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1.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Artigo em Espanhol | IBECS | ID: ibc-EMG-559

RESUMO

La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)


The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Tecnologia Educacional , Transtorno do Espectro Autista , Transtorno Autístico
2.
Siglo cero (Madr.) ; 54(4): 65-83, oct.-dic. 2024.
Artigo em Espanhol | IBECS | ID: ibc-229229

RESUMO

La falta de información sobre el uso de la tecnología en niños con trastorno del espectro autista (TEA) de diferentes perfiles puede dificultar que docentes y alumnos se estén beneficiando del apoyo tecnológico más eficaz y ajustado a sus necesidades. El objetivo de esta revisión fue analizar y sintetizar la evidencia científica sobre la eficacia de los recursos tecnológicos en la mejora de la comprensión emocional de estudiantes con TEA con perfiles de alto y bajo funcionamiento. Para ello se realizó una revisión sistemática de las publicaciones científicas indexadas en algunas de las bases de datos de mayor relevancia siguiendo los criterios establecidos en la declaración PRISMA. En total se analizaron 38 artículos que cumplieron con los criterios de inclusión preestablecidos. Los resultados muestran la importancia de diseñar sistemas versátiles que puedan personalizarse y adaptarse en tiempo real y en contextos naturales con un enfoque claramente inclusivo. Pero también sugieren que la tecnología puede no ser una herramienta de intervención complementaria adecuada para todos los niños con TEA. Lo que subraya la necesidad de ensayos adicionales bien controlados sobre las características que permitan identificar qué estudiantes podrían o no beneficiarse de diferentes modalidades de tecnología. (AU)


The lack of information on the use of technology in children with autism spectrum disorder (ASD) of different profiles can make it difficult for teachers and students to benefit from the most effective technology support tailored to their needs. The aim of this review was to analyze and synthesize scientific evidence on the effectiveness of technological resources in improving the emotional understanding of students with high and low functioning ASD profiles. A systematic review of the scientific publications indexed in some of the most relevant databases was carried out following the criteria established in the PRISMA declaration. A total of 38 articles that met the pre-established inclusion criteria were analyzed. The results show the importance of designing versatile systems that can be customized and adapted in real time and in natural contexts with a clearly inclusive approach. But they also suggest that technology may not be an appropriate complementary intervention tool for all children with ASD. This underlines the need for additional well-controlled tests on the characteristics that would allow identifying which students might or might not benefit from different technology modalities. (AU)


Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Tecnologia Educacional , Transtorno do Espectro Autista , Transtorno Autístico
3.
J Neurodev Disord ; 16(1): 53, 2024 Sep 09.
Artigo em Inglês | MEDLINE | ID: mdl-39251926

RESUMO

BACKGROUND: Fragile X syndrome (FXS) and autism spectrum disorder (ASD) are neurodevelopmental conditions that often have a substantial impact on daily functioning and quality of life. FXS is the most common cause of inherited intellectual disability (ID) and the most common monogenetic cause of ASD. Previous literature has shown that electrophysiological activity measured by electroencephalogram (EEG) during resting state is perturbated in FXS and ASD. However, whether electrophysiological profiles of participants with FXS and ASD are similar remains unclear. The aim of this study was to compare EEG alterations found in these two clinical populations presenting varying degrees of cognitive and behavioral impairments. METHODS: Resting state EEG signal complexity, alpha peak frequency (APF) and power spectral density (PSD) were compared between 47 participants with FXS (aged between 5-20), 49 participants with ASD (aged between 6-17), and 52 neurotypical (NT) controls with a similar age distribution using MANCOVAs with age as covariate when appropriate. MANCOVAs controlling for age, when appropriate, and nonverbal intelligence quotient (NVIQ) score were subsequently performed to determine the impact of cognitive functioning on EEG alterations. RESULTS: Our results showed that FXS participants manifested decreased signal complexity and APF compared to ASD participants and NT controls, as well as altered power in the theta, alpha and low gamma frequency bands. ASD participants showed exaggerated beta power compared to FXS participants and NT controls, as well as enhanced low and high gamma power compared to NT controls. However, ASD participants did not manifest altered signal complexity or APF. Furthermore, when controlling for NVIQ, results of decreased complexity in higher scales and lower APF in FXS participants compared to NT controls and ASD participants were not replicated. CONCLUSIONS: These findings suggest that signal complexity and APF might reflect cognitive functioning, while altered power in the low gamma frequency band might be associated with neurodevelopmental conditions, particularly FXS and ASD.


