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Introducción. El trastorno del espectro autista (TEA) se caracteriza por dificultades de comunicación social y comportamientos repetitivos y estereotipados. Además de la categoría diagnóstica, las actividades que los niños, niñas y adolescentes (NNyA) pueden realizar y la participación social son los aspectos principales por considerar desde el marco de la Clasificación Internacional del Funcionamiento, la Discapacidad y la Salud (CIF), propuesta por la Organización Mundial de la Salud, para describir los estados de salud. En una investigación previa, elaboramos la primera versión de una herramienta pediátrica basada en la CIF llamada TEA-CIFunciona para evaluación funcional de NNyA con diagnóstico de TEA, que permitió captar características funcionales adaptadas a nuestro contexto cultural. Se propuso como objetivo posterior aplicar TEA-CIFunciona en formato multicéntrico para evaluar NNyA de diferentes regiones, revisar y actualizar la herramienta, e identificar barreras y facilitadores. Población y métodos. Se administró TEA-CIFunciona versión 1.0 a NNyA con diagnóstico confirmado de TEA (según criterios del DSM-5), menores de 16 años, en seguimiento en cinco centros de atención pediátrica del país. Resultados. Se obtuvo la versión 2.0 de TEA-CIFunciona con 34 categorías (10 funciones corporales, 15 actividades y participación, y 9 factores ambientales). Se elaboró el perfil funcional de la muestra completa (n = 308). Conclusiones. La versión actualizada de TEA-CIFunciona contribuye a estandarizar y a sistematizar la obtención de información necesaria para adecuar el seguimiento de los NNyA con TEA a nivel nacional. Además, permite identificar barreras por superar y facilitadores para generalizar
Introduction. Autism spectrum disorder (ASD) is characterized by difficulties in social communication and repetitive and stereotyped behaviors. In addition to the diagnostic category, the activities performed by children and adolescents and their social involvement are the main aspects to be considered according to the International Classification of Functioning, Disability, and Health (ICF) proposed by the World Health Organization to describe health status. In a previous study, we developed the first version of a pediatric tool based on the ICF called ICF-ASD for the functional assessment of children and adolescents with ASD to capture functional characteristics adapted to our cultural setting. Our subsequent objective was to apply the ICF-ASD in a multicenter format to assess children and adolescents from different regions, review, and update it, and identify barriers and facilitators. Population and methods. The ICF-ASD version 1.0 was administered to children and adolescents younger than 16 years with a confirmed diagnosis of ASD (as per DSM-5 criteria), who were receiving follow-up at 5 children's health centers across Argentina. Results. Version 2.0 of the ICF-ASD was obtained, which included 34 categories (10 under body function, 15 under activities and participation, and 9 under environmental factors). A functional profile was developed for the whole sample (n = 308). Conclusions. The updated version of the ICF-ASD helps to standardize and systematize the collection of necessary data for an adequate follow-up of children and adolescents with ASD at a national level. It also allows to identify barriers to overcome and facilitators to be generalized
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Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Transtorno do Espectro Autista/classificação , Transtorno do Espectro Autista/diagnóstico , Argentina , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Estudos Transversais , Avaliação da DeficiênciaRESUMO
Neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), are characterized by persistent changes in communication and social interaction, as well as restricted and stereotyped patterns of behavior. The complex etiology of these disorders possibly combines the effects of multiple genes and environmental factors. Hence, exposure to insecticides such as imidacloprid (IMI) has been used to replicate the changes observed in these disorders. Lutein is known for its anti-inflammatory and antioxidant properties and is associated with neuroprotective effects. Therefore, the aim of this study was to evaluate the protective effect of lutein-loaded nanoparticles, along with their mechanisms of action, on Drosophila melanogaster offspring exposed to IMI-induced damage. To simulate the neurodevelopmental disorder model, flies were exposed to a diet containing IMI for 7 days. Posteriorly, their offspring were exposed to a diet containing lutein-loaded nanoparticles for a period of 24 h, and male and female flies were subjected to behavioral and biochemical evaluations. Treatment with lutein-loaded nanoparticles reversed the parameters of hyperactivity, aggressiveness, social interaction, repetitive movements, and anxiety in the offspring of flies exposed to IMI. It also protected markers of oxidative stress and cell viability, in addition to preventing the reduction of Nrf2 and Shank3 immunoreactivity. These results demonstrate that the damage induced by exposure to IMI was restored through treatment with lutein-loaded nanoparticles, elucidating lutein's mechanisms of action as a therapeutic agent, which, after further studies, can become a co-adjuvant in the treatment of neurodevelopmental disorders, such as ASD and ADHD.
