number of syllables produced, or percent stuttering between the experimental and baseline segments. Varying individual patterns of response to FAF were evident during the experimental segment of the reading task: a large consistent reduction in stuttering, an initial reduction followed by fluctuations in amount of stuttering, and essentially no change in stuttering frequency. Ten of 12 participants showed no reduction in stuttering frequency during the experimental segment of the monologue task. These findings have ramifications both for the clinical utilization of FAF and for theoretical explanations of fluency-enhancement.

Language skills of children during the first 12 months after stuttering onset.

PubMed

Watts, Amy; Eadie, Patricia; Block, Susan; Mensah, Fiona; Reilly, Sheena

2017-03-01

To describe the language development in a sample of young children who stutter during the first 12 months after stuttering onset was reported. Language production was analysed in a sample of 66 children who stuttered (aged 2-4 years). The sample were identified from a pre-existing prospective, community based longitudinal cohort. Data were collected at three time points within the first year after stuttering onset. Stuttering severity was measured, and global indicators of expressive language proficiency (length of utterances and grammatical complexity) were derived from the samples and summarised. Language production abilities of the children who stutter were contrasted with normative data. The majority of children's stuttering was rated as mild in severity, with more than 83% of participants demonstrating very mild or mild stuttering at each of the time points studied. The participants demonstrated developmentally appropriate spoken language skills comparable with available normative data. In the first year following the report of stuttering onset, the language skills of the children who were stuttering progressed in a manner that is consistent with developmental expectations. Copyright © 2016 Elsevier Inc. All rights reserved.

Cognitive processing load as a determinant of stuttering: summary of a research programme.

PubMed

Bosshardt, Hans-Georg

2006-07-01

The present paper integrates the results of experimental studies in which cognitive differences between stuttering and nonstuttering adults were investigated. In a monitoring experiment it was found that persons who stutter encode semantic information more slowly than nonstuttering persons. In dual-task experiments the two groups were compared in overt word-repetition and sentence-production experiments. The results of the two word-repetition experiments indicate that the speech of stuttering persons is sensitive to interference from concurrent attention-demanding cognitive processing-particularly when phonological coding is involved. In two sentence-generation and -production experiments it was found that under dual-task conditions stuttering persons produced sentences containing a smaller number of content units whereas persons who do not stutter did not show a significant single- vs. dual-task contrast. These results suggest that sentence generation and production required greater sustained attentional processing in stuttering than in nonstuttering persons and that persons who stutter reduce the amount of "conceptual work" in order to keep their stuttering rates low. Data from an fMRI-study indicate that in persons who stutter the neural systems activated during sentence generation and production overlap to a greater extent than those of persons who do not stutter. It is suggested that in persons who stutter neural subsystems involved in speech planning are "modularized" to a lesser extent than in persons who do not stutter.

Toward a Theory of Stuttering.

PubMed

Mawson, Anthony R; Radford, Nola T; Jacob, Binu

2016-01-01

Stuttering affects about 1% of the general population and from 8 to 11% of children. The onset of persistent developmental stuttering (PDS) typically occurs between 2 and 4 years of age. The etiology of stuttering is unknown and a unifying hypothesis is lacking. Clues to the pathogenesis of stuttering include the following observations: PDS is associated with adverse perinatal outcomes and birth-associated trauma; stuttering can recur or develop in adulthood following traumatic events such as brain injury and stroke; PDS is associated with structural and functional abnormalities in the brain associated with speech and language; and stuttering resolves spontaneously in a high percentage of affected children. Evidence marshaled from the literature on stuttering and from related sources suggests the hypothesis that stuttering is a neuro-motor disorder resulting from perinatal or later-onset hypoxic-ischemic injury (HII), and that chronic stuttering and its behavioral correlates are manifestations of recurrent transient ischemic episodes affecting speech-motor pathways. The hypothesis could be tested by comparing children who stutter and nonstutterers (controls) in terms of the occurrence of perinatal trauma, based on birth records, and by determining rates of stuttering in children exposed to HII during the perinatal period. Subject to testing, the hypothesis suggests that interventions to increase brain perfusion directly could be effective both in the treatment of stuttering and its prevention at the time of birth or later trauma. © 2016 S. Karger AG, Basel.

Elementary school students' perceptions of stuttering: A mixed model approach.

PubMed

Panico, James; Healey, E Charles; Knopik, Jennifer

2015-09-01

Past research studies have focused on perceptions of stuttering by various age groups and only a few have examined how children react to a peer who stutters. All of these studies used a quantitative analysis but only one included a qualitative analysis of elementary school age children's responses to stuttering. The aim of this study was to further explore the perceptions of elementary school students toward a peer who stutters using both quantitative and qualitative analyses of three levels of stuttering. Participants included 88 elementary school children between 8 and 12 years of age. Each participant viewed one of four audiovisual samples of a peer producing fluent speech and mild, moderate, and severe simulated stuttering. Each participant then rated five Likert statements and answered three open-ended questions. Quantitative and qualitative results indicated that negative ratings and the percentage of negative comments increased as the frequency of stuttering increased. However, the children in this study indicated that they were comfortable listening to stuttering and would be comfortable making friends with the peer who stutters. The findings of this study together with past research in this area should help clinicians and their clients appreciate the range of social and emotional reactions peers have of a child who stutters. After reading this article, the reader will be able to: (a) discuss past research regarding children's perceptions of stuttering; (b) summarize the need to explore the perceptions of elementary-aged children toward a peer who stutters; (c) describe the major quantitative and qualitative findings of children's perceptions of stuttering; and (d) discuss the need for disseminating more information about stuttering to children and teachers. Copyright © 2015 Elsevier Inc. All rights reserved.

Self-acceptance of stuttering: A preliminary study.

PubMed

De Nardo, Thales; Gabel, Rodney M; Tetnowski, John A; Swartz, Eric R

2016-01-01

This study explored the relationship between self-acceptance of stuttering and (1) psychosocial factors (self-esteem, hostility towards others, emotional support, and perceived discrimination); (2) treatment history (support group participation, therapy duration, and perceived therapy success); and (3) previously reported variables in self-acceptance of stuttering, which include age and stuttering severity. Participants were 80 adults who stutter who were recruited with assistance from the National Stuttering Association and Board Certified Specialists in Fluency Disorders. Participants completed an electronic survey composed of an acceptance of stuttering scale, psychosocial scales, and a participant information questionnaire. Statistical analysis identified significant correlations between participants' reports of self-acceptance of stuttering and self-esteem, perceived discrimination, hostility towards others, and perceived therapy outcome. Self-esteem was positively correlated with self-acceptance, while hostility towards others and perceived discrimination was negatively correlated with self-acceptance. Participants who perceived their therapy outcome to be successful were significantly more likely to report higher levels of self-acceptance. No significant relationships were found between self-acceptance of stuttering and support group participation, emotional support, stuttering severity, and participant age. This exploratory investigation has provided a foundation for future studies on the self-acceptance of stuttering. The findings indicate common psychosocial variables in self-acceptance of stuttering and of other disabilities. The significant relationships between self-acceptance of stuttering and psychosocial and therapeutic variables found need to be further explored to identify its causalities and clinical implications. The reader will be able to (1) discuss the importance of assessing self-acceptance of stuttering, (2) summarize the literature on self-acceptance of disability, and (3) describe the significant findings related to self-acceptance of stuttering and psychosocial, therapeutic variables. Copyright © 2016 Elsevier Inc. All rights reserved.

Targeted ablation of cholinergic interneurons in the dorsolateral striatum produces behavioral manifestations of Tourette syndrome

PubMed Central

Xu, Meiyu; Kobets, Andrew; Du, Jung-Chieh; Lennington, Jessica; Li, Lina; Banasr, Mounira; Duman, Ronald S.; Vaccarino, Flora M.; DiLeone, Ralph J.; Pittenger, Christopher

2015-01-01

Gilles de la Tourette syndrome (TS) is characterized by tics, which are transiently worsened by stress, acute administration of dopaminergic drugs, and by subtle deficits in motor coordination and sensorimotor gating. It represents the most severe end of a spectrum of tic disorders that, in aggregate, affect ∼5% of the population. Available treatments are frequently inadequate, and the pathophysiology is poorly understood. Postmortem studies have revealed a reduction in specific striatal interneurons, including the large cholinergic interneurons, in severe disease. We tested the hypothesis that this deficit is sufficient to produce aspects of the phenomenology of TS, using a strategy for targeted, specific cell ablation in mice. We achieved ∼50% ablation of the cholinergic interneurons of the striatum, recapitulating the deficit observed in patients postmortem, without any effect on GABAergic markers or on parvalbumin-expressing fast-spiking interneurons. Interneuron ablation in the dorsolateral striatum (DLS), corresponding roughly to the human putamen, led to tic-like stereotypies after either acute stress or d-amphetamine challenge; ablation in the dorsomedial striatum, in contrast, did not. DLS interneuron ablation also led to a deficit in coordination on the rotorod, but not to any abnormalities in prepulse inhibition, a measure of sensorimotor gating. These results support the causal sufficiency of cholinergic interneuron deficits in the DLS to produce some, but not all, of the characteristic symptoms of TS. PMID:25561540

A diagnosis model for early Tourette syndrome children based on brain structural network characteristics

NASA Astrophysics Data System (ADS)

Wen, Hongwei; Liu, Yue; Wang, Jieqiong; Zhang, Jishui; Peng, Yun; He, Huiguang

2016-03-01

Tourette syndrome (TS) is a childhood-onset neurobehavioral disorder characterized by the presence of multiple motor and vocal tics. Tic generation has been linked to disturbed networks of brain areas involved in planning, controlling and execution of action. The aim of our work is to select topological characteristics of structural network which were most efficient for estimating the classification models to identify early TS children. Here we employed the diffusion tensor imaging (DTI) and deterministic tractography to construct the structural networks of 44 TS children and 48 age and gender matched healthy children. We calculated four different connection matrices (fiber number, mean FA, averaged fiber length weighted and binary matrices) and then applied graph theoretical methods to extract the regional nodal characteristics of structural network. For each weighted or binary network, nodal degree, nodal efficiency and nodal betweenness were selected as features. Support Vector Machine Recursive Feature Extraction (SVM-RFE) algorithm was used to estimate the best feature subset for classification. The accuracy of 88.26% evaluated by a nested cross validation was achieved on combing best feature subset of each network characteristic. The identified discriminative brain nodes mostly located in the basal ganglia and frontal cortico-cortical networks involved in TS children which was associated with tic severity. Our study holds promise for early identification and predicting prognosis of TS children.

The relationship between tics, OC, ADHD and autism symptoms: A cross- disorder symptom analysis in Gilles de la Tourette syndrome patients and family-members.

PubMed

Huisman-van Dijk, Hilde M; Schoot, Rens van de; Rijkeboer, Marleen M; Mathews, Carol A; Cath, Daniëlle C

2016-03-30

Gilles de la Tourette's syndrome (GTS) is a disorder in which obsessive-compulsive (OC), Attention Deficit Hyperactivity Disorder (ADHD) and autism symptoms occur in up to 60% of patients, suggesting shared etiology. We explored the phenotypic structure of tic, OC, ADHD, and autism symptoms as measured by the YGTSS,Y-BOCS,CAARS and AQ, in 225 GTS patients and 371 family members. First, Confirmatory Factor Analyses (CFA) were performed on the symptom structure of each separate symptom scale. Second, the symptom dimensions derived from each scale were combined in one model, and correlations between them were calculated. Using the correlation matrix, Exploratory Factor Analyses (EFA) were performed on the symptom dimensions across the scales. EFA revealed a five factor structure: tic/aggression/symmetry; OC symptoms/compulsive tics/ numbers and patterns; ADHD symptoms; autism symptoms; and hoarding/inattention symptoms. The results are partly in line with the traditional categorical boundaries of the symptom scales used, and partly reveal a symptom structure that cuts through the diagnostic categories. This phenotypic structure might more closely reflect underlying etiologies than a structure that classically describes GTS patients according to absence or presence of comorbid OCD, ADHD and autism, and might inform both future genetic and treatment studies. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Tourette syndrome and excitatory substances: is there a connection?

PubMed

Zou, Li-Ping; Wang, Ying; Zhang, Li-Ping; Zhao, Jian-Bo; Lu, Jin-Fang; Liu, Qun; Wang, Hang-Yan

2011-05-01

The objective of this study is to investigate the relationship between excitatory substances by testing the urine in children with Tourette syndrome (TS). We performed a control study involving 44 patients with TS and 44 normal children by investigating the children's daily eating habits. We used the gas chromatograph-mass spectrometer and liquid chromatograph-mass spectrometer from Agilent. Substances for detection included 197 excitatory substances prohibited by the International Olympic Committee and other substances with similar chemical structures or biological functions for urine samples. Forty-four patients who did not take any drugs in the past 2 weeks enrolled in the study. The positive rate in the experiment group was three cases, while it was negative in the control group. The level of 1-testosterone increased in one extremely severe TS patient who ate large amounts of puffed food and drank an average of 350 ml of cola per day. Cathine and other substances with similar chemical constitution or similar biological effects increased in one severe TS patient who ate bags of instant noodles daily, according to the high score of the Yale Global Tic Severity Scale. An increase in ephedrine type, testosterone, and stimulants may be related to the pathogenesis of TS. Unhealthy food possibly causes TS. The relationship between excitatory substances and TS needs to be explored with the goal of providing more information on diagnosing and treating TS.

