Tourette's syndrome and associated disorders: a systematic review

To compile data on Tourette's syndrome (TS), tics and associated disorders. METHODS: A systematic review of the literature was conducted using the 5S levels of organization of healthcare research evidence (systems, summaries, synopses, syntheses, studies), based on the model described by Haynes. The search keywords were Tourette, tics and comorbidity, which were cross-referenced. Studies provided by publishers and articles being processed on July 31, 2013, were also included. RESULTS: Of all studies retrieved during the search, 64 were selected because they analyzed the epidemiology, clinical features and etiopathogenesis of TS and its comorbidities. TS is classified as a hyperkinetic movement disorder, and at least 90% of the patients have neuropsychiatric comorbidities, of which attention deficit hyperactivity and obsessive-compulsive disorders are the most common. The syndrome is clinically heterogeneous and has been associated with a dysfunction of cortico-striatal-thalamic-cortical circuits involving various neurotransmitters. Although its genetic etiology has been widely studied, other factors may be important to understand this syndrome and its associated disorders. CONCLUSIONS: TS is a neurodevelopmental disorder that results from the impact of stress factors on a vulnerable biological substrate during the critical periods of neurodevelopment. The study of TS and its comorbidities may contribute, at different levels, to the understanding of several neuropsychiatric disorders of clinical and therapeutic relevance.

Viver com perturbação de hiperatividade e défice de atenção: um estudo de caso

Relatório de Estágio apresentado à Escola Superior de Educação de Paula Frassinetti para obtenção do grau de Mestre em Educação Pré-Escolar e Ensino do 1º CEB.

Relatório de estágio : Centro de Apoio ao Desenvolvimento Infantil, CADIn

O presente relatório descreve a prática profissional desenvolvida no Centro de Apoio ao Desenvolvimento Infantil (CADIn), no âmbito do Ramo de Aprofundamento de Competências Profissionais (RACP), enquadrado no 2º Ano do 2º Ciclo de Reabilitação Psicomotora, correspondente ao ano letivo 2014/2015. O trabalho desenvolvido no CADIn foi realizado, principalmente, junto de crianças e jovens com Dificuldades de Aprendizagem Específicas (DAE). As DAE, de origem neurobiológica e intrínsecas ao indivíduo, caracterizam-se por um conjunto de traços heterogéneos que se manifestam na aquisição e uso das competências auditivas, da fala, da leitura, da escrita, do raciocínio e/ou matemáticas. Podem coexistir com outras perturbações, como é o caso da Perturbação de Hiperatividade e Défice de Atenção (PHDA). A heterogeneidade dos perfis de aprendizagem de crianças com DAE torna o processo de intervenção um desafio permanente. Neste sentido, a intervenção psicomotora surge como uma resposta que permite o desenvolvimento holístico do indivíduo, viabilizando a apropriação dos processos simbólicos. O relatório está organizado em Enquadramento da Prática Profissional, que inclui o Enquadramento Teórico e o Enquadramento Institucional, e Realização da Prática Profissional, onde são abordados dois estudos de caso, de uma forma mais detalhada.

Avaliação ecológica das funções executivas em crianças e adolescentes com perturbação de hiperatividade e défice de atenção

Objetivos: O presente estudo teve como primeiro objetivo estudar Funcionamento Executivo na Perturbação de Hiperatividade e Défice de Atenção (PHDA) e, como segundo, analisar o potencial das vinhetas como instrumento de avaliação ecológica nas Funções Executivas. Métodos: Neste estudo participaram 15 Pais de crianças com PHDA, com idades compreendidas entre o 6 e os 16 anos. As crianças foram avaliadas quantitativamente e qualitativamente pelos Pais. Quantitativamente foram avaliados nos 8 domínios específicos do Funcionamento Executivo: Controlo Inibitório, Flexibilidade, Controlo Emocional, Iniciativa, Memória de Trabalho, Planeamento/Organização, Organização de Materiais e Monitorização e nas subescalas do instrumento de avaliação. Qualitativamente foram avaliados a partir de vinhetas com situações do dia-a-dia. Para a avaliação das Funções Executivas foi utilizado o instrumento de avaliação ICAFE – P - Inventário Comportamental de Avaliação das Funções Executivas – Versão para Pais. Resultados: Os resultados sugerem que as maiores dificuldades no quotidiano se relacionam com vulnerabilidades na Memória de Trabalho. Parecem não existir grandes diferenças nas respostas dos pais em função do género. Já no que refere à faixa etária, os pais apresentam respostas diferentes. Conclusões: Constatou-se que a amostra apresenta, de um modo geral, problemas em todos os domínios presentes nas Funções Executivas. Destacando-se dificuldades acrescidas em situações de memória de trabalho e de planeamento. São necessários mais estudos sobre esta temática e com amostras superiores.

