Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista / Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder

Introducción La teoría de la mente (ToM) es la capacidad humana de percibir, interpretar y atribuir los estados mentales de las otras personas y la alteración de esta función cognitiva es un síntoma nuclear del trastorno del espectro autista (TEA). Hay otros trastornos del neurodesarrollo como el trastorno obsesivo-compulsivo de inicio en la infancia (TOC) y el síndrome de Tourette (ST), que pueden presentarse con disfunciones cognitivas, y en los que la ToM ha sido menos estudiada, especialmente en población juvenil. El objetivo de este estudio fue comparar la ToM avanzada entre grupos de jóvenes con diagnóstico de TOC, ST o TEA y un grupo de controles sanos. Métodos Se entrevistaron clínicamente a varones de entre 11 y 17 años con diagnóstico principal de TOC (n = 19), ST (n = 14), TEA (n = 18), y un grupo control de sujetos sanos (n = 20). Se les administró instrumentos de estimación de cociente intelectual, severidad de los síntomas psiquiátricos y las pruebas para evaluar la ToM: la tarea Historias de la vida cotidiana y el Test de la mirada. Resultados Los jóvenes con ST presentan dificultades similares para resolver tareas de ToM avanzada al nivel de los pacientes con TEA, a diferencia de los pacientes con TOC de inicio en la infancia que presentan resultados similares a los controles sanos. Conclusiones La ToM está alterada en otros trastornos del neurodesarrollo más allá del TEA, como en el ST. (AU)

Introduction Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. Methods Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the “Stories from everyday life” task and the “Reading the mind in the eyes” test). Results Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. Conclusions ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS. (AU)

Theory of mind in neurodevelopmental disorders: beyond autistic spectrum disorder.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n = 19), TS (n = 14), or ASD (n = 18), and a control group (n = 20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Trastornos de tics e impulso premonitorio: validación de la versión espñola de la «Escala para el Impulso Premonitorio al Tic» en niños y adolescentes / Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents

Introducción: La mayoría de personas con tics persistentes refiere notar una sensación des-agradable (impulso premonitorio) antes de sufrir un tic. En los últimos a ̃nos, el interés haciaestos fenómenos sensoriales ha aumentado debido al importante papel que tienen en la terapiade conducta. Sin embargo, los instrumentos para evaluarlos aún son escasos. Entre ellos, laEscala para el Impulso Premonitorio al Tic (Premonitory Urge for Tics Scale, PUTS) es el másutilizado. Métodos: Examinamos las propiedades psicométricas y la estructura factorial de la versiónespa ̃nola de la PUTS en una muestra de 72 ni ̃nos y adolescentes con síndrome de Tourette otrastorno de tics persistentes. Analizamos los datos para el total de la muestra y por grupos deedad (ni ̃nos hasta los 10 a ̃nos y mayores de 10 a ̃nos). Resultados: La PUTS obtuvo una buena consistencia interna y correlaciones moderadas entreítems de la escala (excepto en el ítem uno). Se encontró una buena validez divergente, unaadecuada fiabilidad test-retest y una estructura bifactorial (con una dimensión de fenómenosmentales relacionados con el trastorno obsesivo-compulsivo y otra sobre las cualidades y fre-cuencia de los impulsos premonitorios). Estos resultados se replicaron para ambos grupos deedad, excepto la validez divergente y la fiabilidad test-retest que fueron inferiores en el grupode menor edad.(AU)

Introduction: Most people with persistent tics report an unpleasant sensation (premonitoryurge) before the tic. In recent years, interest in these sensory phenomena has increased due totheir important role in behavioural therapy. However, instruments for assessing these sensationsremain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) isthe most widely used. Methods: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndromeor persistent tic disorders. We analysed data from the total sample and by age group (childrenup to 10 years old and children/adolescents over 10). Results: The PUTS presented good internal consistency and moderate correlations betweenitems on the scale (except for item one). Divergent validity was good, test-retest reliabilitywas adequate, and a bifactorial structure was identified (one dimension related to mentalphenomena reported in obsessive-compulsive disorder, and another related to the quality andfrequency of premonitory urges). These results were replicated in both age groups, with lowerdivergent validity and test-retest reliability in the younger group.Conclusions: The Spanish-language version of the PUTS is a valid, reliable tool for assessingpremonitory urges in both children and adolescents, especially after the age of 10.(AU)

Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents.

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item 1). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.

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.

