Tic Status in Tourette Syndrome Due to Depletion of the Deep Brain Stimulation Battery.

In this case report, a patient with Tourette syndrome was admitted to the emergency department with nonrhythmic, continuous, generalized hyperkinetic movements associated with muscle contractions in the trunk, neck, and upper and lower limbs caused by depletion of the deep brain stimulation battery.

Tourette's Syndrome cervical dystonia induced occipital neuralgia remedied by peripheral nerve stimulation: A case report / Síndrome de Tourette, distonia cervical induzida por neuralgia occipital remediada por estimulação nervosa periférica: relato de caso

BACKGROUND: Dystonia is uncommon in Tourette's syndrome, and occipital neuralgia secondary to Tourette's dystonia is more rare, affecting quality of life. Occipital peripheral nerve stimulation (PNS) is an excellent alternative by being adjustable and minimally invasive. Our case demonstrates occipital PNS as an effective option for refractory Tourette's dystonia. CASE PRESENTATION: A thirty-four-year-old male with poorly controlled Tourette's cervical dystonia presented with severe occipital neuralgia. Various medications were prescribed including propranolol and amitriptyline, and bilateral third-occipital nerve rhizotomies and occipital nerve blocks were trialed. Distal nerve blocks at the occipital protuberance were most effective. Therefore, an occipital PNS trial was done, and a PNS was implanted with no complications. Upon follow-up, the patient reported drastic pain reduction. CONCLUSION: Our case illustrates neuromodulation benefits for a rare presentation of refractory occipital neuralgia secondary to Tourette's-related dystonia. Occipital PNS should be considered for refractory cases because it is safe, easy to implant, and effective.

FUNDAMENTO: A distonia é incomum na síndrome de Tourette, e a neuralgia occipital secundária à distonia de Tourette é mais rara, afetando a qualidade de vida. A estimulação do nervo periférico occipital (SNP) é uma excelente alternativa por ser ajustável e minimamente invasiva. Nosso caso demonstra o SNP occipital como uma opção eficaz para a distonia de Tourette refratária. APRESENTAÇÃO DO CASO: Um homem de 34 anos com distonia cervical de Tourette mal controlada apresentou neuralgia occipital grave. Vários medicamentos foram prescritos, incluindo propranolol e amitriptilina, e foram testadas rizotomias bilaterais do nervo terceiro-occipital e bloqueios do nervo occipital. Os bloqueios dos nervos distais na protuberância occipital foram mais eficazes. Portanto, foi feito um ensaio de PNS occipital e um PNS foi implantado sem complicações. Após o acompanhamento, o paciente relatou redução drástica da dor. CONCLUSÃO: Nosso caso ilustra os benefícios da neuromodulação para uma apresentação rara de neuralgia occipital refratária secundária à distonia relacionada a Tourette. O PNS occipital deve ser considerado para casos refratários porque é seguro, fácil de implantar e eficaz.

Beyond tics: movement disorders in patients with Tourette syndrome.

BACKGROUND: Tics are the hallmark of Tourette syndrome (TS). However, TS patients may have a particular vulnerability to develop other movement disorders (MDs), such as dystonia, chorea, stereotypy, and other hyperkinetic disorders that may be wrongly attributed to tics. MATERIALS AND METHODS: We studied a cohort of 201 patients with motor and phonic tics associated with TS to determine if they have additional, co-existent, MDs. RESULTS: There were 67 (33.3%) patients with comorbid non-tic MDs. Phenomenology-wise, piano-playing movements resembling chorea or myoclonus, were the most common non-tic movement, observed in 11% of cases, followed by stereotypies (8.0%), tremor, dystonia and parkinsonism, 5.0% each. Drug-induced was the most common etiology (6.0%), followed by functional movement disorders (5.0%) and tardive phenomena (5.0%). No clear etiology was identified in most patients. Piano-playing movements, were associated with a younger age at onset (P = 0.004) and younger age at presentation (P < 0.001). Patients with drug-induced movements and tardive phenomena had a lower frequency of craniofacial tics. FMDs, and idiopathic MDS showed no specific associations with TS. Tic severity was not a predictor of any co-existent MD. CONCLUSION: About a third of patients with TS present with comorbid MDs which should be differentiated and distinguished from tics as their etiopathogenesis and treatment may be different.

