Análise comparativa do comportamento verbal nos três níveis de suporte do autismo / Comparative analysis of verbal behavior in the three levels of autism support / Análisis comparativo de la conducta verbal en los tres niveles de apoyo al autismo

OBJETIVO: O presente trabalho teve por objetivo avaliar e comparar a habilidade do comportamento verbal em crianças com distintos níveis de suporte do TEA. MÉTODO: Foram avaliadas onze crianças diagnosticadas com autismo e com faixa etária entre 2 e 7 anos e que apresentassem diversidade entre si quanto ao nível de suporte TEA. Para a averiguação do repertório de comunicação, eles foram avaliados a partir de um instrumento elaborado por uma equipe de profissionais especializados, investigando o comportamento não verbal, ecoico, mando, tato e intraverbal em três tentativas. RESULTADOS: Apesar do número reduzido de participantes, os resultados indicaram que pacientes no nível 3 de suporte apresentam maior comprometimento na comunicação comparado aos demais. O estudo destacou a importância do rastreio de habilidades comportamentais para um planejamento com maior eficácia para a intervenção e concomitantemente evolução clínica, respeitando assim as particularidades e singularidades de cada pessoa no espectro. CONCLUSÃO: Concluiu-se assim, a importância da análise de comportamentos e a investigação detalhada para cada paciente, a fim de que as intervenções sejam focadas em suas reais necessidades.

OBJECTIVE: The present work aimed to evaluate and compare the verbal behavior ability in children with different levels of ASD support. METHOD: Eleven children diagnosed with autism and aged between 2 and 7 years old and who presented diversity among themselves in terms of the level of ASD support were evaluated. To investigate their communication repertoire, they were evaluated using an instrument developed by a team of specialized professionals, investigating non-verbal, echoic, command, tact and intraverbal behavior in three attempts. RESULTS: Despite the small number of participants, the results indicated that patients at level 3 of support have greater impairment in communication compared to the others. The study highlighted the importance of screening behavioral skills for more effective planning for intervention and concomitant clinical evolution, thus respecting the particularities and singularities of each person on the spectrum. CONCLUSION: This concludes the importance of behavioral analysis and detailed investigation for each patient, so that interventions are focused on their real needs.

OBJETIVO: El presente trabajo tuvo como objetivo evaluar y comparar la capacidad de conducta verbal en niños con diferentes niveles de apoyo al TEA. MÉTODO: Se evaluaron once niños diagnosticados con autismo, con edades entre 2 y 7 años y que presentaban diversidad entre sí en cuanto al nivel de apoyo al TEA. Para investigar su repertorio comunicativo, fueron evaluados mediante un instrumento desarrollado por un equipo de profesionales especializados, investigando el comportamiento no verbal, ecoico, de mando, tacto e intraverbal en tres intentos. RESULTADOS: A pesar del pequeño número de participantes, los resultados indicaron que los pacientes en el nivel 3 de apoyo tienen un mayor deterioro en la comunicación en comparación con los demás. El estudio destacó la importancia del cribado de habilidades conductuales para una planificación más eficaz de la intervención y la evolución clínica concomitante, respetando así las particularidades y singularidades de cada persona del espectro. CONCLUSIÓN: Se concluye la importancia del análisis conductual y la investigación detallada de cada paciente, para que las intervenciones estén enfocadas a sus necesidades reales.

Demanda de cuidado nutricional de crianças com transtorno do espectro autista em uma região de acesso remoto / Demandas de atención nutricional de niños con trastorno del espectro autista en una región de acceso remoto / Nutritional care demands of children with autism spectrum disorder in a remote access region

Introdução: O transtorno do espectro autista é uma condição neuropsiquiátrica que demanda atenção interdisciplinar e multiprofissional. A abordagem nutricional é necessária frente aos possíveis sintomas associados, como seletividade alimentar e alterações do hábito intestinal. Famílias residentes em locais de acesso limitado à serviços de saúde podem possuir dificuldades para o adequado acompanhamento. Objetivo: Relatar a experiência de atendimentos em nutrição realizados pela Liga Acadêmica de Nutrição e Saúde Coletiva a crianças com transtorno do espectro autista explorando as principais demandas identificadas e enfrentadas em uma região de acesso remoto. Metodologia: Abordagem descritiva, do tipo relato de experiência, de atendimentos realizados no município de Coari, interior do Amazonas. Os encontros foram realizados com vista a identificar demandas e refletir sobre a melhor maneira de auxiliar as crianças com essas comorbidades. Resultados: Foram atendidas 9 crianças, nem todas com o diagnóstico fechado. Seletividade alimentar, distúrbios gastrointestinais e excesso de peso foram desafios recorrentes. Nota-se a carência da percepção da importância do acompanhamento nutricional, em um cenário de relatos importantes sobre as dificuldades no acesso a medicações, por falta no município ou por ausência de recursos para aquisição, assim como terapias especializadas. Aspectos que se tornam ainda mais desafiadores frente à distância geográfica e carência de profissionais especializados e que realizem uma atenção multiprofissional. Conclusões: O acompanhamento nutricional adequado é essencial para atender às necessidades específicas e melhorar a qualidade de vida dessas crianças. Diante das limitações identificadas na região, são necessários esforços contínuos para desenvolver soluções que garantam uma assistência inclusiva e eficaz às crianças com transtorno do espectro autista no interior do Amazonas. A colaboração entre instituições, a conscientização da comunidade e o fortalecimento da rede de saúde local são cruciais para promover uma abordagem abrangente e de alta qualidade para essas crianças e suas famílias (AU).