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Comportamento Animal , Drosophila melanogaster , Luteína , Nanopartículas , Nitrocompostos , Animais , Drosophila melanogaster/efeitos dos fármacos , Luteína/farmacologia , Luteína/administração & dosagem , Comportamento Animal/efeitos dos fármacos , Masculino , Feminino , Nitrocompostos/toxicidade , Neonicotinoides/toxicidade , Estresse Oxidativo/efeitos dos fármacos , Inseticidas/toxicidade , Fármacos Neuroprotetores/farmacologia , Fármacos Neuroprotetores/administração & dosagem , Transtornos do Neurodesenvolvimento/prevenção & controle , Transtornos do Neurodesenvolvimento/induzido quimicamente , Transtornos do Neurodesenvolvimento/metabolismo , Antioxidantes/farmacologia , Antioxidantes/metabolismoRESUMO
Neonatal immune activation (NIA) through exposure to lipopolysaccharide (LPS) induces adult behavioral changes in rodents that resemble symptoms of developmental disorders, such as autism spectrum disorder. The neonatal timing of LPS exposure appears to play a crucial role in determining the nature and extent of long-term changes. This study aims to explore whether a 3-day LPS-NIA triggers sex- and age-related changes in gut function, potentially linking LPS-NIA to gastrointestinal dysfunction. Male and female Swiss mice received intraperitoneal injections of LPS or saline on postnatal days (PN) 3, 5, and 7. At PN35 (juvenile) and PN70 (adult), gut inflammation and oxidative stress were evaluated in addition to assessments of working memory, depressive-like symptoms, sociability, and repetitive behavior. Gut examination showed elevated C-X-C motif chemokine receptor 3 (CXCR3) in LPS-NIA mice, while MyD88 and Zonulin expressions were significantly higher only in adult LPS-NIA females. Interleukin (IL)-23 expression increased in juvenile and adult male and juvenile female LPS-NIA mice. Oxidative changes included decreased duodenal reduced glutathione (GSH) in juvenile females and ileal GSH in adult females exposed to LPS-NIA. Regarding behavioral alterations, adult LPS-NIA females exhibited depressive-like behavior. Working memory deficits were observed across all LPS-NIA groups. Only juvenile LPS-NIA females increased grooming, while rearing was higher in adult LPS-NIA mice of both sexes. The findings imply that LPS-NIA impacts intestinal barrier function and causes gut inflammatory alterations that are sex- and age-specific. These findings pave the way for exploring potential mechanisms that could contribute to LPS-induced gastrointestinal disturbances among individuals with ASD.
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Animais Recém-Nascidos , Lipopolissacarídeos , Caracteres Sexuais , Animais , Lipopolissacarídeos/toxicidade , Feminino , Camundongos , Masculino , Fatores Etários , Estresse Oxidativo/efeitos dos fármacos , Estresse Oxidativo/fisiologia , Envelhecimento/imunologia , Envelhecimento/fisiologiaRESUMO
Los programas de estimulación temprana son intervenciones dirigidas a niños con trastornos del desarrollo, como lo es el autismo, estos buscan favorecer la adaptación e integración social, así como mejorar habilidades cognitivas, comunicativas y emocionales. Sin embargo, la pandemia del COVID-19 fue un gran desafío para la continuidad y la efectividad de estos programas, debido a las restricciones de movilidad, el cierre de centros educativos y sanitarios, y el aumento del estrés familiar. En este artículo se revisan los principales estudios que evaluaron el impacto de la pandemia en los programas de estimulación temprana para niños dentro del espectro autista y las estrategias para adaptarlos al contexto actual. Metodología: se realizó una revisión bibliográfica de estudios publicados entre 2020 y 2023 en Scopus, Web of Science, Scielo, Latindex y Google Scholar. Aplicando ecuaciones de búsqueda elaboradas con los descriptores y operadores booleanos: "programas de estimulación temprana", "trastorno del espectro autista", "pandemia COVID-19". Se seleccionaron 29 trabajos que cumplieron con los criterios de inclusión como el aborde de programas de estimulación temprana para niños dentro del espectro autista, producto de investigación empírica o teórica sobre el tema. Los resultados coinciden con los de otras investigaciones que han analizado la misma temática. Se concluye que la pandemia afectó negativamente tanto la calidad como la efectividad de los programas de estimulación temprana, elevando la vulnerabilidad de los niños y niñas con TEA, y que es necesario desarrollar e implementar medidas específicas para garantizar el acceso y la atención adecuada a este colectivo vulnerable.
Early stimulation programs are interventions aimed at children with developmental disorders, such as autism, which seek to promote adaptation and social integration, as well as improve cognitive, communicative and emotional skills. However, the COVID-19 pandemic was a great challenge for the continuity and effectiveness of these programs, due to mobility restrictions, the closure of educational and health centers, and increased family stress. This article reviews the main studies that evaluated the impact of the pandemic on early stimulation programs for children within the autism spectrum and the strategies to adapt them to the current context. Methodology: a bibliographic review of studies published between 2020 and 2023 in Scopus, Web of Science, Scielo, Latindex and Google Scholar was carried out. Applying search equations created with Boolean descriptors and operators: "early stimulation programs", "autism spectrum disorder", "COVID-19 pandemic". 29 works were selected that met the inclusion criteria such as addressing early stimulation programs for children within the autism spectrum, product of empirical or theoretical research on the topic. The results coincide with those of other investigations that have analyzed the same topic. It is concluded that the pandemic negatively affected both the quality and effectiveness of early stimulation programs, increasing the vulnerability of boys and girls with ASD, and that it is necessary to develop and implement specific measures to guarantee access and adequate care for this vulnerable group.