Assuntos
Transtorno do Espectro Autista , Eletroencefalografia , Síndrome do Cromossomo X Frágil , Humanos , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/complicações , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Síndrome do Cromossomo X Frágil/fisiopatologia , Síndrome do Cromossomo X Frágil/complicações , Pré-Escolar , Biomarcadores , Adulto
4.
J Neurodev Disord ; 16(1): 51, 2024 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-39232680

RESUMO

BACKGROUND: Individuals on the autism spectrum commonly have differences from non-autistic people in expressing their emotions using communicative behaviors, such as facial expressions. However, it is not yet clear if this reduced expressivity stems from reduced physiological reactivity in emotional contexts or if individuals react internally, but do not show these reactions externally to others. We hypothesized that autism is characterized by a discordance between in-the-moment internal psychophysiological arousal and external communicative expressions of emotion. METHODS: Forty-one children on the autism spectrum and 39 non-autistic, typically developing (TD) children of two age groups (2-4 and 8-12 years) participated in a low-level stress task whilst wearing a wireless electrocardiogram. Children's negative emotional expressions (facial, vocal, bodily) were coded following standardized protocols. Alexithymia traits were assessed using the Children's Alexithymia Measure with school-aged children only. Data analyses involved ANOVAs, correlations, and sensitivity analyses. RESULTS: There were no group differences in physiological arousal (heart rate) or in communicative expressions of stress to the stress task. For TD preschoolers, physiological arousal during the stress task was associated with vocal expressions and for TD school-aged children, they were associated with facial and bodily expressions. By contrast, for children on the autism spectrum, physiological arousal during the stress tasks was not associated with communicative expressions across age groups. CONCLUSIONS: Our findings suggest that children on the autism spectrum might experience emotional disconcordance, in that their physiological arousal does not align with their communicative expressions. Therefore, the internally experienced stress of children on the autism spectrum may be inadvertently missed by teachers and caregivers and, consequently, learning opportunities for teaching emotional communication and regulation may be also missed. Our results support the use of wearable biosensors to facilitate such interventions in children on the autism spectrum.


Assuntos
Transtorno do Espectro Autista , Emoções , Frequência Cardíaca , Humanos , Transtorno do Espectro Autista/fisiopatologia , Criança , Masculino , Feminino , Pré-Escolar , Emoções/fisiologia , Frequência Cardíaca/fisiologia , Estresse Psicológico/fisiopatologia , Sintomas Afetivos/fisiopatologia , Comunicação , Nível de Alerta/fisiologia , Expressão Facial
5.
Hum Brain Mapp ; 45(13): e70017, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39230055

RESUMO

Atypical social impairments (i.e., impaired social cognition and social communication) are vital manifestations of autism spectrum disorder (ASD) patients, and the incidence rate of ASD is significantly higher in males than in females. Characterizing the atypical brain patterns underlying social deficits of ASD is significant for understanding the pathogenesis. However, there are no robust imaging biomarkers that are specific to ASD, which may be due to neurobiological complexity and limitations of single-modality research. To describe the multimodal brain patterns related to social deficits in ASD, we highlighted the potential functional role of white matter (WM) and incorporated WM functional activity and gray matter structure into multimodal fusion. Gray matter volume (GMV) and fractional amplitude of low-frequency fluctuations of WM (WM-fALFF) were combined by fusion analysis model adopting the social behavior. Our results revealed multimodal spatial patterns associated with Social Responsiveness Scale multiple scores in ASD. Specifically, GMV exhibited a consistent brain pattern, in which salience network and limbic system were commonly identified associated with all multiple social impairments. More divergent brain patterns in WM-fALFF were explored, suggesting that WM functional activity is more sensitive to ASD's complex social impairments. Moreover, brain regions related to social impairment may be potentially interconnected across modalities. Cross-site validation established the repeatability of our results. Our research findings contribute to understanding the neural mechanisms underlying social disorders in ASD and affirm the feasibility of identifying biomarkers from functional activity in WM.


Assuntos
Transtorno do Espectro Autista , Substância Cinzenta , Imageamento por Ressonância Magnética , Imagem Multimodal , Substância Branca , Humanos , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/patologia , Masculino , Substância Cinzenta/diagnóstico por imagem , Substância Cinzenta/patologia , Adulto Jovem , Adulto , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Adolescente , Comportamento Social , Criança , Neuroimagem/métodos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encéfalo/fisiopatologia
6.
Bol Med Hosp Infant Mex ; 81(4): 195-209, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39236670

