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Objective To observe the effect of therapeutic listening on social interaction function in children with autism spectrum(ASD)disorder. Methods From January,2022 to January,2023,40 ASD children in Beijing Bo'ai Hospital were randomly divided into group A(n = 20)and group B(n = 20).Both groups received routine rehabilitation and occupational therapy,while group B received therapeutic listening as occupational therapy,for eight weeks.They were assessed with Pediatric Evaluation of Disability Inventory(PEDI),Childhood Autism Rating Scale(CARS),Autism Behavior Checklist(ABC),Peabody Developmental Motor Scales 2(PDMS-2)and Canadian Occupational Performance Measure(COPM)before and after treatment. Results All the indexes improved in both groups after treatment(|t|>3.194,P<0.01),and they were better in group A than in group B(|t|>2.122,P<0.05),except the score of ABC. Conclusion Combination of therapeutic listening is more effective on sensory processing and social interaction in ASD children.
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This paper explored the disease mechanism of autism spectrum disorders (ASD) from the perspectives of “vital activity” and “qi configuration”, and it is believed that “vital activity” represents the internal regulatory mechanisms of the human body, while “qi configuration” represents the ability of the body to communicate and adapt to the external environment. Abnormal genetic factors lead to the extinction of vital activity in children with ASD, resulting in increased susceptibility to ASD. Environmental instability leads to the solitary qi configuration in ASD, triggering and exacerbating the manifestations of ASD on the basis of genetic susceptibility. In addition, epigenetic mechanisms also play an important role in the pathogenesis of ASD. Imbalances in vital activity and disruptions in qi configuration result in failure in qi transformation of zang-fu organs, with abnormal symptoms manifested through the five orifices. It is proposed that the treatment of ASD should aim to achieve a harmonious interaction between “vital activity” and “qi configuration” to accelerate the recovery of affected children.
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ABSTRACT Objective: The aim of this study was to compare the social cognition profiles of male adults with ASD (n = 15), SCHZ (n = 16) and controls (n = 20). Change the second sentence of the abstract. Methods: A cross-sectional assessment of social cognition domains with emotional face perception with eye tracking was performed, and two IQ measures (Verbal IQ and Performance IQ) (Wechsler Adult Intelligence Scale), and the DSM-IV Structured Clinical Interview were applied. Results: There were no significant differences in terms of average performance in social cognition tests or eye tracking tasks between the ASD and SCHZ groups. However, both had lower performances in most cases when compared to the control group. In the social cognition tasks, individuals in the control group performed better than both clinical groups. Conclusion: Although differences were identified between individuals with ASD and SCHZ, it was not possible to determine patterns or to differentiate the clinical groups.
RESUMO Objetivo: O objetivo deste estudo foi comparar os perfis de cognição social de adultos do sexo masculino com TEA (n = 15), SCHZ (n = 16) e controles (n = 20). Métodos: Foram aplicadas uma avaliação transversal dos domínios de cognição social com percepção emocional com rastreamento ocular, duas medidas de QI (QI verbal e QI de desempenho) (Escala de Inteligência Adulta de Wechsler) e a Entrevista Clínica Estruturada DSM-IV. Resultados: Não houve diferenças significativas em termos de desempenho médio em testes de cognição social ou tarefas de rastreamento ocular entre os grupos ASD e SCHZ. No entanto, ambos tiveram desempenhos mais baixos na maioria dos casos, quando comparados ao grupo controle. Nas tarefas de cognição social, os indivíduos do grupo controle tiveram melhor desempenho do que ambos os grupos clínicos. Conclusão: Embora tenham sido identificadas diferenças entre indivíduos com TEA e SCHZ, não foi possível determinar padrões ou diferenciar os grupos clínicos.
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Autism spectrum disorders(ASD)is an important disease in children′s neuropsychic development disorder.The incidence rate is increasing now, which brings heavy burden to family and society.Functional studies of ASD related different single gene mutation models have showed that these overlapping phenotypes shared the common mechanism of the homeostatic synaptic plasticity impairment.Retinoic acid receptor α(RARα)regulate synaptic plasticity of the nervous system in both directions, through glutamate receptor subunit 1(GluR1)translation and RARα/mTOR signaling pathway, and affect the integration of sensory information and situational adaptive learning, and then affect the learning and memory function and neural synaptic signal network through the growth of dendritic spines.These researches suggest that RARα may work as a potential drug target for ASD, playing an important role in stable regulation of homeostatic synaptic plasticity, which is helpful for molecular typing accurate diagnosis and treatment of ASD.