Os programas de estimulação precoce são intervenções dirigidas a crianças com perturbações do desenvolvimento, como o autismo, que procuram promover a adaptação e a integração social, bem como melhorar as competências cognitivas, comunicativas e emocionais. No entanto, a pandemia da COVID-19 representou um grande desafio para a continuidade e eficácia destes programas, devido às restrições de mobilidade, ao encerramento de centros educativos e de saúde e ao aumento do stress familiar. Este artigo revisa os principais estudos que avaliaram o impacto da pandemia nos programas de estimulação precoce para crianças do espectro do autismo e as estratégias para adaptá-los ao contexto atual. Metodologia: foi realizada uma revisão bibliográfica de estudos publicados entre 2020 e 2023 nas bases Scopus, Web of Science, Scielo, Latindex e Google Scholar. Aplicando equações de busca criadas com descritores e operadores booleanos: "programas de estimulação precoce", "transtorno do espectro do autismo", "pandemia de COVID-19". Foram selecionados 29 trabalhos que atenderam aos critérios de inclusão como abordar programas de estimulação precoce para crianças do espectro do autismo, produto de pesquisas empíricas ou teóricas sobre o tema. Os resultados coincidem com os de outras investigações que analisaram o mesmo tema. Conclui-se que a pandemia afetou negativamente tanto a qualidade como a eficácia dos programas de estimulação precoce, aumentando a vulnerabilidade de meninos e meninas com TEA, e que é necessário desenvolver e implementar medidas específicas para garantir o acesso e cuidados adequados a este grupo vulnerável.
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La Educación Física ha demostrado ser una herramienta eficaz para desarrollar condiciones físicas y mentales en el ser humano. Sin embargo, aún las propuestas a favor de hacer realidad la educación inclusiva en estudiantes con trastorno del espectro autista no logra los niveles mundialmente esperados. Es por ello que en esta obra se plantea como objetivo diseñar un sistema de juegos inclusivos para el desarrollo de la coordinación motriz en estudiantes con trastorno del espectro autista, en la clase de Educación Física. Para lograr este propósito se emplearon como métodos fundamentales del nivel empírico la encuesta, la prueba pedagógica y la observación. Los resultados del diagnóstico apuntan a un deficiente conocimiento por parte de los docentes de Educación Física sobre el tratamiento de los estudiantes con este trastorno, por lo que se procede a la tarea de elaborar un sistema de juegos para el desarrollo de la coordinación motriz que gradualmente los incorpore a la socialización en el grupo, y un sistema evaluativo pertinente donde se pudieron apreciar resultados superiores cuantitativa y cualitativamente.
A Educação Física tem se mostrado uma ferramenta eficaz para desenvolver as condições físicas e mentais do ser humano. No entanto, mesmo as propostas a favor de tornar a educação inclusiva uma realidade para alunos com perturbação do espectro do autismo não atingem os níveis globalmente esperados. Por isso o objetivo deste trabalho é desenhar um sistema de jogos inclusivos para o desenvolvimento da coordenação motora em alunos com transtorno do espectro do autismo, na aula de Educação Física. Para atingir este propósito, o inquérito, o teste pedagógico e a observação foram utilizados como métodos fundamentais a nível empírico. Os resultados do diagnóstico apontam para pouco conhecimento por parte dos professores de Educação Física sobre o tratamento dos alunos com esse transtorno, por isso passam à tarefa de desenvolver um sistema de jogos para o desenvolvimento da coordenação motora que os incorpore gradativamente à socialização em o grupo, e um sistema avaliativo pertinente onde resultados superiores pudessem ser vistos quantitativa e qualitativamente.
Physical Education has proven to be an effective tool to develop physical and mental conditions in human beings. However, even the proposals in favor of making inclusive education a reality for students with autism spectrum disorder do not achieve the globally expected levels. That is why, the objective of this work is to design a system of inclusive games for the development of motor coordination in students with autism spectrum disorder, in the Physical Education class. To achieve this purpose, the survey, the pedagogical test and observation were used as fundamental methods at the empirical level. The results of the diagnosis point to poor knowledge on the part of Physical Education teachers about the treatment of students with this disorder, so it is proceed to the task of developing a system of games for the development of motor coordination that gradually incorporated them into socialization in the group, and a pertinent evaluative system where superior results could be seen quantitatively and qualitatively.