Registro de pacientes con distrofinopatías en Colombia

INTRODUCCIÓN. La distrofia muscular de Duchenne es una enfermedad neuromuscular con una herencia recesiva ligada al X que afecta a 1 de cada 3500 niños nacidos vivos. Se produce por mutaciones en el gen DMD que codifica para la distrofina. Se caracteriza por manifestaciones clínicas variables típicas de una distrofia muscular proximal progresiva. OBJETIVO. Realizar el primer registro en Colombia de los pacientes identificados con distrofinopatías, teniendo en cuenta características clínicas y paraclínicas, así como las mutaciones causales de esta patología. METODOLOGÍA Es un estudio descriptivo, transversal, de la revisión de historias clínicas de los pacientes con diagnóstico de DMD atendidos en la consulta de Genética de la Universidad del Rosario durante los años 2006 a 2015. RESULTADOS Se identificaron 99 pacientes, de los cuales 56 (56,56%) corresponden al fenotipo Duchenne y 12 (12,12%) al Becker. No fue posible clasificar a 31 pacientes (31,3%) por falta de datos clínicos. La edad de inicio de los síntomas fue en promedio de 4,41 años. Las mutaciones más frecuentes fueron las deleciones (69%), seguidas por las mutaciones puntuales(14%), las duplicaciones (11%) y por otras mutaciones (4%). CONCLUSIONES Este registro de distrofinopatías es el primero reportado en Colombia y el punto de partida para conocer la incidencia de la enfermedad, caracterización clínica y molecular de los pacientes, garantizando así el acceso oportuno a los nuevos tratamientos de medicina de precisión que permitan mejorar la calidad de vida de los pacientes y sus familias.

Avaliação da qualidade de vida e dos sintomas de stress em mulheres menopausadas com disfunção da articulação temporomandibular

Universidade Estadual de Campinas . Faculdade de Educação Física

Communicative and psycholinguistic abilities in children with phenylketonuria and congenital hypothyroidism

The Neonatal Screening for Inborn Errors of Metabolism of the Association of Parents and Friends of Special Needs Individuals (APAE) - Bauru, Brazil, was implanted and accredited by the Brazilian Ministry of Health in 1998. It covers about 286 cities of the Bauru region and 420 collection spots. Their activities include screening, diagnosis, treatment and assistance to congenital hypothyroidism (CH) and phenylketonuria (PKU), among others. In 2005, a partnership was established with the Department of Speech-Language Pathology and Audiology, Bauru School of Dentistry, University of São Paulo, Bauru, seeking to characterize and to follow, by means of research studies, the development of the communicative abilities of children with CH and PKU. OBJECTIVE: The aim of this study was to describe communicative and psycholinguistic abilities in children with CH and PKU. MATERIALS AND METHODS: Sixty-eight children (25 children aged 1 to 120 months with PKU and 43 children aged 1 to 60 months with CH) participated in the study. The handbooks were analyzed and different instruments were applied (Observation of Communication Behavior, Early Language Milestone Scale, Peabody Picture Vocabulary Test, Gesell & Amatruda's Behavioral Development Scale, Portage Operation Inventory, Language Development Evaluation Scale, Denver Developmental Screening Test, ABFW Child Language Test-phonology and Illinois Test of Psycholinguistic Abilities), according to the children's age group and developmental level. RESULTS: It was observed that the children with PKU and CH at risk for alterations in their developmental abilities (motor, cognitive, linguistic, adaptive and personal-social), mainly in the first years of life. Alterations in the psycholinguistic abilities were also found, mainly after the preschool age. Attention deficits, language and cognitive alterations were more often observed in children with CH, while attention deficits with hyperactivity and alterations in the personal-social, language and motor adaptive abilities were more frequent in children with PKU. CONCLUSION: CH and PKU can cause communicative and psycholinguistic alterations that compromise the communication and affect the social integration and learning of these individuals, proving the need of having these abilities assisted by a speech and language pathologist.

Executive "brake failure" following deactivation of human frontal lobe

In the course of daily living, humans frequently encounter situations in which a motor activity, once initiated, becomes unnecessary or inappropriate. Under such circumstances, the ability to inhibit motor responses can be of vital importance. Although the nature of response inhibition has been studied in psychology for several decades, its neural basis remains unclear. Using transcranial magnetic stimulation, we found that temporary deactivation of the pars opercularis in the right inferior frontal gyrus selectively impairs the ability to stop an initiated action. Critically, deactivation of the same region did not affect the ability to execute responses, nor did it influence physiological arousal. These findings confirm and extend recent reports that the inferior frontal gyrus is vital for mediating response inhibition.

