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We present a historical account of autism in Peru. Currently, the term "autism spectrum conditions", from the neurodiversity paradigm, is used to describe neurodevelopmental disorders characterized by persistent difficulties in communication, social interaction, and restricted and repetitive behaviors and interests. In Peru, the scientific study of nervous and mental diseases began around 1920 and although the diagnosis of "childhood autism" was proposed in 1959, it only began to spread in the 1980s. Although significant advances were made in the 21st century, Peru still faces many challenges in addressing autism.

Presentamos un recuento histórico del autismo en el Perú. Actualmente, desde el paradigma de la neurodiversidad, se utiliza el término «condiciones del espectro autista¼ para describir alteraciones del neurodesarrollo caracterizadas por dificultades persistentes en la comunicación, la interacción social y comportamientos e intereses restringidos y repetitivos. En Perú, el estudio científico de las enfermedades nerviosas y mentales comenzó alrededor de 1920, y aunque el diagnóstico de «autismo infantil¼ se planteó en 1959, comenzó a extenderse recién en la década de 1980. Si bien en el siglo XXI se presentaron avances significativos, Perú todavía enfrenta muchos retos en el abordaje del autismo.

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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).

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Introdução: os transtornos do espectro do autismo (TEA) são uma condição de início precoce, cujas dificuldades estão relacionadas à ausência ou limitações no uso da linguagem, na interação social e das atividades imaginativas, bem como padrões restritos/repetitivos de comportamento. Geralmente, as primeiras manifestações dos TEA aparecem antes dos 36 meses de idade, o que envolve a adoção de medidas de detecção precoce dos sinais de alerta já nesses primeiros meses de vida. No âmbito da Atenção Primária à Saúde (APS), práticas de Enfermagem podem ser empreendidas para a detecção precoce desses sinais de alerta, partindo-se da premissa de que o enfermeiro possui papel estratégico neste processo, cujas ações podem impactar positivamente na qualidade de vida e bem estar de crianças e de suas famílias. Objetivos: descrever a participação de enfermeiros no processo de detecção precoce dos sinais de alerta dos TEA em crianças de até três anos de idade, no âmbito da Atenção Primária à Saúde; e analisar as relações interpessoais enfermeiros e familiares dessas crianças no processo de detecção precoce dos sinais de alerta dos TEA. Método: estudo de abordagem qualitativa, descritivo, desenvolvido por meio de entrevistas semiestruturadas com enfermeiros de cinco unidades de Clínica da Família (CF) do município do Rio de Janeiro. Para tratamento dos dados foi utilizado o software IRaMuTeQ®. As interpretações e teorização foram orientadas pela aplicação da Teoria das Relações Interpessoais, de Hildegard Peplau. A pesquisa foi aprovada por Comitês de Ética em Pesquisa (Pareceres nº 5.370.466 e nº 5.443.956). Resultados: participaram 27 enfermeiros, com idades variando entre 25 e 50 anos (média de 36,3 anos). A área predominante de formação em especialização/residência foi a de Saúde da Família (22 enfermeiros). O tempo de graduação entre os entrevistados obteve média de 9,5 anos; o tempo de trabalho na CF obteve média de 2,9 anos; e o tempo de trabalho na assistência a crianças, com média de 7,2 anos. O corpus advindo das entrevistas foi processado por meio de classificação hierárquica descendente, cuja estruturação se deu em dois blocos temáticos e cinco classes. O bloco I (composto pela classe 2) reuniu 229 segmentos de texto (ST), o que representou 20,3% do corpus textual; e o bloco II (composto pelas classes 1, 3, 4 e 5) contemplou 866 ST, ou seja, 79,7% do corpus textual. A análise lexical foi estruturada a partir dessas cinco classes, que abordaram os seguintes temas: classe 2) as relações interpessoais nas consultas puericultura; classe 1) capacitação de enfermeiros para a detecção dos sinais de alerta dos TEA; classe 3) papéis dos enfermeiros na atenção a familiares de crianças com sinais de alerta dos TEA; classe 4) a comunicação e o vínculo na relação interpessoal terapêutica; e classe 5) o trabalho multidisciplinar na suspeição precoce dos TEA. Considerações Finais: a participação dos enfermeiros no processo de detecção precoce dos sinais de alerta dos TEA revelou-se essencial, estratégica e necessária, a despeito das dificuldades constatadas em relação às demandas de trabalho, problemas de fluxos de atendimento, demoras nos acompanhamentos subsequentes pelo sistema de regulação, desconhecimento sobre aplicabilidade de escalas e protocolos de avaliação, e ainda autorreconhecimento precário de seus papéis e questões relacionadas à treinamento e capacitação. As implicações para a Enfermagem estão centradas no fortalecimento das relações interpessoais família-criança-enfermeiro, com vistas a melhorar a qualidade de vida futura, proporcionando suporte adequado e oportuno desde os primeiros passos do desenvolvimento. A articulação do conhecimento técnico-científico com a sensibilidade humana pode ser compreendida como o caminho para uma prática de Enfermagem mais efetiva, libertadora e inclusiva.