Treatments for Tourette syndrome in children and young adults: a systematic review / Tratamento da síndrome de Tourette em crianças e jovens adultos: uma revisão sistemática

INTRODUCTION: Tourette's Syndrome (TS) is a neurodevelopmental disorder characterized by motor and / or vocal tics for more than 12 months. TS affects about 0.8% of pediatric patients and is associated with great functional impairment and psychological distress. The present study aims to list and compare the effectiveness of therapies used in children and young people with TS. METHODS: PubMed / MEDLINE, Cochrane Library, ScienceDirect, SciELO and Lilacs were used from September 2020 to April 2021 to search for randomized clinical trials with pharmacological, behavioral, physical or alternative interventions for tics in children and young people with ST. RESULTS: 13 clinical trials were included, of which six pharmacological, six behavioral and one of other conformation. The global score on the Yale Global Tic Severity Scale showed evidence in favor of Habit Reversal Training (HRT) and Comprehensive Behavioral Intervention for Tics (CBIT). Evidence from two studies suggests that antipsychotic medications improve tic scores. Evidence from other interventions has shown no conclusive benefit. CONCLUSIONS: The present study identified benefits with the use of antipsychotics. The study also found that HRT and CBIT showed improvement in reducing the severity of tics, in addition to not having any adverse effects. These therapies showed significant clinical improvement, but there is no comparison between the use of these isolated approaches in relation to their use associated with medications. In view of the different forms of therapy, further studies are needed to identify the effectiveness and the profile of adverse effects of these interventions.

INTRODUÇÃO: A Síndrome de Tourette (ST) é um distúrbio do neurodesenvolvimento caracterizado por tiques motores e/ou vocais por mais de 12 meses. A ST afeta cerca de 0,8% dos pacientes pediátricos e associa-se a grande comprometimento funcional e sofrimento psíquico. O presente estudo tem como objetivo listar e comparar a eficácia das terapias utilizadas em crianças e jovens com ST. MÉTODOS: PubMed/MEDLINE, Cochrane Library, ScienceDirect, SciELO e Lilacs foram usados desde setembro de 2020 até abril de 2021 para a busca de ensaios clínicos randomizados com intervenções farmacológicas, comportamentais, físicas ou alternativas para tiques em crianças e jovens com ST. RESULTADOS: 13 ensaios clínicos foram incluídos, dos quais seis farmacológicos, seis comportamentais e um de outra conformação. A pontuação global na Yale Global Tic Severity Scale, apresentou evidências a favor do Treinamento de Reversão de Hábito (TRH) e Intervenção Comportamental Abrangente para Tiques (ICAT). As evidências de dois estudos sugerem que medicamentos antipsicóticos melhoram os escores de tiques. Evidências de outras intervenções não mostraram nenhum benefício conclusivo. CONCLUSÕES: O presente estudo identificou benefícios com o uso do antipsicóticos. O estudo também identificou que a TRH e a ICAT apresentaram melhora na redução da gravidade dos tiques, além de não apresentarem efeitos adversos. Essas terapias mostraram importante melhora clínica, mas não há comparação entre o uso dessas abordagens isoladas em relação ao seu uso associado com medicamentos. Diante das diferentes formas de terapia, mais estudos são necessários para identificar a eficácia e o perfil de efeitos adversos dessas intervenções.

Síndrome de Tourette e sensibilidade celíaca ao glúten: um relato de caso / Tourette syndrome and celiac gluten sensitivity: a case report

Introdução. A síndrome de Tourette (ST) é um transtorno de tique primário, caracterizado por tiques motores e verbais crônicos, com importante comprometimento psicossocial que acarreta alterações significativas na vida dos seus portadores. Sua etiologia permanece desconhecida e há poucas informações sobre o papel da intolerância alimentar associada à sua presença. Objetivo. Relatar um caso de Síndrome de Tourette como sintoma neurológico e exclusivo da Doença Celíaca. Resultados. Antitransglutaminase IgA, antiendomísio IgA e IgG, assim como antigliadina, foram detectados. O HLA-DQ8 foi positivo. Ela foi diagnosticada com sensibilidade celíaca ao glúten e uma dieta sem glúten foi iniciada. Uma grande melhora clínica foi observada em poucos meses. Conclusão. Este relato clínico abre uma nova possibilidade da existência de uma relação causal entre a presença de Síndrome de Tourette em pacientes com sensibilidade ao glúten e, por consequência, a conveniência de iniciar uma dieta livre de glúten nesses pacientes. Novos estudos serão necessários para apoiar esta observação.