Effects of childhood development on late-life mental disorders

Purpose of review To explore recent findings bridging childhood development and common late-life mental disorders in the elderly. Recent findings We addressed aging as a part of the developmental process in central nervous system, typical and atypical neurodevelopment focusing on genetic and environmental risk factors and their interplay and links between psychopathology from childhood to the elderly, unifying theoretical perspectives and preventive intervention strategies. Summary Current findings suggest that childhood development is strictly connected to psychiatric phenotypes across the lifespan. Although we are far from a comprehensive understanding of mental health trajectories, some initial findings document both heterotypic and homotypic continuities from childhood to adulthood and from adulthood to the elderly. Our review also highlights the urgent need for investigations on preventive interventions in individuals at risk for mental disorders.

Muscle sympathetic nervous activity in depressed patients before and after treatment with sertraline

Background Sympathetic hyperactivity is one of the mechanisms involved in the increased cardiovascular risk associated with depression, and there is evidence that antidepressants decrease sympathetic activity. Objectives We tested the following two hypotheses: patients with major depressive disorder with high scores of depressive symptoms (HMDD) have augmented muscle sympathetic nervous system activity (MSNA) at rest and during mental stress compared with patients with major depressive disorder with low scores of depressive symptoms (LMDD) and controls; sertraline decreases MSNA in depressed patients. Methods Ten HMDD, nine LMDD and 11 body weight-matched controls were studied. MSNA was directly measured from the peroneal nerve using microneurography for 3 min at rest and 4 min during the Stroop color word test. For the LMDD and HMDD groups, the tests were repeated after treatment with sertraline (103.3 +/- 40 mg). Results Resting MSNA was significantly higher in the HMDD [29.1 bursts/min (SE 2.9)] compared with LMDD [19.9 (1.6)] and controls [22.2 (2.0)] groups (P=0.026 and 0.046, respectively). There was a significant positive correlation between resting MSNA and severity of depression. MSNA increased significantly and similarly during stress in all the studied groups. Sertraline significantly decreased resting MSNA in the LMDD group and MSNA during mental stress in LMDD and HMDD groups. Sertraline significantly decreased resting heart rate and heart rate response to mental stress in the HMDD group. Conclusion Moderate-to-severe depression is associated with increased MSNA. Sertraline treatment reduces MSNA at rest and during mental challenge in depressed patients, which may have prognostic implications in this group. J Hypertens 27:2429-2436 (c) 2009 Wolters Kluwer Health vertical bar Lippincott Williams & Wilkins.

Development of Lifetime Comorbidity in the World Health Organization World Mental Health Surveys

Context: Although numerous studies have examined the role of latent variables in the structure of comorbidity among mental disorders, none has examined their role in the development of comorbidity. Objective: To study the role of latent variables in the development of comorbidity among 18 lifetime DSM-IV disorders in the World Health Organization World Mental Health Surveys. Design: Nationally or regionally representative community surveys. Setting: Fourteen countries. Participants: A total of 21 229 survey respondents. Main Outcome Measures: First onset of 18 lifetime DSM-IV anxiety, mood, behavior, and substance disorders assessed retrospectively in the World Health Organization Composite International Diagnostic Interview. Results: Separate internalizing (anxiety and mood disorders) and externalizing (behavior and substance disorders) factors were found in exploratory factor analysis of lifetime disorders. Consistently significant positive time-lagged associations were found in survival analyses for virtually all temporally primary lifetime disorders predicting subsequent onset of other disorders. Within-domain (ie, internalizing or externalizing) associations were generally stronger than between-domain associations. Most time-lagged associations were explained by a model that assumed the existence of mediating latent internalizing and externalizing variables. Specific phobia and obsessive-compulsive disorder (internalizing) and hyperactivity and oppositional defiant disorders (externalizing) were the most important predictors. A small number of residual associations remained significant after controlling the latent variables. Conclusions: The good fit of the latent variable model suggests that common causal pathways account for most of the comorbidity among the disorders considered herein. These common pathways should be the focus of future research on the development of comorbidity, although several important pairwise associations that cannot be accounted for by latent variables also exist that warrant further focused study.

