RESUMO
Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological mechanisms. Over two hundred risk regions and genes carrying rare de novo and transmitted high-impact variants have been identified. Additionally, common variants with small individual effect size are also important, and a number of loci are now being uncovered. At the same time, these new insights have highlighted ongoing challenges. In this perspective article, we summarize developments in ASD genetic research and address the enormous impact of large-scale genomic initiatives on ASD gene discovery.
Assuntos
Transtorno do Espectro Autista , Predisposição Genética para Doença , Genômica , Humanos , Fatores de Risco , Genômica/métodos , Transtorno do Espectro Autista/genética , Estudo de Associação Genômica Ampla , Transtorno Autístico/genética , Transtorno Autístico/etiologiaRESUMO
This study examines the personal beliefs held by parents of autistic children in Puerto Rico regarding the cause of their child's autism and how these beliefs may influence parental vaccination decision-making. This study seeks to contribute towards diversifying the autism literature by focusing on an autism community living in a relatively lower income, resource-deficit context. These findings expand our understandings of how parents of autistic children may perceive vaccines and how these perceptions are informed by various sources of knowledge. This ethnographic research study was conducted between May 2017 and August 2019. Methods included 350+ hours of participant-observation and semi-structured interviewing of 35 Puerto Rican parents of autistic children. 32 of these 35 parents interviewed believed autism to be the result of genetic risks that are 'triggered' by an unknown environmental factor. Suggested 'triggers' included various environmental contaminants and vaccinations. The subject of vaccination came up in every interview; 18 interviewed parents did not believe vaccines 'triggered' autism, 3 parents attributed their child's autism entirely to vaccines, while 14 considered vaccines to be one of several possible 'triggers'. It is important to note that no parents interviewed perceived vaccinations to be inherently or universally harmful. Rather, they perceived vaccinations to be one of many possible 'triggers' for a child predisposed to develop autism. In some cases, this perception prompted parents to oppose mandatory vaccination policies on the island. Parents shared nuanced, complex understandings of autism causation that may carry implications for COVID-19 vaccine uptake within the Puerto Rican autistic community.
Assuntos
Transtorno Autístico , Pais , Hesitação Vacinal , Vacinas , Criança , Humanos , Transtorno Autístico/etiologia , COVID-19 , Vacinas contra COVID-19 , Conhecimentos, Atitudes e Prática em Saúde , Porto Rico , Vacinação/psicologia , Vacinas/efeitos adversos , Hesitação Vacinal/etnologia , Hesitação Vacinal/psicologia , Antropologia Cultural , Antropologia MédicaRESUMO
Partimos do dito mãe geladeira, que se apresenta na mídia especulativa como um representante da práxis psicanalítica, sobretudo na clínica das patologias infantis, e buscamos elucidar essa expressão como um equívoco necessitando de elaboração. Para tal, seguiremos pelos autores pós-freudianos, que se amparavam na maternagem para dizer do sujeito, posição que pode ter contribuído para esse equívoco, e nos dirigimos a Lacan, que elucida e diferencia o lugar da mãe mulher como uma função. Enfim, concluímos que esse dito, na atualidade, se revela como mais uma forma de ataque à psicanálise no que se refere ao tratamento das crianças autistas.
Partimos del clásico comentario de la "madre fría" como supuestamente representante de la praxis psicoanalítica, sobre todo en la clínica de las patologías infantiles, y buscamos elucidar esa expresión como un siendo equívoco que merece ser analizado. Para eso, seguiremos los autores post-freudianos que, apoyándose en el maternaje para decir del sujeto, contribuyeran con ese equívoco, posteriormente nos ocupamos de Lacan, que elucida y diferencia el lugar de la madre mujer como una función. Concluimos que esa idea de la "madre fría" revelase como una forma más de ataque al psicoanálisis en lo que se refiere al tratamiento de los niños autistas.
We start from the maxim refrigerator mother, which presents itself in the speculative media as a representative of the psychoanalytical practice, especially in the clinical of childhood pathologies, and we seek to elucidate this expression as a mistake requiring elaboration. For that, we will follow the post-Freudian authors, who took refuge in the maternity to say of the subject, a position that may have contributed to this misconception, and we address to Lacan, who elucidates and differentiates the place of the mother woman as a function. Finally, we conclude that this saying, nowadays, reveals itself as another form of attack on psychoanalysis with regard to the treatment of autistic children.
