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Objective: To evaluate the comparative efficacy of pharmacological interventions for children and adolescents with a dual diagnosis of persistent tic disorders or Tourette disorder and attention-deficit/hyperactivity disorder (TD + ADHD). Methods: We searched CENTRAL, Embase, PubMed, PsycInfo, Web of Sciences, ClinicalTrials.gov, and WHO ICTRP up to September 2023 to identify double-blinded randomized controlled trials (RCTs) assessing pharmacological interventions for children and adolescents with TD + ADHD. Outcomes were change in ADHD symptoms (primary) and tics (secondary) severity. Standardized mean difference (SMD) was calculated and pooled in random-effects network meta-analysis. The Confidence in Network Meta-Analysis framework was adopted to determine certainty of evidence. Results: We included 8 RCTs involving 575 participants. Network meta-analyses demonstrated that α2 agonists (SMD, 95% confidence interval [CI] ADHD: -0.72 [-1.13 to -0.31]; TD: -0.70 [-0.96 to -0.45]) and stimulants + α2 agonists (ADHD: -0.84 [-1.54 to -0.13]; TD: -0.60 [-1.04 to -0.17]) were more efficacious than placebo for ADHD symptoms and tics severity. Stimulants alone were more efficacious than placebo for ADHD symptoms severity only, but they did not worsen tics (ADHD: -0.54 [-1.05 to -0.03]; TD: -0.22 [-0.49 to 0.05]). There were no significant differences between any pairs of medications that were found efficacious against placebo for ADHD symptoms or tics severity. Certainty in the evidence varied from low to very low. Conclusions: Stimulants are efficacious for ADHD symptoms severity and do not increase tics severity in TD + ADHD. α2 agonists are efficacious for both ADHD symptoms and tics severity in TD + ADHD. These findings should inform guidelines and help guide shared decision-making to choose a medication for children with TD + ADHD.
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Abstract Objective: In this article, the author aims to discuss and review the relationship between gut microbiota and Tourette syndrome, and whether the change in gut microbiota can affect the severity of Tourette syndrome. Sources: Literature from PubMed, Google Scholar, and China National Knowledge Infrastructure was mainly reviewed. Both original studies and review articles were discussed. The articles were required to be published as of May 2022. Summary of the findings: Current studies on the gut microbiome have found that the gut microbiome and brain seem to interact. It is named the brain-gut-axis. The relationship between the brain-gut axis and neurological and psychiatric disorders has been a topic of intense interest. Tourette syndrome is a chronic neurological disease that seriously affects the quality of life of children, and there appears to be an increase in Ruminococcaceae and Bacteroides in the gut of patients with Tourette syndrome. After clinical observation and animal experiments, there appear to be particular gut microbiota changes in Tourette syndrome. It provides a new possible idea for the treatment of Tourette syndrome. Probiotics and fecal microbial transplantation have been tried to treat Tourette syndrome, especially Tourette syndrome which is not sensitive to drugs, and some results have been achieved. Conclusions: The relationship between gut microbiota and Tourette syndrome and how to alleviate Tourette syndrome by improving gut microbiota are new topics, more in-depth and larger sample size research is still needed.
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OBJECTIVE: In this article, the author aims to discuss and review the relationship between gut microbiota and Tourette syndrome, and whether the change in gut microbiota can affect the severity of Tourette syndrome. SOURCES: Literature from PubMed, Google Scholar, and China National Knowledge Infrastructure was mainly reviewed. Both original studies and review articles were discussed. The articles were required to be published as of May 2022. SUMMARY OF THE FINDINGS: Current studies on the gut microbiome have found that the gut microbiome and brain seem to interact. It is named the brain-gut-axis. The relationship between the brain-gut axis and neurological and psychiatric disorders has been a topic of intense interest. Tourette syndrome is a chronic neurological disease that seriously affects the quality of life of children, and there appears to be an increase in Ruminococcaceae and Bacteroides in the gut of patients with Tourette syndrome. After clinical observation and animal experiments, there appear to be particular gut microbiota changes in Tourette syndrome. It provides a new possible idea for the treatment of Tourette syndrome. Probiotics and fecal microbial transplantation have been tried to treat Tourette syndrome, especially Tourette syndrome which is not sensitive to drugs, and some results have been achieved. CONCLUSIONS: The relationship between gut microbiota and Tourette syndrome and how to alleviate Tourette syndrome by improving gut microbiota are new topics, more in-depth and larger sample size research is still needed.