Antibody binding to neuronal surface in Sydenham chorea, but not in PANDAS or Tourette syndrome

PubMed Central

Merheb, V.; Ding, A.; Murphy, T.; Dale, R.C.

2011-01-01

Objective: To test the hypothesis that Sydenham chorea (SC) immunoglobulin G (IgG) autoantibodies bind to specific neuronal surface proteins, whereas IgG from patients with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) or Tourette syndrome (TS) do not bind to neuronal surface proteins. Methods: We used live differentiated SH-SY5Y cells, which have neuronal and dopaminergic characteristics. Using flow cytometry, we measured serum IgG cell surface binding in patients with SC (n = 11), PANDAS (n = 12), and TS (n = 11), and compared the findings to healthy controls (n = 11) and other neurologic controls (n = 11). In order to determine the specificity of binding to neuronal antigens, we also used a non-neuronal cell line, HEK 293. Results: The mean IgG cell surface binding was significantly higher in the SC group compared to all other groups (p < 0.001). By contrast, there was no difference between the PANDAS or TS groups and the controls. Using the non-neuronal HEK-293 cells, there was no significant difference in IgG cell surface binding between any groups. Conclusions: Serum autoantibodies that bind to neuronal cell surface antigens are present in SC, but not in PANDAS or TS. These findings strengthen the hypothesis that SC is due to a pathogenic autoantibody, but weaken the autoantibody hypothesis in PANDAS and TS. PMID:21411742

Antibody binding to neuronal surface in Sydenham chorea, but not in PANDAS or Tourette syndrome.

PubMed

Brilot, F; Merheb, V; Ding, A; Murphy, T; Dale, R C

2011-04-26

To test the hypothesis that Sydenham chorea (SC) immunoglobulin G (IgG) autoantibodies bind to specific neuronal surface proteins, whereas IgG from patients with pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) or Tourette syndrome (TS) do not bind to neuronal surface proteins. We used live differentiated SH-SY5Y cells, which have neuronal and dopaminergic characteristics. Using flow cytometry, we measured serum IgG cell surface binding in patients with SC (n = 11), PANDAS (n = 12), and TS (n = 11), and compared the findings to healthy controls (n = 11) and other neurologic controls (n = 11). In order to determine the specificity of binding to neuronal antigens, we also used a non-neuronal cell line, HEK 293. The mean IgG cell surface binding was significantly higher in the SC group compared to all other groups (p < 0.001). By contrast, there was no difference between the PANDAS or TS groups and the controls. Using the non-neuronal HEK-293 cells, there was no significant difference in IgG cell surface binding between any groups. Serum autoantibodies that bind to neuronal cell surface antigens are present in SC, but not in PANDAS or TS. These findings strengthen the hypothesis that SC is due to a pathogenic autoantibody, but weaken the autoantibody hypothesis in PANDAS and TS.

Impact of co-morbid attention-deficit and hyperactivity disorder on cognitive function in male children with Tourette syndrome: A controlled study.

PubMed

Termine, Cristiano; Luoni, Chiara; Fontolan, Stefania; Selvini, Claudia; Perego, Livia; Pavone, Francesca; Rossi, Giorgio; Balottin, Umberto; Cavanna, Andrea E

2016-09-30

Tourette syndrome (TS) and attention-deficit and hyperactivity disorder (ADHD) are co-morbid neurodevelopmental conditions affecting more commonly male patients. We set out to determine the impact of co-morbid ADHD on cognitive function in male children with TS by conducting a controlled study. Participants included four matched groups of unmedicated children (age range 6-15 years): TS (n=13), TS+ADHD (n=8), ADHD (n=39), healthy controls (n=66). Following clinical assessment, each participant completed a battery of tests from the Wechsler Intelligence Scale for Children-III, the Italian Battery for ADHD, the Tower of London test, the Corsi test, and the Digit Span test. All patient groups reported significantly lower scores than healthy controls across the neuropsychological tests involving executive functions. The TS+ADHD group was the most severely affected, followed by the ADHD group and the TS group, particularly in the tests assessing planning ability, inhibitory function, working memory and visual attention, but not auditory attention. Problems in executive functions are more common in patients with neurodevelopmental disorders than controls. Deficits in planning ability, inhibitory function, working memory and visual attention reported by children with TS appear to be more strongly related to the presence of co-morbid ADHD symptoms than core TS symptoms. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Normalization of Intrinsic Neural Circuits Governing Tourette's Syndrome Using Cranial Electrotherapy Stimulation.

PubMed

Qiao, Jianping; Weng, Shenhong; Wang, Pengwei; Long, Jun; Wang, Zhishun

2015-05-01

The aim of this study was to investigate the normalization of the intrinsic functional activity and connectivity of TS adolescents before and after the cranial electrotherapy stimulation (CES) with alpha stim device. We performed resting-state functional magnetic resonance imaging on eight adolescents before and after CES with mean age of about nine-years old who had Tourette's syndrome with moderate to severe tics symptom. Independent component analysis (ICA) with hierarchical partner matching method was used to examine the functional connectivity between regions within cortico-striato-thalamo-cortical (CSTC) circuit. Granger causality was used to investigate effective connectivity among these regions detected by ICA. We then performed pattern classification on independent components with significant group differences that served as endophenotype markers to distinguish the adolescents between TS and the normalized ones after CES. Results showed that TS adolescents after CES treatment had stronger functional activity and connectivity in anterior cingulate cortex (ACC), caudate and posterior cingulate cortex while had weaker activity in supplementary motor area within the motor pathway compared with TS before CES. The results suggest that the functional activity and connectivity in motor pathway was suppressed while activities in the control portions within CSTC loop including ACC and caudate were increased in TS adolescents after CES compared with adolescents before CES. The normalization of the balance between motor and control portions of the CSTC circuit may result in the recovery of TS adolescents.

Locus of control, perceived parenting style, and symptoms of anxiety and depression in children with Tourette's syndrome.

PubMed

Cohen, Esther; Sade, Michal; Benarroch, Fortu; Pollak, Yehuda; Gross-Tsur, Varda

2008-08-01

This study explored the contribution of two psychosocial factors, locus of control (LOC) and perceived parenting style, to symptoms of internalizing disorders in children with Tourette syndrome (TS). This contribution was further evaluated in relation to TS severity. Sixty-five children (53 boys, 12 girls) ages 9.0-16.9 years, of normal intelligence, completed questionnaires evaluating their depression and anxiety symptoms, LOC, and maternal parenting style. Their mothers rated TS severity, determined by tic severity, symptoms of attention-deficit hyperactivity disorder (ADHD) and obsessive compulsive symptoms (OCS). Higher rates of symptoms of anxiety and depression were associated with a more external LOC and a more rejecting and controlling parenting style. Additionally, depression correlated significantly with tic severity, ADHD and OCS, whereas anxiety correlated only with ADHD symptoms and OCS, but not with tics. Regression analyses showed that LOC, OCS and ADHD symptoms each significantly contributed to predicting anxiety level, whereas LOC and ADHD symptoms significantly contributed to predicting depression symptoms. Rates of symptoms of anxiety and depression in children with TS are markedly influenced by psychosocial factors, extending beyond the influence of ADHD and OCD, both common comorbid disorders in TS. An internal LOC, which is associated with an accepting and autonomy-granting parenting style, appears to be a protective factor against anxiety and depression.

Mood disorders and Gilles de la Tourette's syndrome: An update on prevalence, etiology, comorbidity, clinical associations, and implications.

PubMed

Robertson, Mary May

2006-09-01

Gilles de la Tourette's syndrome (GTS) consists of multiple motor tics and one or more phonic tics. Psychopathology occurs in approximately 90% of GTS patients, with attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) being common. Depression is common, with a lifetime risk of 10% and a prevalence of between 1.8% and 8.9%. Depression and depressive symptoms are found to occur in 13% and 76% of GTS patients attending specialist clinics, respectively. In controlled studies embracing over 700 GTS patients, the patients were significantly more depressed than controls in all but one instance. In community and epidemiological studies, depression in GTS individuals was evident in two of five investigations. Clinical correlates of depression in people with GTS appear to be: tic severity and duration, the presence of echophenomena and coprophenomena, premonitory sensations, sleep disturbances, obsessive-compulsive behaviors/OCD, self-injurious behaviors, aggression, conduct disorder (CD) in childhood, and, possibly, ADHD. Depression in people with GTS has been shown to result in a lower quality of life, potentially leading to hospitalization and suicide. The etiology of depression appears to be multifactorial. Bipolar affective disorder (BAD) and GTS may be related in some individuals. However, it is noted that sample sizes in most of these studies were small, and it is unclear at the present time as to why BAD may be overrepresented among GTS patients.

Inter-hemispheric Intrinsic Connectivity as a Neuromarker for the Diagnosis of Boys with Tourette Syndrome.

PubMed

Liao, Wei; Yu, Yang; Miao, Huan-Huan; Feng, Yi-Xuan; Ji, Gong-Jun; Feng, Jian-Hua

2017-05-01

Tourette syndrome (TS) is associated with gross morphological changes in the corpus callosum, suggesting deficits in inter-hemispheric coordination. The present study sought to identify changes in inter-hemispheric functional and anatomical connectivity in boys with "pure" TS as well as their potential value for clinical diagnosis. TS boys without comorbidity (pure TS, n = 24) were selected from a large dataset and compared to age- and education-matched controls (n = 32). Intrinsic functional connectivity (iFC) between bilateral homotopic voxels was computed and compared between groups. Abnormal iFC was found in the bilateral prefronto-striatum-midbrain networks as well as bilateral sensorimotor and temporal cortices. The iFC between the bilateral anterior cingulate cortex (ACC) was negatively correlated with symptom severity. Anatomical connectivity strengths between functionally abnormal regions were estimated by diffusion probabilistic tractography, but no significant between-group difference was found. To test the clinical applicability of these neuroimaging findings, multivariate pattern analysis was used to develop a classification model in half of the total sample. The classification model exhibited excellent classification power for discriminating TS patients from controls in the other half samples. In summary, our findings emphasize the role of inter-hemispheric communication deficits in the pathophysiology of TS and suggest that iFC is a potential quantitative neuromarker for clinical diagnosis.

Comprehension of direct and indirect sarcastic remarks in children and adolescents with Tourette's syndrome.

PubMed

Drury, Helena; Shah, Shivani; Stern, Jeremy S; Crawford, Sarah; Channon, Shelley

2018-05-01

Previous research has reported that aspects of social cognition such as nonliteral language comprehension are impaired in adults with Tourette's syndrome (TS), but little is known about social cognition in children and adolescents with TS. The present study aims to evaluate a measure of sarcasm comprehension suitable for use with children and adolescents (Experiment 1), and to examine sarcasm comprehension in children and adolescents with TS-alone or TS and attention deficit hyperactivity disorder (ADHD; Experiment 2). In Experiment 1, the measure of sarcasm comprehension was found to be sensitive to differences in nonliteral language comprehension for typically-developing children aged 10 to 11 years old compared to children aged 8 to 9 years old; the older group performed significantly better on the comprehension of scenarios ending with either direct or indirect sarcastic remarks, whereas the two age groups did not differ on the comprehension of scenarios ending with sincere remarks. In Experiment 2, both the TS-alone and TS+ADHD groups performed below the level of the control participants on the comprehension of indirect sarcasm items but not on the comprehension of direct sarcasm items and sincere items. Those with TS+ADHD also performed below the level of the control participants on measures of interference control and fluency. The findings are discussed with reference to the possible contribution of executive functioning and mentalizing to the patterns of performance.

[Comorbidity of tics and stuttering].

PubMed

Surushkina, S Yu; Chutko, L S; Aitbekov, K A; Nikishena, I S; Bondarchuk, Yu I

2014-01-01

To determine the clinical presentations of stuttering in children with tics treated with noofen. Authors examined 181 children with tics, aged 7-13. Stuttering was identified in 23.2% of cases. Thirty children with tics and comorbid stuttering received noofen. RESULTS AND СONCLUSION: The prevalence of stuttering in children with tics was significantly higher than in the population. Stuttering was significantly more frequent in children with transient tics than chronic tics. Neurotic stuttering was recorded more frequently. The high efficacy of noofen was shown; the decrease in ticks was obtained in 80% of cases, the reduction of stuttering in 66.7% of cases. The data of clinical, psychological and neurophysiological studies, confirming the improvement of patients after treatment, are presented.

Transcranial Magnetic and Direct Current Stimulation in Children.

PubMed

Hameed, Mustafa Q; Dhamne, Sameer C; Gersner, Roman; Kaye, Harper L; Oberman, Lindsay M; Pascual-Leone, Alvaro; Rotenberg, Alexander

2017-02-01

Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy. Here, we complement recent reviews with an update of published TMS and tDCS results in children, and discuss developmental neuroscience considerations that should inform pediatric transcranial stimulation.

