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3.
Am J Med Genet B Neuropsychiatr Genet ; 174(7): 663-670, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28901686

RESUMO

Schizophrenia (SZ) is a disorder with a high heritability and a complex architecture. Several dozen genetic variants have been identified as risk factors through genome-wide association studies including large population-based samples. However, the bulk of the risk cannot be accounted for by the genes associated to date. Rare mutations have been historically seen as relevant only for some infrequent, Mendelian forms of psychosis. Recent findings, however, show that the subset of patients that present a mutation with major effect is larger than expected. We discuss some of the molecular findings of these studies. SZ is clinically and genetically heterogeneous. To identify the genetic variation underlying the disorder, research should be focused on features that are more likely a product of genetic heterogeneity. Based on the phenotypical correlations with rare variants, cognition emerges as a relevant domain to study. Cognitive disturbances could be useful in selecting cases that have a higher probability of carrying deleterious mutations, as well as on the correct ascertainment of sporadic cases for the identification of de novo variants.


Assuntos
Marcadores Genéticos , Predisposição Genética para Doença , Variação Genética , Esquizofrenia/genética , Genótipo , Humanos , Fenótipo
4.
Trials ; 18(1): 233, 2017 05 25.
Artigo em Inglês | MEDLINE | ID: mdl-28545578

RESUMO

BACKGROUND: According to the projections of the World Health Organization, 15% of all disabilities will be associated with mental illnesses by 2020. One of the mental disorders with the largest social impacts due to high personal and family costs is psychosis. Among the most effective psychological approaches to treat schizophrenia and other psychotic disorders at the world level is cognitive behavioral therapy. Recently, cognitive behavioral therapy has introduced several tools and strategies that promote psychological processes based on acceptance and mindfulness. A large number of studies support the effectiveness of mindfulness in dealing with various mental health problems, including psychosis. This study is aimed at determining the efficiency of a mindfulness-based program in increasing cognitive function and psychological well-being in patients with a first episode of schizophrenia and a high risk mental state (those at risk of developing an episode of psychosis). METHODS AND DESIGN: This is an experimentally designed, multi-center randomized controlled trial, with a 3-month follow-up period. The study participants will be 48 patients diagnosed with schizophrenia (first episode) and 48 with a high-risk mental state, from Santiago, Chile, aged between 15 and 35 years. Participants will be submitted to a mindfulness-based intervention (MBI), which will involve taking part in eight mindfulness workshops adapted for people with psychosis. Workshops will last approximately 1.5 hours and take place once a week, over 8 weeks. The primary outcome will be the cognitive function through Measurement and Treatment Research to Improve Cognition in Schizophrenia (MATRICS) and the secondary outcome will be psychological well-being measured by self-reporting questionnaires. DISCUSSION: The outcomes of this trial will add empirical evidence to the benefits and feasibility of MBIs for the psychotherapeutic treatment of patients with schizophrenia and high-risk mental states in reducing cognitive impairment in attention, working memory, and social cognition, as well as increasing the psychological well-being by empowering the patients' personal resources in the management of their own symptoms and psychotic experiences. TRIAL REGISTRATION: ISRCTN registration number ISRCTN24327446 . Registered on 12 September 2016.


Assuntos
Cognição , Terapia Cognitivo-Comportamental/métodos , Intervenção Médica Precoce , Saúde Mental , Atenção Plena , Esquizofrenia/terapia , Psicologia do Esquizofrênico , Adolescente , Adulto , Atenção , Chile , Protocolos Clínicos , Feminino , Humanos , Masculino , Memória , Escalas de Graduação Psiquiátrica , Projetos de Pesquisa , Fatores de Risco , Esquizofrenia/diagnóstico , Autorrelato , Comportamento Social , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
5.
Rev. psiquiatr. clín. (Santiago de Chile) ; 45(1/2): 39-47, dic. 2008. tab, graf
Artigo em Espanhol | LILACS | ID: lil-532989

RESUMO

A partir del año 2006, el equipo docente de la unidad de psiquiatría infanto juvenil de la Clínica psiquiátrica Universitaria de la Universidad de Chile (PCUCh) introduce en el programa de formación de los especialistas el desarrollo de un trabajo de investigación a realizarse en el periodo de los tres años de especialización, con el fin de realizar investigación clínica y aportar en el avance del entendimiento de la salud mental de los niños y adolescentes. El presente artículo muestra un marco teórico sobre la magnitud del problema y parte de los avances del trabajo de investigación realizado durante la formación. El objetivo es evaluar y caracterizar, a través de una muestra que representa de forma parcial a jóvenes pertenecientes a establecimientos educacionales de la Región Metropolitana, la penetración del uso de Internet, el perfil de su uso y la presencia de uso problemático a través de la utilización de la escala de adicción a Internet de Young. Este trabajo pretende dar inicio a una nueva área de investigación en la población chilena, ya que si bien hay estudios internacionales sobre el uso de Internet, en Chile aún no hay ninguna investigación que evalúe cómo afecta este recurso tecnológico en los adolescentes de nuestra población.


In year 2006 an academic team from the child-youth Psychiatric Unit - Psychiatric Clinic of the Universidad de Chile (PCUCh) begins an investigation in the Specialties Training Program, in order to be finished by the end of the three years of specialization. The objectives of this studies were both doing clinic research and contributing to the understanding of children and young people’s mental health. This article shows the theoretical framework concerning this issue and is a part of the work done during those years. The aim of the research is to assess and characterize the internet penetration, user profile and the presence of troubling use, measuring this last variable through Young’s Internet Addiction Scale. With a sample that partially represents young people from Region Metropolitan, the major district of Chile’s capital. This article looks forward to start a new researching topic in Chilean people, due to the fact that, even though there is some international evidence, Chilean researchers have not raise the issue before.


Assuntos
Humanos , Masculino , Adolescente , Feminino , Comportamento Aditivo/diagnóstico , Comportamento Aditivo/psicologia , Comportamento do Adolescente , Internet , Assunção de Riscos , Chile , Inquéritos e Questionários , Escalas de Graduação Psiquiátrica , Projetos Piloto
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