Introduction: Autism spectrum disorder is a neuropsychiatric condition that demands interdisciplinary and multidisciplinary attention. Nutritional intervention is necessary in the face of possible associated symptoms, such as food selectivity and changes in bowel habits. Families living in places with limited access to health services may have difficulties in obtaining adequate support and follow-up.Objective: Reporting the experience of nutrition services provided by the Academic League of Nutrition and Public Health to children with autism spectrum disorder, exploring the main identified demands and challengesfaced in a remote access region. Methodology:Descriptive approach, experience of an report, of services provided in the municipality of Coari, in the interiorof Amazonas. The meetings were held with the aim identifying demands and reflecting on the best way to assistchildren with these comorbidities. Results: Ninechildren attended to, not all with a confirmed diagnosis. Food selectivity, gastrointestinal disorders and overweight were recurring challenges. There is a lack of perception of the importance of nutritional monitoring, in a scenario where there areimportant reportsofdifficulties in accessing medications, either due to lack of availability in the municipality or lack of resources for acquisition, as well as specialized therapies. Theseaspects become even more challenging given the geographical distance and scarcity of specialized professionals whocanprovide multidisciplinary care. Conclusions: Adequate nutritional monitoring is essential to meet the specific needs and improve the quality of life of these children. Given the limitations identified in the region, continuous efforts are needed to develop solutions that guarantee inclusive and effective assistance for children with autism spectrum disorder in the interior of Amazonas. Collaboration between institutions, community awareness, and strengthening the local health network are crucial to promoting a comprehensive, high-quality approach for these children and their families (AU).

Introducción: El trastorno del espectro autista es una condiciónneuropsiquiátrica que requiere atención interdisciplinaria y multidisciplinaria. El enfoque nutricionales frente a losposibles síntomas, como selectividad alimentaria y alteraciones delhábitosintestinales. Las familias que viven en lugares con accesolimitado a los servicios de salud pueden tener dificultades para recibir un seguimiento adecuado. Objetivo: Reportar la experiencia de los servicios de nutrición brindados por la Liga Académica de Nutrición y Salud Pública a niños con trastorno del espectro autista, explorando las principales demandas identificadas y enfrentadas en una región de acceso remoto.Metodología: Enfoque descriptivo, relato de experiencia, de los servicios prestados en Coari, en el interior de Amazonas. Los encuentros se realizaron con el objetivo de identificar demandas y reflexionar sobre la mejor manera de ayudar. Resultados:Se atendieron 9 niños, no todos con diagnóstico confirmado. Selectividad alimentaria, trastornos gastrointestinales y exceso de peso fueron desafíos recurrentes. Se observa una falta percepción de la importancia del seguimiento nutricional, en un escenario de informes importantes sobre las dificultades en el acceso a medicamentos, debido a lafaltade suministro en el municipio o a la falta de recursos para su adquisición, así como terapias especializadas. Estosaspectos que se vuelven aún más desafiantes dada la distancia geográfica y falta de profesionales especializados que brinden una atención multidisciplinaria.Conclusiones: Un adecuado seguimiento nutricional es fundamental para satisfacerlas necesidades específicas y mejorar la calidad de vida de estos niños. Antelas limitaciones identificadas, se necesitan esfuerzos continuos para desarrollar soluciones que garanticen una atención inclusiva y efectiva estosniños en el interior de Amazonas. Colaboración entre instituciones, concientización comunitaria y fortalecimiento de la red de salud local son cruciales para promover un enfoque integral y de alta calidad para estos niños com trastorno del espectro autista y sus familias (AU).

Transtorno do Espectro Autista e Transtorno Desafiante de Oposição: Dificuldades no diagnostico / Transtorno del Espectro Autista y Trastorno Negativista Desafiante: Dificultades en el diagnóstico / Autism Spectrum Disorder and Oppositional Defiant Disorder: Difficulties in diagnosis

Introdução: O Transtorno do Espectro Autista e Transtorno Desafiante de Oposição, são desordens comumente diagnosticadas em indivíduos ainda na infância. Objetivo: Identificar possíveis fatores dificultadores no diagnóstico diferencial dos referidos transtornos. Metodologia: Foi realizada uma revisão integrativa da literatura, a qual selecionou artigos nas bases de dados Biblioteca Virtual de Saúde, periódico Coordenação de Aperfeiçoamento de Pessoal de Nível Superior e Periódicos Eletrônicos de Psicologia entre os meses de setembro e outubro de 2021. Para tanto, foram utilizadas as palavras chaves Transtorno do Espectro Autista, autismo, Transtorno Desafiante de Oposição, Transtorno Opositor Desafiador, diagnóstico, comorbidades, comportamentos disruptivos e dificuldades diagnósticas. Resultados: Oito artigos foram selecionados para extração de dados. O diagnóstico correto desses transtornos pode ser desafiador devido à sobreposição de sinais com outros transtornos e comorbidades, bem como à diversidade presente no espectro autista e à variedade de manifestações dos transtornos disruptivos. Além disso, a maioria dos estudos destacam os prejuízos na área da comunicação, o comprometimento na área social e os graus de severidade, como sendo características semelhantes entre os dois transtornos, podendo serem possíveis fatores que podem dificultar no diagnóstico do Transtorno do Espectro Autista e Transtorno Desafiante de Oposição, de maneira diferencial ou concomitante. Conclusões: O número de pesquisas relacionadas aos transtornos citados acima é inferior ao que se faz necessário para melhor conhecimento sobre o tema. No que diz respeito as pesquisas de materiais científicos, foram encontradas dificuldades para obtenção de estudos que estivessem de acordo com a nossa pesquisa. Com isso, faz-se necessário mais pesquisas que tentem investigar e compreender o porquê da escassez de material que estudem tais diagnósticos de maneira concomitante (AU).

Introduction: Autism Spectrum Disorder and Oppositional Defiant Disorderare disorders commonly diagnosed in individuals in childhood. Objective:Identify possible factors that hinder the differential diagnosis of these disorders. Methodology:An integrative review of the literature was carried out, which selected articles from the Virtual Health Library databases, Coordination for the Improvement of Higher Education Personnel journal and Electronic Psychology Journalsdatabases between the months of September and October 2021. To this end, the keywords Autistic Spectrum Disorder, autism, Disorder Defiant Disorder, Opposition, Oppositional Defiant Disorder, diagnosis, comorbidities, disruptive behaviors and diagnostic difficulties.Results:Eight articles were selected for data extraction. Correctly diagnosing these disorders can be challenging due to overlapping signs with other disorders and comorbidities, as well as the diversity present in the autism spectrum and the variety of manifestations of disruptive disorders. Furthermore, most studies highlight losses in the area of communication, impairment in the social area and degrees of severity, as being similar characteristics between the two disorders, and may be possible factors that can make it difficult to diagnose Autism Spectrum Disorder and Oppositional Defiant Disorder, differentially or concomitantly. Conclusions:The number of studies related to the disorders mentioned above is lower than what is needed for a better understanding of the subject. With regard to research on scientific materials, difficulties were encountered in obtaining studies that were in accordance with our research. With this, more research is needed to try to investigate and understand the reason for the scarcity of material that studies such diagnoses concomitantly (AU).