Transcranial Magnetic and Direct Current Stimulation in Children

PubMed Central

Hameed, Mustafa Q.; Dhamne, Sameer C.; Gersner, Roman; Kaye, Harper L.; Oberman, Lindsay M.; Pascual-Leone, Alvaro

2018-01-01

Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy. Here, we complement recent reviews with an update of published TMS and tDCS results in children, and discuss developmental neuroscience considerations that should inform pediatric transcranial stimulation. PMID:28229395

Anxiety levels in adolescents who stutter.

PubMed

Blood, Gordon W; Blood, Ingrid M; Maloney, Kristy; Meyer, Crystal; Qualls, Constance Dean

2007-01-01

High levels of anxiety can negatively affect the lives of children and adolescents. Thirty-six adolescents who stutter and 36 adolescents who do not stutter were administered standardized scales for anxiety and self-esteem. Significant differences were found for the total T-scores for Revised Children's Manifest Anxiety Scale for the two groups, although both groups mean T-scores were within normal range. Eighty-three percent of adolescents who stutter and 95% of adolescents who do not stutter earned scores in the normal range. No significant differences were found on the self-esteem scale, with 86% of adolescents who stutter and 97% of adolescents who do not stutter earning scores in the normal/positive range. Adolescents who stutter with co-occurring disorders displayed significantly higher levels of anxiety than adolescents who stutter with no co-occurring disorders. No significant differences were found between groups on ethnicity, socioeconomic class, gender and anxiety levels. A positive, significant correlation between anxiety scores and self-esteem scores was found for both groups. Readers will learn about and understand (a) the role of anxiety and self-esteem in stuttering; (b) the methods used to evaluate anxiety and self-esteem in adolescents; and (c) the similarities between adolescents who stutter and adolescents who do not stutter on anxiety and self-esteem scales.

Relations between causal attributions for stuttering and psychological well-being in adults who stutter.

PubMed

Boyle, Michael

2016-02-01

This study attempted to understand the relationship between causal attributions for stuttering and psychological well-being in adults who stutter. The study employed a cross-sectional design using a web survey distribution mode to gain information related to causal attributions and psychological well-being of 348 adults who stutter. Correlation analyses were conducted to determine relationships between participants' causal attributions (i.e. locus of causality, external control, personal control, stability, biological attributions, non-biological attributions) for stuttering and various measures of psychological well-being including self-stigma, self-esteem/self-efficacy, hope, anxiety and depression. Results indicated that higher perceptions of external control of stuttering were related to significantly lower ratings of hope and self-esteem/self-efficacy and higher ratings of anxiety and depression. Higher perceptions of personal control of stuttering were related to significantly lower ratings of self-stigma and higher ratings of hope and self-esteem/self-efficacy. Increased biological attributions were significantly related to higher ratings of permanency and unchangeableness of stuttering and lower ratings of personal control of stuttering. The findings demonstrate the importance of instilling a sense of control in PWS regarding their ability to manage their stuttering. Findings also raise questions regarding the benefits of educating PWS about the biological underpinnings of stuttering.

Comparison of Percentage of Syllables Stuttered With Parent-Reported Severity Ratings as a Primary Outcome Measure in Clinical Trials of Early Stuttering Treatment.

PubMed

Onslow, Mark; Jones, Mark; O'Brian, Sue; Packman, Ann; Menzies, Ross; Lowe, Robyn; Arnott, Simone; Bridgman, Kate; de Sonneville, Caroline; Franken, Marie-Christine

2018-04-17

This report investigates whether parent-reported stuttering severity ratings (SRs) provide similar estimates of effect size as percentage of syllables stuttered (%SS) for randomized trials of early stuttering treatment with preschool children. Data sets from 3 randomized controlled trials of an early stuttering intervention were selected for analyses. Analyses included median changes and 95% confidence intervals per treatment group, Bland-Altman plots, analysis of covariance, and Spearman rho correlations. Both SRs and %SS showed large effect sizes from pretreatment to follow-up, although correlations between the 2 measures were moderate at best. Absolute agreement between the 2 measures improved as percentage reduction of stuttering frequency and severity increased, probably due to innate measurement limitations for participants with low baseline severity. Analysis of covariance for the 3 trials showed consistent results. There is no statistical reason to favor %SS over parent-reported stuttering SRs as primary outcomes for clinical trials of early stuttering treatment. However, there are logistical reasons to favor parent-reported stuttering SRs. We conclude that parent-reported rating of the child's typical stuttering severity for the week or month prior to each assessment is a justifiable alternative to %SS as a primary outcome measure in clinical trials of early stuttering treatment.

The effects of bilingualism on stuttering during late childhood.

PubMed

Howell, P; Davis, S; Williams, R

2009-01-01

To examine stuttering by children speaking an alternative language exclusively (LE) or with English (BIL) and to study onset of stuttering, school performance and recovery rate relative to monolingual speakers who stutter (MONO). Clinical referral sample with supplementary data obtained from speech recordings and interviews. South-East England, 1999-2007. Children aged 8-12 plus who stuttered (monolingual and bilingual) and fluent bilingual controls (FB). Participants' stuttering history, SATS scores, measures of recovery or persistence of stuttering. 69 (21.8%) of 317 children were bilingual. Of 38 children who used a language other than English at home, 36 (94.7%) stuttered in both languages. Fewer LE (15/38, 39.5%) than BIL (23/38, 60.5%) children stuttered at first referral to clinic, but more children in the fluent control sample were LE (28/38, 73.7%) than BIL (10/38, 26.3%). The association between stuttering and bilingual group (LE/BIL) was significant by chi(2) test; BIL speakers have more chance of stuttering than LE speakers. Age at stuttering onset and male/female ratio for LE, BIL and MONO speakers were similar (4 years 9 months, 4 years 10 months and 4 years 3 months, and 4.1:1, 4.75:1 and 4.43:1, respectively). Educational achievement was not affected by bilingualism relative to the MONO and FB groups. The recovery rate for the LE and MONO controls together (55%) was significantly higher by chi(2) test than for the BIL group (25%). BIL children had an increased risk of stuttering and a lower chance of recovery from stuttering than LE and MONO speakers.

Speech motor planning and execution deficits in early childhood stuttering.

PubMed

Walsh, Bridget; Mettel, Kathleen Marie; Smith, Anne

2015-01-01

Five to eight percent of preschool children develop stuttering, a speech disorder with clearly observable, hallmark symptoms: sound repetitions, prolongations, and blocks. While the speech motor processes underlying stuttering have been widely documented in adults, few studies to date have assessed the speech motor dynamics of stuttering near its onset. We assessed fundamental characteristics of speech movements in preschool children who stutter and their fluent peers to determine if atypical speech motor characteristics described for adults are early features of the disorder or arise later in the development of chronic stuttering. Orofacial movement data were recorded from 58 children who stutter and 43 children who do not stutter aged 4;0 to 5;11 (years; months) in a sentence production task. For single speech movements and multiple speech movement sequences, we computed displacement amplitude, velocity, and duration. For the phrase level movement sequence, we computed an index of articulation coordination consistency for repeated productions of the sentence. Boys who stutter, but not girls, produced speech with reduced amplitudes and velocities of articulatory movement. All children produced speech with similar durations. Boys, particularly the boys who stuttered, had more variable patterns of articulatory coordination compared to girls. This study is the first to demonstrate sex-specific differences in speech motor control processes between preschool boys and girls who are stuttering. The sex-specific lag in speech motor development in many boys who stutter likely has significant implications for the dramatically different recovery rates between male and female preschoolers who stutter. Further, our findings document that atypical speech motor development is an early feature of stuttering.

Responses of adults who stutter to the anticipation of stuttering.

PubMed

Jackson, Eric S; Yaruss, J Scott; Quesal, Robert W; Terranova, Valerie; Whalen, D H

2015-09-01

Many people who stutter experience the phenomenon of anticipation-the sense that stuttering will occur before it is physically and overtly realized. A systematic investigation of how people who stutter respond to anticipation has not been previously reported. The purposes of this study were to provide self-report evidence of what people do in response to anticipation of stuttering and to determine the extent to which this anticipation occurs. Thirty adults who stutter indicated on a Likert rating scale the extent to which they anticipate stuttering and answered three open-ended (written) questions regarding how they respond to anticipation. All participants reported experiencing anticipation at least "sometimes," and 77% of the participants reported experiencing anticipation "often" or "always." The extent to which participants reported experiencing anticipation was not related to stuttering severity, impact, or treatment history. Analysis of written responses revealed 24 major categories, which were heuristically divided into action or non-action responses. Categories representing avoidance and self-management strategies were further divided into 14 and 19 subcategories, respectively. Participants were just as likely to view anticipation as helpful as they were to view it as harmful. Findings demonstrate that most, if not all, adults who stutter experience anticipation, and the majority of adults who stutter report doing so at least often. Adults who stutter respond to this anticipation by altering the speech production process in various ways. Results highlight the importance of the role that anticipation plays in how stuttering behaviors manifest themselves. The reader will be able to: (a) summarize existing literature on the anticipation of stuttering; (b) describe the role and extent of anticipation of stuttering in adults; (c) describe the various ways that adults who stutter respond to anticipation; (d) describe the importance of measuring anticipation in clinical and research domains. Copyright © 2015 Elsevier Inc. All rights reserved.

The experiences of living with a sibling who stutters: a preliminary study.

PubMed

Beilby, Janet M; Byrnes, Michelle L; Young, Kate N

2012-06-01

Stuttering impacts on the child in a variety of ways, notably in terms of communicative impairment and psychosocial impact. In addition, the stuttering disorder has a holistic impact, affecting those with whom the child who stutters lives. Within the family constellation, the closest person to the individual who stutters is often their sibling. This study investigated the experiences of fluent siblings of children who stutter to examine the impact that stuttering may have on their lives. A mixed methods research design incorporated qualitative semi-structured interviews and quantitative questionnaires. The results of the qualitative investigation revealed four aspects of children's lives that were affected by having a sibling who stuttered: the relationship between siblings, the impact on the fluent sibling, the impact on the parent relationship with both children, and the impact on the sibling's relationship with others. Findings revealed that siblings of children who stutter exhibited strongly negative emotions, and differing levels of responsibility associated with their involvement in the actual stuttering management programme. Furthermore, for the fluent sibling, secondary to having a brother or sister who stuttered, communication with and attention from their parents was variable. The results of the quantitative component of the study revealed children who stutter and their siblings demonstrated significantly greater closeness, and concurrently, increased conflict and status disparity than did the control fluent sibling dyads. The parents of the experimental sibling dyads also demonstrated significantly greater partiality towards a child, namely the child who stuttered, than did the parents of the control sibling dyads. The reader will be able to: (1) identify the themes associated with having a sibling who stutters; (2) identify how the quality of the sibling relationship differs between sibling dyads that do and do not consist of a sibling who stutters; and (3) discuss the clinical implications of the results with regards to working with children who stutter and their families. Crown Copyright © 2012. Published by Elsevier Inc. All rights reserved.

Teaching Students Who Stutter

ERIC Educational Resources Information Center

Education Digest: Essential Readings Condensed for Quick Review, 2011

2011-01-01

Stutterer's incident in class draws national attention; Stuttering Foundation responds with tips for educators. In response to the articles in the "New York Times," Jane Fraser, president of the nonprofit Stuttering Foundation, wrote in a press release eight tips for educators regarding working with students who stutter. This article presents…

Characteristics of Stuttering in Dutch-Speaking Individuals

ERIC Educational Resources Information Center

Boey, Ronny A.; Wuyts, Floris L.; van de Heyning, Paul H.; Heylen, Louis; de Bodt, Marc S.

2009-01-01

Clinical diagnostic procedures to distinguish stuttering from non-stuttering individuals partially rely on the observation of characteristics of stuttered words or syllables. The purpose of this study was to examine the sensitivity and specificity of such a procedure, and to describe the observed characteristics of stuttered words. Methods…

The Influence of Stuttering Severity on Acoustic Startle Responses

ERIC Educational Resources Information Center

Ellis, John B.; Finan, Donald S.; Ramig, Peter R.

2008-01-01

Purpose: This study examined the potential impact of stuttering severity, as measured by the Perceptions of Stuttering Inventory (Woolf, 1967) on acoustic startle responses. Method: Three groups, consisting of 10 nonstuttering adults, 9 mild stutterering adults, and 11 moderate/severe stutterering adults, were presented with identical 95-dB…

Stuttering: What It Is and What to Do About It.

ERIC Educational Resources Information Center

Ainsworth, Stanley

Written for parents, teachers, students in training, school administrators, and stutterers themselves, the book discusses the causes, development, and treatment of stuttering. Presented are a definition, incidence figures, and overview of the impact of stuttering on an individual. Traced are the beginnings and development of stuttering in four…

Differential Diagnosis of Stuttering for Forensic Purposes

ERIC Educational Resources Information Center

Seery, Carol Hubbard

2005-01-01

Purpose: This case study demonstrates the application of an assessment protocol for differential diagnosis of psychogenic stuttering, neurogenic stuttering, developmental stuttering, and malingering. Method: A male in his late 30s, accused of armed robbery, was evaluated for stuttering at the request of his defense attorney. The speech assessment…

Sympathetic arousal as a marker of chronicity in childhood stuttering.