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OBJECTIVES: This systematic review sought to provide evidence for the effectiveness of common pharmacological interventions used for treating attention deficit hyperactivity disorder (ADHD) symptoms in the autism spectrum disorder (ASD) population, considering studies attempting to find safe and effective drugs. METHODS: We searched for randomized controlled trials describing the effectiveness and/or safety profile of pharmacological interventions for treating ASD and ADHD or ASD with ADHD symptoms using three bibliographic databases: PubMed, Cochrane Library, and Embase. We have chosen ADHD symptoms measured by any clinical scale as the primary outcome. As additional outcomes, we have used other symptoms of aberrant behavior measured by the aberrant behavior checklist, satisfaction with treatment, and peer satisfaction. RESULTS: Twenty-two publications met the inclusion criteria for the systematic review and eight for the meta-analysis. In our investigation, we found a few articles using clonidine, modafinil, and bupropion as interventions when compared to methylphenidate (MPH). Our meta-analysis showed that MPH had positive changes compared to placebo in symptoms such as hyperactivity, irritability, or inattention. However, no effect was found in stereotyped symptoms, and our data's quantitative analysis revealed a large effect of MPH-induced adverse effects on the dropout rate. On the other hand, atomoxetine initiation had positive effects when compared to placebo on symptoms of hyperactivity and inattention. We have found no effect of atomoxetine on stereotypes or irritability. Furthermore, atomoxetine did not influence side effects that caused dropouts from studies. CONCLUSION: Our results indicated that atomoxetine has a modest effect on hyperactivity and inattention symptoms, with a relatively benign profile of side effects. MPH appears to be effective in handling hyperactivity, inattention, and irritability symptoms. However, our results on atomoxetine revealed increased dropouts due to adverse effects when compared to MPH or placebo. Evidence for other substances such as guanfacine, clonidine, bupropion, or modafinil is either preliminary or nonexistent.
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Transtorno do Deficit de Atenção com Hiperatividade , Transtorno do Espectro Autista , Humanos , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Transtorno do Espectro Autista/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Ensaios Clínicos Controlados Aleatórios como Assunto , Clonidina/uso terapêutico , Metilfenidato/uso terapêutico , Resultado do TratamentoRESUMO
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a wide range of behavioral and cognitive impairments. While genetic and environmental factors are known to contribute to its etiology, metabolic perturbations associated with ASD, which can potentially connect genetic and environmental factors, remain poorly understood. Therefore, we conducted a metabolomic case-control study and performed a comprehensive analysis to identify significant alterations in metabolite profiles between children with ASD and typically developing (TD) controls in order to identify specific metabolites that may serve as biomarkers for the disorder. We conducted metabolomic profiling on plasma samples from participants in the second phase of Epidemiological Research on Autism in Jamaica, an age and sex-matched cohort of 200 children with ASD and 200 TD controls (2-8 years old). Using high-throughput liquid chromatography-mass spectrometry techniques, we performed a targeted metabolite analysis, encompassing amino acids, lipids, carbohydrates, and other key metabolic compounds. After quality control and missing data imputation, we performed univariable and multivariable analysis using normalized metabolites while adjusting for covariates, age, sex, socioeconomic status, and child's parish of birth. Our findings revealed unique metabolic patterns in children with ASD for four metabolites compared to TD controls. Notably, three metabolites were fatty acids, including myristoleic acid, eicosatetraenoic acid, and octadecenoic acid. The amino acid sarcosine exhibited a significant association with ASD. These findings highlight the role of metabolites in the etiology of ASD and suggest opportunities for the development of targeted interventions.
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Vitamin A (VA) has many functions in the body, some of which are key for the development and functioning of the nervous system, while some others might indirectly influence neural function. Both hypovitaminosis and hypervitaminosis A can lead to clinical manifestations of concern for individuals and for general global health. Scientific evidence on the link between VA and autism spectrum disorder (ASD) is growing, with some clinical studies and accumulating results obtained from basic research using cellular and animal models. Remarkably, it has been shown that VA deficiency can exacerbate autistic symptomatology. In turn, VA supplementation has been shown to be able to improve autistic symptomatology in selected groups of individuals with ASD. However, it is important to recognize that ASD is a highly heterogeneous condition. Therefore, it is important to clarify how and when VA supplementation can be of benefit for affected individuals. Here we delve into the relationship between VA and ASD, discussing clinical observations and mechanistic insights obtained from research on selected autistic syndromes and laboratory models to advance in defining how the VA signaling pathway can be exploited for treatment of ASD.
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Transtorno do Espectro Autista , Vitamina A , Transtorno do Espectro Autista/metabolismo , Humanos , Vitamina A/metabolismo , Animais , Deficiência de Vitamina A/complicações , Deficiência de Vitamina A/metabolismo , Suplementos NutricionaisRESUMO
General pediatricians and those specialized in developmental-behavioral and neurodevelopmental disabilities support children with neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). We identified substantial geographic disparities in pediatrician availability (eg, urban > rural areas), as well as regions with low pediatrician access but high ASD/ADHD prevalence estimates (eg, the US Southeast).
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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that impairs communication, socialization, and behavior. The association of ASD with folic acid has been investigated due to the importance of this vitamin for neurological health. This study is an update of the publication 'Folic acid and autism: What do we know?' and aims to systematically review studies examining the relationship between folic acid and ASD. The search resulted in 2,389 studies on folic acid and ASD, which were selected by two reviewers based on their titles and abstracts. Studies meeting the inclusion criteria were fully read. The 52 included studies involved 10,429 individuals diagnosed with ASD and assessed the intake of vitamin B6, folic acid, and vitamin B12; serum levels of these vitamins, homocysteine, and methionine; therapeutic interventions using folic acid; and the association between maternal exposure to this vitamin and the risk of ASD. The evidence of insufficient folic acid intake in most individuals with ASD remains consistent in this update. No association was found between maternal exposure to folic acid and the risk of ASD in their children. Despite observed improvements in communication, socialization, and behavior in individuals with ASD following folic acid interventions, it is crucial to consider the individuality and complexity of ASD. Given the relevance of the topic, there remains a need for more high-quality research and clinical trials characterized by rigorous methodological designs.