Introducción: El Trastorno del Espectro Autista y el Trastorno Negativista Desafiante son trastornos comúnmente diagnosticados en individuos en la infancia. Objetivo: Identificar posibles factores que puedan dificultar el diagnóstico diferencial de los trastornos antes mencionados.Metodología:Se realizó una revisión integrativa de la literatura, que seleccionó artículos en las bases de datos Biblioteca Virtual en Salud, revista Coordinación para el Perfeccionamiento del Personal de Educación Superior y Revistas Electrónicas de Psicología entre septiembre y octubre de 2021. Para ello, se utilizaron las palabras clave Trastorno del espectro autista, autismo, Trastorno negativista desafiante, Trastorno negativista desafiante, diagnóstico, comorbilidades, conductas disruptivas y dificultades diagnósticas. Resultados: Se seleccionaron ocho artículos para la extracción de datos. El diagnóstico correcto de estos trastornos puede ser un desafío debido a la superposición de síntomas con otros trastornos y comorbilidades, así como a la diversidad presente en el espectro del autismo y la variedad de manifestaciones de los trastornos disruptivos. Además, la mayoría de los estudios destacan las deficiencias en el área de la comunicación, la deficiencia en el área social y los grados de gravedad, como características similares entre ambos trastornos, que pueden ser posibles factores que dificulten el diagnóstico del Trastorno del Espectro Autista y Trastorno de Oposición Desafiante, ya sea de forma diferencial o concomitante. Conclusiones: El número de estudios relacionados con los trastornos antes mencionados es inferior al necesario para una mejor comprensión del tema. En cuanto a la investigación sobre materiales científicos, se encontraron dificultades para obtener estudios que estuvieran de acuerdo con nuestra investigación. Con esto, se necesita más investigación para tratar de investigar y comprender la razón de la escasez de material que estudie dichos diagnósticos de forma concomitante (AU).

Goal attainment scaling and quality of life of autistic children receiving speech and language therapy in a higher educational institution in the Philippines

Objectives@#This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines.@*Methods@#Deidentified data from 18 autistic children aged 4–16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented. @*Results@#Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1–2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively.@*Conclusions@#While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.

Perfil de atos comunicativos de crianças com transtorno do desenvolvimento de linguagem / Profile of communicative acts of children with developmental language disorder

RESUMO Objetivo Caracterizar os atos comunicativos de crianças com transtorno do desenvolvimento da linguagem, verificando a quantidade de atos comunicativos, atos comunicativos interativos e sua relação com a idade cronológica. Métodos Foram participantes 40 crianças de ambos os gêneros com diagnóstico de transtorno do desenvolvimento da linguagem com idades entre 3 anos e 2 meses e 7 anos e 11 meses. Todos os sujeitos foram avaliados com a Prova de Pragmática ABFW - Teste de Linguagem Infantil, em sua avaliação inicial. Especificamente para este estudo, focou-se na verificação da quantidade de atos comunicativos, atos comunicativos por minuto, atos comunicativos interativos e número de iniciativas comunicativas. Resultados Os dados indicaram que crianças com transtorno do desenvolvimento da linguagem apresentam alterações importantes em relação aos atos comunicativos e interações comunicativas e há correlação dessas variáveis com a idade cronológica. Conclusão Crianças com transtorno do desenvolvimento da linguagem apresentam diminuição no número de atos comunicativos, atos comunicativos interativos e interações comunicativas, quando comparadas aos valores de referência de crianças típicas, independentemente da idade.

ABSTRACT Purpose To characterize the communicative acts of children with Developmental Language Disorder, verifying the number of communicative acts, interactive communicative acts, and their relationship with chronological age. Methods Forty children of both sexes with a diagnosis of Developmental Language Disorder aged between 3 years and seven years and 11 months were subjects. All subjects were assessed with the ABFW Pragmatics Test - Child Language Test in their initial assessment. Specifically, this study focused on verifying the number of communicative acts, communicative acts per minute, interactive communicative acts, and the number of communicative initiatives. Results The data indicate that children with Developmental Language Disorder present significant alterations concerning communicative acts and communicative interactions, and there is a correlation between these variables and chronological age. Conclusion Children with Developmental Language Disorder show a decrease in the number of communicative acts, interactive communicative acts, and communicative interactions when compared to the reference values of typical children, regardless of age.

Factores asociados al diagnóstico tardío del Trastorno del Espectro Autista / Factors associated with delayed diagnosis of Autism Spectrum Disorder

El trastorno del espectro autista (TEA) es una condición crónica del neurodesarrollo caracterizada por déficits persistentes en la comunicación e interacción social y un patrón de intereses restringidos y/o comportamientos repetitivos que pueden afectar el funcionamiento del individuo en la vida diaria familiar y comunitaria. El diagnóstico oportuno intenta mejorar la trayectoria, reducir el impacto funcional y disminuir los efectos de condiciones médicas asociadas. El diagnóstico tardío de TEA es considerado como aquel realizado luego de los 6 años de edad, en coincidencia con el fin de la escolaridad inicial. Si bien esta edad puede resultar arbitraria lo que se busca es una generalización de aquellos casos en los que probablemente hubo múltiples pérdidas de oportunidades diagnósticas y terapéuticas. Objetivo: Reflexionar sobre los determinantes del diagnóstico tardío del TEA con el fin de proponer posibles soluciones a esta problemática. Desarrollo: A partir de tres viñetas clínicas de pacientes que recibieron el diagnóstico en nuestro servicio, luego de los 6 años de edad, nos proponemos identificar y analizar aquellos factores (motivos sociodemográficos, problemas organizacionales, en la etapa de evaluación diagnóstica, respecto al género, cuidadores/ familiares y características clínicas) que determinan la demora diagnóstica. Conclusiones: El diagnóstico tardío del TEA es una problemática compleja y multifactorial, que implica desafíos significativos en el desarrollo de los NNyA con esta condición, sus familias y su entorno. Es importante considerar las causas que demoran el diagnóstico, desde el ámbito clínico, familiar y socio-ambiental para poder intervenir oportunamente (AU)

Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition characterized by persistent deficits in communication and social interaction and a pattern of restricted interests and/or repetitive behaviors that can affect the individual's daily functioning both at home and in the community. Early diagnosis is important to improve the developmental trajectory, reduce functional impairment, and decrease the impact of comorbid medical conditions. Delayed diagnosis of ASD is defined as a diagnosis made after the age of 6 years, coinciding with the end of preschool. Although this age may be arbitrary, it serves to encompass cases in which there were probably multiple missed diagnostic and therapeutic opportunities. Objective: To explore the causes of late diagnosis of ASD in order to propose possible solutions to this problem. Development: Based on three clinical vignettes of patients who were diagnosed at our department after 6 years of age, we aimed to identify and analyze factors influencing diagnostic delays. These factors included sociodemographic causes, organizational challenges, issues during the diagnostic workup, considerations related to gender, caregivers/families, and clinical characteristics. Conclusions: Delayed diagnosis of ASD is a complex and multifactorial problem leading to significant challenges in the development of children and adolescents with this condition as well as their families and their environment. Identification of the causes of diagnostic delay is important from the clinical, family and socio-environmental point of view, in order to start timely interventions (AU)

Assistance to families of children with Autism Spectrum Disorders: Perceptions of the multiprofessional team / Assistência às famílias de crianças com Transtornos do Espectro Autista: percepções da equipe multiprofissional / Asistencia a familias de niños con Trastornos del Espectro Autista: percepciones del equipo multidisciplinario

Abstract Objective: to synthesize the care provided by health professionals, at different care levels, to the families of children with Autism Spectrum Disorders. Method: a qualitative study, based on the Family-Centered Care philosophical theoretical framework and developed with 22 professionals from three multidisciplinary teams from the Health Care Network of a municipality in the state of Mato Grosso do Sul, Brazil. The data were collected through two focus groups with each team, organized with the support of the Atlas.ti 8 Qualitative Data Analysis® software and submitted to Thematic Content Analysis. Results: the findings show actions centered on specific situations, especially on the demands and needs arising from the child's care and atypical behavior. Influencing factors for family care, such as work overload and little professional experience, show the weakness of multiprofessional care and the invisibility of the family as a care unit. Conclusion: the need is highlighted to review functioning of the network for the multiprofessional care of children and their families and how such network is organized. It is recommended to offer permanent education actions that contribute to the qualification of multiprofessional teams in the care of families of children in the autism spectrum.

Resumo Objetivo: sintetizar o cuidado prestado por profissionais de saúde, nos diferentes níveis de atenção, às famílias de crianças com Transtornos do Espectro Autista. Método: estudo qualitativo, baseado no referencial teórico filosófico do Cuidado Centrado na Família, desenvolvido com 22 profissionais de três equipes multidisciplinares de serviços da Rede de Atenção à Saúde de um município do estado de Mato Grosso do Sul, Brasil. Os dados foram coletados por meio de dois grupos focais com cada equipe, organizados com apoio do software Atlas.ti 8 Qualitative Data Analysis e submetidos à Análise Temática de Conteúdo. Resultados: as descobertas mostram ações centradas em situações pontuais, principalmente nas demandas e necessidades advindas do cuidado da criança e de seu comportamento atípico. Fatores influenciadores para o cuidado à família, como a sobrecarga de trabalho e a pouca experiência profissional, evidenciam a fragilidade da assistência multiprofissional e a invisibilidade da família enquanto unidade de cuidado. Conclusão: destaca-se a necessidade de rever o funcionamento e modo como a rede para o cuidado multiprofissional da criança e sua família está organizada. Recomenda-se a oferta de ações de educação permanente que contribuam com a qualificação das equipes multiprofissionais no cuidado às famílias de crianças no espectro do autismo.

Resumen Objetivo: resumir la atención que brindan los profesionales de la salud, en los diferentes niveles de atención, a las familias de niños con Trastornos del Espectro Autista. Método: estudio cualitativo, basado en el marco teórico filosófico de la Atención Centrada en la Familia, desarrollado con 22 profesionales de tres equipos multidisciplinarios de servicios de la Red de Atención de la Salud en un municipio del estado de Mato Grosso do Sul, Brasil. Los datos fueron recolectados a través de dos grupos focales con cada equipo y organizados con la ayuda del software Atlas.ti 8 Qualitative Data Analysis ® y sometidos al Análisis de Contenido Temático. Resultados: los hallazgos muestran acciones enfocadas en situaciones específicas, principalmente en las demandas y necesidades que genera el cuidado del niño y su comportamiento atípico. Factores que influyen en la atención a la familia, como la sobrecarga de trabajo y la poca experiencia profesional, revelan las falencias que tiene la asistencia multidisciplinaria y la invisibilidad de la familia como unidad de atención. Conclusión: es necesario examinar el funcionamiento y la forma en que está organizada la red para la atención multidisciplinaria de los niños y sus familias. Se recomienda implementar acciones de educación continua que contribuyan a la capacitación de los equipos multidisciplinarios para la atención a las familias de niños con espectro autista.