PubMed

Zengin-Bolatkale, Hatun; Conture, Edward G; Walden, Tedra A; Jones, Robin M

2018-01-01

This study investigated whether sympathetic activity during a stressful speaking task was an early marker for stuttering chronicity. Participants were 9 children with persisting stuttering, 23 children who recovered, and 17 children who do not stutter. Participants performed a stress-inducing picture-naming task and skin conductance was measured across three time points. Findings indicated that at the initial time point, children with persisting stuttering exhibited higher sympathetic arousal during the stressful speaking task than children whose stuttering recovered. Findings are taken to suggest that sympathetic activity may be an early marker of heightened risk for chronic stuttering.

Comparison of different speech tasks among adults who stutter and adults who do not stutter

PubMed Central

Ritto, Ana Paula; Costa, Julia Biancalana; Juste, Fabiola Staróbole; de Andrade, Claudia Regina Furquim

2016-01-01

OBJECTIVES: In this study, we compared the performance of both fluent speakers and people who stutter in three different speaking situations: monologue speech, oral reading and choral reading. This study follows the assumption that the neuromotor control of speech can be influenced by external auditory stimuli in both speakers who stutter and speakers who do not stutter. METHOD: Seventeen adults who stutter and seventeen adults who do not stutter were assessed in three speaking tasks: monologue, oral reading (solo reading aloud) and choral reading (reading in unison with the evaluator). Speech fluency and rate were measured for each task. RESULTS: The participants who stuttered had a lower frequency of stuttering during choral reading than during monologue and oral reading. CONCLUSIONS: According to the dual premotor system model, choral speech enhanced fluency by providing external cues for the timing of each syllable compensating for deficient internal cues. PMID:27074176

Effects of stuttering severity and therapy involvement on attitudes towards people who stutter.

PubMed

Gabel, Rodney M

2006-01-01

The purpose of this study was to explore whether stuttering severity or therapy involvement had an effect on the attitudes that individuals who do not stutter reported towards people who stutter (PWS). Two hundred and sixty (260) university students participated in this study. Direct survey procedures consisting of a 25-item semantic differential scale were utilized. Comparisons of the effects of stuttering severity, level of therapy involvement, and the interaction of these variables were completed. Results suggested that both stuttering severity and therapy involvement had significant effects on participants' attitudes towards PWS. Findings of this study support past research studies that has found that individuals who stutter mildly are perceived more positively than those who are severe. Similarly, the data supported past research that has found that PWS that attend therapy are perceived more positively than those who do not attend therapy. Surprisingly, the interaction of these variables was not significant. The reader will be able to: (1) explain the possible effects of listeners' attitudes toward stuttering on the lives of PWS; (2) discuss how different factors might alter listeners' attitudes towards stuttering; (3) delineate how stuttering severity and involvement in therapy might impact listeners' attitudes towards PWS.

Public awareness and knowledge of stuttering in Japan.

PubMed

Iimura, Daichi; Yada, Yasuto; Imaizumi, Kazuya; Takeuchi, Toshimitsu; Miyawaki, Manami; Van Borsel, John

To determine laypeople's knowledge and awareness of stuttering in Japan. A total of 303 respondents, recruited by street sampling, completed a questionnaire assessing the prevalence, onset, gender distribution, occurrence in different races, cause, treatment, association with intelligence, and hereditariness of stuttering. The questionnaire used was a Japanese version of that devised by Van Borsel, Verniers, and Bouvry (1999) for use in Belgium. Although around half of the respondents had heard or met a stutterer, they tended to misunderstand the stuttering; e.g., respondents estimated the prevalence of stuttering as high. Knowledge also differed according to age, gender, and education level. Specifically, older individuals, females, and individuals with higher levels of education tended to have greater knowledge of stuttering. In comparing the results of the present study with similar studies conducted in Belgium, China, and Brazil, we observed several similarities and differences. Although most respondents were to some extent familiar with stuttering, their overall knowledge of the condition was limited. Certain factors could be involved in having knowledge of stuttering, such as one's life experience, cultural background, and social attitudes toward stuttering. The findings suggest the need for growing knowledge and awareness of stuttering. Copyright © 2018 Elsevier Inc. All rights reserved.

Stuttering: A novel bullfrog vocalization

NASA Astrophysics Data System (ADS)

Simmons, Andrea; Suggs, Dianne

2004-05-01

The advertisement call of male bullfrogs (Rana catesbeiana) consists of a series of individual croaks, each of which contains multiple harmonics with a missing or attenuated fundamental frequency of approximately 100 Hz. The envelope of individual croaks has typically been represented in the literature as smooth and unmodulated. From an analysis of 5251 advertisement calls from 17 different choruses over two mating seasons, we show that males add an extra modulation (around 4 Hz) to the envelope of individual croaks, following specific rules. We term these extra modulations stutters. Neither single croak calls nor the first croak in multiple croak calls contains stutters. When stuttering begins, it does so with a croak containing a single stutter, and the number of stutters increases linearly (plus or minus 1 stutter, up to 4 stutters) with the number of croaks. This pattern is stable across individual males (N=10). Playback experiments reveal that vocal responses to stuttered and nonstuttered calls vary with proximity to the stimulus. Close males respond with nonstuttered calls, while far males respond with stuttered calls. The data suggest that nonstuttered calls are used for aggressive or territorial purposes, while stuttered calls are used to attract females.

Anticipation in stuttering: A theoretical model of the nature of stutter prediction.

PubMed

Garcia-Barrera, Mauricio A; Davidow, Jason H

2015-06-01

The fact that some people who stutter have the ability to anticipate a stuttering moment is essential for several theories of stuttering and important for maximum effectiveness of many currently used treatment techniques. The "anticipation effect," however, is poorly understood despite much investigation into this phenomenon. In the present paper, we combine (1) behavioral evidence from the stuttering-anticipation literature, (2) speech production models, and (3) models of error detection to propose a theoretical model of anticipation. Integrating evidence from theories such as Damasio's Somatic Marker Hypothesis, Levelt's Perceptual Monitoring Theory, Guenther's The Directions Into Velocities of Articulators (DIVA) model, Postma's Covert Repair Hypothesis, among others, our central thesis is that the anticipation of a stuttering moment occurs as an outcome of the interactions between previous learning experiences (i.e., learnt associations between stuttered utterances and any self-experienced or environmental consequence) and error monitoring. Possible neurological mechanisms involved in generating conscious anticipation are also discussed, along with directions for future research. The reader will be able to: (a) describe historical theories that explain how PWS may learn to anticipate stuttering; (b) state some traditional sources of evidence of anticipation in stuttering; (c) describe how PWS may be sensitive to the detection of a stuttering; (d) state some of the neural correlates that may underlie anticipation in stuttering; and (e) describe some of the possible utilities of incorporating anticipation into stuttering interventions. Copyright © 2015 Elsevier Inc. All rights reserved.

Auditory abilities of speakers who persisted, or recovered, from stuttering

PubMed Central

Howell, Peter; Davis, Stephen; Williams, Sheila M.

2006-01-01

Objective The purpose of this study was to see whether participants who persist in their stutter have poorer sensitivity in a backward masking task compared to those participants who recover from their stutter. Design The auditory sensitivity of 30 children who stutter was tested on absolute threshold, simultaneous masking, backward masking with a broadband and with a notched noise masker. The participants had been seen and diagnosed as stuttering at least 1 year before their 12th birthday. The participants were assessed again at age 12 plus to establish whether their stutter had persisted or recovered. Persistence or recovery was based on participant's, parent's and researcher's assessment and Riley's [Riley, G. D. (1994). Stuttering severity instrument for children and adults (3rd ed.). Austin, TX: Pro-Ed.] Stuttering Severity Instrument-3. Based on this assessment, 12 speakers had persisted and 18 had recovered from stuttering. Results Thresholds differed significantly between persistent and recovered groups for the broadband backward-masked stimulus (thresholds being higher for the persistent group). Conclusions Backward masking performance at teenage is one factor that distinguishes speakers who persist in their stutter from those who recover.

 Education objectives: Readers of this article should: (1) explain why auditory factors have been implicated in stuttering; (2) summarise the work that has examined whether peripheral, and/or central, hearing are problems in stuttering; (3) explain how the hearing ability of persistent and recovered stutterers may differ; (4) discuss how hearing disorders have been implicated in other language disorders. PMID:16920188

Long- and short-term results of children's and adolescents' therapy courses for stuttering.

PubMed

Laiho, Auli; Klippi, Anu

2007-01-01

It is widely known that most young children recover from stuttering. Evaluations of this spontaneous recovery vary from 40 to 80% of stuttering children. However, if the child is already older than 6 years of age, the spontaneous recovery will be less likely. The effectiveness of stuttering treatment, and especially fluency shaping methods, has been frequently studied. Good results in the treatment of stuttering for school-aged children have been accomplished by several treatment methods. However, stuttering modification treatments have not been studied so intensively. This study addresses the effects of intensive therapy courses on the stuttering behaviour of children and adolescents. The courses included speech therapy, where stuttering modification treatment was used, and also parental guidance. Taking part in the study were 21 children/adolescents who stutter, and 29 of their mothers/fathers took part in the study. The children were between the ages of 6.8 and 14.0 years. The effectiveness of therapy was evaluated in three ways. First, the speech of the children who stutter was videotaped at both the beginning and the end of the course and the samples were transcribed and analysed. Second, the parents and adolescents completed a feedback questionnaire at the end of the course. And third, the parents and adolescents completed a follow-up questionnaire 9 months after the course. The aim was to evaluate the changes in stuttering behaviour after the therapy course. The results indicate that stuttering severity became milder or did not change during the course. The percentage of syllables stuttered dropped with two-thirds of the participants. This result was replicated with avoidance behaviour and struggle behaviour. The quality of stuttering became milder, and by the end many children had shorter moments of stuttering and more repetitions and prolongation instead of blocks. Two participants did not complete the questionnaire. Of those who did, all but one adolescent, and all except one parent, reported that the positive changes in stuttering behaviour had continued during the follow-up period. The implication is that intensive therapy courses can be helpful to some participants who stutter.

Gestural recovery and the role of forward and reversed syllabic repetitions as stuttering inhibitors in adults.

PubMed

Kalinowski, Joseph; Saltuklaroglu, Tim; Guntupalli, Vijaya; Stuart, Andrew

2004-06-10

Instead of being the core stuttering 'problem', syllabic repetitions may be a biological mechanism, or 'solution', to the central involuntary stuttering block. Simply put, stuttering is an endogenous transitory state of 'shadowed speech', a choral speech derivative that allows for a neural release of the central block. To investigate this possibility, 14 adults who stutter read while listening to forward fluent speech, reversed fluent speech, forward stuttered speech, and reversed stuttered speech. All conditions induced significant degrees of stuttering inhibition when compared to a control condition. However, the reversed fluent condition was less powerful than the other three conditions ( approximately 42% vs. approximately 65%) for inhibiting stuttering. Stuttering inhibition appears to proceed by 'gestural recovery', made possible by the presence of an exogenous or 'second' set of speech gestures and engagement of mirror neurons. When reversed fluent speech was used, violations in normal gesture-time relationships (i.e., normal speech entropy) resulted in gestural configurations that apparently were inadequately recovered, and therefore, were not as conducive to high levels of stuttering inhibition. In contrast, high levels of encoding found in the simple syllabic structures of stuttered speech allowed its forward and reversed forms to be equally effective for gestural recovery and stuttering inhibition. The reversal of repeated syllables did not appear to significantly degrade the natural gesture-time relationships (i.e., they were perceptually recognizable). Thus, exogenous speech gestures that displayed near normal gestural relationships allowed for easy recovery and fluent productions via mirror systems, suggesting a more choral-like nature. The importance of syllabic repetitions is highlighted: both their perceived (exogenous) and produced (endogenous) forms appear to be fundamental, surface acoustic manifestations for central stuttering inhibition via the engagement of mirror neurons.

The effects of bilingualism on stuttering during late childhood

PubMed Central

Howell, P; Davis, S; Williams, R

2009-01-01

Objectives: To examine stuttering by children speaking an alternative language exclusively (LE) or with English (BIL) and to study onset of stuttering, school performance and recovery rate relative to monolingual speakers who stutter (MONO). Design: Clinical referral sample with supplementary data obtained from speech recordings and interviews. Setting: South-East England, 1999–2007. Participants: Children aged 8–12 plus who stuttered (monolingual and bilingual) and fluent bilingual controls (FB). Main outcome measures: Participants’ stuttering history, SATS scores, measures of recovery or persistence of stuttering. Results: 69 (21.8%) of 317 children were bilingual. Of 38 children who used a language other than English at home, 36 (94.7%) stuttered in both languages. Fewer LE (15/38, 39.5%) than BIL (23/38, 60.5%) children stuttered at first referral to clinic, but more children in the fluent control sample were LE (28/38, 73.7%) than BIL (10/38, 26.3%). The association between stuttering and bilingual group (LE/BIL) was significant by χ2 test; BIL speakers have more chance of stuttering than LE speakers. Age at stuttering onset and male/female ratio for LE, BIL and MONO speakers were similar (4 years 9 months, 4 years 10 months and 4 years 3 months, and 4.1:1, 4.75:1 and 4.43:1, respectively). Educational achievement was not affected by bilingualism relative to the MONO and FB groups. The recovery rate for the LE and MONO controls together (55%) was significantly higher by χ2 test than for the BIL group (25%). Conclusions: BIL children had an increased risk of stuttering and a lower chance of recovery from stuttering than LE and MONO speakers. PMID:18782846

Revisiting speech rate and utterance length manipulations in stuttering speakers.