Introduction: autism spectrum disorders (ASD) are an early-onset condition, whose difficulties are related to the absence or limitations in the use of language, social interaction and imaginative activities, as well as restricted/repetitive patterns of behavior. Generally, the first manifestations of ASD appear before 36 months of age, which involves adopting measures to detect early warning signs in the first months of life. Within the scope of Primary Health Care (PHC), Nursing practices can be undertaken for the early detection of these warning signs, based on the premise that nurses have a strategic role in this process, whose actions can positively impact quality of life and well-being of children and their families. Objectives: to describe the participation of nurses in the process of early detection of warning signs of ASD in children up to three years of age, within the scope of Primary Health Care; and analyze the interpersonal relationships between nurses and families of these children in the process of early detection of warning signs of ASD. Method: qualitative, descriptive study, developed through semi-structured interviews with nurses from five Family Clinic (CF) units in the city of Rio de Janeiro. The IRaMuTeQ® software was used to process the data. The interpretations and theorization were guided by the application of Hildegard Peplau's Theory of Interpersonal Relations. The research was approved by Research Ethics Committees (Opinions nº 5,370,466 and nº 5,443,956). Results: 27 nurses participated, with ages ranging between 25 and 50 years (average of 36.3 years). The predominant area of specialization/residency training was Family Health (22 nurses). The time since graduation among those interviewed had an average of 9.5 years; working time at CF averaged 2.9 years; and time working in childcare, with an average of 7.2 years. The corpus arising from the interviews was processed through descending hierarchical classification, which was structured into two thematic blocks and five classes. Block I (composed of class 2) brought together 229 text segments (ST), which represented 20.3% of the textual corpus; and block II (composed of classes 1, 3, 4 and 5) included 866 ST, that is, 79.7% of the textual corpus. The lexical analysis was structured based on these five classes, which addressed the following themes: class 2) interpersonal relationships in childcare consultations; class 1) training nurses to detect the warning signs of ASD; class 3) nurses' roles in caring for family members of children with warning signs of ASD; class 4) communication and bonding in the therapeutic interpersonal relationship; and class 5) multidisciplinary work in the early suspicion of ASD. Final Considerations: the participation of nurses in the process of early detection of warning signs of ASD proved to be essential, strategic and necessary, despite the difficulties observed in relation to work demands, problems with care flows, delays in subsequent follow-ups by the regulation system, lack of knowledge about the applicability of assessment scales and protocols, and also precarious self-recognition of their roles and issues related to training and qualification. The implications for Nursing are centered on strengthening family-child-nurse interpersonal relationships, with a view to improving future quality of life, providing adequate and timely support from the first steps of development. The articulation of technical-scientific knowledge with human sensitivity can be understood as the path to a more effective, liberating and inclusive Nursing practice.