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Microbioma Gastrointestinal , Probióticos , Síndrome de Tourette , Animales , Humanos , Calidad de Vida , Encéfalo , Probióticos/uso terapéuticoRESUMEN
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.
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Humanos , Masculino , Femenino , Pacientes/clasificación , Síndrome de Tourette/complicaciones , Nervios Periféricos/anomalíasAsunto(s)
Trastorno por Déficit de Atención con Hiperactividad , COVID-19 , Trastorno Obsesivo Compulsivo , Síndrome de Tourette , Humanos , Síndrome de Tourette/complicaciones , Síndrome de Tourette/epidemiología , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Brasil/epidemiología , Pandemias , Portugal/epidemiología , Trastorno Obsesivo Compulsivo/complicaciones , Trastorno Obsesivo Compulsivo/epidemiologíaRESUMEN
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.
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Humanos , Niño , Adolescente , Trastornos de Tic/terapia , Terapia Conductista , Síndrome de Tourette/diagnóstico , Síndrome de Tourette/tratamiento farmacológico , Placebos , Antipsicóticos/farmacología , Resultado del Tratamiento , Aripiprazol/farmacologíaRESUMEN
INTRODUCTION: Pediatric obsessive-compulsive disorder (OCD) and autism spectrum disorder (ASD) have been associated with respiratory tract infections and alterations in the intestinal microbiome, respectively. Pediatric Acute-onset Neuropsychiatric Syndromes (PANS) refers to the sudden onset of neuropsychiatric symptoms that are triggered by several infectious and non-infectious factors. Studies indicate that inflammation plays an important etiological role in PANS, as well as in ASD associated with gut dysbiosis. AREAS COVERED: The present review provides an overview of clinical studies of PANS and ASD associated with gastrointestinal symptoms, as well as existing strategies for investigating these syndromes in rodent models. The authors highlight similarities between these syndromes that may provide clues to common etiological mechanisms. EXPERT OPINION: Although data from animal models are consistent with an important role for anti-neuronal antibodies in PANS triggered by GAS infection, we lack models for identifying pathophysiological mechanisms of PANS associated with other infectious and noninfectious triggers. The authors propose an animal modeling strategy that incorporates known vulnerability and triggering factors for PANS into the modeling process. This novel strategy should expand our understanding of the pathophysiology of PANS, as well as facilitate the development of new pharmacological treatments for PANS and related syndromes.
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Trastorno del Espectro Autista , Enfermedades Autoinmunes , Microbiota , Infecciones Estreptocócicas , Animales , Trastorno del Espectro Autista/tratamiento farmacológico , Epitelio , Humanos , Modelos Animales , Trastorno Obsesivo Compulsivo , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/psicologíaRESUMEN
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.
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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.
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Humanos , Niño , Síndrome de Tourette/tratamiento farmacológicoRESUMEN
Objective: Trichotillomania (TTM) is characterized by the pulling out of one's hair. TTM was classified as an impulse control disorder in DSM-IV, but is now classified in the obsessive-compulsive related disorders section of DSM-5. Classification for TTM remains an open question, especially considering its impact on treatment of the disorder. In this review, we questioned the relation of TTM to tic disorder and obsessive-compulsive disorder (OCD). Method: We reviewed relevant MEDLINE-indexed articles on clinical, neuropsychological, neurobiological, and therapeutic aspects of trichotillomania, OCD, and tic disorders. Results: Our review found a closer relationship between TTM and tic disorder from neurobiological (especially imaging) and therapeutic standpoints. Conclusion: We sought to challenge the DSM-5 classification of TTM and to compare TTM with both OCD and tic disorder. Some discrepancies between TTM and tic disorders notwithstanding, several arguments are in favor of a closer relationship between these two disorders than between TTM and OCD, especially when considering implications for therapy. This consideration is essential for patients.
