Clinical phenomenology and phenotype variability in Tourette syndrome

Tourette syndrome (TS) is a neurodevelopmental disorder with a rich phenomenology that includes simple and complex motor and vocal tics as well as multiple comorbidities. From a nosological perspective, it is evident that a continuum of tic severity exists, of which TS is the most severe and rare form, while transient tics and chronic tics represent milder forms. From a psychopathology perspective, TS is often concurrent with obsessive–compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD); these disorders appear to define TS “types” TS only, TS+OCD, and TS+OCD+ADHD. Additional clinical aspects of TS include more frequent than expected occurrence of anger episodes, anxiety disorders, mood disorders, impulse control disorders, learning disorders, and pervasive developmental disorders. Data reduction techniques have been used more recently to define a “simple” and “complex” tic symptom clusters or factors. Phenomenologic approaches can be used in TS to guide future pathophysiologic research.     

Association between Tourette syndrome and comorbidities in Japan

The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive–compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects in the study were 88 Japanese TS patients (67 males and 21 females; mean age: 15.2 years) who were treated by 31 clinicians including psychiatrists and pediatricians. Data on tic symptoms, comorbidities and severity were scrutinized. OCS were present in 42.0% of the subjects, while HD accounted for 28.4%. In the TS + OCS and/or HD group, coprophenomana, impulsiveness/aggression, school refusal, self-injurious behaviors (SIB), and clumsiness were significantly more frequent than in the TS-only group. Also, tic symptoms and impairment during the worst period was significantly severer in the TS + OCS and/or HD than in the TS-only group. When the age-matched TS + all OCS group (i.e., the young TS + OCS and TS + OCS + HD group) was compared with the TS-only group, it was found that the rates of impulsiveness/aggression, school refusal and SIB were significantly higher and the degree of global severity was significantly more intense in the young TS + all OCS group than in the TS-only group. The impact to clinical characteristics of TS from OCS was suggested to be slightly greater than that from HD. There was little ethnic difference in TS pathogenesis in terms of the impact of comorbidities. Further investigation is required to gain deeper insights into the relationships between TS, OCD or OCS and HD.     

Tourette syndrome and HLA

Five kindreds with multiple individuals manifesting Tourette syndrome (TS) or related abnormal movements were evaluated for linkage between TS and HLA-A, B, C and DR antigens. Families were selected to have a constellation of affected individuals which gave the appearance of transmission of a major susceptibility gene. All kindreds had at least two clearly affected first or second degree relatives. Although developmental neurobehavioral disorders are candidates for showing a relationship to specific tissue antigens, we found no evidence for a close linkage between a gene locus determining susceptibility to TS and the HLA loci.     

Clinical correlates of quality of life in Tourette syndrome

Tourette syndrome (TS) is a neurodevelopmental disorder involving tics, which is frequently accompanied by comorbid obsessive compulsive (OCD) or attention deficit hyperactivity disorder (ADHD). Individuals with TS often report poor quality of life (QoL) in comparison with the general population. This study investigated the clinical correlates of QoL in young people with TS using a self‐report multidimensional QoL measure, and a range of clinical scales used to assess tic severity and the symptoms of anxiety, depression, OCD, ADHD and other emotional and behavioral symptoms. Symptoms of depression, OCD, and ADHD appeared to have a widespread negative impact on QoL, but poorer QoL was not associated with increased tic severity. Greater emotional and behavioral difficulties, including symptoms of OCD, were among the best predictors of poor QoL in young people with TS. © 2010 Movement Disorder Society     