Introducción: los trastornos del espectro autista (TEA) son una condición de aparición temprana, cuyas dificultades están relacionadas con la ausencia o limitaciones en el uso del lenguaje, la interacción social y las actividades imaginativas, así como con patrones de conducta restringidos/repetitivos. Generalmente, las primeras manifestaciones del TEA aparecen antes de los 36 meses de edad, lo que implica adoptar medidas para detectar signos precoces de alerta en los primeros meses de vida. En el ámbito de la Atención Primaria de Salud (APS), se pueden emprender prácticas de enfermería para la detección temprana de estos signos de alerta, partiendo de la premisa de que el enfermero tiene un papel estratégico en este proceso, cuyas acciones pueden impactar positivamente la calidad de vida y el bienestar. ser de los niños y sus familias. Objetivos: describir la participación del enfermero en el proceso de detección temprana de signos de alerta de TEA en niños de hasta tres años de edad, en el ámbito de la Atención Primaria de Salud; y analizar las relaciones interpersonales entre enfermeras y familias de estos niños en el proceso de detección precoz de signos de alerta del TEA. Método: estudio cualitativo, descriptivo, desarrollado a través de entrevistas semiestructuradas con enfermeros de cinco unidades de Clínica de la Familia (CF) de la ciudad de Río de Janeiro. Para procesar los datos se utilizó el software IRaMuTeQ®. Las interpretaciones y teorización estuvieron guiadas por la aplicación de la Teoría de las Relaciones Interpersonales de Hildegard Peplau. La investigación fue aprobada por los Comités de Ética en Investigación (Dictamen nº 5.370.466 y nº 5.443.956). Resultados: Participaron 27 enfermeros, con edades comprendidas entre 25 y 50 años (promedio de 36,3 años). El área de formación de especialización/residencia predominante fue Salud de la Familia (22 enfermeros). El tiempo de egreso entre los entrevistados tuvo un promedio de 9,5 años; el tiempo de trabajo en CF fue de 2,9 años en promedio; y tiempo trabajado en guarderías, con una media de 7,2 años. El corpus surgido de las entrevistas fue procesado mediante clasificación jerárquica descendente, la cual se estructuró en dos bloques temáticos y cinco clases. El bloque I (compuesto por la clase 2) reunió 229 segmentos textuales (ST), que representaron el 20,3% del corpus textual; y el bloque II (compuesto por las clases 1, 3, 4 y 5) incluyó 866 ST, es decir, el 79,7% del corpus textual. El análisis léxico se estructuró a partir de estas cinco clases, las cuales abordaron los siguientes temas: clase 2) relaciones interpersonales en las consultas de puericultura; clase 1) formación de enfermeras para detectar las señales de alerta del TEA; clase 3) funciones de las enfermeras en el cuidado de familiares de niños con signos de advertencia de TEA; clase 4) comunicación y vinculación en la relación interpersonal terapéutica; y clase 5) trabajo multidisciplinar en la sospecha temprana de TEA. Consideraciones finales: la participación de los enfermeros en el proceso de detección temprana de signos de alerta de TEA resultó esencial, estratégica y necesaria, a pesar de las dificultades observadas en relación a las demandas laborales, problemas con los flujos de cuidados, retrasos en los seguimientos posteriores por parte de los sistema de regulación, desconocimiento sobre la aplicabilidad de escalas y protocolos de evaluación, y también precario reconocimiento de sus roles y cuestiones relacionadas con la formación y la cualificación. Las implicaciones para la Enfermería se centran en fortalecer las relaciones interpersonales familia-niño-enfermero, con miras a mejorar la calidad de vida futura, brindando apoyo adecuado y oportuno desde los primeros pasos del desarrollo. La articulación del conocimiento técnico-científico con la sensibilidad humana puede entenderse como el camino hacia una práctica de Enfermería más eficaz, liberadora e inclusiva.

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LAY ABSTRACT: Autism is a lifelong condition characterized by repetitive behaviors and social communication differences. The reported cases of autism increased globally in the past years. Detecting autism early and providing appropriate supports promptly are crucial for better outcomes. Yet, little research focuses on what factors interplay in the diagnostic process of autistic children in Paraguay. We gathered data from 176 caregivers of autistic children under 18 years in Paraguay. Through a detailed analysis, we found that child's age, child's age at the caregiver's first concerns about their development, and the child's verbal skills are key in predicting the age of autism diagnosis in Paraguay. Educating caregivers and professionals about autism and social communication development can help identify autism early and provide timely support.

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With the upsurge of community uptake in population-based early screening for autism, the main obstacle to increasing access to early treatment and intervention services is the extremely limited access to high quality diagnosis, specifically the shortage of expert clinicians. Diagnostic evaluation models deployed by academic centers of excellence, which typically require the investment of 6-10 hours by specialized multidisciplinary teams, is not a viable solution to the vast needs of communities, resulting in parents' "diagnostic odysseys" and delays, often of several years, for treatment, interventions and supports. Biomarker-based objective procedures for early diagnosis and assessment of autism are now available, clinically validated, and cleared for broad implementation by the US Food and Drug Administration (FDA). They are intended to increase access while maintaining high quality. Such solutions, however, will require change in entrenched models of diagnostic care, and aggressive prioritization of the needs of the community at large. If these innovations are successful, the number of children diagnosed in the first three years of life will double or triple. This will, in turn, require much greater investments in resources for treatment, including massive workforce training of providers capable of delivering community-viable caregiver-mediated interventions, and of early educators capable of serving autistic children in therapeutic inclusive preschool settings.