PubMed

Blomgren, Michael; Goberman, Alexander M

2008-01-01

The goal of this study was to evaluate stuttering frequency across a multidimensional (2x2) hierarchy of speech performance tasks. Specifically, this study examined the interaction between changes in length of utterance and levels of speech rate stability. Forty-four adult male speakers participated in the study (22 stuttering speakers and 22 non-stuttering speakers). Participants were audio and video recorded while producing a spontaneous speech task and four different experimental speaking tasks. The four experimental speaking tasks involved reading a list of 45 words and a list 45 phrases two times each. One reading of each list involved speaking at a steady habitual rate (habitual rate tasks) and another reading involved producing each list at a variable speaking rate (variable rate tasks). For the variable rate tasks, participants were directed to produce words or phrases at randomly ordered slow, habitual, and fast rates. The stuttering speakers exhibited significantly more stuttering on the variable rate tasks than on the habitual rate tasks. In addition, the stuttering speakers exhibited significantly more stuttering on the first word of the phrase length tasks compared to the single word tasks. Overall, the results indicated that varying levels of both utterance length and temporal complexity function to modulate stuttering frequency in adult stuttering speakers. Discussion focuses on issues of speech performance according to stuttering severity and possible clinical implications. The reader will learn about and be able to: (1) describe the mediating effects of length of utterance and speech rate on the frequency of stuttering in stuttering speakers; (2) understand the rationale behind multidimensional skill performance matrices; and (3) describe possible applications of motor skill performance matrices to stuttering therapy.

Stuttering in adults: the acoustic startle response, temperamental traits, and biological factors.

PubMed

Alm, Per A; Risberg, Jarl

2007-01-01

The purpose of this study was to investigate the relation between stuttering and a range of variables of possible relevance, with the main focus on neuromuscular reactivity, and anxiety. The explorative analysis also included temperament, biochemical variables, heredity, preonset lesions, and altered auditory feedback (AAF). An increased level of neuromuscular reactivity in stuttering adults has previously been reported by [Guitar, B. (2003). Acoustic startle responses and temperament in individuals who stutter. Journal of Speech Language and Hearing Research, 46, 233-240], also indicating a link to anxiety and temperament. The present study included a large number of variables in order to enable analysis of subgroups and relations between variables. Totally 32 stuttering adults were compared with nonstuttering controls. The acoustic startle eyeblink response was used as a measure of neuromuscular reactivity. No significant group difference was found regarding startle, and startle was not significantly correlated with trait anxiety, stuttering severity, or AAF. Startle was mainly related to calcium and prolactin. The stuttering group had significantly higher scores for anxiety and childhood ADHD. Two subgroups of stuttering were found, with high versus low traits of childhood ADHD, characterized by indications of preonset lesions versus heredity for stuttering. The study does not support the view that excessive reactivity is a typical characteristic of stuttering. The increased anxiety is suggested to mainly be an effect of experiences of stuttering. As a result of reading this article, the reader will be able to: (a) critically discuss the literature regarding stuttering in relation to acoustic startle, anxiety, and temperament; (b) describe the effect of calcium on neuromuscular reactivity; (c) discuss findings supporting the importance of early neurological incidents in some cases of stuttering, and the relation between such incidents and traits of ADHD or ADD; and (d) discuss the role of genetics in stuttering.

Korean speech-language pathologists' attitudes toward stuttering according to clinical experiences.

PubMed

Lee, Kyungjae

2014-11-01

Negative attitudes toward stuttering and people who stutter (PWS) are found in various groups of people in many regions. However the results of previous studies examining the influence of fluency coursework and clinical certification on the attitudes of speech-language pathologists (SLPs) toward PWS are equivocal. Furthermore, there have been few empirical studies on the attitudes of Korean SLPs toward stuttering. To determine whether the attitudes of Korean SLPs and speech-language pathology students toward stuttering would be different according to the status of clinical certification, stuttering coursework completion and clinical practicum in stuttering. Survey data from 37 certified Korean SLPs and 70 undergraduate students majoring in speech-language pathology were analysed. All the participants completed the modified Clinician Attitudes Toward Stuttering (CATS) Inventory. Results showed that the diagnosogenic view was still accepted by many participants. Significant differences were found in seven out of 46 CATS Inventory items according to the certification status. In addition significant differences were also found in three items and one item according to stuttering coursework completion and clinical practicum experience in stuttering, respectively. Clinical and educational experience appears to have mixed influences on SLPs' and students' attitudes toward stuttering. While SLPs and students may demonstrate more appropriate understanding and knowledge in certain areas of stuttering, they may feel difficulty in their clinical experience, possibly resulting in low self-efficacy. © 2014 Royal College of Speech and Language Therapists.

Beliefs and behavioural intentions towards pharmacotherapy for stuttering: A survey of adults who stutter.

PubMed

McGroarty, Allan; McCartan, Rebecca

Although considerable efforts have been made to investigate the effectiveness of pharmacological treatments for stuttering, little is known about how the stuttering community perceives these treatments. This study aimed to assess and quantify beliefs regarding pharmacotherapy for adults who stutter and to establish whether behavioural intentions to undertake treatment were related to these beliefs. An adapted version of the Beliefs about Medicine Questionnaire was completed by adults who stutter. Participants also reported perceptions of their stuttering including its overall impact, ratings of previous speech therapy, and behavioural intentions to initiate pharmacotherapy and speech therapy in future. Necessity and concern beliefs were distributed widely across the sample and in a pattern indicating a relatively balanced perception of the benefits and costs of medication prescribed specifically for stuttering. Of the study's measures, the necessity-concerns differential most strongly predicted the behavioural intention to initiate pharmacotherapy. The overall impact of stuttering predicted intentions to seek both pharmacotherapy and speech therapy. Participants reported the likelihood of pursuing pharmacotherapy and speech therapy in equal measure. The theoretical model of medication representations appears to be a useful framework for understanding the beliefs of adults who stutter towards the medical treatment of their disorder. The findings of this study may be of interest to clinicians and researchers working in the field of stuttering treatment and to people who stutter considering pharmacotherapy. Copyright © 2018 Elsevier Inc. All rights reserved.

Does Language Influence the Accuracy of Judgments of Stuttering in Children?

ERIC Educational Resources Information Center

Einarsdottir, Johanna; Ingham, Roger J.

2009-01-01

Purpose: To determine whether stuttering judgment accuracy is influenced by familiarity with the stuttering speaker's language. Method: Audiovisual 7-min speech samples from nine 3- to 5-year-olds were used. Icelandic children who stutter (CWS), preselected for different levels of stuttering, were subdivided into 5-s intervals. Ten experienced…

Using Statistical Process Control Charts to Study Stuttering Frequency Variability during a Single Day

ERIC Educational Resources Information Center

Karimi, Hamid; O'Brian, Sue; Onslow, Mark; Jones, Mark; Menzies, Ross; Packman, Ann

2013-01-01

Purpose: Stuttering varies between and within speaking situations. In this study, the authors used statistical process control charts with 10 case studies to investigate variability of stuttering frequency. Method: Participants were 10 adults who stutter. The authors counted the percentage of syllables stuttered (%SS) for segments of their speech…

Stuttering, Emotions, and Heart Rate during Anticipatory Anxiety: A Critical Review

ERIC Educational Resources Information Center

Alm, Per A.

2004-01-01

Persons who stutter often report their stuttering is influenced by emotional reactions, yet the nature of such relation is still unclear. Psychophysiological studies of stuttering have failed to find any major association between stuttering and the activity of the sympathetic nervous system. A review of published studies of heart rate in relation…

Preliminary Evidence That Growth in Productive Language Differentiates Childhood Stuttering Persistence and Recovery

ERIC Educational Resources Information Center

Leech, Kathryn A.; Ratner, Nan Bernstein; Brown, Barbara; Weber, Christine M.

2017-01-01

Purpose: Childhood stuttering is common but is often outgrown. Children whose stuttering persists experience significant life impacts, calling for a better understanding of what factors may underlie eventual recovery. In previous research, language ability has been shown to differentiate children who stutter (CWS) from children who do not stutter,…

Comparisons of Audio and Audiovisual Measures of Stuttering Frequency and Severity in Preschool-Age Children

ERIC Educational Resources Information Center

Rousseau, Isabelle; Onslow, Mark; Packman, Ann; Jones, Mark

2008-01-01

Purpose: To determine whether measures of stuttering frequency and measures of overall stuttering severity in preschoolers differ when made from audio-only recordings compared with audiovisual recordings. Method: Four blinded speech-language pathologists who had extensive experience with preschoolers who stutter measured stuttering frequency and…

The Client's Perspective on Voluntary Stuttering.

PubMed

Byrd, Courtney T; Gkalitsiou, Zoi; Donaher, Joe; Stergiou, Erin

2016-08-01

Voluntary stuttering is a strategy that has been suggested for use in the clinical literature but has minimal empirical data regarding treatment outcomes. The purpose of the present study is to explore client perspectives regarding the impact of the use of this strategy on the affective, behavioral, and cognitive components of stuttering. The present study used an original survey designed to explore the intended purpose. A total of 206 adults who stutter were included in the final data corpus. Responses were considered with respect to the type of voluntary stuttering the participants reportedly produced and the location of use. A client perceives significantly greater affective, behavioral, and cognitive benefits from voluntary stuttering when the production is closely matched to the client's actual stutter and when it is used outside the clinical environment. To enhance client perception of associated benefits, clinicians should encourage use of voluntary stuttering that closely matches the client's own stuttering. Clinicians should also facilitate practice of voluntary stuttering outside of the therapy room. Finally, clinicians should be aware that clients, at least initially, may not perceive any benefits from the use of this strategy.

Language ability of children with and without a history of stuttering: a longitudinal cohort study.

PubMed

Watts, Amy; Eadie, Patricia; Block, Susan; Mensah, Fiona; Reilly, Sheena

2015-02-01

This study aims to determine whether the communication and language skills of children who have a history of stuttering are different from children who do not have a history of stuttering at ages 2-5 years. This study utilizes data from the Early Language in Victoria Study (ELVS), a longitudinal study with a community sample of 1910 children recruited in Melbourne, Australia, as well as a concurrent study examining the onset and progression of stuttering. Participants with a history of stuttering (n = 181) and a control group without a history of stuttering (n = 1438) were identified according to the established protocol of these two existing studies. The stuttering group scored higher than the non-stuttering group on all of the communication and language outcomes measured. The group differences were statistically significant on four of the seven measures and these findings were maintained when potentially confounding factors were controlled for. Importantly, the children with a history of stuttering, as a group, and the control group without a history of stuttering demonstrated developmentally-appropriate early communication and language skills.

The accuracy with which adults who do not stutter predict stuttering-related communication attitudes.

PubMed

Logan, Kenneth J; Willis, Julie R

2011-12-01

The purpose of this study was to examine the extent to which adults who do not stutter can predict communication-related attitudes of adults who do stutter. 40 participants (mean age of 22.5 years) evaluated speech samples from an adult with mild stuttering and an adult with severe stuttering via audio-only (n=20) or audio-visual (n=20) modes to predict how the adults had responded on the S24 scale of communication attitudes. Participants correctly predicted which speaker had the more favorable S24 score, and the predicted scores were significantly different between the severity conditions. Across the four subgroups, predicted S24 scores differed from actual scores by 4-9 points. Predicted values were greater than the actual values for 3 of 4 subgroups, but still relatively positive in relation to the S24 norm sample. Stimulus presentation mode interacted with stuttering severity to affect prediction accuracy. The participants predicted the speakers' negative self-attributions more accurately than their positive self-attributions. Findings suggest that adults who do not stutter estimate the communication-related attitudes of specific adults who stutter in a manner that is generally accurate, though, in some conditions, somewhat less favorable than the speaker's actual ratings. At a group level, adults who do not stutter demonstrate the ability to discern minimal versus average levels of attitudinal impact for speakers who stutter. The participants' complex prediction patterns are discussed in relation to stereotype accuracy and classic views of negative stereotyping. The reader will be able to (a) summarize main findings on research related to listeners' attitudes toward people who stutter, (b) describe the extent to which people who do not stutter can predict the communication attitudes of people who do stutter; and (c) discuss how findings from the present study relate to previous findings on stereotypes about people who stutter. Copyright © 2011 Elsevier Inc. All rights reserved.

A life-time of stuttering: how emotional reactions to stuttering impact activities and participation in older people.