Tourette syndrome: Evolving concepts

Tourette syndrome is a common childhood‐onset neurobehavioral disorder characterized by multiple motor and phonic tics affecting boys more frequently than girls. Premonitory sensory urges prior to tic execution are common, and this phenomenon helps to distinguish tics from other hyperkinetic movement disorders. Tourette syndrome is commonly associated with attention deficit hyperactivity disorder, obsessive‐compulsive disorder, learning difficulties, and impulse control disorder. The pathophysiology of this complex disorder is not well understood. Involvement of basal ganglia–related circuits and dopaminergic system has been suggested by various imaging and postmortem studies. Although it is considered a genetic disorder, possibly modified by environmental factors, an intense search has thus far failed to find causative genes. Symptomatic treatment of tics chiefly utilizes various alpha adrenergic agonists, antidopaminergic drugs, topiramate, botulinum toxin, and deep brain stimulation. Habit reversal therapy and other behavioral approaches may be a reasonable option for some cases. Improved understanding of Tourette syndrome should lead to better symptomatic and more effective pathogenesis‐targeted therapies. © 2011 Movement Disorder Society     

难治性抽动秽语综合征的临床特点

目的探讨难治性Tourette综合征(Tourettesyndrom,TS)的临床特征。方法采用自制TS一般情况调查表、YGTSS(耶鲁综合抽动严重程度量表)、CBCL(Achenbach儿童行为量表)、WISC—CR(韦氏儿童智力量表中国修订版)对32例难治性TS(难治性组)患者和随机抽取的31例普通TS患者(普通组)分别进行测试和对照分析。结果(1)难治性TS患者在发病年龄、病前诱因、病程等方面与普通TS患者之间存在显著差异(P<0.05,P<0.01)。(2)难治性组CBCL总分显著高于普通组(P<0.01);难治性组19例6～11岁男性与普通组21例6～11岁男性CBCL测验比较,前者交往不良、强迫行为等6个行为问题因子得分显著高于后者(P<0.05,P<0.01),其CBCL总分也显著高于后者(P<0.01)。(3)在智力测验中,难治性组不仅其VIQ、PIQ、FIQ均显著低于普通组(P<0.05,P<0.01),而且在10项分测验中,算术分测验、理解分测验和译码分测验量表分均显著低于普通组。结论难治性TS具有自己的临床特征。     

Clinical course of Tourette syndrome

Objective

Tourette syndrome (TS) is a childhood-onset neuropsychiatric disorder characterized by multiple motor and vocal tics lasting at least a year in duration. Children with TS often experience comorbid conditions such as obsessive-compulsive disorder (OCD) and attention-deficit disorder. The goal of this article was to review the long-term clinical course of tics and comorbid conditions in children with TS.

Method

We conducted a traditional literature search to locate relevant articles regarding long-term outcome and prognosis in TS and tic disorders.

Results

Tics typically have an onset between the ages of 4 and 6 years and reach their worst-ever severity between the ages of 10 and 12 years. On average, tic severity declines during adolescence. By early adulthood, roughly three-quarters of children with TS will have greatly diminished tic symptoms and over one-third will be tic free. Comorbid conditions, such as OCD and other anxiety and depressive disorders, are more common during the adolescence and early adulthood of individuals with TS than in the general population.

Conclusion

Although tics are the sine qua non of TS, they are often not the most enduring or impairing symptoms in children with TS. Measures used to enhance self-esteem, such as encouraging strong friendships and the exploration of interests, are crucial to ensuring positive adulthood outcome in TS.     

Association of the candidate gene SLC1A1 and obsessive–compulsive disorder in Han ChinesePopulation

This case–control study enrolled 578 obsessive–compulsive disorder (OCD) patients and 649 controls and genotyped rs10491734, rs2228622, rs301430 and rs301443 to replicate association of the SLC1A1 gene with OCD in ethnic Han Chinese. The G-A-C-G and G-G-T-C haplotypes were found to be significantly associated with OCD in overall samples, male samples and female samples.     