Con el aumento de la aceptación comunitaria de la detección temprana del autismo basada en la población, el principal obstáculo para aumentar el acceso al tratamiento temprano y a los servicios de intervención es el acceso extremadamente limitado a un diagnóstico de alta calidad, específicamente la escasez de médicos expertos. Los modelos de evaluación diagnóstica implementados por centros académicos de excelencia, que normalmente requieren la inversión de 6 a 10 horas por parte de equipos multidisciplinarios especializados, no son una solución viable para las vastas necesidades de las comunidades, lo que resulta en "odiseas diagnósticas" y retrasos, a menudo de gran importancia, para los padres varios años, para tratamiento, intervenciones y apoyos. Los procedimientos objetivos basados en biomarcadores para el diagnóstico temprano y la evaluación del autismo ya están disponibles, clínicamente validados y aprobados para su amplia implementación por la Administración de Alimentos y Medicamentos de EE. UU. (FDA). Su objetivo es aumentar el acceso manteniendo una alta calidad. Sin embargo, tales soluciones requerirán cambios en los modelos arraigados de atención de diagnóstico y una priorización agresiva de las necesidades de la comunidad en general. Si estas innovaciones tienen éxito, el número de niños diagnosticados en los primeros tres años de vida se duplicará o triplicará. Esto, a su vez, requerirá inversiones mucho mayores en recursos para el tratamiento, incluida la capacitación masiva de la fuerza laboral de proveedores capaces de brindar intervenciones comunitarias viables mediadas por cuidadores, y de educadores tempranos capaces de atender a niños autistas en entornos preescolares terapéuticos inclusivos.

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LAY ABSTRACT: To inform improvement of care and public policy, quality research is required. Conducting research projects requires skills and infrastructure. Research capacity building is the process by which individuals and organizations develop greater ability to conduct useful research. However, in the scientific community, research quality and productivity measures are often focused on long-term products, such as publications or grants awarded. Those measures are not helpful when measuring initial stages of research, a common situation in low- and middle-income countries. We used a six-principle framework designed by J. Cooke to assess the progress of an autism research collaborative in northern Mexico. We established 64 criteria across the six principles, and rated them as Not Started, In Progress, or Achieved, based on narratives and process documentation collected for this purpose. Ratings were established for the Years 2018, 2020, and 2022. The principles with the highest Achieved rates were "Linkages, collaborations, and partnerships" (90%), and "Infrastructure" (Principle 6, 70%). Cooke's research capacity building framework is a useful way to monitor progress of research capacity building and contribute to harmonious development of relevant principles at different levels.

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It cannot be assumed that the experience of having an autistic child is the same across countries since demographic and systemic factors are as diverse as the manifestation of ASD symptomatology. This study explores the lived experiences of 20 Venezuelan parents after receiving an autism diagnosis for their child. Applied thematic analysis was used to analyze parental attitudes, challenges in identifying their child's delay, access to diagnostic services, beliefs towards autism, professional evaluations, family support, and perceptions toward health and educational services for autistic children. Venezuelan parents reported a generalized lack of autism awareness, an unsupportive school system, and judgment from their extended family. Despite the universal health coverage in the country, Venezuelan parents commented on the scarcity of services, as well as the lengthy and costly processes to receive an ASD diagnosis. The results support previous research findings showing that socioeconomic factors influence how parents experience the process of obtaining an autism diagnosis for their children. For most Venezuelan parents, it might imply a long journey in which limited resources and knowledge about autism will determine its route and length. For parents, cultural values and spiritual and religious beliefs will serve as both coping mechanisms and barriers to accessing services.

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LAY ABSTRACT: In Ecuador, the low official estimate of the number of persons with autism spectrum disorder suggest that many children are not identified and are not receiving support. Screening tools are short parent-addressed questionnaires used to identify children that may be developing with autism. Their use is recommended, but their application can be perceived as challenging in paediatric routines. Some professionals prefer looking for autism-related behaviours in a child rather than using screening questionnaires. Although a short observation does not replace the use of validated screening questionnaires, tasks to guide the observation of autistic early signs can help professionals decide to screen or refer the family for assessment and early intervention. In this study, we tested observational tasks that could be adapted to the Ecuadorian paediatric contexts.