RESUMO

BACKGROUND: Parental stress experienced in the context of caring for children with autism spectrum disorder (ASD) in preschool is significant and has been poorly studied; studies tend to focus on more advanced ages of children where parental symptomatology has become chronic. The current study sought to provide new empirical evidence on factors associated with parental stress. METHODS: An exhaustive search was conducted in four academic databases: CINAHL Complete, Medline Complete, Web of Science (WoS), and Scopus, limiting the articles to those published between 2017 and 2023. RESULTS: The sample obtained consisted of 24 selected articles, which were produced in 11 countries, and all were in English. In terms of content, the topics addressed were the manifestation of parental stress, factors of the child with ASD and their relationship with parental stress, factors of parents of children with ASD, family factors of parents of children with ASD, social factors of parents of children with ASD, parental stress and access to formal care services, and parental stress and specialized interventions. CONCLUSIONS: It is possible to affirm that research reports indicate that the general level of stress among parents of children with ASD is compared to their reference groups, both in relation to child-related stress and other stressors. The variables that affect parental stress exhibit a reciprocal influence among them, so interventions aimed at early childhood should incorporate both the children and their parental figures. This is in consideration of the impact that stress has on the mental health of parents, establishing that parents with better health have early access to support services during the early years of parenting, as well as in later years.


INTRODUCCIÓN: El estrés parental vivenciado en el contexto de cuidado de los niños con trastorno del espectro autistas en etapa preescolar es significativo y ha sido muy poco estudiado, las investigaciones tienden a focalizarse en edades de los niños más avanzada donde la sintomatología de los padres se ha cronificado. El objetivo de la presente investigación fue actualizar el corpus de evidencia empírica referida a los factores relacionados con el Estrés parental. MÉTODOS: Se realizó una búsqueda exhaustiva en cuatro bases de datos académicas: CINAHL Complete, Medline Complete, Web of Science (WoS) y Scopus, limitando los artículos publicados entre los años 2017 y 2023. RESULTADOS: La muestra obtenida fue de 24 artículos seleccionados, los cuales fueron producidos por 11 países todos de habla inglesa. En cuanto al contenido, los temas abordados son: La manifestación del estrés parental, factores del niño con TEA y su relación con el estrés parental, factores de los padres de los niños con TEA, factores familiares de los padres de los niños con TEA, factores sociales de los padres de los niños con TEA, estrés parental y acceso a los servicios formales de atención, y estrés parental e intervenciones especializadas. CONCLUSIONES: Es posible afirmar que las investigaciones reportan que el nivel general de estrés de los padres de niños con TEA es superior al de sus grupos de referencia, tanto en relación al estrés relacionado con el niño, como el que no. Las variables que afectan el estrés parental presentan una influencia recíproca entre éstas, por lo que las intervenciones dirigidas a la primera infancia deberían incorporar a los niños y a sus figuras parentales. Esto, en atención al impacto que el estrés presenta en la salud mental de los padres, estableciendo que los padres con mejor salud mental presentan mayor acceso temprano a los servicios de apoyo durante los primeros años de crianza, y en los años posteriores.


Assuntos
Transtorno do Espectro Autista , Pais , Estresse Psicológico , Humanos , Pais/psicologia , Pré-Escolar , Acessibilidade aos Serviços de Saúde
7.
J Spec Pediatr Nurs ; 29(4): e12438, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39243154

RESUMO

PURPOSE: To explore actions taken by health care professionals during a procedure with a child with autism spectrum disorder DESIGN AND METHOD: Critical incident technique was used, which is a technique with a qualitative descriptive retrospective design, to capture situations experienced by health care professionals during a procedure in an anaesthesia or radiology department. Health care professionals from anaesthesia and radiology departments (n = 20) were interviewed about situations affecting the procedure. RESULTS: The findings revealed a broad range of actions (n = 205) taken by the health care professionals during a procedure with a child with autism spectrum disorder. The analysis resulted in two main areas: Finding a way to facilitate a procedure in a high technology environment and Creating a trustful relationship with a child with autism spectrum disorder. The most common action in the first area, was to adjust routines. In the second area the most common action was to take one step at a time and not force or rush the child during the procedure. PRACTICE IMPLICATIONS: The health care professionals used a broad range of different actions to facilitate a procedure in the high technology environment for a child with ASD, which indicates the need for a flexible approach. The actions taken included both adjustments to the environment and enhancing interactions with the child.