Schizotypal personality traits in Gilles de la Tourette syndrome

OBJECTIVES: Gilles de la Tourette syndrome (GTS) is a chronic tic disorder associated with comorbid psychopathology, including obsessionality, affective instability and attention-deficit hyperactivity disorder. Evidence linking GTS with schizophrenia-like symptoms is limited and equivocal, despite a common putative substrate involving dopaminergic dysfunction within frontostriatal circuits. The aim of this study was to quantify the prevalence of schizotypal traits in GTS and to detail the relationship between schizotypy and comorbid psychopathology. MATERIALS AND METHODS: A total of 102 subjects with GTS were evaluated using the Schizotypal Personality Questionnaire and standardized neurological and psychiatric rating scales. The predictive interrelation between schizotypy, tic-related symptoms and psychiatric comorbidities was investigated using correlation and multiple regression analyses. RESULTS: In our clinical population, 15% of the subjects were diagnosed with the schizotypal personality disorder according to the DSM-IV criteria. The strongest predictors of schizotypy were obsessionality and anxiety ratings. The presence of multiple psychiatric comorbidities correlated positively with schizotypy scores. CONCLUSIONS: Schizotypal traits are relatively common in patients with GTS, and reflect the presence of comorbid psychopathology, related to the anxiety spectrum. In particular, our preliminary results are consistent with a shared neurochemical substrate for the mechanisms underpinning tic expression, obsessionality and specific schizotypal traits.     

Tourette syndrome: Issues in diagnosis

Information was accumulated by self-report questionnaire from 462 Canadian Tourette syndrome (TS) patients. The mean age of onset of the syndrome was 7.4 years, while the mean age of medical diagnosis was 15.2 years, suggesting that the mean lag between onset of symptoms and diagnosis was 7.8 years. Seventy-three percent of patients reported initial misdiagnosis by physicians and only 33% of the patients reported receiving their first information about TS from physicians. Respondents indicated that they were typically diagnosed as having Attention Deficit Disorder, Hyperactivity, or Minimal Brain Dysfunction prior to the establishment of the TS diagnosis. Factors involved in the delay in physician diagnosis of the syndrome, as well as the association between TS and other neuropsychiatric disorders, are also discussed.     

Clinical characteristics of Tourette syndrome

Abstract The aim of the present study was to examine the clinical characteristics of Tourette syndrome (TS) in terms of symptomatology, outcome and organic and genetic factors, and to compare these with results of previous studies on TS in Western countries and in Japan, on the basis of precise information taken from a large number of TS patients under psychiatric treatment in Japan. There was a total of 64 TS patients (55 males and nine females) selected from those who visited our outpatient clinic from 1974 to 1993 and were found to meet the criteria for Tourette's disorder of DSM-III-R. The mean patient age at entry to the present study was 17.4 years (SD:7.2). All data were collected through a systematic chart review of subjects, including data on tic symptoms and the course of their development; complications and developmental histories; family histories; medical and psychological examinations; treatment; severity and outcome. A check of the data showed that the mean age at onset was 6.9 years (SD:2.7). An analysis of the progression of the symptoms revealed that 'generalized tics' afflicting the entire body were found in 64.1% of subjects and coprolalia was found in 50%. The main complications were obsessive-compulsive symptoms (OCS) in 62.5% of patients and attention deficit hyperactivity disorder (ADHD) in 17.2%. Of their parents, 7.0% had tic disorders except TS and 1.6% had TS. Contrary to results from previous studies of TS, our study revealed that at least the incidence of coprolalia in TS patients in Japan is not lower than in Western countries. However, the frequency of familial cases seemed to be lower than previously reported for Western patients. Outcome was fairly related with 'generalized tics,' OCS, aggressiveness and ADHD.     

Obsessive-compulsive personality traits: how are they related to OCD severity?

Previous research has demonstrated that comorbid obsessive–compulsive personality disorder (OCPD) in patients with obsessive–compulsive disorder (OCD) is associated with greater overall OCD severity, functional impairment, and poorer treatment outcomes ( [Coles et al., 2008] , [0145] and [0225] ). However, research has only examined the effects of OCPD categorically and has yet to thoroughly examine the impact of individual OCPD characteristics dimensionally. Thus, the present study sought to investigate the relationships between various OCPD-related dimensions (e.g., perfectionism, rigidity) and OCD symptomology and severity. The study recruited a sample of OCD patients (n = 51) in the OCD units of two residential treatment facilities. Findings yielded significant relationships between OCD severity and the following OCPD dimensions: flexibility, doubts about actions (a dimension of perfectionism), and hoarding. Interpretations of these results and the implications for diagnosis, prognosis, and treatment outcome are discussed. Furthermore, the current study provides insight into a unique perspective which leaves room for more symptom overlap and variability between OCD and OCPD.     