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O Transtorno do Espectro Autista (TEA) surge nos primeiros anos de vida, mas sua trajetória inicial não é homogênea. Serviços de saúde pública e privada enfrentam desafios no que diz respeito ao diagnóstico e tratamento deste público, assim como no cuidado e orientação das famílias. Diante disso, esta dissertação possui como objetivo analisar a percepção das mães de pessoas com Transtorno do Espectro Autista sobre as práticas de cuidado direcionado ao bem estar das próprias mães que acompanham seus filhos nas unidades de atenção secundária do Sistema Único de Saúde (SUS), assim como as condições de acesso ao diagnóstico e o processo inicial do tratamento. Para tanto, optou-se realizar dois tipos de desenhos metodológicos, sendo um a revisão sistemática (registrado na plataforma PROSPERO sob o código de registro CRD42023394779) e o outro a abordagem qualitativa-descritiva realizada através de entrevistas semiestruturadas com quinze mães de pessoas com TEA registrado sob número de parecer 6.466.061 no Comitê de Ética do Hospital Universitário Onofre Lopes e que resultou em cinco artigos. Todos os artigos foram escritos entre janeiro de 2023 à junho de 2024. Os resultados da revisão sistemática (artigo 1) destacaram os desafios emocionais, sociais e econômicos dos pais de filhos com TEA e a importância do suporte emocional e comunitário para sua resiliência; o artigo 2 identificou barreiras significativas no SUS para o diagnóstico precoce de TEA, como a falta de profissionais especializados e a burocracia, sugerindo melhorias nas políticas públicas; o artigo 3 revelou a diversidade e inconsistência nos tratamentos de TEA disponíveis no SUS, enfatizando a necessidade de integração entre diferentes serviços de saúde para eficácia terapêutica; o artigo 4 constatou variações significativas nas práticas de cuidado na atenção secundária direcionado às mães que acompanham seus filhos nas consultas, destacando a importância da formação continuada dos profissionais de saúde e a padronização dos cuidados; já o artigo 5 abordou as experiências únicas das mães solteiras de pessoas com TEA, enfatizando a sobrecarga emocional e financeira e a necessidade de redes de suporte específicas; por fim o artigo 6 mostrou que o conhecimento das mães sobre TEA evolui ao longo do tempo, influenciando a eficácia do tratamento e ressaltando a importância de programas educacionais contínuos para os pais. Conclui-se então que esta dissertação oferece uma contribuição significativa ao aprofundar o entendimento das experiências das mães de pessoas com TEA a respeito da busca do diagnóstico e processo terapêutico dos seus filhos, assim como as práticas de cuidado nas unidades de atenção secundária do SUS. Os resultados obtidos sublinham a necessidade urgente de melhorar o acesso ao diagnóstico precoce, facilitar o início dos tratamentos, padronizar as práticas de cuidado e oferecer suporte contínuo às famílias. Para avanços futuros, sugere-se a realização de estudos longitudinais que acompanhem as famílias ao longo do tempo para entender melhor as mudanças nas percepções e nas necessidades de cuidado. É importante investigar a realidade de diferentes regiões do Brasil para obter uma visão mais abrangente das condições de acesso e tratamento. Também seria benéfico incluir perspectivas de outros cuidadores para uma compreensão mais completa do impacto do TEA. Por fim, é fundamental informar a criação de políticas públicas que abordem as lacunas identificadas na pesquisa, promovendo uma melhor integração e qualidade dos serviços de saúde oferecidos pelo SUS (AU).