PubMed

Bricker-Katz, Geraldine; Lincoln, Michelle; McCabe, Patricia

2009-01-01

The International Classification of Functioning, Disability and Health (ICF) framework has a pragmatic focus on how impairment impacts the individual's activities and participation. Stuttering is known to impact communication in younger adults but this has not been established in older people who stutter. In this study, emotional reactions to stuttering were investigated in a group 55 years and older who self-reported stuttering since childhood. This was a cross-sectional descriptive design. Twelve participants who self-reported that they still stuttered and in whom stuttering was confirmed, and 14 controls completed the Fear of Negative Evaluation Scale (FNES), The Endler Multi-dimensional Anxiety Scales-Trait (EMAS-T) and The Australian Personal Wellbeing Index (PWA-I). Participants whose stuttering persisted also completed the Overall Assessment of Speakers Experience of Stuttering (OASES). The group who stuttered scored significantly higher on the FNES, with scores in the social phobia range. Responses on the OASES showed that stuttering continues to be a negative experience for this older group. Results for the EMAS-T and PWA-I were within the average range across both participant groups however significant differences existed between the groups in the social evaluative and physical danger domains of the EMAS-T, and the satisfaction with health domain of the PWA-I. Significant fear of negative evaluation, which is the key feature for social anxiety, was found in the group of older people who stuttered with a higher level of trait anxiety in social evaluative domains. The OASES showed that they also reacted to stuttering and communication in daily situations with moderate to severe impact scores which showed that stuttering impacted on speaking activities and by those negative experiences limited communication. Limited communication and restricted participation in the lives of older people have implications for healthy productive ageing and this is discussed.

Responses of adults who stutter to the anticipation of stuttering

PubMed Central

Jackson, Eric S.; Yaruss, J. Scott; Quesal, Robert W.; Terranova, Valerie; Whalen, D. H.

2016-01-01

Purpose Many people who stutter experience the phenomenon of anticipation—the sense that stuttering will occur before it is physically and overtly realized. A systematic investigation of how people who stutter respond to anticipation has not been previously reported. The purposes of this study were to provide self-report evidence of what people do in response to anticipation of stuttering and to determine the extent to which this anticipation occurs. Methods Thirty adults who stutter indicated on a Likert rating scale the extent to which they anticipate stuttering and answered three open-ended (written) questions regarding how they respond to anticipation. Results All participants reported experiencing anticipation at least “sometimes,” and 77% of the participants reported experiencing anticipation “often” or “always.” The extent to which participants reported experiencing anticipation was not related to stuttering severity, impact, or treatment history. Analysis of written responses revealed 24 major categories, which were heuristically divided into action or non-action responses. Categories representing avoidance and self-management strategies were further divided into 14 and 19 subcategories, respectively. Participants were just as likely to view anticipation as helpful as they were to view it as harmful. Conclusion Findings demonstrate that most, if not all, adults who stutter experience anticipation, and the majority of adults who stutter report doing so at least often. Adults who stutter respond to this anticipation by altering the speech production process in various ways. Results highlight the importance of the role that anticipation plays in how stuttering behaviors manifest themselves. PMID:26065618

A comparison of three strategies for reducing the public stigma associated with stuttering.

PubMed

Boyle, Michael P; Dioguardi, Lauren; Pate, Julie E

2016-12-01

The effects of three anti-stigma strategies for stuttering-contact (hearing personal stories from an individual who stutters), education (replacing myths about stuttering with facts), and protest (condemning negative attitudes toward people who stutter)-were examined on attitudes, emotions, and behavioral intentions toward people who stutter. Two hundred and twelve adults recruited from a nationwide survey in the United States were randomly assigned to one of the three anti-stigma conditions or a control condition. Participants completed questionnaires about stereotypes, negative emotional reactions, social distance, discriminatory intentions, and empowerment regarding people who stutter prior to and after watching a video for the assigned condition, and reported their attitude changes about people who stutter. Some participants completed follow-up questionnaires on the same measures one week later. All three anti-stigma strategies were more effective than the control condition for reducing stereotypes, negative emotions, and discriminatory intentions from pretest to posttest. Education and protest effects for reducing negative stereotypes were maintained at one-week follow-up. Contact had the most positive effect for increasing affirming attitudes about people who stutter from pretest to posttest and pretest to follow-up. Participants in the contact and education groups, but not protest, self-reported significantly more positive attitude change about people who stutter as a result of watching the video compared to the control group. Advocates in the field of stuttering can use education and protest strategies to reduce negative attitudes about people who stutter, and people who stutter can increase affirming attitudes through interpersonal contact with others. Copyright © 2016 Elsevier Inc. All rights reserved.

Autonomic arousal in adults who stutter prior to various reading tasks intended to elicit changes in stuttering frequency.

PubMed

Bowers, Andrew; Saltuklaroglu, Tim; Kalinowski, Joseph

2012-01-01

This study examined relationships between anticipatory autonomic arousal and stuttering in four reading tasks. 13 adult persons who stutter (PWS) reported their 'feared' (expected to elicit more stuttering) sounds. They read phrases initiated by feared (F) and neutral (N) phonemes. Both stimuli sets were read solo (S) and with choral accompaniment (C), creating FS, FC, NS, and NC conditions. Skin conductance (SC) and heart rate (HR) measures were made during a 9s window that followed stimulus presentation and preceded speaking. Only SC measures produced significant differences across conditions. Choral conditions produced decreases in SC measures and stuttered trials. Feared conditions produced increases in SC but not stuttering. HR measures were variable, undifferentiated by condition, but produced a gradually increasing triphasic response pattern. No differences in anticipatory SC or HR measures were found in stuttered versus fluent trial comparisons. However, the NC condition, which eliminated stuttering, produced significantly lower SC measures than the fluent utterances in the other conditions (FS, FC, NS). Furthermore, SC measures from the fluent and stuttered trials were similar in these three conditions. These findings suggest that anticipatory autonomic arousal is better differentiated by the possibility of stuttering than by a fluent/stuttered speech outcome. Trials that produced anticipatory SC responses showed greater final HR deceleration, suggesting autonomic coactivation, a response pattern that is associated with aversive stimuli and herein, likely indicative of speech-related state anxiety. However, these physiological markers of anxiety appear to be neither necessary nor sufficient to induce observable stuttering. Copyright © 2011 Elsevier B.V. All rights reserved.

Phonological skills and disfluency levels in preschool children who stutter.

PubMed

Gregg, Brent Andrew; Yairi, Ehud

2007-01-01

The relation between stuttering and aspects of language, including phonology, has been investigated for many years. Whereas past literature reported that the incidence of phonological difficulties is higher for children who stutter when compared to normally fluent children, the suggestion of association between the two disorders also drew several critical evaluations. Nevertheless, only a limited amount of information exists concerning the manner and extent to which the speech sound errors exhibited by young children who stutter, close to stuttering onset, is related to the characteristics of their stuttering, such as its severity. Conversely, information is limited regarding the effects a child's phonological skills may have on his/her stuttering severity. The current study investigated the mutual relations between these two factors in 28 carefully selected preschool children near the onset of their stuttering. The children, 20 boys and 8 girls, ranged in age from 25 to 38 months, with a mean of 32.2 months. The phonological skills of two groups with different ratings of stuttering were compared. Similarly, the stuttering severities of two groups with different levels of phonological skills (minimal deviations-moderate deviations) were compared. No statistically significant differences were found for either of the two factors. Inspection of the data revealed interesting individual differences. The reader will be able to list: (1) differences in the phonological skills of preschool children whose stuttering is severe as compared to children whose stuttering is mild and (2) differences in stuttering severity in preschool children with minimal phonological deviations as compared to children with moderate phonological deviations.

The experience of stuttering among Ultra-Orthodox and Secular/Traditional Jews.

PubMed

Freud, Debora; Ezrati-Vinacour, Ruth; Katz-Bernstein, Nitza; Fostick, Leah

2017-12-01

This groundbreaking research compares the experience of stuttering among adult male People Who Stutter (PWS) from the ultra-Orthodox (UO) Jewish community in Israel to those from Secular/Traditional (ST) backgrounds. Participants were 32 UO and 31 ST PWS, aged 18-67 years. Self-report questionnaires utilized: Perceived Stuttering Severity (PSS); Overall Assessment of the Speaker's Experience of Stuttering (OASES-A); Students' Life Satisfaction Scale (SLSS); Situation Avoidance Behavior Checklist (SABC). Demographic, religious, and stuttering information was collected. Groups were compared on scales, and correlations between scales and the PSS. Subjective stuttering severity ratings were significantly higher among the UO. A significant group effect was found for the OASES-A quality of life subscale, but not other subscales. Significant positive correlations were found between: 1) PSS and OASES-A Total Impact; 2) PSS and 3 OASES subscales; and 3) PSS and SABC (indicating increased avoidance with increased stuttering severity rating). A significant negative correlation was found between the PSS and SLSS, indicating lower life satisfaction with higher rates of stuttering severity among the ST. Interestingly, when tested by group, significant correlations between the PSS and all other study measures were observed only among the ST. UO participants showed higher subjective stuttering severity ratings, yet less impact on quality of life, and no correlation between subjective stuttering and other measures of stuttering experience. These novel findings may result from the combined protective effect of religiosity and socio-cultural characteristics on UO PWS' well-being, despite heightened concern about social consequences of stuttering within UO society. Copyright © 2017 Elsevier Inc. All rights reserved.

Phonological neighborhood and word frequency effects in the stuttered disfluencies of children who stutter.

PubMed

Anderson, Julie D

2007-02-01

The purpose of this study was to examine (a) the role of neighborhood density (number of words that are phonologically similar to a target word) and frequency variables on the stuttering-like disfluencies of preschool children who stutter, and (b) whether these variables have an effect on the type of stuttering-like disfluency produced. A 500+ word speech sample was obtained from each participant (N = 15). Each stuttered word was randomly paired with the firstly produced word that closely matched it in grammatical class, familiarity, and number of syllables/phonemes. Frequency, neighborhood density, and neighborhood frequency values were obtained for the stuttered and fluent words from an online database. Findings revealed that stuttered words were lower in frequency and neighborhood frequency than fluent words. Words containing part-word repetitions and sound prolongations were also lower in frequency and/or neighborhood frequency than fluent words, but these frequency variables did not have an effect on single-syllable word repetitions. Neighborhood density failed to influence the susceptibility of words to stuttering, as well as the type of stuttering-like disfluency produced. In general, findings suggest that neighborhood and frequency variables not only influence the fluency with which words are produced in speech, but also have an impact on the type of stuttering-like disfluency produced.

University students' perceptions of pre-school and kindergarten children who stutter.

PubMed

Betz, Ilana Roth; Blood, Gordon W; Blood, Ingrid M

2008-01-01

To determine how early "the stuttering stereotype" is assigned, 160 university students rated a hypothetical vignette depicting either a 3-, 4-, 5-, or 6-year-old with or without the statement "He stutters". A factor analysis of the semantic differential scale showed a three-factor solution comprised of 17 of the 25 bi-polar adjective pairs. The factor labeled personality showed significantly more negative ratings for 2-, 4-, 5-, or 6-year-old children based on the inclusion of the "He stutters" sentence. There were no differences between male and female raters. A significant difference was found between raters who were knew someone who stuttered and raters who did not know someone who stuttered on the personality factor. Raters who were knew someone who stuttered were significantly more likely to assign more positive ratings to the children. Readers should be able to learn and understand: (1) the research describing the negative stereotypes associated with stuttering; (2) the vignette method used to evaluate stereotypes in children and youth; (3) the negative perceptions of the sentence "He stutters" on raters' perception of personality, sociability and speech for children as young as 3-, 4-, 5-, or 6-year-olds; and (4) the familiarity with a person who stutters and raters' perceptions of children who stutter.

Stuttering in English-Mandarin bilingual speakers: the influence of language dominance on stuttering severity.

PubMed

Lim, Valerie P C; Lincoln, Michelle; Chan, Yiong Huak; Onslow, Mark

2008-12-01

English and Mandarin are the 2 most spoken languages in the world, yet it is not known how stuttering manifests in English-Mandarin bilinguals. In this research, the authors investigated whether the severity and type of stuttering is different in English and Mandarin in English-Mandarin bilinguals, and whether this difference was influenced by language dominance. Thirty English-Mandarin bilinguals who stutter (BWS), ages 12-44 years, were categorized into 3 groups (15 English-dominant, 4 Mandarin-dominant, and 11 balanced bilinguals) using a self-report classification tool. Three 10-min conversations in English and Mandarin were assessed by 2 English-Mandarin bilingual clinicians for percent syllables stuttered (%SS), perceived stuttering severity (SEV), and types of stuttering behaviors using the Lidcombe Behavioral Data Language (LBDL; Packman & Onslow, 1998; Teesson, Packman, & Onslow, 2003). English-dominant and Mandarin-dominant BWS exhibited higher %SS and SEV scores in their less dominant language, whereas the scores for the balanced bilinguals were similar for both languages. The difference in the percentage of stutters per LBDL category between English and Mandarin was not markedly different for any bilingual group. Language dominance appeared to influence the severity but not the types of stuttering behaviors in BWS. Clinicians working with BWS need to assess language dominance when diagnosing stuttering severity in bilingual clients.