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Autism comes from the Greek word auto, which means "self." Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and communication. Dental treatment in patients with ASD can be challenging due to their behavior. Therefore, this review discusses preventive treatment techniques for pediatric patients with ASD at the dental office, as the prevalence of children with autism is growing. Thus, dentists would face more patients with autism in their daily practice. Regarding treatment protocols, they would require specialized attention in dental management. Information was searched in the following databases: PubMed, SciELO, Redalyc, Elsevier, and the International Association of Paediatric Dentistry (IAPD). The descriptors used were: Pediatric Dentistry, Autism, ASD, Autism Spectrum Disorder, and Management of the autistic patient.
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The aim of this study was to cross-culturally adapt and validate of the Brazilian Portuguese version of the Quality of Life in Autism Questionnaire (QoLA) among parents of children ASD. The translated version was administered to 91 parents (Male: 4, Female: 85, other: 2) of individuals diagnosed with ASD. Among these, 22 completed the questionnaire twice, providing data for the assessment of test-retest reliability (ICC). The B-QoLA score ranged from 41 to 122, with a mean (SD) of 74.3 ± 18.5 in Part A and ranged from 22 to 94, with a mean (SD) of 61.6 ± 16.4, in Part B. Cronbach's alpha coefficient was 0.94 for Part A, 0.92 for Part B and 0.94 for total B-QoLA, indicating excellent internal consistency. Test-retest reliability was assessed using the intraclass correlation coefficient, which was 0.96 for the total scale, 0.94 for Part A, and 0.95 for Part B. Part A-X2 (df) = 297, (167), X2/2 = 1.7, CFI = 0.85, TLI = 0.84, GFI = 0.78, AGFI = 0.75, and RMSEA (95%CI) = 0.09 (0.07-0.11); Part B-X2 (df) = 297, (167), X2/2 = 1.7, CFI = 0.85, TLI = 0.84, GFI = 0.78, AGFI = 0.75, and RMSEA (95%CI) = 0.09 (0.07-0.11), thus indicating moderate fit of the model. The Brazilian version of the QoLA shows encouraging psychometric properties on each of the two subscales, showing strong internal consistency and good construct validity.
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Background: The aim of this study was to examine some psychometric characteristics of the Chilean-adapted version of the Quantitative Checklist for Autism in Toddlers (Q-CHAT-24) (24) in a group of unselected children (community sample). This version was administered remotely through an online version during the pandemic period to caregivers of children, aged 18-24 months, registered in four primary care polyclinics of the Health Service Araucanía Sur, Chile. Methods: An intentional non-probabilistic sampling was used. Three hundred and thirteen toddlers were examined. Participants completed an online version of the Q-CHAT-24 which was disseminated through the REDCap platform. Evidence of reliability through internal consistency and evidence of predictive validity through ROC curve analysis were realized. Results: The mean age of the children evaluated was 21.16 months. The Shapiro-Wilk test revealed that Q-CHAT-24 scores was normally distributed. 71 cases (23.12%) scored 38 points or more on the Q-CHAT-24, qualifying as Autistic Risk. 48 cases (15.63%) were confirmed as autistic through the ADOS-2 Module T. All items were positively correlated with Q-CHAT-24 total score. All items were positively correlated with Q-CHAT-24 total score. Internal consistency was acceptable for the Q-CHAT-24 (Cronbach ´s α=0.78). The internal consistencies were analyzed for the Q-CHAT-24 Factors, and they were good for factor 1 "Communication and Social Interaction" (Cronbach ´s α=0.85) and acceptable for factor 2 "Restrictive and Repetitive Patterns" (Cronbach ´s α=0.74). Receiver operating characteristic (ROC) curve analyses were performed. The AUC values were 0.93 with statistical significance (p<0.01). For the cut-off point of 38, the Sensitivity, Specificity and Youden index values were 0.89, 0.8 and 0.7, respectively. The Positive Predictive Value (PPV) was 86% and the Negative Predictive Value (NPV) was 85%. Conclusions: In accordance with the objectives of this study, evidence of reliability and predictive validity was demonstrated for the Q-CHAT-24 in this Chilean population. More importantly, this study provides Sensitivity and Specificity data for a remote application version of an autism screening tool already validated in Chile. The implications of this have to do with the possibility of establishing a remote assessment system for children at risk of autism on a population scale.