Autism Spectrum Disorder (ASD) appears in the first years of life, but its initial trajectory is not homogeneous. Public and private health services face challenges when it comes to diagnosing and treating this population, as well as caring for and guiding families. Therefore, this dissertation aims to analyze the perception of mothers of people with Autism Spectrum Disorder regarding care practices aimed at the well-being of the mothers themselves who accompany their children in the secondary care units of the Unified Health System (SUS), as well as the conditions for access to diagnosis and the initial treatment process. To this end, it was decided to carry out two types of methodological designs, one being a systematic review (registered on the PROSPERO platform under the registration code CRD42023394779) and the other a qualitative-descriptive approach carried out through semi-structured interviews with fifteen mothers of people with ASD registered under opinion number 6.466.061 with the Ethics Committee of the Onofre Lopes University Hospital and which resulted in five articles. All articles were written between January 2023 and June 2024. The results of the systematic review (article 1) highlighted the emotional, social and economic challenges faced by parents of children with ASD and the importance of emotional and community support for their resilience; article 2 identified significant barriers in the SUS for the early diagnosis of ASD, such as the lack of specialized professionals and bureaucracy, suggesting improvements in public policies; article 3 revealed the diversity and inconsistency in ASD treatments available in the SUS, emphasizing the need for integration between different health services for therapeutic effectiveness; article 4 found significant variations in care practices in secondary care aimed at mothers who accompany their children to consultations, highlighting the importance of continued training for health professionals and the standardization of care; Article 5 addressed the unique experiences of single mothers of people with ASD, emphasizing the emotional and financial burden and the need for specific support networks; Finally, article 6 showed that mothers' knowledge about ASD evolves over time, influencing the effectiveness of treatment and highlighting the importance of ongoing educational programs for parents. It is therefore concluded that this dissertation offers a significant contribution by deepening the understanding of the experiences of mothers of people with ASD regarding the search for diagnosis and the therapeutic process of their children, as well as care practices in SUS secondary care units. The results obtained highlight the urgent need to improve access to early diagnosis, facilitate the initiation of treatments, standardize care practices and offer continuous support to families. For future advances, it is suggested that longitudinal studies be carried out that follow families over time to better understand changes in perceptions and care needs. It is important to investigate the reality of different regions of Brazil to obtain a more comprehensive view of access and treatment conditions. It would also be beneficial to include perspectives from other caregivers for a more complete understanding of the impact of ASD. Finally, it is essential to inform the creation of public policies that address the gaps identified in the research, promoting better integration and quality of health services offered by the SUS (AU).

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Autism Spectrum Disorder (ASD) is classified by Diagnostic and Statistical Manual of Mental Disorders (DSM-5) as a neurodevelopmental disorder, whose characteristics are mainly deficits in social communication and a restricted range of interests. There are several studies about autism, speech, and language in the literature, but few correlate speech and autism. This study aims to carry out a case study that will address autism, speech, and PROMPT (Restructuring Oral Muscular Phonetic Targets) and also to describe the speech improvement in the participant with autism using the method. The target words were defined for the entire intervention according to the System Analysis Observation (SAO) and Motor Speech Hierarchy (MSH), which are parts of the PROMPT evaluation. After the evaluation, the participant was attended for 16 sessions, once weekly, with the objective of improving their speech. After analyzing the data, it was possible to observe improvement in all aspects outlined according to the pre-treatment evaluation of the method such as phonatory control, mandibular control, lip-facial control and lingual control as well as in the sequenced movement although this was not the aim outlined in the evaluation. It was also possible to measure the improvement of an adequate number of words, an adequate number of phonemes, percentages of correct consonants - revised (PCC-R), and intelligibility.

O Transtorno do Espectro Autista (TEA) é classificado pelo Manual de Diagnóstico e Estatístico de Transtornos Mentais (DSM-5) como um Transtorno do Neurodesenvolvimento, sendo caracterizado, principalmente, por alterações na comunicação social e pela presença de um repertório restrito de atividades e interesses. Na literatura, há muitos estudos sobre autismo, fala e linguagem, mas poucos correlacionando fala e autismo. Este estudo teve como finalidade realizar um estudo de caso que abordou autismo, fala e PROMPT (Pontos para a Reestruturação de Objetivos Fonéticos e Oro-Musculares) e mensurou a melhora da fala no participante com autismo, utilizando o método. Foram definidas palavras-alvo para toda a intervenção, conforme o Sistema de Observação e Análise (SOA) e Hierarquia Motora de Fala (HMF), que fazem parte da avaliação de PROMPT. Após a avaliação, o participante foi atendido por 16 sessões, uma vez semanalmente. Após análise dos dados, observou-se melhora em todos os aspectos que foram delineados de acordo com a avaliação no pré-tratamento, como controle fonatório, controle mandibular, controle lábio-facial e controle lingual, como também no movimento sequenciado, apesar deste não ser o objetivo traçado na avaliação. Também foi possível mensurar melhora no número de vocábulos adequados, número de fonemas adequados, porcentagens de consoantes corretas ­ revisado (PCC-R) e inteligibilidade.