Stuttering in relation to anxiety, temperament, and personality: review and analysis with focus on causality.

PubMed

Alm, Per A

2014-06-01

Anxiety and emotional reactions have a central role in many theories of stuttering, for example that persons who stutter would tend to have an emotionally sensitive temperament. The possible relation between stuttering and certain traits of temperament or personality were reviewed and analyzed, with focus on temporal relations (i.e., what comes first). It was consistently found that preschool children who stutter (as a group) do not show any tendencies toward elevated temperamental traits of shyness or social anxiety compared with children who do not stutter. Significant group differences were, however, repeatedly reported for traits associated with inattention and hyperactivity/impulsivity, which is likely to reflect a subgroup of children who stutter. Available data is not consistent with the proposal that the risk for persistent stuttering is increased by an emotionally reactive temperament in children who stutter. Speech-related social anxiety develops in many cases of stuttering, before adulthood. Reduction of social anxiety in adults who stutter does not in itself appear to result in significant improvement of speech fluency. Studies have not revealed any relation between the severity of the motor symptoms of stuttering and temperamental traits. It is proposed that situational variability of stuttering, related to social complexity, is an effect of interference from social cognition and not directly from the emotions of social anxiety. In summary, the studies in this review provide strong evidence that persons who stutter are not characterized by constitutional traits of anxiety or similar constructs. This paper provides a review and analysis of studies of anxiety, temperament, and personality, organized with the objective to clarify cause and effect relations. Readers will be able to (a) understand the importance of effect size and distribution of data for interpretation of group differences; (b) understand the role of temporal relations for interpretation of cause and effect; (c) discuss the results of studies of anxiety, temperament and personality in relation to stuttering; and (d) discuss situational variations of stuttering and the possible role of social cognition. Copyright © 2014 Elsevier Inc. All rights reserved.

The Experiences of Living with a Sibling Who Stutters: A Preliminary Study

ERIC Educational Resources Information Center

Beilby, Janet M.; Byrnes, Michelle L.; Young, Kate N.

2012-01-01

Stuttering impacts on the child in a variety of ways, notably in terms of communicative impairment and psychosocial impact. In addition, the stuttering disorder has a holistic impact, affecting those with whom the child who stutters lives. Within the family constellation, the closest person to the individual who stutters is often their sibling.…

Sentence Position and Syntactic Complexity of Stuttering in Early Childhood: A Longitudinal Study

ERIC Educational Resources Information Center

Buhr, Anthony; Zebrowski, Patricia

2009-01-01

The purpose of the present investigation was to assess longitudinal word- and sentence-level measures of stuttering in young children. Participants included 12 stuttering and non-stuttering children between 36 and 71 months of age at an initial visit who exhibited a range of stuttering rates. Parent-child spontaneous speech samples were obtained…

Anxiety in 11-Year-Old Children Who Stutter: Findings from a Prospective Longitudinal Community Sample

ERIC Educational Resources Information Center

Smith, Kylie A.; Iverach, Lisa; O'Brian, Susan; Mensah, Fiona; Kefalianos, Elaina; Hearne, Anna; Reilly, Sheena

2017-01-01

Purpose: To examine if a community sample of 11-year-old children with persistent stuttering have higher anxiety than children who have recovered from stuttering and nonstuttering controls. Method: Participants in a community cohort study were categorized into 3 groups: (a) those with persistent stuttering, (b) those with recovered stuttering, and…

Turkish Language Teachers' and Primary School Teachers' Attitudes toward Their Stuttering Students

ERIC Educational Resources Information Center

Educational Research and Reviews, 2013

2013-01-01

Stuttering is a speech defect which is seen in all countries. Stuttering affects fluency of speech due to some physiological, psychological and neurological causes. Protractions, clogs and repeats are seen in stuttering. Since it will probably result in social handicaps, stuttering should be considered as more important than other speech defects.…

The SpeechEasy device in stuttering and nonstuttering adults: fluency effects while speaking and reading.

PubMed

Foundas, Anne L; Mock, Jeffrey R; Corey, David M; Golob, Edward J; Conture, Edward G

2013-08-01

The SpeechEasy is an electronic device designed to alleviate stuttering by manipulating auditory feedback via time delays and frequency shifts. Device settings (control, default, custom), ear-placement (left, right), speaking task, and cognitive variables were examined in people who stutter (PWS) (n=14) compared to controls (n=10). Among the PWS there was a significantly greater reduction in stuttering (compared to baseline) with custom device settings compared to the non-altered feedback (control) condition. Stuttering was reduced the most during reading, followed by narrative and conversation. For the conversation task, stuttering was reduced more when the device was worn in the left ear. Those individuals with a more severe stuttering rate at baseline had a greater benefit from the use of the device compared to individuals with less severe stuttering. Our results support the view that overt stuttering is associated with defective speech-language monitoring that can be influenced by manipulating auditory feedback. Copyright © 2013 Elsevier Inc. All rights reserved.

Temperament and Early Stuttering Development: Cross-Sectional Findings From a Community Cohort.

PubMed

Kefalianos, Elaina; Onslow, Mark; Ukoumunne, Obioha C; Block, Susan; Reilly, Sheena

2017-04-14

The purpose of this study was to ascertain if there is an association between stuttering severity and behaviors and the expression of temperament characteristics, including precursors of anxiety. We studied temperament characteristics of a prospectively recruited community cohort of children who stutter (N = 173) at ages 3, 4, and 6 years using the Short Temperament Scale STS (Prior, Sanson, Smart & Oberklaid, 2000). Six of 131 statistical tests of association between stuttering severity and behaviors and temperament traits were statistically significant at the 5% level, which was no more than expected by chance alone. On the basis of parent responses to the STS, preschoolers who exhibited different levels of stuttering severity and behaviors did not generally express temperament traits differently from one another. Stuttering severity and stuttering behaviors were not associated with the precursors of anxiety. Overall, taking multiple tests into consideration, results show little evidence of association between stuttering severity and temperament up to 4 years of age or between stuttering behaviors and temperament up to 6 years of age.

Stuttering Min oscillations within E. coli bacteria: a stochastic polymerization model

NASA Astrophysics Data System (ADS)

Sengupta, Supratim; Derr, Julien; Sain, Anirban; Rutenberg, Andrew D.

2012-10-01

We have developed a 3D off-lattice stochastic polymerization model to study the subcellular oscillation of Min proteins in the bacteria Escherichia coli, and used it to investigate the experimental phenomenon of Min oscillation stuttering. Stuttering was affected by the rate of immediate rebinding of MinE released from depolymerizing filament tips (processivity), protection of depolymerizing filament tips from MinD binding and fragmentation of MinD filaments due to MinE. Processivity, protection and fragmentation each reduce stuttering, speed oscillations and MinD filament lengths. Neither processivity nor tip protection were, on their own, sufficient to produce fast stutter-free oscillations. While filament fragmentation could, on its own, lead to fast oscillations with infrequent stuttering; high levels of fragmentation degraded oscillations. The infrequent stuttering observed in standard Min oscillations is consistent with short filaments of MinD, while we expect that mutants that exhibit higher stuttering frequencies will exhibit longer MinD filaments. Increased stuttering rate may be a useful diagnostic to find observable MinD polymerization under experimental conditions.

Determining the effect of laser acupuncture in treating stutterers in comparison with speech therapy.

PubMed

Shafiei, Bijan; Heshmatipour, Mojtaba; Tavakol, Samira; Saghaei, Mahmud; Ghayumi, Zahra

2015-01-01

Investigation of strategies and methods of therapy in stutterers regarding to its characteristics, length of treatment, and relapse of stuttering is very important. Acupuncture has been introduced as a therapeutic method for the treatment of stuttering. The aim of the present research was the identification of the results of intervention of laser acupuncture in comparison with speech therapy in stutterers. This clinical - trial and case control research was conducted on 20 stutterers and 20 non-stutterers. In the present study, speech therapy and laser acupuncture were used on 10 persons who had developmental stuttering from childhood. The results were compared with the data of speech therapy and placebo laser in 10 control subjects. All of the subjects were followed up for 12 weeks after the intervention. The obtained data showed that accompanying of speech therapy with laser acupuncture resulted the increasing of maintenance and therapeutic effects of stuttering treatment and decreasing of relapsing. The speech rate and percent of stuttered words before and after the intervention in both groups (A and B) were decreased. Following the results after 12 weeks showed that the results were stable in laser group more than the other group and there was a significant difference between the two groups. The results of the present study showed that using of laser acupuncture therapy accompanying by speech therapy has many effects on the treatment of stuttering and prevents the relapsing of stuttering that is very common.

A One Year Prospective Study of Neurogenic Stuttering Following Stroke: Incidence and Co-Occurring Disorders

ERIC Educational Resources Information Center

Theys, C.; van Wieringen, A.; Sunaert, S.; Thijs, V.; De Nil, L. F.

2011-01-01

In this prospective study, data on incidence, stuttering characteristics, co-occurring speech disorders, and recovery of neurogenic stuttering in a large sample of stroke participants were assessed. Following stroke onset, 17 of 319 participants (5.3%; 95% CI, 3.2-8.3) met the criteria for neurogenic stuttering. Stuttering persisted in at least…

The Impact of Adolescent Stuttering on Educational and Employment Outcomes: Evidence from a Birth Cohort Study

ERIC Educational Resources Information Center

McAllister, Jan; Collier, Jacqueline; Shepstone, Lee

2012-01-01

Purpose: In interview and survey studies, people who stutter report the belief that stuttering has had a negative impact on their own education and employment. This population study sought objective evidence of such disadvantage for people who stutter as a group, compared with people who do not stutter. Method: A secondary analysis of a British…

Measurement of trained speech patterns in stuttering: interjudge and intrajudge agreement of experts by means of modified time-interval analysis.

PubMed

Alpermann, Anke; Huber, Walter; Natke, Ulrich; Willmes, Klaus

2010-09-01

Improved fluency after stuttering therapy is usually measured by the percentage of stuttered syllables. However, outcome studies rarely evaluate the use of trained speech patterns that speakers use to manage stuttering. This study investigated whether the modified time interval analysis can distinguish between trained speech patterns, fluent speech, and stuttered speech. Seventeen German experts on stuttering judged a speech sample on two occasions. Speakers of the sample were stuttering adults, who were not undergoing therapy, as well as participants in a fluency shaping and a stuttering modification therapy. Results showed satisfactory inter-judge and intra-judge agreement above 80%. Intervals with trained speech patterns were identified as consistently as stuttered and fluent intervals. We discuss limitations of the study, as well as implications of our findings for the development of training for identification of trained speech patterns and future outcome studies. The reader will be able to (a) explain different methods to measure the use of trained speech patterns, (b) evaluate whether German experts are able to discriminate intervals with trained speech patterns reliably from fluent and stuttered intervals and (c) describe how the measurement of trained speech patterns can contribute to outcome studies.

Decreased Cerebellar-Orbitofrontal Connectivity Correlates with Stuttering Severity: Whole-Brain Functional and Structural Connectivity Associations with Persistent Developmental Stuttering.

PubMed

Sitek, Kevin R; Cai, Shanqing; Beal, Deryk S; Perkell, Joseph S; Guenther, Frank H; Ghosh, Satrajit S

2016-01-01

Persistent developmental stuttering is characterized by speech production disfluency and affects 1% of adults. The degree of impairment varies widely across individuals and the neural mechanisms underlying the disorder and this variability remain poorly understood. Here we elucidate compensatory mechanisms related to this variability in impairment using whole-brain functional and white matter connectivity analyses in persistent developmental stuttering. We found that people who stutter had stronger functional connectivity between cerebellum and thalamus than people with fluent speech, while stutterers with the least severe symptoms had greater functional connectivity between left cerebellum and left orbitofrontal cortex (OFC). Additionally, people who stutter had decreased functional and white matter connectivity among the perisylvian auditory, motor, and speech planning regions compared to typical speakers, but greater functional connectivity between the right basal ganglia and bilateral temporal auditory regions. Structurally, disfluency ratings were negatively correlated with white matter connections to left perisylvian regions and to the brain stem. Overall, we found increased connectivity among subcortical and reward network structures in people who stutter compared to controls. These connections were negatively correlated with stuttering severity, suggesting the involvement of cerebellum and OFC may underlie successful compensatory mechanisms by more fluent stutterers.

The Efficacy of Stuttering Measurement Training: Evaluating Two Training Programs

PubMed Central

Bainbridge, Lauren A.; Stavros, Candace; Ebrahimian, Mineh; Wang, Yuedong

2015-01-01

Purpose Two stuttering measurement training programs currently used for training clinicians were evaluated for their efficacy in improving the accuracy of total stuttering event counting. Method Four groups, each with 12 randomly allocated participants, completed a pretest–posttest design training study. They were evaluated by their counts of stuttering events on eight 3-min audiovisual speech samples from adults and children who stutter. Stuttering judgment training involved use of either the Stuttering Measurement System (SMS), Stuttering Measurement Assessment and Training (SMAAT) programs, or no training. To test for the reliability of any training effect, SMS training was repeated with the 4th group. Results Both SMS-trained groups produced approximately 34% improvement, significantly better than no training or the SMAAT program. The SMAAT program produced a mixed result. Conclusions The SMS program was shown to produce a “medium” effect size improvement in the accuracy of stuttering event counts, and this improvement was almost perfectly replicated in a 2nd group. Half of the SMAAT judges produced a 36% improvement in accuracy, but the other half showed no improvement. Additional studies are needed to demonstrate the durability of the reported improvements, but these positive effects justify the importance of stuttering measurement training. PMID:25629956

The efficacy of stuttering measurement training: evaluating two training programs.