Differences in clinical characteristics between Tourette syndrome patients with and without 'generalized tics' or coprolalia

Abstract  The purpose of this study is to examine whether there are differences in clinical characteristics between Tourette syndrome (TS) patients with and without 'generalized tics' (GT) which involve the entire body, and/or coprolalia. Subjects were 64 patients (55 males and 9 females, mean age, 17.4 ± 7.2 years) who visited Tokyo University's outpatient clinic of neuropsychiatry from 1974 to 1993 and who met criteria for Tourette's disorder of DSM-III-R. Data on clinical characteristics, including tic symptoms and courses of their development, complications and developmental histories, treatment and severity, were collected by systematic chart review of all subjects. Tourette syndrome patients with 'generalized tics' tended to show multiple complex vocal tics more frequently than TS patients without GT. Tourette syndrome patients with coprolalia tended to show significantly higher rates of copropraxia, echolalia, and 'cleaning/washing' compulsion than did the TS patients without coprolalia. Tourette syndrome patients with both GT and coprolalia were classified as the severest group in terms of tic symptoms and social impairment. Tourette syndrome patients who had neither of these morbidities were classified into the mildest group in all aspects. Generalized tics and coprolalia seemed to indicate the severest end of the TS spectrum and seemed to be related with a need of intensive treatment.     

The international prevalence, epidemiology, and clinical phenomenology of Tourette syndrome: A cross-cultural perspective

The overall international prevalence of Tourette syndrome (TS) is 1% in the majority of cultures of the world. Both TS and tics are certainly more obvious and may be more common in younger people. Moreover, TS is seen less frequently in some cultures. However, in all cultures where it has been reported, the phenomenology is similar, highlighting the biological underpinnings of the disorder. This article reviews the international prevalence, epidemiology, and clinical phenomenology of TS, from a cross-cultural perspective.     

Tourette syndrome and neuropsychological performance

This study examined performance on a battery of neuropsychological tests in a sample of 28 patients with Tourette's syndrome (TS). Test scores were converted to age-corrected T-scores to control for the effect of age on test performance. The frequency of abnormal test performances was variable, but more frequent on motor and sensory tasks. Symptom severity as measured by the Tourette Syndrome Global Scale was inversely related to neuropsychological performance. In general, neuropsychological performance was mildly below average. The pattern of performance was similar to previous studies of TS patients.     

Cortical and brainstem plasticity in Tourette syndrome and obsessive‐compulsive disorder

Gilles de la Tourette syndrome is characterized by motor/vocal tics commonly associated with psychiatric disorders, including obsessive‐compulsive disorder. We investigated primary motor cortex and brainstem plasticity in Tourette patients, exposed and unexposed to chronic drug treatment, with and without psychiatric disturbances. We also investigated primary motor cortex and brainstem plasticity in obsessive‐compulsive disorder. We studied 20 Tourette patients with and without psychiatric disturbances, 15 with obsessive‐compulsive disorder, and 20 healthy subjects. All groups included drug‐naïve patients. We conditioned the left primary motor cortex with intermittent/continuous theta‐burst stimulation and recorded motor evoked potentials. We conditioned the supraorbital nerve with facilitatory/inhibitory high‐frequency stimulation and recorded the blink reflex late response area. In healthy subjects, intermittent theta‐burst increased and continuous theta‐burst stimulation decreased motor evoked potentials. Differently, intermittent theta‐burst failed to increase and continuous theta‐burst stimulation failed to decrease motor evoked potentials in Tourette patients, with and without psychiatric disturbances. In obsessive‐compulsive disorder, intermittent/continuous theta‐burst stimulation elicited normal responses. In healthy subjects and in subjects with obsessive‐compulsive disorder, the blink reflex late response area increased after facilitatory high‐frequency and decreased after inhibitory high‐frequency stimulation. Conversely, in Tourette patients, with and without psychiatric disturbances, facilitatory/inhibitory high‐frequency stimulation left the blink reflex late response area unchanged. Theta‐burst and high‐frequency stimulation elicited similar responses in drug‐naïve and chronically treated patients. Tourette patients have reduced plasticity regardless of psychiatric disturbances. These findings suggest that abnormal plasticity contributes to the pathophysiology of Gilles de la Tourette syndrome. However, obsessive‐compulsive disorder patients have normal cortical and brainstem plasticity. © 2014 International Parkinson and Movement Disorder Society     