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Neurodevelopmental disorder (NDD) is a kind of chronic developmental brain dysfunction disease, with strong phenotypic heterogeneity, complex etiology, strong heredity, most of which lack effective drug treatment, and high incidence rate and disability rate. With the advancement of detection technology, more and more mechanisms of NDD have been discovered, driving the progress of its drug treatment. Strengthening research on the pathogenesis of NDD in the future will contribute to the development of better treatments, thereby improving the quality of life and prognosis of patients.
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Context and objective. Autism spectrum disorders (ASD) in sub-Saharan African (SSA) countries are poorly studied. The aim of the present study was to describe the socio demographic and clinical characteristics of children with autism and to identify associated factors. Methods. This was a cross-sectional study of children with ASD attended at three specialized centers in Kinshasa. We confirmed a ASD diagnosis through clinical observation using Diagnostic and Statistical Manuel of Mental Disorders four Text Revision (DSM-VI-TR) criteria and standardized autism diagnostic tools. We analyzed socio-demographic and clinical characteristics and main comorbidities of ASD. The comparison of proportions was done using Pearson's chi-square test. One-way ANOVAs were calculated to test differences in averages. Results. A total of 120 children (72.5 % male) were examined. Their mean age at diagnosis was 7.83 ± 3.4 years, while parents were alerted at 1.8 ±0.78 years. Language delays were the main alert sign (54%) and the main symptom (62%). Social interaction disorders (11.7 %) were underreported by parents. The core signs of ASD were disorders of social interaction (90.5%), behavior (80%) and language (62.5%). The main ASD symptoms were associated with epilepsy(p=0.027), cerebral palsy (p=0.026) and hearing impairment (p=0.045). Conclusion. The diagnostic and language delay co-occurring with epilepsy and hearing impairment are the main clinical features of autism in the DRC. This study suggests that screening children for autism and its main comorbidities using a multidisciplinary approach should be a priority in Kinshasa.
Subject(s)
Autistic Disorder , Comorbidity , Cross-Sectional Studies , Autism Spectrum Disorder , Language Development DisordersABSTRACT
Resumo A intervenção precoce centrada na família tem sido considerada entre os pesquisadores como o atual paradigma para o cuidado à infância. Este artigo tem por objetivo apresentar e discutir percepções de familiares sobre as práticas de intervenção precoce e participação ativa da família, realizadas pela equipe de um Centro Especializado de Reabilitação (CER) no atendimento de crianças com Transtorno do Espectro Autista (TEA). Participaram da pesquisa nove familiares de crianças com TEA, de zero a quatro anos e 11 meses, inseridas no serviço. Foram realizadas entrevistas com os participantes para investigar o conhecimento das famílias e suas expectativas sobre a participação nas intervenções, e após a coleta de dados foi feito a análise temática de conteúdo. A prática da equipe desse serviço não está relacionada exclusivamente a um único modelo de apoio às famílias, com a participação família sendo, em sua maioria, alinhada ao modelo de apoio focado na família. Espera-se que este estudo possa contribuir e fomentar discussões sobre a intervenção precoce, dos modelos de apoio à família, e em especial das crianças com TEA.
Abstract Family-centered early intervention has been considered by researchers as the current paradigm for childcare. This article aims to present and discuss perceptions of family members about early intervention practices and active family participation, carried out by the team of a Specialized Rehabilitation Center (CER) in the care of children with Autistic Spectrum Disorder (ASD). Nine family members of children with ASD, from zero to four years and 11 months, included in the service, participated in the research. Interviews were conducted with the participants to investigate the families' knowledge and their expectations about participating in the interventions, and after data collection, thematic content analysis was performed. The practice of the team at this service is not exclusively related to a single model of support for families, with family participation being, for the most part, aligned with the support model focused on the family. It is hoped that this study can contribute and encourage discussions about early intervention, family support models, and especially children with ASD.