[A pediatric cohort with Gilles de la Tourette syndrome]. / Descripción de una cohorte pediátrica con síndrome de Gilles de la Tourette.

INTRODUCTION: Tourette Syndrome (TS) is a common disorder with chronic motor and phonic tics, associated with neuropsychiatric comorbidities. OBJECTIVE: To characterize clinical-demographic variables, comor bidities, and management in a pediatric cohort with TS and compare them according to sex. PATIENTS AND METHOD: A retrospective cohort of patients < 18 years old with TS followed up between 2000 and 2018 was evaluated. Clinical records were reviewed obtaining variables of age, sex, reason for consul tation, age of onset, type and complexity of tics, follow-up time, family history, obsessive behaviors, neuropsychiatric and psychopathological comorbidity, neurological disorders, and pediatric mor bidity. Studies and treatments performed, and management used were also recorded. RESULTS: 126 patients were included, aged between 4-18 years, 103 males (sex F:M ratio = 4.5:1), with a follow-up of 4.8 ± 1.9 years. The mean age of tic onset and TS diagnosis was 6.5 ± 2.2 and 9.4 ± 2.7 years, res pectively, and a diagnostic latency of 2.8 ± 2.2 years. The first consultation in the total of girls was due to tics, in contrast to the boys of whom 14.6% (n = 15) consulted due to comorbidities. There was 38.9% of tics and 8,7% of TS. Neuropsychiatric comorbidities were frequent, recorded in 69.8%, with Attention Deficit Disorder (43.6%) and Obsessive-Compulsive Disorder (20.6%) standing out.110 cases (87.3%), received pharmacological therapy and 54.4% required three or more drugs at some point in their evolution. Only in 16 cases (12.7%), no pharmacological therapy was required, only psychoeducation in 7 (5.6%) cases, and behavioral therapy in 9 cases (7.1%). CONCLUSIONS: The cli nical characteristics of our children with TS are similar to international descriptions, highlighting that in the group of boys, the first consultation could be due to comorbidity, recognizing later the presence of tics. Although psychoeducation and behavioral therapies are recommended as first-line management, most of the patients in this group required pharmacological therapy.

Caracterización cognitiva del trastorno de Tourette con comorbilidad TDAH: un estudio de caso / Cognitive characterization of Tourette disorder with ADHD comorbidity: a case study

El trastorno de Tourette (TT) es un trastorno del neurodesarrollo que aparece en la primera infancia caracterizado por la presencia de tics fónicos y motores que dificultan la socialización y el proceso de aprendizaje escolar. El TT posee una variada comorbilidad que incluye el trastorno por déficit de atención con hiperactividad (TDAH), el trastorno obsesivo compulsivo (TOC), y dificultades de aprendizaje y del comportamiento. Presentamos el caso de un adolescente de 13 años diagnosticado con TT y con TDAH a los 6 y 10 años respectivamente. El paciente ha tenido una escolarización dificultosa y se encuentra con tratamiento médico de clozapina, aripiprazol, haloperidol y litio. Se aplica una batería neuropsicológica para evaluar la atención e inhibición, organización visuoespacial, memoria de trabajo, flexibilidad cognitiva, memoria verbal y memoria no-verbal, con el propósito de describir su perfil cognitivo de funciones ejecutivas y memoria. El estudio reveló que la atención está deteriorada pero que la inhibición se encuentra preservada; esto confirma el diagnóstico de TDAH y establece el subtipo de inatento para el caso en estudio. Las demás funciones ejecutivas evaluadas se encuentran severamente descendidas, situación que es coincidente con el perfil desarrollado por otros autores para el TT con comorbilidad TDAH. Sin embargo, no es claro si la disfuncionalidad ejecutiva se debe al TDAH que presenta, o a factores sociales y culturales derivados de las dificultades de escolarización causadas por el TT.