Assuntos
Transtorno do Espectro Autista , Humanos , Masculino , Feminino , Criança , Estudos Retrospectivos , Pré-Escolar , Pessoal de Saúde/psicologia , Pesquisa Qualitativa , Adulto
9.
Mol Autism ; 15(1): 37, 2024 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-39252047

RESUMO

BACKGROUND: Autism and schizophrenia spectrum disorders (SSDs) both feature atypical social cognition. Despite evidence for comparable group-level performance in lower-level emotion processing and higher-level mentalizing, limited research has examined the neural basis of social cognition across these conditions. Our goal was to compare the neural correlates of social cognition in autism, SSDs, and typically developing controls (TDCs). METHODS: Data came from two harmonized studies in individuals diagnosed with autism or SSDs and TDCs (aged 16-35 years), including behavioral social cognitive metrics and two functional magnetic resonance imaging (fMRI) tasks: a social mirroring Imitate/Observe (ImObs) task and the Empathic Accuracy (EA) task. Group-level comparisons, and transdiagnostic analyses incorporating social cognitive performance, were run using FSL's PALM for each task, covarying for age and sex (1000 permutations, thresholded at p < 0.05 FWE-corrected). Exploratory region of interest (ROI)-based analyses were also conducted. RESULTS: ImObs and EA analyses included 164 and 174 participants, respectively (autism N = 56/59, SSD N = 50/56, TDC N = 58/59). EA and both lower- and higher-level social cognition scores differed across groups. While canonical social cognitive networks were activated, no significant whole-brain or ROI-based group-level differences in neural correlates for either task were detected. Transdiagnostically, neural activity during the EA task, but not the ImObs task, was associated with lower- and higher-level social cognitive performance. LIMITATIONS: Despite attempting to match our groups on age, sex, and race, significant group differences remained. Power to detect regional brain differences is also influenced by sample size and multiple comparisons in whole-brain analyses. Our findings may not generalize to autism and SSD individuals with co-occurring intellectual disabilities. CONCLUSIONS: The lack of whole-brain and ROI-based group-level differences identified and the dimensional EA brain-behavior relationship observed across our sample suggest that the EA task may be well-suited to target engagement in novel intervention testing. Our results also emphasize the potential utility of cross-condition approaches to better understand social cognition across autism and SSDs.


Assuntos
Imageamento por Ressonância Magnética , Cognição Social , Humanos , Masculino , Feminino , Adulto , Adolescente , Adulto Jovem , Encéfalo/diagnóstico por imagem , Encéfalo/fisiopatologia , Esquizofrenia/fisiopatologia , Esquizofrenia/diagnóstico por imagem , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/psicologia , Transtorno Autístico/fisiopatologia , Transtorno Autístico/psicologia , Mapeamento Encefálico , Estudos de Casos e Controles
10.
J Med Case Rep ; 18(1): 422, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-39232847

RESUMO

BACKGROUND: Helsmoortel-Van der Aa syndrome was officially documented in 2014. Helsmoortel-Van der Aa syndrome is an extremely rare complex neurodegenerative disorder characterized by reduced intellectual capacity, motor dysfunction, facial dysmorphism, impaired development, and an increased predisposition to autism spectrum disorder. In addition, many patients also present with neuropsychiatric disorders, including attention deficit hyperactivity disorder, anxiety disorders, and various behavioral abnormalities. Helsmoortel-Van der Aa syndrome is challenging to identify solely on the basis of symptoms, and genetic investigations, including exome sequencing, may facilitate diagnosis. CASE PRESENTATION: We report a case of 13-year-old Saudi patient who presented with dysmorphic features as illustrated in Fig. 1, severe mental retardation, autism spectrum disorder, and attention deficit hyperactivity disorder. Initial genetic testing was unremarkable; thus, a clinical exome analysis was performed to identify the genetic basis of the condition. CONCLUSIONS: Clinical exome analysis indicated an autosomal dominant Helsmoortel-Van der Aa syndrome with a likely pathogenic de novo variant within the activity-dependent neuroprotector homeobox (ADNP) gene not previously reported in Helsmoortel-Van der Aa syndrome. The patient had a right-sided solitary kidney and polycystic ovaries, conditions that were not previously associated with HVDAS.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual , Síndrome do Ovário Policístico , Rim Único , Humanos , Feminino , Adolescente , Transtorno do Espectro Autista/genética , Síndrome do Ovário Policístico/complicações , Síndrome do Ovário Policístico/genética , Síndrome do Ovário Policístico/diagnóstico , Deficiência Intelectual/genética , Rim Único/complicações , Sequenciamento do Exoma , Proteínas do Tecido Nervoso/genética , Proteínas de Homeodomínio/genética , Cardiopatias , Fácies , Transtornos do Neurodesenvolvimento
11.
JAMA Netw Open ; 7(9): e2431543, 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39230900