Theory of mind in neurodevelopmental disorders: Beyond autistic spectrum disorder. / Teoría de la mente en trastornos del neurodesarrollo: más allá del trastorno del espectro autista.

INTRODUCTION: Theory of mind (ToM) is the human ability to perceive, interpret, and attribute the mental states of other people, and the alteration of this cognitive function is a core symptom of autistic spectrum disorder (ASD). In such other neurodevelopmental disorders as childhood-onset obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) that can present with cognitive dysfunctions, ToM has been less extensively studied, especially in the young population. The aim of the study was to compare advanced ToM between groups of young people diagnosed with OCD, TS, or ASD and a control group. METHODS: Clinical interviews were conducted with male patients aged between 11 and 17 years with a main diagnosis of OCD (n=19), TS (n=14), or ASD (n=18), and a control group (n=20). We administered instruments for estimating intelligence quotient and severity of psychiatric symptoms, and tasks to evaluate ToM (the "Stories from everyday life" task and the "Reading the mind in the eyes" test). RESULTS: Young people with TS and with ASD present similar difficulties in solving advanced ToM tasks, whereas patients with childhood-onset OCD present similar results to controls. CONCLUSIONS: ToM is altered in other neurodevelopmental disorders beyond ASD, such as TS.

Propuesta terapéutica de las manifestaciones orales del síndrome de tourette. A propósito de un caso / Therapeutic Proposal of the Oral Manifestations of the Tourette Syndrome. A Case Report

RESUMEN El síndrome de Tourette (ST) es un trastorno neurológico-conductual crónico que comienza en la infancia y la adolescencia. Su característica principal es la emisión de múltiples tics motores y fónicos de distinto tipo y complejidad. Se asocian a vocalizaciones involuntarias (ecolalia, coprolalia). A menudo empeoran cuando la persona está excitada o padece de ansiedad y se atenúan durante la realización de actividades calmadas o que requieren de concentración. Su tratamiento consiste en el uso de medicamentos que pueden causar efectos adversos o la intervención global de comportamiento para tics (Comprehensive Behavioral Intervention for Tics, CBIT), que es un tratamiento conductual no farmacológico diseñado para enseñar a los pacientes y sus familias un conjunto específico de habilidades para reducir la frecuencia, la intensidad y el impacto general de los tics motores y vocales. Se reporta caso clínico de paciente de 13 años de edad que asistió a la Facultad de Odontología de la Universidad de Cartagena por presentar úlcera dolorosa en cavidad bucal. Como terapéutica se decidió utilizar la placa de protección mucosa (PPM) en el maxilar, y se observó una disminución del tamaño de la úlcera y en el control a los 45 días se observó la cicatrización completa de la lesión. Se complementó el tratamiento bucal con la remisión a tratamiento psicológico de soporte.

ABSTRACT Tourette Syndrome (TS) is a chronic neurological-behavioral disorder that begins in childhood and adolescence. Its main characteristic is the emission of multiple motor and phonic tics of different types and complexity. They are associated with involuntary vocalizations (echolalia, coprolalia). They often worsen when the person is excited or has anxiety and becomes less alert during calm or concentration-intensive activities. Its treatment consists in the use of drugs that can cause adverse effects or the global behavioral intervention for tics (Comprehensive Behavioral Intervention for Tics, CBIT) which is a non-pharmacological behavioral treatment designed to teach patients and their families a specific set of skills to reduce the frequency, intensity and overall impact of motor and vocal tics. We report a case of a 13-year-old patient who attended the University of Cartagena School of Dentistry due to a painful ulcer in the oral cavity. As a therapy, it was decided to use the mucosal protective plate (PPM) in the maxilla, observing a decrease in the size of the ulcer, and in the control at 45 days the complete healing of the lesion was observed. The oral treatment was complemented with the referral to psychological support treatment.

Management of Parkinson's disease and other movement disorders in women of childbearing age: Part 2. / Manejo de la enfermedad de Parkinson y otros trastornos del movimiento en mujeres en edad fértil: parte 2.