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OBJECTIVE: This study aimed to investigate the prevalence of autism spectrum disorder and its possible correlations with clinical characteristics in patients with infantile epileptic spasms syndrome in a single center in Brazil. METHODS: This retrospective cross-sectional study examined 53 children with the diagnosis of infantile epileptic spasms syndrome prior to an autism spectrum disorder assessment. Participants were divided into two groups based on the presence or absence of autism spectrum disorder. Available variables (sex, medications, median age at onset of infantile epileptic spasms syndrome, and presence of comorbidities) were compared using Mann-Whitney U or chi-square tests. RESULTS: Among the included patients, 12 (23 %) were diagnosed with autism spectrum disorder, corresponding to a relative risk of 0.29 (95 % confidence interval 0.174-0.492). The age at the first seizure ranged from 3 to 15 months, with a mean of 6.65 months. This age significantly differed between participants with autism spectrum disorder (10.58 months) and those without (5.43 months), p<0.001. CONCLUSION: Children with infantile epileptic spasms syndrome have a higher risk of being diagnosed with autism spectrum disorder. Later age of onset and period of spasm occurrence might be predisposing risk factors.
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Transtorno do Espectro Autista , Espasmos Infantis , Humanos , Estudos Retrospectivos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/complicações , Masculino , Feminino , Lactente , Brasil/epidemiologia , Estudos Transversais , Espasmos Infantis/epidemiologia , Fatores de Risco , Prevalência , Idade de Início , Pré-EscolarRESUMO
This study aimed to investigate the gut microbiota composition in children with autism spectrum disorder (ASD) compared to neurotypical (NT) children, with a focus on identifying potential differences in gut bacteria between these groups. The microbiota was analyzed through the massive sequencing of region V3-V4 of the 16S RNA gene, utilizing DNA extracted from stool samples of participants. Our findings revealed no significant differences in the dominant bacterial phyla (Firmicutes, Bacteroidota, Actinobacteria, Proteobacteria, Verrucomicrobiota) between the ASD and NT groups. However, at the genus level, notable disparities were observed in the abundance of Blautia, Prevotella, Clostridium XI, and Clostridium XVIII, all of which have been previously associated with ASD. Furthermore, a sex-based analysis unveiled additional discrepancies in gut microbiota composition. Specifically, three genera (Megamonas, Oscilibacter, Acidaminococcus) exhibited variations between male and female groups in both ASD and NT cohorts. Particularly noteworthy was the exclusive presence of Megamonas in females with ASD. Analysis of predicted metabolic pathways suggested an enrichment of pathways related to amine and polyamine degradation, as well as amino acid degradation in the ASD group. Conversely, pathways implicated in carbohydrate biosynthesis, degradation, and fermentation were found to be underrepresented. Despite the limitations of our study, including a relatively small sample size (30 ASD and 31 NT children) and the utilization of predicted metabolic pathways derived from 16S RNA gene analysis rather than metagenome sequencing, our findings contribute to the growing body of evidence suggesting a potential association between gut microbiota composition and ASD. Future research endeavors should focus on validating these findings with larger sample sizes and exploring the functional significance of these microbial differences in ASD. Additionally, there is a critical need for further investigations to elucidate sex differences in gut microbiota composition and their potential implications for ASD pathology and treatment.
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Transtorno do Espectro Autista , Microbioma Gastrointestinal , Humanos , Microbioma Gastrointestinal/genética , Transtorno do Espectro Autista/microbiologia , Transtorno do Espectro Autista/metabolismo , Feminino , Masculino , Criança , RNA Ribossômico 16S/genética , Bactérias/classificação , Bactérias/genética , Bactérias/metabolismo , Bactérias/isolamento & purificação , Fezes/microbiologia , Pré-Escolar , Fatores Sexuais , Caracteres Sexuais , Redes e Vias MetabólicasRESUMO
Autism spectrum disorder (ASD) is a common and highly heritable neurodevelopmental disorder. During the last 15 years, advances in genomic technologies and the availability of increasingly large patient cohorts have greatly expanded our knowledge of the genetic architecture of ASD and its neurobiological mechanisms. Over two hundred risk regions and genes carrying rare de novo and transmitted high-impact variants have been identified. Additionally, common variants with small individual effect size are also important, and a number of loci are now being uncovered. At the same time, these new insights have highlighted ongoing challenges. In this perspective article, we summarize developments in ASD genetic research and address the enormous impact of large-scale genomic initiatives on ASD gene discovery.