RESUMO

Importance: Neurodevelopmental disorders (NDDs) such as autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are increasingly common. Individuals with NDDs have heightened obesity risks, but long-term data on body mass index (BMI) trends over time in this population are lacking. Objective: To assess secular BMI changes from 2004 to 2020 among children with NDDs compared with those without NDDs. Design, Setting, and Participants: This repeated cross-sectional study used data from the Child and Adolescent Twin Study in Sweden. Children born between January 1, 1992, and December 31, 2010, were screened for neurodevelopmental symptoms using the Autism-Tics, ADHD, and Other Comorbidities inventory between July 2004 and April 2020 when they were 9 or 12 years of age. Data analysis was conducted between September 27, 2023, and January 30, 2024. Main Outcomes and Measures: BMI percentiles (15th, 50th, and 85th) were modeled using quantile regression and compared between youths with and without NDDs. Secular changes in BMI percentiles over time spanning 2004 to 2020 were evaluated and stratified by NDD subtype. Results: The cohort included 24 969 Swedish twins (12 681 [51%] boys) born between 1992 and 2010, with mean (SD) age of 9 (0.6) years. Of these, 1103 (4%) screened positive for 1 or more NDDs, including ADHD, ASD, and/or learning disability. Results indicated that at the 85th BMI percentile, there was a greater increase in BMI from 2004 to 2020 among youths with NDDs compared with those without NDDs (ß for interaction [ßint] between NDD status and time, 1.67; 95% CI, 0.39-2.90). The greatest divergence was seen for ASD (ßint, 2.12; 95% CI, 1.26-3.70) and learning disability (ßint, 1.92; 95% CI, 0.65-3.82). Within the latest cohort (2016-2020), the 85th BMI percentile was 1.99 (95% CI, 1.08-2.89) points higher among children with NDDs compared with those without NDDs. Conclusions and Relevance: In this repeated cross-sectional study, at the higher end of the BMI distribution, children with NDDs had significantly greater increases in BMI compared with peers without NDDs over a 16-year period, highlighting an increasing risk of overweight over time in youths with NDDs compared with those without NDDs. Targeted obesity prevention efforts for this high-risk population are needed.


Assuntos
Índice de Massa Corporal , Transtornos do Neurodesenvolvimento , Humanos , Feminino , Masculino , Criança , Estudos Transversais , Suécia/epidemiologia , Transtornos do Neurodesenvolvimento/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Adolescente , Obesidade Infantil/epidemiologia
12.
Sci Rep ; 14(1): 20416, 2024 09 02.
Artigo em Inglês | MEDLINE | ID: mdl-39223259

RESUMO

Autism spectrum disorders (ASD) are complex neurodevelopmental conditions characterized by impairments in social communication, repetitive behaviors, and restricted interests. Epigenetic modifications serve as critical regulators of gene expression playing a crucial role in controlling brain function and behavior. Lysine (K)-specific demethylase 6B (KDM6B), a stress-inducible H3K27me3 demethylase, has emerged as one of the highest ASD risk genes, but the precise effects of KDM6B mutations on neuronal activity and behavioral function remain elusive. Here we show the impact of KDM6B mosaic brain knockout on the manifestation of different autistic-like phenotypes including repetitive behaviors, social interaction, and significant cognitive deficits. Moreover, KDM6B mosaic knockout display abnormalities in hippocampal excitatory synaptic transmission decreasing NMDA receptor mediated synaptic transmission and plasticity. Understanding the intricate interplay between epigenetic modifications and neuronal function may provide novel insights into the pathophysiology of ASD and potentially inform the development of targeted therapeutic interventions.


Assuntos
Transtorno do Espectro Autista , Histona Desmetilases com o Domínio Jumonji , Camundongos Knockout , Transmissão Sináptica , Animais , Histona Desmetilases com o Domínio Jumonji/genética , Histona Desmetilases com o Domínio Jumonji/metabolismo , Transmissão Sináptica/genética , Transtorno do Espectro Autista/genética , Camundongos , Encéfalo/metabolismo , Plasticidade Neuronal/genética , Comportamento Animal , Hipocampo/metabolismo , Epigênese Genética , Masculino , Sinapses/metabolismo
13.
BMC Public Health ; 24(1): 2388, 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39223561