Tourette's disorder (TD) is a neurodevelopmental disorder that appears in early childhood characterized by the presence of phonic and motor tics that hinder socialization and the school learning process. TD has a varied comorbidity that includes attention deficit hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), learning and behavioral difficulties. We present the case of a 13-year-old adolescent diagnosed with TD and with ADHD at 6 and 10 years old respectively. The patient has had a difficult schooling and is under medical treatment of clozapine, aripiprazole, haloperidol and lithium. A neuropsychological battery is applied to evaluate the attention and inhibition, visuospatial organization, working memory, cognitive flexibility, verbal memory and non-verbal memory, with the purpose of describing its cognitive profile of executive functions and memory. The study revealed that the attention is impaired but that the inhibition is preserved; This confirms the diagnosis of ADHD and establishes the inattentive subtype for the case under study. The other executive functions evaluated are severely descended, a situation that coincides with the profile developed by other authors for TD with comorbid ADHD. However, it is not clear if the executive dysfunctionality is due to the ADHD it presents, or to social and cultural factors derived from the difficulties of schooling caused by the TD.

Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome.

Severe recurrent proximal muscle weakness without neuroleptic malignant syndrome secondary to antidopaminergic medication has rarely been reported. We report a 29-year-old man with history of obsessive compulsive disorder and Tourette syndrome who presented with 2 months of worsening dyspnea 3 weeks after starting ziprasidone 40 mg daily that required mechanical ventilation. A year before, after an increased risperidone dose from 0.5 to 1 mg daily, he had developed proximal muscle weakness that spontaneously improved 2 months after discontinuation of risperidone. On this admission, his creatine kinase (CK) was 3318 units/L, and ziprasidone was discontinued. He fully recovered 2 months after discontinuation of ziprasidone, and his CK was 62 units/L. Genetic testing for limb-girdle muscular dystrophy was negative. This case highlights the importance of evaluating CK level in patients taking antidopaminergic medication with any suggestion of muscle weakness to prevent potentially life-threatening complication.

Clinical correlates of parenting stress in children with Tourette syndrome and in typically developing children.

OBJECTIVE: To determine the impact of tic severity in children with Tourette syndrome on parenting stress and the impact of comorbid attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) symptomatology on parenting stress in both children with Tourette syndrome and typically developing children. STUDY DESIGN: Children with diagnosed Tourette syndrome (n=74) and tic-free typically developing control subjects (n=48) were enrolled in a cross-sectional study. RESULTS: Parenting stress was greater in the group with Tourette syndrome than the typically developing group. Increased levels of parenting stress were related to increased ADHD symptomatology in both children with Tourette syndrome and typically developing children. Symptomatology of OCD was correlated with parenting stress in Tourette syndrome. Parenting stress was independent of tic severity in patients with Tourette syndrome. CONCLUSIONS: For parents of children with Tourette syndrome, parenting stress appears to be related to the child's ADHD and OCD comorbidity and not to the severity of the child's tic. Subthreshold ADHD symptomatology also appears to be related to parenting stress in parents of typically developing children. These findings demonstrate that ADHD symptomatology impacts parental stress both in children with and without a chronic tic disorder.