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Humanos , Masculino , Femenino , Tricotilomanía/clasificación , Síndrome de Tourette/clasificación , Trastorno Obsesivo Compulsivo/clasificación , Tricotilomanía/etiología , Tricotilomanía/terapia , Neurobiología , Comorbilidad , Resultado del Tratamiento , Manual Diagnóstico y Estadístico de los Trastornos Mentales , NeuropsicologíaRESUMEN
Resumen Un tic es un movimiento (tics motores) o sonido (tics vocal o fónico) breve, repentino y no rítmico. El DSM 5 define tres trastornos por tics: transitorios, vocales o motores persistentes y, el trastorno de la Tourette. Su diagnóstico es eminentemente clínico, siendo cruciales la historia clínica y la observación para realizar un adecuado diagnóstico diferencial con otros trastornos hipercinéticos del movimiento, tales como distonías, corea o atetosis, entre otros. Se presenta el caso de un niño de nueve años diagnosticado luego de dos meses de síntomas y de tratamientos inadecuados, quien mejoró luego de establecerse un diagnóstico correcto y ofrecerse terapia farmacológica dirigida.
Abstract A tic is a movement (motor tics) or sound (vocal or phonic tics) that is brief, sudden and not rhythmic. The DSM 5 defines three tics disorders: transient tics disorder, persistent (chronic) vocal or motor tics disorder, and Tourette's syndrome. Their diagnosis is mainly made through clinical history and observation. It is crucial to make an adequate differential diagnosis with other hyperkinetic disorders as dystonias, choreas or athetosis. We present the case of a 9-year-old boy diagnosed after 2 months of symptoms and inadequate treatments, who improved after establishing a correct diagnosis and offering targeted pharmacological therapy.
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Tourette's syndrome (TS) is a neurodevelopmental disorder that comprises vocal and motor tics associated with a high frequency of psychiatric comorbidities, which has an important impact on quality of life. The onset is mainly in childhood and the symptoms can either fade away or require pharmacological therapies associated with cognitive-behavior therapies. In rare cases, patients experience severe and disabling symptoms refractory to conventional treatments. In these cases, deep brain stimulation (DBS) can be considered as an interesting and effective option for symptomatic control. DBS has been studied in numerous trials as a therapy for movement disorders, and currently positive data supports that DBS is partially effective in reducing the motor and non-motor symptoms of TS. The average response, mostly from case series and prospective cohorts and only a few controlled studies, is around 40% improvement on tic severity scales. The ventromedial thalamus has been the preferred target, but more recently the globus pallidus internus has also gained some notoriety. The mechanism by which DBS is effective on tics and other symptoms in TS is not yet understood. As refractory TS is not common, even reference centers have difficulties in performing large controlled trials. However, studies that reproduce the current results in larger and multicenter randomized controlled trials to improve our knowledge so as to support the best target and stimulation settings are still lacking. This article will discuss the selection of the candidates, DBS targets and mechanisms on TS, and clinical evidence to date reviewing current literature about the use of DBS in the treatment of TS.
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INTRODUCTION: Deep brain stimulation (DBS) of the thalamic centromedian-parafascicular (CM-Pf) region is the most common target to treat refractory Tourette syndrome (TS), but the improvement among the patients is quite variable. This study describes the outcomes of stimulation in TS patients and attempts to determine whether the volume of tissue activated (VTA) inside the thalamus or the structural connectivity between the area stimulated and different regions of the brain is associated with tic improvement. METHODS: The DBS patient response was measured as the percentage change in the Yale Global Tic Severity Scale (YGTSS) before and 12â¯months after surgery. The sum of the two overlapping VTA/CM-Pf volumes from both hemispheres was correlated with the percent change in YGTSS scores to assess whether the area stimulated inside the CM-Pf affects the clinical outcome. Structural connectivity estimates between the VTA (of each patient) and different regions of the brain were computed using a normative connectome that was taken from healthy subjects. RESULTS: Five male patients aged 26.8⯱â¯9.3â¯years were included. No relationships were found between the areas stimulated and the changes in patient tics (pâ¯=â¯.374). However, the right frontal middle gyrus (Râ¯=â¯0.564, pâ¯=â¯.03), the left frontal superior sulci region (Râ¯=â¯0.900, pâ¯=â¯.030) and the left cingulate sulci region (Râ¯=â¯0.821, pâ¯=â¯.045) structurally correlated with tic improvement. CONCLUSION: These data suggests that the volume of thalamic area that is stimulated does not explain the variance in outcomes in TS, however, the pattern of connectivity between the region stimulated and specific brain cortical areas is linked to patient outcome.