Clinical features and associated psychopathology in a Tourette syndrome cohort

OBJECTIVE: This study explored in detail the association between tic symptomatology, related clinical variables, and psychopathology in 91 consecutive adult TS subjects from a UK clinic. METHODS: Consecutive patients from a specialized Tourette clinic who met the DSM-III criteria for TS were evaluated using standardized rating scales for Tourette syndrome and other psychopathology. RESULTS: The male female ratio in our cohort was 1.8:1. Significantly more males had an earlier age at onset of TS and history of birth complications. Obsessive compulsive behaviors in the patient was positively correlated with presence of attention deficit hyperactivity disorder and self-injurious behaviors. With regard to adult psychopathology, principal components factor analysis yielded two factors, 'obsessionality' and 'anxiety/depression', which accounted for 72% of the variance. CONCLUSION: Our results support the high occurrence of anxiety, depression and obsessionality in adult TS subjects.     

Clinical phenomenology of episodic rage in children with Tourette syndrome

OBJECTIVE: Episodic rage of unknown etiology causes significant morbidity in children with Tourette's syndrome (TS). Using modified Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) criteria for intermittent explosive disorder (IED), we developed a screen and symptom questionnaire to explore rage attack phenomenology and to preliminarily investigate whether symptom clusters can identify clinical subgroups of TS children with rage attacks. METHODS: 48 children with TS between ages 7 and 17 years consecutively presenting with rage attacks completed the Rage Attacks Screen and Questionnaire. Data was subjected to factor analysis. Cluster analytic procedures were used to identify clinical subgroups. RESULTS: Final cluster solution revealed four homogeneous subgroups of TS children with rage who were differentiated by predominant clinical characteristics: specific urge resolution, environmentally secure reactivity, nonspecific urge resolution or labile nonresolving. CONCLUSION: Episodic rage in TS has stereotypic features, but diverse and complex etiologies. Identifying particular symptom clusters may facilitate improved treatment strategies.     

Tourette syndrome in Japan: A nationwide questionnaire survey of psychiatrists and pediatricians

In order to shed light on the clinical picture of patients with Tourette syndrome (TS) treated at medical institutions in Japan, a nationwide survey covering both pediatric patients and psychiatric patients was conducted. We mailed 316 questionnaires on experience in treating TS cases and the patients' present conditions etc. to specialists such as psychiatrists and pediatricians. A total of 164 responded. The survey found 154 TS patients being treated at the time of survey, 45 (29.2%) had obsessive–compulsive symptoms (OCS), and 10 (6.5%) had family histories of TS. It was suggested that TS is often associated with OCS and that familial cases of TS are slightly less common in Japan than they are in the USA. Of the 116 respondents who described their experiences, 85 (73.2%) said that they had treated one or more patients displaying the symptoms of frequent coprolalia, and 42 (36.2%) said that they had treated one or more patients suffering from developmental disorders. Based on these findings, we speculated that the rate of coprolalia in Japan is a little higher than the previously reported 4% and that TS is often associated with developmental disorders.