INTRODUCTION: Many diseases associated with hyperkinetic movement disorders manifest in women of childbearing age. It is important to understand the risks of these diseases during pregnancy, and the potential risks of treatment for the fetus. OBJECTIVES: This study aims to define the clinical characteristics and the factors affecting the lives of women of childbearing age with dystonia, chorea, Tourette syndrome, tremor, and restless legs syndrome, and to establish guidelines for management of pregnancy and breastfeeding in these patients. RESULTS: This consensus document was developed through an exhaustive literature search and a discussion of the content by a group of movement disorder experts from the Spanish Society of Neurology. CONCLUSIONS: We must evaluate the risks and benefits of treatment in all women with hyperkinetic movement disorders, whether pre-existing or with onset during pregnancy, and aim to reduce effective doses as much as possible or to administer drugs only when necessary. In hereditary diseases, families should be offered genetic counselling. It is important to recognise movement disorders triggered during pregnancy, such as certain types of chorea and restless legs syndrome.

Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents. / Trastornos de tics e impulso premonitorio: validación de la versión española de la «Escala para el Impulso Premonitorio al Tic¼ en niños y adolescentes.

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item one). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.

Síndrome de Tourette: Tratamiento farmacológico en pacientes pediátricos, una puesta al día / Tourette's Syndrome: An Update on Pharmacological Treatment in Paediatric Patients

El síndrome de Tourette (ST) se caracteriza por tics motores y fónicos, destacando las dificultades de su manejo farmacológico. El objetivo de este artículo es describir los resultados de una revisión bibliográfica de las alternativas de tratamiento farmacológico existentes en la actualidad para el ST pediátrico. Metodología: Se realizó una búsqueda bibliográfica en base de datos PubMed utilizando los términos meSH "Tourette syndrome", "Tics", "Therapeutics" y "Children" entre los años 1950 y 2020, tras priorización y exclusión se obtuvo un total de 64 artículos. Resultados: Los artículos muestran 21 alternativas terapéuticas, que se detallan en dos niveles según eficacia y efectos adversos. Conclusiones: Existen múltiples alternativas farmacológicas, algunas con efectos adversos que pueden llegar a determinar la imposibilidad de continuar el tratamiento. Esta sigue siendo un área abierta de investigación en la búsqueda de alternativas que disminuyan estos efectos.

Abstract. Introduction: Tourette syndrome (TS) is characterized by motor and phonic tics, and the difficulties of its pharmacological management. The objective of this article is to describe the results of a bibliographic review of the pharmacological treatment alternatives that currently exist for pediatric TS. Methods: A bibliographic search was carried out in the PubMed database using the meSH terms "Tourette syndrome", "Tics", "Therapeutics" and "Children" between 1950 and 2020, after prioritization and exclusion, a total of 64 articles were selected. Results: The articles show 21 therapeutic alternatives, which are categorized into two levels according to efficacy and adverse effects. Conclusions: There are multiple pharmacological alternatives, some with adverse effects that may make it impossible to continue treatment. This continues to be an open area of investigation in the search for alternatives that minimize these side effects.

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.

Síndrome De Tourette Familiar: Reporte De Caso Y Revisión De La Literatura / Familial Tourette Syndrome: Case Report And Review Of Literature

Resumen El síndrome de Tourette es un trastorno neuropsiquiátrico de inicio en la infancia caracterizado por múltiples tics motores y vocales de al menos un año de duración. Se desconoce su etiología exacta, pero se han involucrado las vías neuronales fronto-subcorticales e interacciones complejas entre factores sociales, ambientales y genéticos. Estudios genéticos han reportado loci de susceptibilidad en genes implicados en conexión sináptica, sin embargo, hace falta evidencia en muestras de mayor tamaño. Este reporte de caso describe un joven de 14 años con historia personal y familiar de síndrome de Tourette, sugiriendo un mecanismo de herencia autosómico dominante.

Abstract Tourette syndrome is a childhood neuropsychiatric disorder characterized by multiple motor and vocal tics of at least one year. Its exact etiology is unknown, but fronto-subcortical neural pathways and complex interactions between social, environmental and genetic factors have been involved. Genetic studies have reported susceptibility loci in genes involved in synaptic connection, however, evidence is needed in larger samples. This case report describes a 14-year-old boy with a personal and family history of Tourette's syndrome, suggesting an autosomal dominant mechanism of inheritance.