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Encéfalo/diagnóstico por imagen , Estimulación Encefálica Profunda/métodos , Red Nerviosa/diagnóstico por imagen , Síndrome de Tourette/terapia , Adolescente , Adulto , Conectoma , Humanos , Masculino , Índice de Severidad de la Enfermedad , Síndrome de Tourette/diagnóstico por imagen , Resultado del Tratamiento , Adulto JovenRESUMEN
RESUMEN Fundamentación: El síndrome Gilles de la Tourette es un proceso neuropsiquiátrico de causa desconocida caracterizado por múltiples tics. Los desórdenes relacionados al gluten cubren múltiples manifestaciones clínicas inmunológicas ante el consumo de gluten; incluyen la enfermedad celíaca y la sensibilidad al gluten no celíaca. Se han publicado casos de síndrome Gilles de la Tourette con sensibilidad al gluten no celíaca, pero ninguno relacionado con la enfermedad celíaca clásica. Reporte de caso: Paciente masculino de 20 años, con diagnóstico de EC desde la infancia y cuadro típico de Tourette diagnosticado recientemente. Mostró excelente respuesta y remisión clínica neurológica y conductual después de establecerse rigurosamente una dieta libre de gluten. Conclusiones: Es necesario incluir entre los grupos de riesgo de sensibilidad al gluten los niños con trastornos neuropsicológicos como los aquí referidos. La enfermedad celíaca clásica debe incluirse entre las posibles asociaciones con el síndrome Gilles de la Tourette. La dieta restrictiva también mejora en estos casos la evolución de ambas enfermedades (AU)
ABSTRACT Background: The Gilles de la Tourette syndrome is a neuropsychiatric process of unknown cause characterized by multiple tics. Disorders related to gluten cover multiple immunological clinical manifestations when eating gluten; they include celiac disease and non-celiac gluten sensitivity. There have been cases of Gilles de la Tourette syndrome with sensitivity to non-celiac gluten, but none related to classic celiac disease. Case report: A 20-year-old male patient, with a CD diagnosis from childhood and typical GTS pattern recently diagnosed. He showed excellent response and clinical neurological and behavioral remission after rigorously establishing a gluten-free diet. Conclusions: Children with neuropsychological disorders such as those referred here need to be included among the risk groups with gluten sensitivity. Classical celiac disease should be included among the possible associations with the Gilles de la Tourette syndrome. The restrictive diet also improves the evolution of both diseases in these cases (AU)
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Humanos , Síndrome de Tourette , Enfermedad Celíaca , Dieta Sin GlutenRESUMEN
RESUMEN Fundamentación: El síndrome Gilles de la Tourette es un proceso neuropsiquiátrico de causa desconocida caracterizado por múltiples tics. Los desórdenes relacionados al gluten cubren múltiples manifestaciones clínicas inmunológicas ante el consumo de gluten; incluyen la enfermedad celíaca y la sensibilidad al gluten no celíaca. Se han publicado casos de síndrome Gilles de la Tourette con sensibilidad al gluten no celíaca, pero ninguno relacionado con la enfermedad celíaca clásica. Reporte de caso: Paciente masculino de 20 años, con diagnóstico de EC desde la infancia y cuadro típico de Tourette diagnosticado recientemente. Mostró excelente respuesta y remisión clínica neurológica y conductual después de establecerse rigurosamente una dieta libre de gluten. Conclusiones: Es necesario incluir entre los grupos de riesgo de sensibilidad al gluten los niños con trastornos neuropsicológicos como los aquí referidos. La enfermedad celíaca clásica debe incluirse entre las posibles asociaciones con el síndrome Gilles de la Tourette. La dieta restrictiva también mejora en estos casos la evolución de ambas enfermedades.