Mercurio y trastornos del neurodesarrollo en niños: una revisión sistemática / Mercury and neurodevelopmental disorders in children: A systematic review

El mercurio es un metal tóxico que puede atravesar la placenta y la barrera hematoencefálica, y causar la interrupción de varios procesos celulares. Estudios han investigado la exposición al mercurio y trastornos en el neurodesarrollo, por lo que se requiere un análisis crítico y riguroso de esta evidencia. El objetivo de esta revisión fue evaluar la evidencia científica disponible sobre los efectos de la exposición al mercurio durante las etapas prenatal y posnatal, y su relación con el desarrollo de trastornos neuroconductuales. Se realizó una búsqueda sistemática en las bases de datos MEDLINE y ScienceDirect; los resultados se presentaron a través de tablas y síntesis narrativa. Solo 31 estudios cumplieron los criterios de elegibilidad. En general, la evidencia es limitada sobre los efectos de la exposición al mercurio y trastornos del neurodesarrollo en niños. Entre los posibles efectos reportados, se hallan problemas en el aprendizaje, autismo y trastorno por déficit de atención e hiperactividad.

Mercury is a toxic metal which can cross the placenta and the blood-brain barrier and cause the disruption of various cellular processes. Studies have investigated mercury exposure and neurodevelopmental disorders; therefore, a critical and rigorous analysis of this evidence is required. The objective of this review was to evaluate the available scientific evidence on the effects of mercury exposure during the prenatal and postnatal periods and its relationship with the development of neurobehavioral disorders. A systematic search of the MEDLINE and ScienceDirect databases was conducted; the results were presented in tables and narrative synthesis. Only 31 studies met the eligibility criteria. Overall, the evidence on the effects of mercury exposure and neurodevelopmental disorders in children is limited. Learning disabilities, autism, and attention deficit hyperactivity disorder were some of the reported potential effects.

Dinâmica Relacional das Redes Sociais Significativas de Mães de Filhos com Transtorno do Espectro Autista / Relational Dynamics of Meaningful Social Networks of Mothers of Children with Autism Spectrum Disorder / Dinámica Relacional de Redes Sociales Significativas de Madres de Niños con Trastorno del Espectro Autista

O diagnóstico de um filho com Transtorno do Espectro Autista se configura como evento estressor para a família, especialmente para as mães, podendo trazer implicações relacionais, sociais e emocionais para estas. Este estudo buscou compreender as repercussões do diagnóstico de TEA na dinâmica relacional das redes sociais significativas maternas. Trata-se de estudo qualitativo, descritivo e exploratório, do qual participaram 12 mães de filhos com TEA. Os dados foram coletados através de entrevistas reflexivas e do mapa de redes sociais significativas, analisados por meio da Teoria Fundamentada nos Dados. Identificou-se uma diminuição do número de vínculos nas redes sociais significativas das participantes após o diagnóstico do filho. Nas relações familiares, houve aumento de vínculos, embora as mães não se sentissem suficientemente apoiadas; nas relações extrafamiliares, houve diminuição de membros, mas observou-se a presença de apoio satisfatório entre alguns vínculos situados nesse contexto. Conclui-se que, para que a rede possa ser efetiva no oferecimento de apoio social, é preciso conjugar a disponibilidade materna para receber apoio e o preparo dos membros das redes sociais para manejar as especificidades do TEA. Assim, sugere-se maior investimento na instrumentalização das redes sociais significativas para acolhimento do processo vivenciado por mães de filhos com TEA.

The diagnosis of a child with Autism Spectrum Disorder is configured as a stressful event for the family, especially for mothers, and may have relational, social and emotional implications for them. This study aimed to understand the repercussions of ASD diagnosis on the relational dynamics of significant maternal social networks. This is a qualitative, descriptive and exploratory study, in which 12 mothers of children with ASD participated. Data were collected through reflective interviews and the significant social networks map, analyzed using Grounded Theory. A decrease in the number of members in the participants' significant social networks was identified after their child's diagnosis. In family relationships, there was an increase in members, although the mothers did not feel sufficiently supported; there was a decrease in the number of members in extra-family relationships, but the presence of satisfactory support was observed in some members located in this context. It is concluded that, for the network to be effective in offering social support, it is necessary to combine maternal availability to receive support and preparation of social networks members to handle the specificities of the ASD. Thus, greater investment is suggested in the instrumentalization of significant social networks to nurse the process experienced by mothers of children with ASD.

El diagnóstico de un niño con Trastorno del Espectro Autista se configura como evento estresante para la familia, especialmente para madres, pudiendo tener implicaciones relacionales, sociales y emocionales para ellas. Este estudio buscó comprender las repercusiones del diagnóstico de TEA en la dinámica relacional de redes sociales significativas maternas. Se trata de un estudio cualitativo, descriptivo y exploratorio, en que participaron 12 madres de niños con TEA. Los datos fueron colectados mediante entrevistas reflexivas y mapa de redes sociales significativas, analizados utilizando Grounded Theory. Se identificó una disminución del número de miembros en las redes sociales significativas de las participantes después del diagnóstico del hijo. En las relaciones familiares, hubo aumento de miembros, aunque las madres no sintieron apoyo suficiente; en las relaciones extrafamiliares, hubo una disminución de miembros, pero se observó la presencia de apoyo satisfactorio entre algunos vínculos situados en este contexto. Se concluye que, para que la red sea efectiva en ofrecer apoyo social, es necesario combinar disponibilidad materna para recibir apoyo y preparación de los miembros de las redes sociales para manejar especificidades del TEA. Se sugiere una mayor instrumentalización de redes sociales significativas para acoger el proceso vivido por madres de niños con TEA.