Estimulación cerebral profunda del globo pálido interno en pacientes con síndrome de Gilles de la Tourette / Deep brain stimulation of internal globus pallidus in Tourette syndrome

RESUMEN INTRODUCCIÓN: El síndrome de Gilles de la Tourette es un trastorno neuropsiquiátrico caracterizado por tics y comorbilidades que comienza en la infancia. La estimulación cerebral profunda (ECP), aceptada como tratamiento para otros trastornos, se reserva para casos severos y pacientes con farmacorresistencia, aunque sigue permaneciendo en terreno experimental para esta patología. El objetivo de este trabajo es analizar la bibliografía científica actual acerca de la ECP del globo pálido interno en la reducción de tics y comorbilidades asociadas a este Síndrome. MATERIAL Y METODOS: Se ha realizado una revisión sistemática de varios artículos científicos consultando (entre febrero y marzo de 2017) las bases de datos MedLine, PubMed, Scopus, Web of Science y Cochrane. Se ha limitado la búsqueda a todos aquellos artículos publicados entre 2012 y 2017, escritos en inglés y realizados en humanos; se excluyeron revisiones, cartas al editor o aquellos que no se centrasen en el tema de estudio. RESULTADOS: En general, los resultados obtenidos muestran mejoras significativas en casi la totalidad de pacientes, pero, la carencia de estudios controlados aleatorizados con muestras mayores, la falta de resultados fiables, la ausencia de uniformidad en los protocolos y el desconocimiento de la fisiopatología y del área ideal a estimular, hacen que la aplicación de esta técnica no goce de evidencia científica suficiente para ser aceptada como parte del tratamiento de este síndrome hipercinético.

SUMMARY INTRODUCTION: Gilles de la Tourette syndrome is a neuropsyquiatric disorder characterized by tics and comorbidities which starts during the infancy. Deep brain Stimulation, accepted as treatment for other diseases, it is reserved for severe cases and pharmacoresistant patients, even though it still remains on the experimental field for this pathology. The main aim of this review is to analyse the current scientific bibliography about Deep brain Stimulation of the Globus Pallidus Internus on the reduction of tics and associated comorbidities from Gilles de la Tourette Syndrome. MATERIAL AND METHODS: A systematic review of several scientific articles was done checking (February-March, 2017) MedLine, PubMed, Scopus, Web of Science and Cochrane databases. We have restricted the search to all those articles published from 2012 to 2017, written in English and done with humans, excluding those which were reviews, letters to the editor or not focussed on the subject of the study. RESULTS: In general, the outcomes shows significant improvements in almost the totality of patients but the lack of randomised controlled trials with higher samples, the shortage of reliable results and the lack of awareness of the physiopathology and the ideal target to stimulate, don't allow this technique to enjoy scientific evidence enough to be accepted as part of the treatment for this hyperkinetic disorder.

Did Mozart suffer from Gilles de la Tourette syndrome? / ¿Mozart padeció síndrome de Gilles de la Tourette?

Abstract 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?

Resumen Por años, la vida privada de los grandes hombres y mujeres de la historia, escritores, pintores y músicos, ha sido objeto de gran interés. Un claro ejemplo de esto es el gran escrutinio que se ha hecho sobre el aclamado compositor Wolfgang Amadeus Mozart. Lo que posiblemente comenzó como simple curiosidad rápidamente se convirtió en una investigación exhaustiva, pues en los detalles de su vida (su infancia, relaciones, mañas y manierimos) podría estar la evidencia de su legendario talento. Usualmente, son los historiadores, antropólogos y filósofos los que se sumergen en las páginas de viejos y ajados libros tratando de encontrar respuestas y pistas; sin embargo, desde algún tiempo, los médicos han reclamado su propio papel en la resolución de estos interrogantes. Este artículo explora la hipótesis sobre el posible diagnóstico de síndrome de Gilles de la Tourette para Mozart. ¿Todas las peculiaridades y rarezas del genio podrían estar causadas por un trastorno neurológico o se trataba solamente de un hombre brillante y excéntrico?

[Did Mozart Suffer from Gilles de la Tourette Syndrome?] / ¿Mozart padeció síndrome de Gilles de la Tourette?

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?.