ABSTRACT Background: The Gilles de la Tourette syndrome is a neuropsychiatric process of unknown cause characterized by multiple tics. Disorders related to gluten cover multiple immunological clinical manifestations when eating gluten; they include celiac disease and non-celiac gluten sensitivity. There have been cases of Gilles de la Tourette syndrome with sensitivity to non-celiac gluten, but none related to classic celiac disease. Case report: A 20-year-old male patient, with a CD diagnosis from childhood and typical GTS pattern recently diagnosed. He showed excellent response and clinical neurological and behavioral remission after rigorously establishing a gluten-free diet. Conclusions: Children with neuropsychological disorders such as those referred here need to be included among the risk groups with gluten sensitivity. Classical celiac disease should be included among the possible associations with the Gilles de la Tourette syndrome. The restrictive diet also improves the evolution of both diseases in these cases.
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Síndrome de Tourette , Enfermedad Celíaca , Dieta Sin GlutenRESUMEN
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.
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Humanos , Masculino , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Síndrome de Tourette/fisiopatología , Atención , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Síndrome de Tourette/complicaciones , Función Ejecutiva/fisiología , Inhibición Psicológica , Discapacidades para el Aprendizaje/fisiopatología , Memoria a Corto Plazo/fisiologíaRESUMEN
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.
RESUMEN
RESUMEN OBJETIVO: Describir aspectos generales en relación con los eventos cerebrovasculares (ECV) isquémicos, así como los principales factores pronósticos que se han relacionado con el desenlace y la recuperación funcional posterior al evento cerebrovascular. MATERIALES Y MÉTODOS: Se realizó una revisión narrativa utilizando bases de datos (PubMed, Science Direct, MEDLINE), plataformas virtuales (National Institutes of Health) y publicaciones del Acta Neurológica Colombiana. RESULTADOS: Ser mujer, la edad avanzada, la inatención (negligencia), la gravedad del compromiso cognitivo y de la función ejecutiva, la desnutrición, y comorbilidades como la neumonía se asocian con un peor pronóstico en los 90 días posteriores al evento. Las alteraciones en la esfera mental (delirio), alteración de la conciencia, hemiplejia o parálisis de la mirada conjugada y el origen cardioembólico del ECV son algunos de los factores asociados con la mortalidad. La lateralidad hemisférica es una variable importante a tener en cuenta para valorar el pronóstico y la discapacidad funcional residual posevento; sin embargo, la evidencia actual es poco concluyente y algo contradictoria en relación con su rol como factor pronóstico. CONCLUSIONES: Es importante un diagnóstico temprano y una intervención adecuada de los pacientes afectados con ECV isquémico, así como el control precoz de los factores modificables de mal pronóstico. Entre los no modificables, la lateralidad hemisférica podría ser más bien un criterio de selección para un programa de rehabilitación específico y personalizado, pues indudablemente existe un compromiso cognitivo y del lenguaje que difiere sustancialmente en relación con la ubicación topográfica de la lesión.
SUMMARY OBJETIVE: To describe general aspects related to acute ischemic stroke (AIS), as well as to know the main prognostic factors that have been related to the outcome and functional recovery after the AIS. MATERIALS AND METHODS: A narrative review was performed using databases (PubMed, Science-Direct, MEDLINE), virtual platforms (National Institutes of Health) and publications of the Colombian Neurological Record. RESULTS: Being female, advanced age, inattention (neglect), severity of cognitive and executive function impairment, malnutrition, and comorbidities such as pneumonia are associated with a worse prognosis in the 90 days after the event. Alterations in the mental sphere (delirium), altered consciousness, hemiplegia or paralysis of the conjugate gaze and the cardioembolic origin of the AIS are some of the factors that are associated with higher mortality. Hemispheric laterality is an important variable to consider in assessing the prognosis and residual functional disability post-event; however the current evidence is inconclusive and somewhat contradictory. CONCLUSIONS: Early diagnosis and adequate intervention of patients with AIS and early control of modifiable factors of poor prognosis are important. Among the non-modifiable, hemispheric laterality may be more a selection criterion for a specific and personalized rehabilitation program, since there is undoubtedly a cognitive and language compromise that differs substantially in relation to the topographical location of the ischemic lesion.
Asunto(s)
Pronóstico , Rehabilitación , Isquemia Encefálica , Factores de Riesgo , Accidente Cerebrovascular , Evaluación de la DiscapacidadRESUMEN
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.