Concordancia entre el estado nutricional objetivo y percibido por padres de niños con Trastorno de Espectro Autista (TEA) / Concordance between the objective nutritional status and perceived by parents of children with Autism Spectrum Disorder (ASD)

Introducción. El Trastorno del espectro autista (TEA) engloba un grupo de trastornos que afectan el desarrollo infantil. Además del desarrollo neurológico, el aspecto nutricional es uno de los más afectados. En ocasiones esta alteración pasa desapercibida debido a la percepción alterada del estado nutricional (EN) que tienen los progenitores del niño. Objetivo. Determinar la concordancia entre el estado nutricional objetivo y percibido por padres de niños con TEA que asisten a la Asociación Esperanza para el Autismo, en la ciudad de Asunción, de junio a setiembre del 2018. Materiales y métodos. Estudio observacional, descriptivo, de corte trasverso, muestreo no probabilístico por conveniencia. Participaron 29 padres de 29 niños. Se utilizó un cuestionario para determinar hábitos de alimentación. Para determinar la percepción del EN se empleó la Escala de Warschburger-Kröller (2009) y la Children's Body Image Scale (2012) Se evaluó concordancia entre lo percibido y observado mediante el Índice de Kappa. Resultados. Predominó el sexo masculino (86%), y participaron 23 madres. La media de edad de los niños fue de 4,7 años, y de los progenitores 36 años. El 56% de los niños (< 5 años) presentó un estado nutricional adecuado, mientras que el 53% de los mayores de 5 años presentó obesidad. Se observó una ligera concordancia entre la percepción de los padres y el estado nutricional objetivo. Conclusión.la educación nutricional a los padres de niños con TEA es fundamental para mejorar el estado nutricional actual, y permitir una percepción más cercana a la objetiva. Palabras Clave: percepción; niño; estado nutricional; educación especial; trastorno autístico

Introduction. Autism Spectrum Disorder (ASD) encompasses a group of disorders that affect child development. In addition to neurological development, the nutritional aspect is one of the most affected. Sometimes this alteration goes unnoticed due to the altered perception of the nutritional status that the parents of the child have. Objective.Determine the concordance between the objective nutritional status and that perceived by parents of children with ASD who attend the Esperanza para el Autismo Association, in the city of Asunción, Paraguay, from June to September 2018. Materials and methods. observational, descriptive, cross-sectional study, non-probability sampling for convenience. 29 parents of 29 children participated. A questionnaire was used to determine eating habits. To determine the perception of the nutritional status, the Warschburger-Kröller Scale (2009) and the Children's Body Image Scale (2012) were used. Concordance between what was perceived and observed was evaluated using the Kappa Index.Results.the male sex predominated (86%), and 23 mothers participated. The mean age of the children was 4.7 years, and the parents 36 years. 56% of the children (<5 years) presented an adequate nutritional status, while 53% of those older than 5 years presented obesity. A slight concordance was observed between the perception of the parents and the objective nutritional status.Conclusion.nutritional education for parents of children with ASD is essential to improve the current nutritional status, and allow a perception closer to the objective. Key words: hypertension; blood pressure; treatment adherence and compliance; epidemiology

Identification of de novo Mutations in the Chinese Autism Spectrum Disorder Cohort via Whole-Exome Sequencing Unveils Brain Regions Implicated in Autism / 神经科学通报·英文版

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder characterized by deficits in social interactions and repetitive behaviors. Although hundreds of ASD risk genes, implicated in synaptic formation and transcriptional regulation, have been identified through human genetic studies, the East Asian ASD cohorts are still under-represented in genome-wide genetic studies. Here, we applied whole-exome sequencing to 369 ASD trios including probands and unaffected parents of Chinese origin. Using a joint-calling analytical pipeline based on GATK toolkits, we identified numerous de novo mutations including 55 high-impact variants and 165 moderate-impact variants, as well as de novo copy number variations containing known ASD-related genes. Importantly, combined with single-cell sequencing data from the developing human brain, we found that the expression of genes with de novo mutations was specifically enriched in the pre-, post-central gyrus (PRC, PC) and banks of the superior temporal (BST) regions in the human brain. By further analyzing the brain imaging data with ASD and healthy controls, we found that the gray volume of the right BST in ASD patients was significantly decreased compared to healthy controls, suggesting the potential structural deficits associated with ASD. Finally, we found a decrease in the seed-based functional connectivity between BST/PC/PRC and sensory areas, the insula, as well as the frontal lobes in ASD patients. This work indicated that combinatorial analysis with genome-wide screening, single-cell sequencing, and brain imaging data reveal the brain regions contributing to the etiology of ASD.

WDR62-deficiency Causes Autism-like Behaviors Independent of Microcephaly in Mice / 神经科学通报·英文版

Brain size abnormality is correlated with an increased frequency of autism spectrum disorder (ASD) in offspring. Genetic analysis indicates that heterozygous mutations of the WD repeat domain 62 (WDR62) are associated with ASD. However, biological evidence is still lacking. Our study showed that Wdr62 knockout (KO) led to reduced brain size with impaired learning and memory, as well as ASD-like behaviors in mice. Interestingly, Wdr62 Nex-cKO mice (depletion of WDR62 in differentiated neurons) had a largely normal brain size but with aberrant social interactions and repetitive behaviors. WDR62 regulated dendritic spinogenesis and excitatory synaptic transmission in cortical pyramidal neurons. Finally, we revealed that retinoic acid gavages significantly alleviated ASD-like behaviors in mice with WDR62 haploinsufficiency, probably by complementing the expression of ASD and synapse-related genes. Our findings provide a new perspective on the relationship between the microcephaly gene WDR62 and ASD etiology that will benefit clinical diagnosis and intervention of ASD.

Inhalation of Cananga odorata essential oil relieves anxiety behaviors in autism-like rats via regulation of serotonin and dopamine metabolism / 中西医结合学报