Phenomenology and natural history of Tourette syndrome: brief summary or research / Fenomenologia e história natural da síndrome de Tourette: breve resumo da pesquisa

The phenomenology of Tourette syndrome is complex. Although overt motor and vocal tics are the defining features of Tourette syndrome, many individuals report experiencing sensory "urges," which are often difficult to describe. The natural history of this condition is also variable, with some individuals experiencing a marked reduction in tics by the end of the second decade of life while others go on to have a lifelong condition. The aim of this thesis was three-fold: (1) to develop a valid and reliable clinical rating instrument; (2) to investigate the sensory phenomena associated with Tourette syndrome; and (3) to document the course of tic severity over the course of the first two decades of life. Each of these three studies involved groups of patients with Tourette syndrome or a chronic tic disorder and each of these studies has been published in a peer-reviewed journal. The Yale Global Tic Severity Scale (YGTSS) has excellent psychometric properties that have been independently replicated. It has also emerged as the most widely used clinician-rated tic severity scale in randomized clinical trials around the world. Sensory phenomena, particularly premonitory urges, are commonly reported among individuals with Tourette syndrome by the age of 10 years. There is considerable overlap with the sensory phenomena described by individuals with Obsessive-Compulsive Disorder. Tics usually have their onset in the first decade of life. They then follow a waxing and waning course and a changing repertoire of tics. As documented in the third study, for a majority of patients the period of worst tic severity usually falls between the ages of 7 and 15 years of age, after which tic severity gradually declines. This falloff in tic symptoms is consistent with available epidemiological data that indicate a much lower prevalence of Tourette syndrome among adults than children. This decline in tic severity has been confirmed in subsequent studies...

A fenomenologia da síndrome de Tourette (ST) é complexa. Apesar de tiques motores e vocais serem as características definidoras da síndrome, muitas pessoas relatam ter urgências premonitórias (fenômenos sensoriais) de difícil descrição. A história natural da ST também é variável, com alguns indivíduos que experimentam uma redução acentuada nos tiques até o final da segunda década de vida, enquanto outros permanecem com sintomas ao longo de toda a vida adulta. Os objetivos principais desta tese são três: (1) desenvolver um instrumento de avaliação clínica com boa validade e confiabilidade para ST; (2) investigar os fenômenos sensoriais (FS) associados a ST; e (3) documentar o curso da gravidade dos tiques durante as duas primeiras décadas de vida. Para atingir esses objetivos incluíram-se grupos de pacientes clinicamente bem caracterizados e de artigos científicos publicados em periódicos internacionais de alto impacto. A Escala de Gravidade Global de tiques de Yale (YGTSS) apresentou excelentes propriedades psicométricas, o que foi replicado em estudos independentes. Também emergiu como a escala de gravidade mais utilizada em ensaios clínicos randomizados para ST em todo o mundo. Os FS, particularmente urgências premonitórias, são comumente relatados entre os indivíduos com ST com a partir da idade de 10 anos. Há uma sobreposição considerável com os FS descritos por indivíduos com Transtorno Obsessivo- Compulsivo (TOC). Os tiques costumam ter seu início na primeira década de vida e, então, seguem um curso flutuante com mudança do seu repertório. Conforme documentado no terceiro estudo, para a maioria dos pacientes, o período de pior gravidade dos tiques ocorre geralmente entre 7 e 15 anos de idade, após o qual a gravidade declina gradualmente. Esta queda dos sintomas de tiques é consistente com os dados epidemiológicos disponíveis que indicam uma prevalência muito menor de ST entre adultos do que crianças. Em resumo, há um esforço para incremento...

Headache in children with Tourette syndrome.

OBJECTIVE: The authors analyzed the frequency of occurrence of headaches in children and adolescents with Tourette syndrome (TS) to address their possible inclusion as a comorbidity. STUDY DESIGN: Using a prospective questionnaire, administered directly, we interviewed a total sample size of 109 patients with TS ≤ 21 years of age. The questionnaires were then analyzed according to the International Headache Society's diagnostic criteria. RESULTS: We found headaches to be present in 55% of the patients, with the 2 most common headache types being migraine headaches and tension-type headaches. The rate of migraine headache within the TS group was found to be 4 times greater than that of the general pediatric population, as reported in the literature. In addition, the rate of tension-type headache was found to be more than 5 times greater than that of the general pediatric population. CONCLUSIONS: Overall, the high rates of migraine and tension-type headache within this population support the proposition that headaches are a comorbidity of TS.