PubMed

Bainbridge, Lauren A; Stavros, Candace; Ebrahimian, Mineh; Wang, Yuedong; Ingham, Roger J

2015-04-01

Two stuttering measurement training programs currently used for training clinicians were evaluated for their efficacy in improving the accuracy of total stuttering event counting. Four groups, each with 12 randomly allocated participants, completed a pretest-posttest design training study. They were evaluated by their counts of stuttering events on eight 3-min audiovisual speech samples from adults and children who stutter. Stuttering judgment training involved use of either the Stuttering Measurement System (SMS), Stuttering Measurement Assessment and Training (SMAAT) programs, or no training. To test for the reliability of any training effect, SMS training was repeated with the 4th group. Both SMS-trained groups produced approximately 34% improvement, significantly better than no training or the SMAAT program. The SMAAT program produced a mixed result. The SMS program was shown to produce a "medium" effect size improvement in the accuracy of stuttering event counts, and this improvement was almost perfectly replicated in a 2nd group. Half of the SMAAT judges produced a 36% improvement in accuracy, but the other half showed no improvement. Additional studies are needed to demonstrate the durability of the reported improvements, but these positive effects justify the importance of stuttering measurement training.

Shifted dynamic interactions between subcortical nuclei and inferior frontal gyri during response preparation in persistent developmental stuttering.

PubMed

Metzger, F Luise; Auer, Tibor; Helms, Gunther; Paulus, Walter; Frahm, Jens; Sommer, Martin; Neef, Nicole E

2018-01-01

Persistent developmental stuttering is associated with basal ganglia dysfunction or dopamine dysregulation. Here, we studied whole-brain functional connectivity to test how basal ganglia structures coordinate and reorganize sensorimotor brain networks in stuttering. To this end, adults who stutter and fluent speakers (control participants) performed a response anticipation paradigm in the MRI scanner. The preparation of a manual Go/No-Go response reliably produced activity in the basal ganglia and thalamus and particularly in the substantia nigra. Strikingly, in adults who stutter, substantia nigra activity correlated positively with stuttering severity. Furthermore, functional connectivity analyses yielded altered task-related network formations in adults who stutter compared to fluent speakers. Specifically, in adults who stutter, the globus pallidus and the thalamus showed increased network synchronization with the inferior frontal gyrus. This implies dynamic shifts in the response preparation-related network organization through the basal ganglia in the context of a non-speech motor task in stuttering. Here we discuss current findings in the traditional framework of how D1 and D2 receptor activity shapes focused movement selection, thereby suggesting a disproportional involvement of the direct and the indirect pathway in stuttering.

A voxel-based morphometry (VBM) analysis of regional grey and white matter volume abnormalities within the speech production network of children who stutter.

PubMed

Beal, Deryk S; Gracco, Vincent L; Brettschneider, Jane; Kroll, Robert M; De Nil, Luc F

2013-09-01

It is well documented that neuroanatomical differences exist between adults who stutter and their fluently speaking peers. Specifically, adults who stutter have been found to have more grey matter volume (GMV) in speech relevant regions including inferior frontal gyrus, insula and superior temporal gyrus (Beal et al., 2007; Song et al., 2007). Despite stuttering having its onset in childhood only one study has investigated the neuroanatomical differences between children who do and do not stutter. Chang et al. (2008) reported children who stutter had less GMV in the bilateral inferior frontal gyri and middle temporal gyrus relative to fluently speaking children. Thus it appears that children who stutter present with unique neuroanatomical abnormalities as compared to those of adults who stutter. In order to better understand the neuroanatomical correlates of stuttering earlier in its development, near the time of onset, we used voxel-based morphometry to examine volumetric differences between 11 children who stutter and 11 fluent children. Children who stutter had less GMV in the bilateral inferior frontal gyri and left putamen but more GMV in right Rolandic operculum and superior temporal gyrus relative to fluent children. Children who stutter also had less white matter volume bilaterally in the forceps minor of the corpus callosum. We discuss our findings of widespread anatomic abnormalities throughout the cortical network for speech motor control within the context of the speech motor skill limitations identified in people who stutter (Namasivayam and van Lieshout, 2008; Smits-Bandstra et al., 2006). Copyright © 2012 Elsevier Ltd. All rights reserved.

Origins of the stuttering stereotype: stereotype formation through anchoring-adjustment.

PubMed

MacKinnon, Sean P; Hall, Shera; Macintyre, Peter D

2007-01-01

The stereotype of people who stutter is predominantly negative, holding that stutterers are excessively nervous, anxious, and reserved. The anchoring-adjustment hypothesis suggests that the stereotype of stuttering arises from a process of first anchoring the stereotype in personal feelings during times of normal speech disfluency, and then adjusting based on a rapid heuristic judgment. The current research sought to test this hypothesis, elaborating on previous research by [White, P. A., & Collins, S. R. (1984). Stereotype formation by inference: A possible explanation for the "stutterer" stereotype. Journal of Speech and Hearing Research, 27, 567-570]. Participants provided ratings of a hypothetical typical person who stutters, a person suffering from normal speech disfluency and a typical male on a 25-item semantic differential scale. Results showed a stereotype of people who stutter similar to that found in previous research. The pattern of results is consistent with the anchoring-adjustment hypothesis. Ratings of a male stutterer are very similar to a male experiencing temporary disfluency, both of which differ from ratings of a typical male. As expected, ratings of a stutterer show a small but statistically significant adjustment on several traits that makes the stereotype of stutterers less negative and less emotionally extreme than the temporarily disfluent male. Based on the results of this research, it appears that stereotype formation is a result of generalization and adjustment from personal experience during normal speech disfluency. The reader will be able to: (1) explain how the negative stereotype of people who stutter arises; (2) discuss the negative implications of stereotypes in the lives of people who stutter; and (3) summarize why the stereotype of people who stutter is so consistent and resistant to change.

Corpus callosum demyelination associated with acquired stuttering.

PubMed

Decker, Barbara McElwee; Guitar, Barry; Solomon, Andrew

2018-04-21

Compared with developmental stuttering, adult onset acquired stuttering is rare. However, several case reports describe acquired stuttering and an association with callosal pathology. Interestingly, these cases share a neuroanatomical localisation also demonstrated in developmental stuttering. We present a case of adult onset acquired stuttering associated with inflammatory demyelination within the corpus callosum. This patient's disfluency improved after the initiation of immunomodulatory therapy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

The speech naturalness of people who stutter speaking under delayed auditory feedback as perceived by different groups of listeners.

PubMed

Van Borsel, John; Eeckhout, Hannelore

2008-09-01

This study investigated listeners' perception of the speech naturalness of people who stutter (PWS) speaking under delayed auditory feedback (DAF) with particular attention for possible listener differences. Three panels of judges consisting of 14 stuttering individuals, 14 speech language pathologists, and 14 naive listeners rated the naturalness of speech samples of stuttering and non-stuttering individuals using a 9-point interval scale. Results clearly indicate that these three groups evaluate naturalness differently. Naive listeners appear to be more severe in their judgements than speech language pathologists and stuttering listeners, and speech language pathologists are apparently more severe than PWS. The three listener groups showed similar trends with respect to the relationship between speech naturalness and speech rate. Results of all three indicated that for PWS, the slower a speaker's rate was, the less natural speech was judged to sound. The three listener groups also showed similar trends with regard to naturalness of the stuttering versus the non-stuttering individuals. All three panels considered the speech of the non-stuttering participants more natural. The reader will be able to: (1) discuss the speech naturalness of people who stutter speaking under delayed auditory feedback, (2) discuss listener differences about the naturalness of people who stutter speaking under delayed auditory feedback, and (3) discuss the importance of speech rate for the naturalness of speech.

Phonological Neighborhood and Word Frequency Effects in the Stuttered Disfluencies of Children Who Stutter

PubMed Central

Anderson, Julie D.

2008-01-01

Purpose The purpose of this study was to examine (a) the role of neighborhood density (number of words that are phonologically similar to a target word) and frequency variables on the stuttering-like disfluencies of preschool children who stutter, and (b) whether these variables have an effect on the type of stuttering-like disfluency produced. Method A 500+ word speech sample was obtained from each participant (N = 15). Each stuttered word was randomly paired with the firstly produced word that closely matched it in grammatical class, familiarity, and number of syllables/phonemes. Frequency, neighborhood density, and neighborhood frequency values were obtained for the stuttered and fluent words from an online database. Results Findings revealed that stuttered words were lower in frequency and neighborhood frequency than fluent words. Words containing part-word repetitions and sound prolongations were also lower in frequency and/or neighborhood frequency than fluent words, but these frequency variables did not have an effect on single-syllable word repetitions. Neighborhood density failed to influence the susceptibility of words to stuttering, as well as the type of stuttering-like disfluency produced. Conclusions In general, findings suggest that neighborhood and frequency variables not only influence the fluency with which words are produced in speech, but also have an impact on the type of stuttering-like disfluency produced. PMID:17344561

Sociodynamic relationships between children who stutter and their non-stuttering classmates

PubMed Central

Davis, Stephen; Howell, Peter; Cooke, Frances

2007-01-01

Background: Previous research has indicated that children who stutter are more likely to be bullied and to hold a lower social position than their peers who do not stutter. However, the majority of this research has used data from respondents who were in the educational system more than 20 years ago. The current policy on integration of children with severe disabilities into mainstream education and the increased awareness of bullying in schools would indicate that attitudes toward children who stutter might have changed in the intervening period. Method: The study uses a sociometric scale (adapted from Coie, Dodge, & Coppotelli, 1982) to assess children who stutter in classroom groups with fluent peers. The peer relationships between 16 children who stutter and their classmates (403 children in total) were examined. Results: Children who stutter were rejected significantly more often than were their peers and were significantly less likely to be popular. When compared to children who do not stutter, the children who stutter were less likely to be nominated as ‘leaders’ and were more likely to be nominated to the ‘bullied’ and ‘seeks help’ categories. Conclusions: The changes in integration policy and the implementation of anti-bullying policies in many schools appear to have made little impact on the social status of children who stutter. The incidence of bullying and rejection reported in this study has implications for schools and clinicians. PMID:12405481

Effect of delayed auditory feedback on stuttering with and without central auditory processing disorders.

PubMed

Picoloto, Luana Altran; Cardoso, Ana Cláudia Vieira; Cerqueira, Amanda Venuti; Oliveira, Cristiane Moço Canhetti de

2017-12-07

To verify the effect of delayed auditory feedback on speech fluency of individuals who stutter with and without central auditory processing disorders. The participants were twenty individuals with stuttering from 7 to 17 years old and were divided into two groups: Stuttering Group with Auditory Processing Disorders (SGAPD): 10 individuals with central auditory processing disorders, and Stuttering Group (SG): 10 individuals without central auditory processing disorders. Procedures were: fluency assessment with non-altered auditory feedback (NAF) and delayed auditory feedback (DAF), assessment of the stuttering severity and central auditory processing (CAP). Phono Tools software was used to cause a delay of 100 milliseconds in the auditory feedback. The "Wilcoxon Signal Post" test was used in the intragroup analysis and "Mann-Whitney" test in the intergroup analysis. The DAF caused a statistically significant reduction in SG: in the frequency score of stuttering-like disfluencies in the analysis of the Stuttering Severity Instrument, in the amount of blocks and repetitions of monosyllabic words, and in the frequency of stuttering-like disfluencies of duration. Delayed auditory feedback did not cause statistically significant effects on SGAPD fluency, individuals with stuttering with auditory processing disorders. The effect of delayed auditory feedback in speech fluency of individuals who stutter was different in individuals of both groups, because there was an improvement in fluency only in individuals without auditory processing disorder.

Self-reported experience of bullying of students who stutter: relations with life satisfaction, life orientation, and self-esteem.

PubMed

Blood, Gordon W; Blood, Ingrid M; Tramontana, G Michael; Sylvia, Anna J; Boyle, Michael P; Motzko, Gina R

2011-10-01

Self-reported self-esteem, life orientation, satisfaction with life, and bullying were examined in relation to victimization experiences among 54 students who stuttered and 54 students who did not stutter. Those who stuttered reported greater, i.e., clinically significant, victimization (44.4%) than students who did not stutter (9.2%). Significant differences were found between means for self-esteem and life orientation, with students who stuttered reporting lower self-esteem and less optimistic life orientation than those who did not stutter. In both groups of students, high victimization scores had statistically significant negative correlations with optimistic life orientation, high self-esteem, and high satisfaction with life scores. Given the increased likelihood of students who stuttered being bullied, the negative relation of adjustment variables and bullying, and the potentially negative long-term effects of bullying, increased vigilance and early intervention are discussed.