Assuntos
Transtorno Autístico/etiologia , Comportamento Materno , Relações Mãe-Filho , PsicanáliseRESUMO
Este artigo teve como objetivo estabelecer uma discussão sobre diferentes modos de compreender a etiologia do autismo dentro do campo da psicanálise lacaniana, um deles que circunscreve o autismo enquanto psicose e o outro que o compreende como uma nova estrutura nosográfica. Para tanto, foi preciso retornar às elaborações de Jacques Lacan sobre a constituição do sujeito para que fosse possível refletir sobre os percursos teóricos dos autores identificando convergências, como a perseguição que o sujeito autista vive em relação aos signos da presença do Outro, e de que ordem são as divergências sobre a etiologia do autismo, se puramente políticas ou se possuem relevância clínica e epistêmica. A partir de proposições lacanianas como o estádio do espelho e os processos de alienação e separação, foi possível desenvolver a questão da entrada - forçada - do sujeito na linguagem e identificar a dimensão real do gozo que pode contribuir com a discussão clínica sobre a complexidade da aquisição da linguagem no sujeito autista.
This article aimed to establish a discussion about different ways of understan-ding the etiology of autism within the field of Lacanian psychoanalysis, one of which circumscribes autism to the realm of psychosis and the other that understands it as a new nosographic structure. In order to do so, it was neces-sary to return to Jacques Lacan's elaborations on the constitution of the subject so that it would be possible to reflect on the theoretical paths of the authors, identifying convergences, such as the persecution that the autistic subject expe-riences in relation to the signs of the presence of the Other, and of what order are the divergences about the etiology of autism, whether purely political or if they have clinical and epistemological relevance. From Lacanian propositions such as the mirror stage and the processes of alienation and separation, it was possible to develop the issue of the forced entry of the subject into language and to identify the real dimension of jouissance that may contribute to the clinical discussion on the complexity of the language acquisition in the autistic subject.
Este artículo tuvo como objetivo establecer una discusión sobre diferentes modos de comprender la etiología del autismo dentro del campo del psicoaná-lisis lacaniano, uno de ellos circunscribe el autismo como psicosis, y el otra lo comprende como una nueva estructura nosográfica. Por lo tanto, fue necesario retomar a las elaboraciones de Jacques Lacan sobre la constitución del sujeto para que fuera posible reflexionar sobre los recorridos teóricos de los autores, identificando convergencias, como la persecución que el sujeto autista vive en relación a los signos de la presencia del Otro, y de que orden son las diver-gencias sobre la etiología del autismo, si son simplemente políticas o si tienen relevancia clínica y epistémica. A partir de proposiciones lacanianas como el estadio del espejo y los procesos de alienación y separación, fue posible desar-rollar la cuestión de la entrada forzada del sujeto en el lenguaje y identificar la dimensión de lo real del goce, que puede contribuir con la discusión clínica acerca de la complejidad de la adquisición del lenguaje en el sujeto autista.
Assuntos
Humanos , Masculino , Feminino , Transtorno Autístico/etiologia , Psicanálise , Transtornos Psicóticos/diagnóstico , Diagnóstico DiferencialRESUMO
El autismo es un trastorno del neurodesarrollo caracterizado por compromiso en la interacción social y la comunicación, asociado a intereses restringidos y conductas estereotipadas con gran prevalencia poblacional, bases neurobiológicas y alta heredabilidad. Su etiología es heterogénea y se han reconocido numerosas bases genéticas, factores ambientales y mecanismos epigenéticos. Los avances en la genética molecular, así como los estudios epidemiológicos de grandes cohortes, han posibilitado identificar entidades médicas específicas, así como genes y factores ambientales vinculados parcial o totalmente en su patogenia. Estos conocimientos, conforme las características clínicas, permiten orientar los estudios complementarios, las conductas terapéuticas, inferir un pronóstico clínico y propiciar el asesoramiento genético familiar. En este trabajo analizamos las características clínicas de los trastornos del espectro del autismo, las entidades médicas específicas que están fuertemente relacionadas a los mismos, así como los genes reconocidos, los posibles factores ambientales y los resultados epidemiológicos que permiten el adecuado asesoramiento familiar.
Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. This knowledge, according to the clinical characteristics, allows to guide the complementary studies, the therapeutic conducts, to infer a clinical prognosis and to propitiate the familiar genetic advice. In this work, the most prevalent clinical characteristics identified are described; the specific medical entities that are strongly related to autism are stated, as well as the recognized genes, the possible environmental factors and the epidemiological results that allow family counseling.
Assuntos
Humanos , Transtorno Autístico/genética , Transtorno Autístico/etiologia , Transtorno Autístico/fisiopatologia , Epigênese Genética , Meio Ambiente , Transtorno do Espectro Autista/etiologia , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/genética , Aconselhamento GenéticoRESUMO
Autism is a neurodevelopmental disorder characterized by commitment to social interaction and communication, associated with interests restricted and stereotyped behaviors with a high population prevalence, neurobiological bases and high heritability. Its etiology is heterogeneous, numerous genetic bases, environmental factors and epigenetic mechanisms have been recognized. Advances in molecular genetics, as well as epidemiological studies of large cohorts, have made it possible to identify specific medical entities, as well as genes and environmental factors partially or totally linked in their pathogenesis. This knowledge, according to the clinical characteristics, allows to guide the complementary studies, the therapeutic conducts, to infer a clinical prognosis and to propitiate the familiar genetic advice. In this work, the most prevalent clinical characteristics identified are described; the specific medical entities that are strongly related to autism are stated, as well as the recognized genes, the possible environmental factors and the epidemiological results that allow family counseling.
El autismo es un trastorno del neurodesarrollo caracterizado por compromiso en la interacción social y la comunicación, asociado a intereses restringidos y conductas estereotipadas con gran prevalencia poblacional, bases neurobiológicas y alta heredabilidad. Su etiología es heterogénea y se han reconocido numerosas bases genéticas, factores ambientales y mecanismos epigenéticos. Los avances en la genética molecular, así como los estudios epidemiológicos de grandes cohortes, han posibilitado identificar entidades médicas específicas, así como genes y factores ambientales vinculados parcial o totalmente en su patogenia. Estos conocimientos, conforme las características clínicas, permiten orientar los estudios complementarios, las conductas terapéuticas, inferir un pronóstico clínico y propiciar el asesoramiento genético familiar. En este trabajo analizamos las características clínicas de los trastornos del espectro del autismo, las entidades médicas específicas que están fuertemente relacionadas a los mismos, así como los genes reconocidos, los posibles factores ambientales y los resultados epidemiológicos que permiten el adecuado asesoramiento familiar.
Assuntos
Transtorno Autístico/genética , Transtorno do Espectro Autista/etiologia , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/fisiopatologia , Transtorno Autístico/etiologia , Transtorno Autístico/fisiopatologia , Meio Ambiente , Epigênese Genética , Aconselhamento Genético , HumanosRESUMO
Objective: We tested the correlation between maternal protein malnutrition and autistic-like symptoms using behavioral tests in rodents that measure main behavioral characteristics observed in humans with autism spectrum disorder (ASD). Methods: Pregnant female rats were fed a normal diet or a hypoproteic diet during gestation and lactation periods. The litters were weighed every 3 days during lactation, and the offspring were tested in behavioral tasks during infancy (postnatal day (PND) 5: quantification of ultrasonic vocalizations; PND 13: homing behavior test) and adolescence (PND 30-32: open field, hole-board, play social behavior, and object recognition tests) in order to capture the prevalence of some of the core and associated symptoms of ASD. Results: Litters of the hypoproteic diet group had a lesser weight gain during lactation. In addition, pups of dams fed with a hypoproteic diet vocalized less compared to those fed with a normal diet, and they showed impaired social discrimination abilities in the homing behavior test. In adolescence, both male and female offspring of the hypoproteic diet group showed no impairment in locomotor activity; however, they exhibited stereotypic behavior in the hole-board test and a decrease in social play behaviors. Male offspring showed increased interest in exploring a familiar object rather than a novel object. Conclusion: Our results show that maternal protein malnutrition in rats causes offspring behaviors that resemble core and associated ASD symptoms.