RESUMO

BACKGROUND: Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental condition affecting communication, social interaction, and behavior. Evidence suggests that environmental pollutants are associated with ASD incidence. This review aimed to analyze the effect of environmental pollutants on ASD. METHODS: Systematic review and meta-analysis of cohort studies evaluated the association between exposure to environmental pollutants and ASD. We searched COCHRANE CENTRAL, MEDLINE, CINAHL, LILACS, EMBASE, PsycINFO, Web of Science, SciELO, and gray literature from inception to January 2023. The model used for meta-analysis was inverse variance heterogeneity (IVhet). The effect measures were the beta coefficient (ß) and the relative risk (RR) with their 95% confidence intervals (95% CI). Sensitivity analyses were carried out using an instrument to screen or diagnose autism. RESULTS: A total of 5,780 studies were identified; 27 were included in the systematic review, and 22 were included in the meta-analysis. These studies included 1,289,183 participants and 129 environmental pollutants. Individual meta-analyses found a significant association between nitrogen dioxide RR = 1.20 (95% CI: 1.03 to 1.38; I2: 91%), copper RR = 1.08 (95% CI: 1.03 to 1.13; I2: 0%), mono-3-carboxy propyl phthalate ß = 0.45 (95% CI: 0.20 to 0.70; I2: 0%), monobutyl phthalate ß = 0.43 (95% CI: 0.13 to 0.73; I2: 0%) and polychlorinated biphenyl (PCB) 138 RR = 1.84 (95% CI: 1.14 to 2.96; I2:0%) with ASD. Subgroup meta-analyses found a significant association with carbon monoxide RR = 1.57 (95% CI: 1.25 to 1.97; I2: 0%), nitrogen oxides RR = 1.09 (95% CI: 1.04 to 1.15; I2: 34%) and metals RR = 1.13 (95% CI: 1.01 to 1.27; I2:24%). CONCLUSION: This study found positive associations nitrogen dioxide, copper, mono-3-carboxypropyl phthalate, monobutyl phthalate, and PCB 138, and the development of ASD, likewise, with subgroups of pollutants carbon monoxide, nitrogen oxides, and metals. Therefore, it is important to identify these risk factors in children and adolescents to contribute to ASD and identify prevention strategies effectively.


Assuntos
Transtorno do Espectro Autista , Poluentes Ambientais , Humanos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/induzido quimicamente , Poluentes Ambientais/efeitos adversos , Poluentes Ambientais/toxicidade , Fatores de Risco , Estudos de Coortes , Exposição Ambiental/efeitos adversos , Criança , Feminino
14.
Codas ; 36(5): e20230291, 2024.
Artigo em Português, Inglês | MEDLINE | ID: mdl-39230180

RESUMO

OBJECTIVE: to analyze the scientific literature on distance education programs for parents/caregivers in the development of children with Autism Spectrum Disorder (ASD). RESEARCH METHOD: the PICO strategy was used to identify the research problem. The databases Medline, ERIC, LILACs, EMBASE, CINAHL, Web of Science, and Scopus were searched using specific descriptors and free terms. There were no restrictions on time or language. Articles on online educational programs for parents of children with ASD were selected, focusing on the impact of these programs on the development of children up to six years old. SELECTION CRITERIA: studies were selected based on standard eligibility criteria, including full-text reading after initial screening using the RAYYAN software. Primary studies such as clinical trials and systematic reviews evaluating distance education programs for parents of children with ASD were included. DATA ANALYSIS: the RAYYAN software was used for initial study selection. Articles were hierarchically organized based on title and abstract, followed by full-text reading to apply eligibility criteria. RESULTS: the initial search yielded 1019 articles, of which 192 were identified as duplicates. After initial screening and full-text reading, 37 articles were analyzed, of which six were deemed eligible to answer the research question. Among the eligible studies, one was a systematic review and five were experimental studies. Experimental studies highlighted positive impacts on areas such as daily routines, behavioral flexibility, and communication. The systematic review provided preliminary evidence that distance education programs for parents can enhance knowledge about ASD, increase adherence to interventions, and foster the development of social and communication skills in children. CONCLUSION: the findings suggest that remote parent guidance programs may effectively improve knowledge about ASD, increase parent adherence to interventions, and promote the development of social and communication skills in children with ASD.