OBJECTIVE@#Anxiety is one of the most common symptoms associated with autistic spectrum disorder. The essential oil of Cananga odorata (Lam.) Hook. f. & Thomson, usually known as ylang-ylang oil (YYO), is often used in aromatherapy as a mood-regulating agent, sedative, or hypotensive agent. In the present study, the effects and mechanisms of YYO in alleviating anxiety, social and cognitive behaviors in autism-like rats were investigated.@*METHODS@#The prenatal valproic acid (VPA) model was used to induce autism-like behaviors in offspring rats. The effectiveness of prenatal sodium valproate treatment (600 mg/kg) on offspring was shown by postnatal growth observation, and negative geotaxis, olfactory discrimination and Morris water maze (MWM) tests. Then three treatment groups were formed with varying exposure to atomized YYO to explore the effects of YYO on the anxiety, social and cognitive behaviors of the autistic-like offspring through the elevated plus-maze test, three-chamber social test, and MWM test. Finally, the monoamine neurotransmitters, including serotonin, dopamine and their metabolites, in the hippocampus and prefrontal cortex (PFC) of the rats were measured using a high-performance liquid chromatography.@*RESULTS@#Offspring of VPA exposure rats showed autism-like behaviors. In the VPA offspring, medium-dose YYO exposure significantly elevated the time and entries into the open arms in the elevated plus-maze test, while low-dose YYO exposure significantly enhanced the social interaction time with the stranger rat in session 1 of the three-chamber social test. VPA offspring treated with YYO exposure used less time to reach the platform in the navigation test of the MWM test. YYO exposure significantly elevated the metabolism of serotonin and dopamine in the PFC of VPA offspring.@*CONCLUSION@#YYO exposure showed the effects in alleviating anxiety and improving cognitive and social abilities in the offspring of VPA exposure rats. The role of YYO was related to the regulation of the metabolism of serotonin and dopamine. Please cite this article as: Zhang N, Wang ST, Yao L. Inhalation of Cananga odorata essential oil relieves anxiety behaviors in autism-like rats via regulation of serotonin and dopamine metabolism. J Integr Med. 2023; 21(2): 205-214.

Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).@*METHODS@#A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.

Re-evaluation of systematic reviews of acupuncture and moxibustion for childhood autism / 中国针灸

OBJECTIVE@#To re-evaluate the systematic review/Meta-analysis of acupuncture and moxibustion for childhood autism (CA), aiming to provide decision-making basis for clinical diagnosis and treatment.@*METHODS@#The systematic review and/or Meta-analysis of acupuncture and moxibustion for CA were searched in PubMed, EMbase, Cochrane Library, SinoMed, CNKI and Wanfang databases. The retrieval time was from the database establishment to May 5th, 2022. PRISMA (preferred reporting items for systematic reviews and Meta-analyses) was used to evaluate the report quality, and AMSTAR 2 (a measurement tool to assess systematic reviews 2) was used to evaluate the methodological quality, bubble map was used to construct the evidence map and GRADE was used to evaluate the quality of evidence.@*RESULTS@#A total of 9 systematic reviews were included. The PRISMA scores ranged from 13 to 26. The report quality was low, and there was a serious lack in the aspects of program and registration, search, other analysis and funding. The main problems in methodology included not making prespecified protocol, incomplete retrieval strategy, not providing a list of excluded literatures, and incomplete explanation on heterogeneity analysis and bias risk. The evidence map showed that 6 conclusions were valid, 2 conclusions were possible valid and 1 conclusion was uncertain valid. The overall quality of evidence was low, and the main factors leading to the downgrade were limitations, followed by inconsistency, imprecision and publication bias.@*CONCLUSION@#Acupuncture and moxibustion has a certain effect for CA, but the quality of reporting, methodology and evidence in included literature need to be improved. It is suggested to perform high-quality and standardized research in the future to provide evidence-based basis.

Leaky Gut Plays a Critical Role in the Pathophysiology of Autism in Mice by Activating the Lipopolysaccharide-Mediated Toll-Like Receptor 4-Myeloid Differentiation Factor 88-Nuclear Factor Kappa B Signaling Pathway / 神经科学通报·英文版

Increased intestinal barrier permeability, leaky gut, has been reported in patients with autism. However, its contribution to the development of autism has not been determined. We selected dextran sulfate sodium (DSS) to disrupt and metformin to repair the intestinal barrier in BTBR T+tf/J autistic mice to test this hypothesis. DSS treatment resulted in a decreased affinity for social proximity; however, autistic behaviors in mice were improved after the administration of metformin. We found an increased affinity for social proximity/social memory and decreased repetitive and anxiety-related behaviors. The concentration of lipopolysaccharides in blood decreased after the administration of metformin. The expression levels of the key molecules in the toll-like receptor 4 (TLR4)-myeloid differentiation factor 88 (MyD88)-nuclear factor kappa B (NF-κB) pathway and their downstream inflammatory cytokines in the cerebral cortex were both repressed. Thus, "leaky gut" could be a trigger for the development of autism via activation of the lipopolysaccharide-mediated TLR4-MyD88-NF-κB pathway.

Early death and causes of death of patients with autism spectrum disorders: A systematic review / 北京大学学报(医学版)

To study of premature/early death of autistic patients from the perspective of life course can help families, medical institutions and policy makers better deal with the adverse effects of autism. Several studies have shown that autistic patients have a high risk of death, however, the results are still inconsistent. To assess the risk of mortality among the autistic patients, we undertook a comprehensive search of MEDLINE, Web of Science and EMBASE databases. This paper reviewed the studies on the negative disease outcomes of autism spectrum disorders, including the risk of death, causes of death and several research hotspots in this field. Strict inclusion/exclusion criteria were used. Information was extracted from selected papers, tabulated and synthesized. In the study, 15 studies were included, with a total of 216 045 individuals. The main outcome was all-cause mortality in association with autism and the secondary outcome was cause-specific mortality. The results showed that all-cause mortality was higher for the autistic patients (RR=2.32, 95%CI: 1.98-2.72, I2=87.1%, P < 0.001). Risk ratio showed a greater inequality for female than male (male: RR=2.00, 95%CI: 1.57-2.55, I2=93.2%, P < 0.001; female: RR=4.66, 95%CI: 3.30-6.58, I2=92.0%, P < 0.001). Compared with the unnatural death, the risk of natural death was higher (RR=3.44, 95%CI: 1.27-9.26, I2=80.2%, P=0.025). As autism had many comorbidities, which would bring more health risks and natural deaths possibilities. There were some structural differences in unnatural death. Accidental injury death and suicide were two kinds of causes. Lacking social skills would weaken the ability to ask for help when encountering injuries. This paper put forward some suggestions for futures. First, to well study the comorbidity can reduce the risk of death from a medical point of view. Second, the scientists and policymakers should pay attention to the social environment and provide a safer environment for the autistic patients. Third, for women and for adolescents without cognitive impairment, due to their high risk of suicide, the society should provide them with more supportive social networks and improve their life satisfaction. Fourth, it is necessary to balance the rehabilitation resources in various regions in China and provide more high-quality lifelong rehabilitation monitoring and care services.