Atualizações neurocientíficas na Síndrome de Tourette: uma revisão integrativa / Neuroscientific updates in Tourette Syndrome: an integrative review

O presente estudo apresenta uma revisão integrativa sobre a Síndrome de Tourette (ST) que é pouco conhecida por muitos profissionais da saúde. Foi realizada uma revisão integrativa acerca das evidências clínicas e científicas sobre a ST, a fim de esclarecer e nortear a prática clínica direcionada aos portadores dessa doença emdiferentes áreas da Saúde. Foi realizada uma busca de artigos científicos em cinco bases de dados nas línguas portuguesa, inglesa e espanhola, seguindo uma análise criteriosa dos artigos selecionados. Todos os artigos selecionados foram publicadosna língua inglesa evidenciando o reduzido número de trabalhos sobre a relação ST e intervenção terapêutica nas demais línguas. Os mesmos artigos englobam os aspectos mais atuais da ST, abordando desde a neurofisiologia da síndrome até intervenções como a terapia comportamental e a estimulação cerebral. Foi possível concluir que a ciência caminha cada vez mais em direção a um conhecimentoaprofundado sobre a ST, principalmente no que se refere às novas formas deintervenção(AU)

This study presents an integrative review of Tourette Syndrome (TS) which little is known by many health professionals. An integrative review of the clinical and scientific evidences about the TS was performed in order to clarify and guide clinical practice directed to patients with this disease in different health areas. A search ofscientific articles was conducted in five databases in Portuguese, English andSpanish languages, following a careful analysis of the selected articles. All articles were published in English showing the small number of studies on the TS and therapeutic intervention ratio in other languages. The same items include the most current aspects of TS, addressing from the neurophysiology of the syndrome tointerventions such as behavioral therapy and brain stimulation. It was possible to conclude that science moves increasingly toward a thorough knowledge of the TS especially with regard to new forms of intervention(au)

Atualizações neurocientíficas na Síndrome de Tourette: uma revisão integrativa / Neuroscientific updates in Tourette Syndrome: an integrative review

O presente estudo apresenta uma revisão integrativa sobre a Síndrome de Tourette (ST) que é pouco conhecida por muitos profissionais da saúde. Foi realizada uma revisão integrativa acerca das evidências clínicas e científicas sobre a ST, a fim de esclarecer e nortear a prática clínica direcionada aos portadores dessa doença em diferentes áreas da Saúde. Foi realizada uma busca de artigos científicos em cinco bases de dados nas línguas portuguesa, inglesa e espanhola, seguindo uma análise criteriosa dos artigos selecionados. Todos os artigos selecionados foram publicados na língua inglesa evidenciando o reduzido número de trabalhos sobre a relação ST e intervenção terapêutica nas demais línguas. Os mesmos artigos englobam os aspectos mais atuais da ST, abordando desde a neurofisiologia da síndrome até intervenções como a terapia comportamental e a estimulação cerebral. Foi possível concluir que a ciência caminha cada vez mais em direção a um conhecimento aprofundado sobre a ST, principalmente no que se refere às novas formas de intervenção

This study presents an integrative review of Tourette Syndrome (TS) which little is known by many health professionals. An integrative review of the clinical and scientific evidences about the TS was performed in order to clarify and guide clinical practice directed to patients with this disease in different health areas. A search ofscientific articles was conducted in five databases in Portuguese, English andSpanish languages, following a careful analysis of the selected articles. All articles were published in English showing the small number of studies on the TS and therapeutic intervention ratio in other languages. The same items include the most current aspects of TS, addressing from the neurophysiology of the syndrome tointerventions such as behavioral therapy and brain stimulation. It was possible to conclude that science moves increasingly toward a thorough knowledge of the TS especially with regard to new forms of intervention

All that glitters is not gold: When motor and vocal tics in a child do not match Tourette syndrome: A case report / Nem tudo que reluz é ouro: quando tiques motores e vocais em uma criança não combinam com Síndrome de Tourette: relato de caso

ABSTRACT The atypical form of Pantothenate Kinase-Associated Neurodegeneration (PKAN) tends to present at around the age of 14 years, has a heterogeneous presentation with extrapyramidal symptoms, and approximately one third of patients exhibit psychiatric problems. This paper reports the case of a patient with apparent typical symptoms of Tourette syndrome. However, the severity and poor response to treatment led to further investigation and the diagnosis of PKAN as a secondary cause of Tourettism was reached.

RESUMO A forma atípica de PKAN costuma se apresentar por volta dos 14 anos de idade, possui uma sintomatologia heterogênea, com sintomas extrapiramidais e, em cerca de um terço dos pacientes, também com a manifestação de sintomas psiquiátricos. O presente artigo relata o caso de uma paciente com sintomatologia típica da Síndrome de Tourette à primeira vista. Entretanto, a gravidade do quadro e pouca resposta ao tratamento levaram a uma maior investigação e ao diagnóstico de PKAN como causa secundária do Tourettismo.