Assuntos
Transtorno Autístico/etiologia , Fenômenos Fisiológicos da Nutrição Materna , Efeitos Tardios da Exposição Pré-Natal/psicologia , Deficiência de Proteína/psicologia , Animais , Comportamento Animal , Dieta com Restrição de Proteínas/psicologia , Feminino , Masculino , Gravidez , Complicações na Gravidez , Deficiência de Proteína/complicações , Vocalização AnimalRESUMO
A partir de um entendimento integrativo entre psicanálise e neurociências, busca-se compreender a etiologia do autismo. Trata-se de uma revisão bibliográfica narrativa que abarcou dados da história e do conceito de autismo por meio de uma pesquisa qualitativa de caráter exploratório em bases de dados, periódicos e livros. Apesar das divergências acerca da etiologia e tratamento entre as áreas, algumas investigações desenvolvidas concluem que, quando uma criança nasce com vulnerabilidades orgânicas, estas podem afetar o exercício das funções parentais. Assim, poderá ocorrer a potencialização ou o surgimento de traços autísticos no âmbito psíquico e, também, neurobiológico, dado que o desenvolvimento orgânico ocorre concomitantemente à subjetivação.
Based on an integrative understanding between Psychoanalysis and Neurosciences, this work aims to comprehend etiology of autism. This is a narrative literature review that includes data from the history and concept of autism through a qualitative exploratory research in databases, periodics and books. Despite the disparities on the etiology and treatment between these fields, some studies led to the conclusion that, when a child is born with organic vulnerabilities, they may affect the exercise of parental functions. Thus, either a potentialization may occur, or the appearance of autistic traits in both the psychic and also the neurobiological scope, since the individual is in the process of organic development concomitant with subjectivity.
A partir de un entendimiento integrativo entre Psicoanálisis y Neurociencias, se busca comprender la etiología del autismo. Se trata de una revisión bibliográfica narrativa que abarcó datos de la historia y del concepto del autismo por medio de una investigación cualitativa de carácter exploratorio en bases de datos, periódicos y libros. A pesar de las divergencias acerca de la etiología y el tratamiento entre las áreas, algunas investigaciones desarrolladas concluyen que, cuando un niño nace con vulnerabilidades orgánicas, éstas pueden afectar el ejercicio de las funciones parentales. Así, podrá ocurrir el aumento, o el surgimiento de síntomas autísticos en el ámbito psíquico y también neurobiológico, así que el desarrollo orgánico ocurre concomitante a la subjetivación.
Assuntos
Humanos , Psicanálise , Transtorno Autístico/etiologia , Transtorno Autístico/psicologia , NeurociênciasRESUMO
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53.3%) (mean age 27±16 years). Patients with WPW and/or VH were placed in a group of 18 individuals, in which 11 (61.1%) had VH and WPW, 6 (33.3%) had isolated WPW, and 1 (5.6%) had isolated VH. Palpitations occurred in 16 patients (88.9%), chest pain in 11 (61.1%), dizziness in 13 (72.2%), syncope in 15 (83.3%), and dyspnea in 13 (72%). Sudden cardiac death (SCD) occurred in 2 (11.1%), and 2 patients with cardiac arrest (CA) had asystole and pre-excited atrial flutter-fibrillation (AFL and AF) as the documented mechanism. Transient ischemic attack (TIA) and learning/language disabilities with delayed development were observed. Genetic analysis identified a new missense pathogenic variant (p.K290I) in the PRKAG2 gene. Cardiac histopathology demonstrated the predominance of vacuoles containing glycogen derivative and fibrosis. The treatment was based on hypertension and diabetes mellitus (DM) control, antiarrhythmic drugs (AD), anticoagulation, and radiofrequency catheter ablation (RCA). Six patients (33.3%) underwent pacemaker implantation (PM). CONCLUSIONS The present study describes the clinical treatment for a rare cardiac syndrome caused by a PRKAG2 mutation.