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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)

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OBJECTIVE: To identify neonatal characteristics and 2-year neurodevelopmental outcomes associated with positive screening for risk of autism. STUDY DESIGN: Nine university-affiliated neonatal intensive care units (NICUs) enrolled infants born at <30 weeks of gestation. Infants underwent the NICU Network Neurobehavioral Scale examination before discharge and the Bayley Scales of Infant and Toddler Development, Third Edition, the Child Behavior Checklist, and the Modified Checklist for Autism in Toddlers, revised with follow-up (M-CHAT-R/F) at 2 years of corrected age. Generalized estimating equations examined associations between M-CHAT-R/F, neurobehavioral test results, and neonatal medical morbidities. RESULTS: At 2 years of corrected age, data were available for 466 of 744 enrolled infants without cerebral palsy. Infants with hypoaroused NICU Network Neurobehavioral Scale profiles were more likely to screen M-CHAT-R/F-positive (OR 2.76, 95% CI 1.38-5.54). Infants with ≥2 medical morbidities also were more likely to screen positive (OR 2.65, 95% CI 1.27-5.54). Children with positive M-CHAT-R/F scores had lower Bayley Scales of Infant and Toddler Development, Third Edition, Cognitive (t [451] = 5.43, P < .001, d = 0.82), Language (t [53.49] = 7.82, P < .001, d = 1.18), and Motor (t [451] = 7.98, P < .001, d = 1.21) composite scores and significantly greater Child Behavior Checklist Internalizing (t [457] -6.19, P < .001, d = -0.93) and Externalizing (t [57.87] = -5.62, P < .001, d = -0.84) scores. CONCLUSIONS: Positive M-CHAT-R/F screens at 2 years of corrected age were associated with neonatal medical morbidities and neurobehavioral examinations as well as toddler developmental and behavioral outcomes. These findings demonstrate the potential utility of the M-CHAT-R/F as a global developmental screener in infants born very preterm, regardless of whether there is a later autism diagnosis.

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OBJECTIVE: To investigate the factors associated with the early diagnosis of autism and other types of pervasive developmental disorder (PDD) in children treated at the Psychosocial Care Center for Children and Adolescents of the Unified Health System, from 2013 to 2019,in Brazil. METHODS: An exploratory cross-sectional study, based on data from the Record of Outpatient Health Actions (RAAS) of the first appointment of children aged 1 to 12 years. The gross (RRg) and adjusted (RRa) relative risks and respective 95% confidence intervals (95%CI) were estimated using the Poisson regression model with robust variance estimation. RESULTS: Of the 22,483 children included in the study, the majority were male (81.9%), lived in the same municipality where they were diagnosed (96.8%) and in the Southeast region (57.7%). Early diagnosis was higher for childhood autism (RRg = 1.48; 95%CI 1.27-1.71) , PDD without subtype designation (RRg = 1.55; 95%CI 1.34-1.80), other PDD (RRg = 1.48; 95%CI 1.21-1.81) and PDD not otherwise specified (RRg = 1.44; 95%CI 1.22-1.69) than for atypical autism. Children residing in the same municipality where the diagnosis was made had a higher rate of early diagnosis (RRg = 1.31; 95%CI 1.10-1.55) than the others; as well as those referred by primary care (RRg = 1.51; 95%CI 1.37-1.68) and by spontaneous demand (RRg = 1.45; 95%CI 1.31-1.61) than those from other types of referral. Early diagnosis was higher from 2014 and lower in the North region than in the other regions. In the multiple analysis, the magnitude of RRa was similar to that of RRg. CONCLUSIONS: Early identification of autism and other PDD has improved in Brazil, but it still represents about 30% of the diagnoses made. The variables included in the model were significant, but still explain little of the early diagnosis of children with autism and other PDD.