OBJETIVO: analisar a produção científica sobre programas educativos à distância para pais/responsáveis no desenvolvimento de crianças com Transtorno do Espectro Autista (TEA). ESTRATÉGIA DE PESQUISA: utilizou-se a estratégia PICO para identificar o problema de pesquisa. Foram consultadas as bases de dados Medline, ERIC, LILACs, EMBASE, CINAHL, Web of Science e Scopus utilizando descritores e termos livres específicos. não houve restrição de tempo ou idioma. Foram selecionados artigos sobre programas educativos online destinados a pais de crianças com TEA, com foco no impacto desses programas no desenvolvimento de crianças de até seis anos. CRITÉRIOS DE SELEçÃO: os estudos foram selecionados com base em critérios de elegibilidade padrões, incluindo a leitura completa dos artigos após a triagem inicial realizada com o software RAYYAN. Foram incluídos estudos primários, como ensaios clínicos e revisões sistemáticas que avaliaram programas educativos à distância para pais de crianças com TEA. ANÁLISE DOS DADOS: utilizou-se o software RAYYAN para a seleção inicial dos estudos. Os artigos foram organizados hierarquicamente com base no título e resumo, seguido pela leitura integral para aplicação dos critérios de elegibilidade. RESULTADOS: a busca inicial resultou em 1019 artigos, dos quais 192 foram identificados como duplicados. Após a seleção inicial e a leitura completa, 37 artigos foram analisados, dos quais seis foram considerados elegíveis para responder à pergunta de pesquisa. Entre os estudos elegíveis, um era uma revisão sistemática e cinco eram estudos experimentais. Os estudos experimentais destacaram impactos positivos em áreas como rotinas diárias, flexibilidade comportamental e comunicação. A revisão sistemática indicou evidências preliminares de que os programas educativos à distância para pais podem melhorar o conhecimento sobre TEA, aumentar a adesão às intervenções e promover o desenvolvimento de habilidades sociais e de comunicação nas crianças. CONCLUSÃO: os resultados sugerem que programas remotos de orientação para pais podem ser eficazes para melhorar o conhecimento sobre TEA, aumentar a adesão dos pais às intervenções e promover o desenvolvimento de habilidades sociais e de comunicação em crianças com TEA.


Assuntos
Transtorno do Espectro Autista , Educação a Distância , Pais , Humanos , Transtorno do Espectro Autista/diagnóstico , Pais/educação , Criança , Avaliação de Programas e Projetos de Saúde , Pré-Escolar
15.
Prax Kinderpsychol Kinderpsychiatr ; 73(5): 416-431, 2024 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-39221945

RESUMO

Autism in Systemic Group Psychotherapy: "Strong Together" a Care Model for Children and Adolescents from Practice Awareness of people with autism in our society is constantly increasing. Nevertheless, ambiguities and caution in dealing with autistic clients are still tangible. Due to the growing demand, there is a shortage of care for clients on the autism spectrum. This applies in particular to group therapy services in German-speaking countries. However, the international AWMF guidelines state that group therapy is the therapy method of choice for children and adolescents with autistic perception. In order to counteract this gap in care, this article presents a systemic group therapy for autistic people. It explains the extent to which the systemic approach in combination with a multimodal approach is a beneficial approach. It also highlights the importance of expanding the range of care services, interdisciplinary cooperation, and exchange. The compatibility of practice and research in systemic psychotherapy will be explained, teamwork in private practice will be emphasized, therapeutic experiences will be shared and an outlook on ongoing evaluation research will be presented.


Assuntos
Transtorno do Espectro Autista , Colaboração Intersetorial , Psicoterapia de Grupo , Humanos , Psicoterapia de Grupo/métodos , Criança , Adolescente , Transtorno do Espectro Autista/terapia , Transtorno do Espectro Autista/psicologia , Comunicação Interdisciplinar , Terapia Combinada , Alemanha , Comportamento Cooperativo , Equipe de Assistência ao Paciente , Prática Privada
16.
Multimedia | Recursos Multimídia, MULTIMEDIA-SMS-SP | ID: multimedia-13702
17.
Neuropharmacology ; 260: 110134, 2024 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-39208979

RESUMO

Autism spectrum disorders (ASD) are highly heterogeneous neurodevelopmental diseases. Epidemiological data report that males have been diagnosed with autism more frequently than females. However, recent studies hypothesize that females' low incidence might be underestimated due to standard clinical measures of ASD behavioural symptoms, mostly derived from males. Indeed, up to now, ASD mouse models focused mainly on males, considering the prevalence of the diagnosis in that sex. Regarding ASD aetiopathogenesis, it has been recently reported that oxidative stress might be implicated in its onset and development, suggesting an association with ASD typical repetitive behaviours that still need to be disentangled. Here, we investigated possible behavioural and molecular sex-related differences by using the BTBR mouse model of idiopathic ASD. To this aim, animals were exposed to behavioural tests related to different ASD core symptoms and comorbidities, i.e. stereotyped repertoire, social dysfunctions, hyperlocomotion and risk-taking behaviours. Moreover, we analyzed hippocampal levels of pro-oxidant and anti-oxidant enzymes, together with biomarkers of oxidative stress and lipid peroxidation. Our results showed that BTBR females did not display the same patterns for repetitive behaviours as the male counterpart. From a biomolecular point of view, we found an increase in oxidative stress and pro-oxidant enzymes, accompanied by deficient enzymatic anti-oxidant response, only in BTBR males compared to C57BL/6 male mice, while no differences were retrieved in females. Overall, our study suggests that in females there is an urgent need to depict the distinct ASD symptomatology, accompanied by the identification of sex-specific pharmacological targets.