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Transtorno do Espectro Autista , Predisposição Genética para Doença , Genômica , Humanos , Fatores de Risco , Genômica/métodos , Transtorno do Espectro Autista/genética , Estudo de Associação Genômica Ampla , Transtorno Autístico/genética , Transtorno Autístico/etiologiaRESUMO
Introdução: O Transtorno do Espectro Autista (TEA) é um distúrbio do neurodesenvolvimento caracterizado por déficits na comunicação social, alterações de sensibilidade e dificuldades alimentares.Objetivo: Realizar uma revisão integrativa das alterações de deglutição em indivíduos com TEA.Métodos: A pesquisa foi realizada por meio de uma busca por artigos nacionais e internacionais, utilizando descritores para a pesquisa, bem como critérios de inclusão e exclusão para a seleção da amostra final. A estratégia PPOT foi utilizada para definir critérios de elegibilidade, incluindo população (crianças e adultos), preditor (diagnóstico de TEA), desfecho (relato ou diagnóstico de disfagia oral, faríngea ou esofágica) e tipo de estudo (estudos observatórios). A busca foi realizada no período de junho a agosto de 2023, nas bases de dados: Pubmed, Scopus, Embase e Google Scholar. Resultados: Foram selecionados dez estudos com pacientes diagnosticados com TEA que relataram sintomas de disfagia orofaríngea e esofágica, além de queixas sobre ingestão alimentar. Os estudos sugerem que crianças com TEA podem apresentar algum problema de disfunções motoras orais, frequência alimentar inadequada, padrões alimentares obsessivos, apresentação específica de determinados alimentos, seletividade alimentar e dificuldades de processamento sensorial. Conclusão: Conclui-se que não há evidências científicas robustas sobre a presença de disfagia em pacientes com TEA. (AU)
Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication, changes in sensitivity and eating difficulties. Objective: To carry out an integrative review of swallowing changes in individuals with ASD. Methods: The research was carried out through a search for national and international articles, using descriptors for the research, as well as inclusion and exclusion criteria for selecting the final sample. The PPOT strategy was used to define eligibility criteria, including population (children and adults), predictor (ASD diagnosis), outcome (report or diagnosis of dysphagia oral, pharyngeal or esophageal), and study type (observatory studies). The search was carried out from June to August 2023, in the databases: Pubmed, Scopus, Embase and Google Scholar. Results: Ten studies were selected with patients diagnosed with ASD who reported symptoms of oropharyngeal and esophageal dysphagia, in addition to complaints about food intake. Studies suggest that children with ASD may present problems with oral motor dysfunction, inadequate eating frequency, obsessive eating patterns, specific presentation of certain foods, food selectivity and sensory processing difficulties. Conclusion: It is concluded that there is no robust scientific evidence about the presence of dysphagia in patients with ASD. (AU)
Introducción: El Trastorno del Espectro Autista (TEA) es un trastorno del neurodesarrollo caracterizado por déficits en la comunicación social, cambios en la sensibilidad y dificultades alimentarias. Objetivo: Realizar una revisión integradora de los cambios en la deglución en individuos con TEA. Métodos: La investigación se realizó mediante una búsqueda de artículos nacionales e internacionales, utilizando descriptores para la investigación, así como criterios de inclusión y exclusión para la selección de la muestra final. La estrategia PPOT se utilizó para definir los criterios de elegibilidad, incluida la población (niños y adultos), el predictor (diagnóstico de TEA), el resultado (informe o diagnóstico de enfermedad oral, faríngea o esofágica) y el tipo de estudio (estudios observatorios). La búsqueda se realizó de junio a agosto de 2023, en las bases de datos: Pubmed, Scopus, Embase y Google Scholar. Resultados: Se seleccionaron diez estudios con pacientes diagnosticados de TEA que refirieron síntomas de disfagia orofaríngea y esofágica, además de quejas sobre la ingesta de alimentos. Los estudios sugieren que los niños con TEA pueden presentar problemas de disfunción motora oral, frecuencia inadecuada de alimentación, patrones alimentarios obsesivos, presentación específica de ciertos alimentos, selectividad alimentaria y dificultades en el procesamiento sensorial. Conclusión: Se concluye que no existe evidencia científica robusta sobre la presencia de disfagia en pacientes con TEA. (AU)
Assuntos
Humanos , Criança , Transtornos de Deglutição , Transtorno do Espectro AutistaRESUMO
Introduction. Autism spectrum disorder (ASD) is characterized by difficulties in social communication and repetitive and stereotyped behaviors. In addition to the diagnostic category, the activities performed by children and adolescents and their social involvement are the main aspects to be considered according to the International Classification of Functioning, Disability, and Health (ICF) proposed by the World Health Organization to describe health status. In a previous study, we developed the first version of a pediatric tool based on the ICF called ICF-ASD for the functional assessment of children and adolescents with ASD to capture functional characteristics adapted to our cultural setting. Our subsequent objective was to apply the ICF-ASD in a multicenter format to assess children and adolescents from different regions, review, and update it, and identify barriers and facilitators. Population and methods. The ICF-ASD version 1.0 was administered to children and adolescents younger than 16 years with a confirmed diagnosis of ASD (as per DSM-5 criteria), who were receiving follow-up at 5 children's health centers across Argentina. Results. Version 2.0 of the ICF-ASD was obtained, which included 34 categories (10 under body function, 15 under activities and participation, and 9 under environmental factors). A functional profile was developed for the whole sample (n = 308). Conclusions. The updated version of the ICF-ASD helps to standardize and systematize the collection of necessary data for an adequate follow-up of children and adolescents with ASD at a national level. It also allows to identify barriers to overcome and facilitators to be generalized.