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OBJECTIVE: To examine the classification rates and screening properties, including sensitivity and specificity, of the web-based Modified Checklist for Autism in Toddler, Revised with Follow-Up (M-CHAT-R/F) compared with paper-phone administration, and to determine the extent to which electronic M-CHAT-R/F streamlines screening, increases screening fidelity, increases diagnostic evaluation participation, and decreases waiting time from screening to evaluation compared with paper-phone modality. STUDY DESIGN: Primary-care practices in urban and suburban settings administered either the web-based or paper-phone M-CHAT-R/F using a prospective nonrandomized control design. Toddlers (n = 17 900) were screened between 2009 and 2016 at routine well-child check-ups. Toddlers who screened at risk on the M-CHAT-R/F were invited to complete diagnostic evaluations; 176 children were diagnosed with autism. The χ2, Fisher exact, and t-tests, as well as regression and screening properties, were used to compare outcome distributions, screening properties, and implementation by modality. RESULTS: Classification rates of the initial M-CHAT-R into low, medium, and high risk were significantly different across modalities with very small effect sizes. Sensitivity and specificity were high across both modalities. For children in the medium-risk range, the web-based modality had a greater rate of predicting risk for autism after Follow-Up compared with the paper-phone modality, and the web eliminated delay between initial screen and Follow-Up. The web-based modality showed increased screening fidelity, no data loss, and similar rates of evaluation attendance and time to evaluation from Follow-Up administration. CONCLUSIONS: The web-based M-CHAT-R/F is a valid tool for universal autism screening. Systems-level decisions should balance the increased feasibility of the electronic administration with the increase in Follow-Up accuracy provided by skilled clinician interview.

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LAY ABSTRACT: Insistence on sameness is common in autistic individuals and continues into adulthood. Research shows it may be a way to cope with environments because of their sensory sensitivity, intolerance to uncertainty, and anxiety. Understanding the reasons for insistence on sameness from the perspective of autistic adults is important. To study the meanings of insistence on sameness for autistic adults, we interviewed 16 Brazilian autistic adults. All 10 formally diagnosed participants were diagnosed in adulthood. Six participants identified as being on the autism spectrum without formal diagnosis. During the interviews by email, we first asked about participants' experiences with autism diagnosis, either formal diagnosis or self-diagnosis. Then, we asked about their experiences in places for eating out and grocery shopping. We found they tended to always go to the same places and use protective accessories to eat or shop comfortably. But their such behaviors were considered weird habits, first by other people and later by themselves. While trying to control their weird habits because of social pressure, they often suffered anxiety and meltdowns. When they finally learned of their autism in adulthood, they began to better understand who they are and why they experience the environment differently from others. This new understanding taught them that their so-called weird habits are actually part of their authentically autistic ways to cope with the weirder world. This study suggests that autistic adults' insistence on sameness is an authentically autistic way to exercise their right to comfortably co-exist and live as human beings and as themselves.

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BACKGROUND: The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.

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BACKGROUND: Sex differences in symptom severity and adaptive function in children with ASD have been historically inconsistent and studies are predominantly from American- and European-residing populations. Alike, there is limited information on the complex interplay between sex, intelligence, adaptive function, and autism symptom severity; this is crucial to identify given their predictive value for health outcomes in autism AIM: This study aimed to identify sex differences in autism symptom severity and adaptive function in a sample of Venezuelan children. METHOD: One-hundred-and-three Venezuelan children ages 3-7 completed a comprehensive assessment for symptom severity, adaptive functioning, and intelligence. RESULTS: Sex differences were not present in any autism diagnostic domain or adaptive function.Symptom severity was not a significant predictor for adaptive function, which contrasts with studies sampling American children. CONCLUSION: This study corroborates other findings based on non-American children, where symptom severity was not a function of adaptive function. Awareness of the interplay of culture, sex-related standards, and autism symptomatology will result in better identification and diagnosis of autism regardless of sex or cultural background. What this paper adds? This paper aids the current literature on sex difference on both autism symptom severity and adaptive function. It also provides a snapshot of the relationship between symptom severity, adaptive function, and other psychological variables that influence the outcome of children with ASD.

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OBJECTIVE: There is limited evidence about the cross-cultural validity of autistic symptoms in school-aged children in Brazil. We used data from a large school survey to evaluate the factor structure of autism symptoms in community-dwelling children and adolescents. METHODS: We translated the Childhood Autism Spectrum Test to Brazilian Portuguese and performed factor analyses to investigate the factor structure of parent-reported autistic symptoms in a large sample (n=8,571) of children/adolescents from a school survey in the metropolitan area of São Paulo. RESULTS: Autistic symptoms were best conceptualized under a correlated-factors model with two factors: one predominantly characterized by social-communication symptoms and the other by symptoms of inflexible/restricted language, behaviors, and interests. CONCLUSIONS: These findings provide evidence that the structure of autistic symptoms in Brazil is similar to that described in other countries, indicating the cross-cultural validity of autism in Brazil.

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