Assuntos
Transtorno do Espectro Autista , Modelos Animais de Doenças , Hipocampo , Estresse Oxidativo , Caracteres Sexuais , Animais , Transtorno do Espectro Autista/metabolismo , Hipocampo/metabolismo , Feminino , Masculino , Camundongos , Estresse Oxidativo/fisiologia , Comportamento Estereotipado/fisiologia , Comportamento Estereotipado/efeitos dos fármacos , Oxirredução , Comportamento Animal/fisiologia , Camundongos Endogâmicos C57BL , Peroxidação de Lipídeos/fisiologia , Assunção de Riscos
18.
J Psychiatr Res ; 178: 107-113, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39128219

RESUMO

In the field of autism spectrum disorder (ASD), research on functional connectivity between gray matter and white matter remains under-researched. To address this gap, this study innovatively introduced a nested cross-validation method that integrates gray-white matter functional connectivity with an F-Score algorithm. This method calculates the correlation based on signals extracted from functional magnetic resonance imaging data using gray matter and white matter brain region templates. After applying the method to a New York University Langone Medical Center dataset consisting of 55 individuals with high-functioning ASD and 52 healthy subjects, we achieved a classification accuracy of 72.94%. This study found abnormal functional connectivity, primarily involving the left anterior prefrontal cortex and right superior corona radiata, left retrosplenial cortex and left superior corona radiata, as well as the left ventral anterior cingulate cortex and body of corpus callosum. Besides, we discovered that these abnormal connections are closely related to social impairment and restrictive and repetitive behaviors in ASD. In conclusion, this study provides a gray-white matter functional connectivity perspective for the diagnosis and understanding of ASD.


Assuntos
Transtorno do Espectro Autista , Substância Cinzenta , Imageamento por Ressonância Magnética , Substância Branca , Humanos , Transtorno do Espectro Autista/diagnóstico por imagem , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/patologia , Masculino , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Substância Cinzenta/diagnóstico por imagem , Substância Cinzenta/patologia , Substância Cinzenta/fisiopatologia , Feminino , Adulto , Adulto Jovem , Adolescente , Criança , Rede Nervosa/diagnóstico por imagem , Rede Nervosa/fisiopatologia
19.
Neuropharmacology ; 260: 110101, 2024 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-39128583

RESUMO

Autism spectrum disorder (ASD) has proven to be highly enigmatic due to the diversity of its underlying genetic causes and the huge variability in symptom presentation. Uncovering common phenotypes across people with ASD and pre-clinical models allows us to better understand the influence on brain function of the many different genetic and cellular processes thought to contribute to ASD aetiology. One such feature of ASD is the convergent evidence implicating abnormal functioning of the medial prefrontal cortex (mPFC) across studies. The mPFC is a key part of the 'social brain' and may contribute to many of the changes in social behaviour observed in people with ASD. Here we review recent evidence for mPFC involvement in both ASD and social behaviours. We also highlight how pre-clinical mouse models can be used to uncover important cellular and circuit-level mechanisms that may underly atypical social behaviours in ASD. This article is part of the Special Issue on "PFC circuit function in psychiatric disease and relevant models".


Assuntos
Transtorno do Espectro Autista , Córtex Pré-Frontal , Comportamento Social , Córtex Pré-Frontal/fisiopatologia , Humanos , Animais , Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Vias Neurais/fisiopatologia , Modelos Animais de Doenças , Camundongos , Rede Nervosa/fisiopatologia , Transtorno Autístico/fisiopatologia , Transtorno Autístico/psicologia
20.
Georgian Med News ; (350): 36-41, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-39089268

RESUMO

Methionine sulfoxide reductase A (MsrA) is an antioxidant enzyme that repairs the oxidation of methionine residues in proteins and free methionine in autism spectrum disorder (ASD). The present study aimed to assess the level of MsrA and neurotransmission enzymes in ASD individuals. Results confirmed that ASD associated with significant (P<0.05) reduction of MsrA and modulated mission enzymes. The role of MsrA as repair enzyme should be taken into account for study the activity of brain enzymes and proteins in ASD including ASMT that has a role in melatonin problems production in ASD due to higher AANAT level. The influence of MsrA also should be studied with MAT in mice to give more evidence.


Assuntos
Transtorno do Espectro Autista , Metionina Sulfóxido Redutases , Humanos , Transtorno do Espectro Autista/enzimologia , Metionina Sulfóxido Redutases/metabolismo , Metionina Sulfóxido Redutases/genética , Masculino , Feminino , Transmissão Sináptica , Criança , Melatonina/metabolismo , Adolescente , Pré-Escolar , Adulto , Estudos de Casos e Controles , 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/metabolismo , 5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética
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