Nitric oxide modulation of methylphenidate-induced disruption of prepulse inhibition in Swiss mice

Drugs that facilitate dopaminergic neurotransmission induce cognitive and attentional deficits which include inability to filter sensory input measured by prepulse inhibition (PPI) Methylphenidate, an amphetamine analog is used in the treatment of attention deficit hyperactivity disorder Given that nitric oxide (NO) modulates dopamine effect our aim is to analyze the nitric oxide synthase (NOS) and soluble guanylate cyclase (sGC) inhibitors effect on PPI disruption induced by methylphenidate The inhibitors effects were compared to those produced by haloperidol and clozapine Male Swiss mice received a first I p. Injection (one hour before testing), of either saline, or N(G) nitro L-arginine (10, 40 or 90 mg/kg) or 7-Nitroindazole (3, 10, 30 or 60 mg/kg). or oxadiazolo-quinoxalin (5 or 10 mg/kg). or haloperidol (1 mg/kg), or clozapine (5 mg/kg) Thirty min later mice received the second injection of either saline or methylphenidate (20 or 30 mg/kg) or amphetamine (5 or 10 mg/kg). One group of mice received intracerebroventricular 7-Nitroindazole (50 or 100 nM) followed by systemic administration of saline or methylphenidate (30 mg/kg) The results revealed a methylphenidate dose-dependent disruption of PPI comparable to amphetamine. The effect was prevented by either nitric oxide synthase or guanilate cyclase inhibitors or clozapine or haloperidol In conclusion, methylphenidate induced a dose-dependent PPI disruption in Swiss mice modulated by dopamine and NO/sGC. The results corroborate the hypothesis of dopamine and NO interacting to modulate sensorimotor gating through central nervous system. It may be useful to understand methylphenidate and other psychostimulants effects (C) 2009 Elsevier B.V All rights reserved

Conflitos conjugais e familiares e presença de transtorno de déficit de atenção e hiperatividade (TDAH) na prole: revisão sistemática

O transtorno do déficit de atenção e hiperatividade (TDAH) é um dos transtornos neurobiológicos com maior prevalência na infância e pode implicar dificuldades no funcionamento conjugal dos pais das crianças afetadas, bem como sofrer influência do mesmo. OBJETIVO: Realizar uma revisão sistemática acerca dos aspectos conjugais em famílias de crianças com TDAH, relacionando-os com outras variáveis, como a presença de comorbidades, aspectos socioeconômicos e saúde mental dos pais. MÉTODOS: Revisão sistemática de literatura por meio do PubMed entre os anos de 1996 e 2006, utilizando os termos "ADD", "ADHD", "Attention-Deficit Hyperactivity Disorder", "Attention-Deficit", "marital conflict" e "family". RESULTADOS: Dezesseis estudos dentre 628 publicações iniciais e 55 artigos posteriormente incluídos pelas referências bibliográficas foram avaliados. O relacionamento conjugal aparece comprometido em grande parte da literatura, principalmente nos pais daquelas crianças que apresentam distúrbio desafiador e de oposição (DDO) ou distúrbio de conduta comórbidos. Contudo, resultados opostos também são encontrados em diversas pesquisas. CONCLUSÕES: Os resultados de pesquisas referentes ao funcionamento conjugal de pais destas crianças são heterogêneos. É preciso que sejam feitos estudos longitudinais, que possam esclarecer o impacto do transtorno nos conflitos conjugais de pais de portadores, bem como a influência destes últimos na expressão clínica do transtorno.

A Brazilian version of the "Children's Interview for Psychiatric Syndromes" (ChIPS)

OBJETIVE: The advance of research in child and adolescent psychiatry in Brazil heavily depends on the existence of instruments for the investigation of psychiatric syndromes adapted to Brazilian Portuguese. METHODS: This article describes a careful process of translation of the Children's Interview for Psychiatric Syndromes for the purpose of use in research in Brazil. The Children's Interview for Psychiatric Syndromes has a version for parents (P-ChIPs) and a version for children (ChIPS). In this article, the sections of P-ChIPS referring to attention-deficit hyperactivity disorder, oppositional-defiant disorder, conduct disorder, mania/hypomania, anorexia nervosa, bulimia nervosa and psychotic disorders were translated to Brazilian Portuguese. The sections of the ChIPS referring to substance use disorders, social anxiety disorder, specific phobias, obsessive-compulsive disorder, generalized anxiety disoder, separation anxiety disorder, post-traumatic disorders and depression/dysthimia were also adapted. Each section was translated by two independent translators and later discussed in a committee composed of experts in the field of Psychiatry and a professional of the field of linguistics. RESULT: A final version containing an interview for the main psychiatric syndromes was defined. CONCLUSION: The translated P-ChIPS is a helpful instrument in children and adolescent clinical evaluation.