Introducción. El trastorno del espectro autista (TEA) se caracteriza por dificultades de comunicación social y comportamientos repetitivos y estereotipados. Además de la categoría diagnóstica, las actividades que los niños, niñas y adolescentes (NNyA) pueden realizar y la participación social son los aspectos principales por considerar desde el marco de la Clasificación Internacional del Funcionamiento, la Discapacidad y la Salud (CIF), propuesta por la Organización Mundial de la Salud, para describir los estados de salud. En una investigación previa, elaboramos la primera versión de una herramienta pediátrica basada en la CIF llamada TEA-CIFunciona para evaluación funcional de NNyA con diagnóstico de TEA, que permitió captar características funcionales adaptadas a nuestro contexto cultural. Se propuso como objetivo posterior aplicar TEA-CIFunciona en formato multicéntrico para evaluar NNyA de diferentes regiones, revisar y actualizar la herramienta, e identificar barreras y facilitadores. Población y métodos. Se administró TEA-CIFunciona versión 1.0 a NNyA con diagnóstico confirmado de TEA (según criterios del DSM-5), menores de 16 años, en seguimiento en cinco centros de atención pediátrica del país. Resultados. Se obtuvo la versión 2.0 de TEA-CIFunciona con 34 categorías (10 funciones corporales, 15 actividades y participación, y 9 factores ambientales). Se elaboró el perfil funcional de la muestra completa (n = 308). Conclusiones. La versión actualizada de TEA-CIFunciona contribuye a estandarizar y a sistematizar la obtención de información necesaria para adecuar el seguimiento de los NNyA con TEA a nivel nacional. Además, permite identificar barreras por superar y facilitadores para generalizar.
Assuntos
Transtorno do Espectro Autista , Humanos , Argentina , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/classificação , Adolescente , Criança , Masculino , Feminino , Pré-Escolar , Classificação Internacional de Funcionalidade, Incapacidade e Saúde , Avaliação da DeficiênciaRESUMO
We investigated the influence of developmental and social factors on the age of autism diagnosis (AoD) in a cohort of toddlers living in Chile. A cross-sectional study was conducted among 509 preschool children diagnosed with autism spectrum disorder [M = 40.2 months (SD = 8.6), girls: 32%] in the neurodevelopmental unit of a university clinic in Santiago, Chile (2015-2023). Structural changes in the annual trend of AoD were tested. Generalized linear models (gamma distribution) with and without interaction terms were used for the multivariate analysis, adjusting for gender, residential area, year of diagnosis, developmental variables (language regression, delayed walking, and use of expressive verbal language), and primary caregiver age and education level (CEL). 95% confidence intervals of the unstandardized regression coefficients (B) were calculated using 1000 bootstrap resampling to estimate associations. AoD increased between 2021-2022 and decreased in 2023. Female gender (B = 2.72 [1.21-4.23]), no history of language regression (B = 3.97 [1.66-6.28]), and the presence of expressive verbal language at diagnosis (B = 1.57 [0.05-3.08]) were associated with higher AoD. Children whose caregivers had tertiary education were diagnosed earlier than those with ≤ 12 years of formal education. Although the influence of CEL increased with caregiver age, differences between CEL groups were significant only for caregivers aged ≥ 30 years. Improved education and early screening for clinical features of autism among healthcare professionals and the community, with a focus on young children without highly apparent developmental concerns and those from vulnerable social groups, are warranted.
RESUMO
Background: The prevalence of autism spectrum disorder (ASD) has significantly risen in the past three decades, prompting researchers to explore the potential contributions of environmental factors during pregnancy to ASD development. One such factor of interest is gestational hypothyroxinemia (HTX), a frequent condition in pregnancy associated with cognitive impairments in the offspring. While retrospective human studies have linked gestational HTX to autistic traits, the cellular and molecular mechanisms underlying the development of ASD-like phenotypes remain poorly understood. This study used a mouse model of gestational HTX to evaluate ASD-like phenotypes in the offspring. Methods: To induce gestational HTX, pregnant mice were treated with 2-mercapto-1-methylimidazole (MMI), a thyroid hormones synthesis inhibitor, in the tap-drinking water from embryonic days (E) 10 to E14. A separate group received MMI along with a daily subcutaneous injection of T4, while the control group received regular tap water during the entire pregnancy. Female and male offspring underwent assessments for repetitive, anxious, and social behaviors from postnatal day (P) 55 to P64. On P65, mice were euthanized for the evaluation of ASD-related inflammatory markers in blood, spleen, and specific brain regions. Additionally, the expression of glutamatergic proteins (NLGN3 and HOMER1) was analyzed in the prefrontal cortex and hippocampus. Results: The HTX-offspring exhibited anxious-like behavior, a subordinate state, and impaired social interactions. Subsequently, both female and male HTX-offspring displayed elevated proinflammatory cytokines in blood, including IL-1ß, IL-6, IL-17A, and TNF-α, while only males showed reduced levels of IL-10. The spleen of HTX-offspring of both sexes showed increased Th17/Treg ratio and M1-like macrophages. In the prefrontal cortex and hippocampus of male HTX-offspring, elevated levels of IL-17A and reduced IL-10 were observed, accompanied by increased expression of hippocampal NLGN3 and HOMER1. All these observations were compared to those observed in the Control-offspring. Notably, the supplementation with T4 during the MMI treatment prevents the development of the observed phenotypes. Correlation analysis revealed an association between maternal T4 levels and specific ASD-like outcomes. Discussion: This study validates human observations, demonstrating for the first time that gestational HTX induces ASD-like phenotypes in the offspring, highlighting the need of monitoring thyroid function during pregnancy.