"Amanhã você estará aqui?" O trabalho com objetos em uma instituição para crianças com dificuldades no laço social / « Est-ce que demain tu seras là? ¼ Le travail à partir des objets dans une institution pour enfants en difficulté au niveau du ien social / "Will you be here tomorrow?" The work with objects in an institution for children with social bond difficulties / "¿Estarás aquí mañana?"El trabajo con los objetos en una institución para niños con dificultades en el lazo social

Este artigo trata de uma experiência institucional de estágio no Institut Médico Pédagogique Notre Dame de la Sagesse, também conhecido como Le Courtil. O Courtil é uma instituição belga que acolhe crianças e jovens com impasses no laço social. A partir do caso clínico de uma garota de oito anos, discute-se a importância dos objetos para a invenção e o tratamento que o sujeito dá ao real. Demonstra-se que o tratamento é um trabalho singular realizado pelo sujeito em parceria com os interventores. A prática entre vários e a transferência são colocadas em evidência como dispositivos que favorecem esse trabalho

Cet article est à propos d'une expérience institutionnel de stage à l'Institut Médico Pédagogique Notre Dame de la Sagesse, connu comme Le Courtil. Le Courtil est une institution belge qui accueille des enfants et des jeunes en difficultéau niveau du lien social. À partir d'un cas clinique d'une fille de huit ans, on discute l'importance des objets pour l'invention et pour le traitement du réel donné par le sujet. On démontre que le traitement est un travail singulier réalisé par le sujet en partenariat avec des intervenants. La pratique à plusieurs et le transfert sont mis en avant comme dispositifs qui favorisent ce travail

This article is about an internship experience that took place at the Institut Médico Pédagogique Notre Dame de la Sagesse, known as Le Courtil. Le Courtil is a Belgian institution dedicated to the reception and treatment ofchildren and young people with social bond difficulties. Based on a clinical case of an eight-year-old girl, the importance of objects for the invention and treatment of the real given by the subject is discussed. It is shown that the treatment is a singular work carried out by the subject in partnership with intervening parties. The multi-person practice and the transfer are put forward as devices that favour this work

Este artículo trata de una experiencia de pasantía institucional en el Institut Médico Pédagogique Notre Dame de la Sagesse, también conocido como Le Courtil. Le Courtil es una institución belga que acoge a niños y jóvenes con impasses en el lazo social. A partir del caso clínico de una niña de ocho años, se discute la importancia de los objetos para la invención y el tratamiento que el sujeto hace de lo real. Se demuestra que el tratamiento es un trabajo único realizado por el sujeto en compañía de los interventores. La práctica entre varios y la transferencia se destacan como dispositivos que favorecen este trabajo

Características socioeconômicas, demográficas e nutricionais de crianças com transtorno do espectro autista / Socioeconomic, demographic and nutritional characteristics of children with autism spectrum disorder

Introdução: O transtorno do espectro autista (TEA) é um grupo de desordens neurocomportamentais de grande complexidade. Ao longo dos anos, um número crescente de pessoas vem apresentando o diagnóstico. No Brasil, ainda há poucos estudos sobre o perfil nutricional desse grupo populacional. Objetivo: Traçar o perfil socioeconômico, demográfico, antropométrico e consumo alimentar de crianças com TEA de um movimento social de Macaé, Rio de Janeiro. Métodos: Realizou-se um estudo do tipo exploratório, descritivo, quantitativo, de base primária, no período entre março e junho de 2020, com 92 crianças entre 2 e 9 anos e suas respectivas mães vinculadas ao movimento social de Macaé. Utilizaram-se dois questionários, o primeiro semiestruturado contendo variáveis socioeconômicas, demográficas, clínicas e antropométricas; e o segundo estruturado sobre consumo alimentar. As variáveis contínuas foram descritas por média, desvio-padrão, e as variáveis categóricas como proporção (%). Para verificar a significância das diferenças encontradas nas respostas por grupos e categorias, foi utilizado o teste estatístico qui-quadrado. Utilizou-se o pvalor <0,05 para significância estatística. Resultados: A maioria das crianças era do sexo masculino (81,5%) e não estava alfabetizada (75,0%). Detectaram-se 53,5% crianças com excesso de peso para a idade, segundo IMC por idade, e 91,1% com estatura adequada, segundo estatura por idade. Das 59 crianças avaliadas quanto ao consumo alimentar, 78,0% consumiram feijão no dia anterior; 57,6% frutas frescas e 54,2% vegetais e/ou legumes; 59,3% bebidas adoçadas e 37,3% doces. Conclusão: O excesso de peso e o consumo de marcadores de alimentos não saudáveis foram elevados no grupo avaliado.

Introduction: Autism spectrum disorder (ADS) is a group of highly complex disorders. Over the years, there has been a growing number of ADS-diagnosed persons. In Brazil, there are few studies on the nutritional profile of this population. Objective: To describe the socioeconomic, demographic, anthropometric characteristics and food consumption of children with ADS from a social movement in Macaé, Rio de Janeiro. Methods: An exploratory, descriptive, quantitative, primary research was carried out between March and June 2020, with 92 children aged 2 to 9 years and their respective mothers, members of the social movement in Macaé. Two questionnaires were used: the first was semi-structured containing socioeconomic, demographic clinical and anthropometric variables; the second, a structured questionnaire about foods consumption. The continuous variables were described as means, standard deviation, and the categorical variables as proportion (%). To determine the significance of the differences found in the responses by groups and categories, the chi-square test was used. P-value <0.05 was used for statistical significance. Results: Most children were male (81.5%) and illiterate (75.0%). It was found that 53.5% of the children were overweight, according to the BMI for age, and 91.1% had adequate height for age. Out of 59 children assessed for foods intake, 78.0% ate beans the day before the interview; 57.6% ate fresh fruits, and 54.2% vegetables; 59.3% consumed sweetened drinks and 37.3%, sweets. Conclusion: Overweight and markers of unhealthy eating habits were high for he assessed group.