Sensory phenomena associated with repetitive behaviors in obsessive-compulsive disorder: an exploratory study of 1001 patients.

A substantial number of patients with obsessive-compulsive disorder (OCD) report compulsions that are preceded not by obsessions but by subjective experiences known as sensory phenomena. This study aimed to investigate the frequency, severity, and age at onset of sensory phenomena in OCD, as well as to compare OCD patients with and without sensory phenomena in terms of clinical characteristics. We assessed 1,001 consecutive OCD patients, using instruments designed to evaluate the frequency/severity of OC symptoms, tics, anxiety, depression, level of insight and presence/severity of sensory phenomena. All together, 651 (65.0%) subjects reported at least one type of sensory phenomena preceding the repetitive behaviors. Considering the sensory phenomena subtypes, 371 (57.0%) patients had musculoskeletal sensations, 519 (79.7%) had externally triggered "just-right" perceptions, 176 (27.0%) presented internally triggered "just right," 144 (22.1%) had an "energy release," and 240 (36.9%) patients had an "urge only" phenomenon. Sensory phenomena were described as being as more severe than were obsessions by 102(15.7%) patients. Logistic regression analysis showed that the following characteristics were associated with the presence of sensory phenomena: higher frequency and greater severity of the symmetry/ordering/arranging and contamination/washing symptom dimensions; comorbid Tourette syndrome, and a family history of tic disorders. These data suggest that sensory phenomena constitute a poorly understood psychopathological aspect of OCD that merits further investigation.

Secondary tics and tourettism.

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 +/- 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.

Secondary tics and tourettism

Tiques motores e fônicos são usualmente sintomas da síndrome de Tourette idiopática; entretanto, existem muitas causas orgânicas conhecidas para os tiques. Analisando os prontuários de 155 pacientes (101 homens/54 mulheres; idade média 40,5 ± 20,2 anos) com tiques e transtornos comórbidos encontramos que: 14 (9,0%) pacientes tinham tiques secundários a lesão dos gânglios da base, decorrentes de trauma craniano (N = 4; 2,5%), acidente vascular cerebral (N = 2; 1,2%), encefalite (N = 3; 1,9%) ou outras causas. Além disso, certas drogas, toxinas e complicações pós-infecciosas puderam ser etiologicamente associadas aos tiques. Raramente, lesões periféricas estiveram associadas a transtornos do movimento, incluindo tiques (N = 1; 0,6%). Transtornos globais do desenvolvimento, incluindo síndrome de Asperger (N = 13; 8,3%), retardo mental (N = 4; 2,5%), autismo (N = 3; 1,9%) e síndrome de Savant (N = 1; 0,6%), também podem estar associados a tiques, como observado em 21 dos 155 pacientes (13,5%). Doenças genéticas e cromossômicas, como a síndrome de Down (N = 5; 3,2%), a neuroacantocitose (N = 2; 1,2%) e a doença de Huntington (N = 1; 0,6%) estavam associadas a tiques em 16 pacientes (10,3%). Também examinamos a comorbidade de tiques com outros transtornos de movimento como distonia (N = 31; 20,0%) e tremor essencial (N = 17; 10,9%). Dezeseis (10,3%) pacientes apresentaram tiques psicogênicos e um (0,6%), tiques psicogênicos e distonia; ao contrário, síndrome de Tourette precedeu o início de distonia psicogênica (N = 1; 0,6%) e tremor psicogênico (N = 1; 0,6%) em dois pacientes. Finalmente, 12 (7,7%) pacientes tinham tiques associados a transtornos neurológicos não relacionados ao movimento, como encefalopatia estática (N = 2; 1,2%) e convulsões (N = 3; 1,9%). Para entender a fisiopatologia dos tiques e da síndrome de Tourette é importante reconhecer que esses podem ser causados por ou associados a outros transtornos.