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Introducción: La evidencia plantea que el trastorno del espectro autista puede asociarse con un aumento, en el pensamiento, del deseo de querer morir; ante esta situación se hace necesario investigar los factores de riesgo que afectan a menores con esta condición. Objetivo: Explorar en la literatura de qué forma las interacciones sociales y el bullying son factores de riesgo en la conducta suicida en niños y adolescentes con trastorno del espectro autista. Métodos: Se realizó una búsqueda que incluyó las principales bases de datos y de gestores de la información (PubMed, SciELO, WoS, Google académico, Scopus, Dialnet), entre marzo y agosto de 2021. Se utilizaron términos como suicidal behavior; trastorno del espectro autista; intimidación; nteracción social. Análisis y síntesis de la información: Se entregan argumentos de cómo el bullying representa un factor de riesgo para la conducta suicida, también de cómo los intercambios comunicativos se encuentran afectados en los menores con trastornos del espectro autista y esto puede aumentar el riesgo suicida. Se describe la escasa literatura vinculada a la evaluación de la conducta suicida en los menores con estos trastornos y de la necesidad de continuar investigando en esta temática. Conclusión: Los niños y adolescentes con necesidades educativas especiales, entre los que se encuentran los niños con trastornos del espectro autista, están expuestos a un mayor número de factores de riesgo para la aparición de conducta suicida. Estos elementos deben considerarse a la hora de programar y planificar protocolos de prevención del suicidio en el contexto sanitario y educativo(AU)
Introduction: Evidence suggests that autism spectrum disorder may be associated with an increase, in thinking of the wish to die; given this situation, it is necessary to investigate the risk factors that affect children with this condition. Objective: To explore in the literature how social interactions and bullying are risk factors for suicidal behavior in children and adolescents with autism spectrum disorder. Methods: A search including the main databases and information managers (PubMed, SciELO, WoS, Google Scholar, Scopus, Dialnet) was carried out between March and August 2021. Terms such as suicidal behavior; autism spectrum disorder; bullying; social interaction were used. Analysis and synthesis of information: Arguments are given on how bullying represents a risk factor for suicidal behavior, also on how communicative exchanges are affected in children with autism spectrum disorders and this may increase suicidal risk. It is described the scarce literature related to the evaluation of suicidal behavior in children with these disorders and the need for further research on this topic. Conclusion: Children and adolescents with special educational needs, including children with autism spectrum disorders, are exposed to a greater number of risk factors for the development of suicidal behavior. These elements should be considered when programming and planning suicide prevention protocols in the health and educational context(AU)
Subject(s)
Humans , PubMed , Bullying , Autism Spectrum Disorder , Suicidal IdeationABSTRACT
Autism spectrum disorders are characterized by neurodevelopmental alterations with onset of symptoms in childhood. The literature has indicated that the models of intensive behavioral intervention can produce significant improvements in several areas of the development of people with this diagnosis. The offer of this type of therapy in Brazil is still scarce, especially in institutions financed by the Unified Health System. However, the training of caregivers has been pointed out as an alternative to promote access to this type of therapy to more autistic people. The aim of this study was to analyze the effects of caregiver training on the development of autistic children treated at an institution financed by the Unified Health System. Participants were assessed before and after the intervention, using an instrument that measured the children's development. The results indicated improvement in the development of six children out of a group of 17.
Os transtornos do espectro do autismo constituem-se por alterações do neurodesenvolvimento com início dos sintomas na infância. A literatura tem indicado que os modelos de intervenção comportamental in-tensiva podem produzir melhoras significativas em várias áreas do desenvolvimento de pessoas com esse diagnóstico. A oferta desse tipo de terapia no Brasil ainda é escassa, especialmente em instituições finan-ciadas pelo Sistema Único de Saúde. Contudo, a capacitação de cuidadores tem sido apontada como uma alternativa para promover o acesso a esse tipo de terapia a mais pessoas com autismo. O objetivo deste estudo foi analisar os efeitos da capacitação de cuidadores no desenvolvimento de crianças com autismo atendidas em uma instituição financiada pelo Sistema Único de Saúde. Os participantes foram avaliados antes e após a intervenção, por meio de instrumento que mediu o desenvolvimento das crianças. Os resul-tados indicaram melhora no desenvolvimento de seis crianças de um grupo de 17.
Los trastornos del espectro autista se caracterizan por alteraciones del neurodesarrollo con inicio de sín-tomas en la infancia. La literatura ha indicado que los modelos de intervención conductual intensiva pueden producir mejoras significativas en varias áreas del desarrollo de las personas con este diagnóstico. La oferta de este tipo de terapia en Brasil aún es escasa, especialmente en instituciones financiadas por el Sistema Único de Salud. Por otro lado, la formación de cuidadores se ha señalado como una alternativa para promover el acceso a este tipo de terapia a más personas con autismo. El objetivo de este estudio fue analizar los efectos de la formación de cuidadores en el desarrollo de niños con autismo atendidos en una institución financiada por el Sistema Único de Salud. Los participantes fueron evaluados antes y después de la intervención, utilizando un instrumento que midió el desarrollo de los niños. Los resultados indicaron una mejora en el desarrollo de seis niños en un grupo de 17.
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Background: Despite steady decline in the age of diagnosis (AOD) at the global level, it has not declined uniformly, and marked disparities are documented by income, education, race, and access to health care. Objectives: The objectives of the study are to examine the urban/rural disparities in the initial age of autism diagnosis and to understand the interplay of the underlying demographic and social factors. Methods: A retrospective case record review of all children who received their initial diagnosis of autism at the Pediatric Psychology Clinic (1997–2018) of a tertiary advanced pediatric center at Chandigarh was conducted. Astructured abstraction data form was used to extract demographic, socioeconomic, and clinical information from the files maintained at the clinic. Results: A total of 1321 case records were examined. The mean AOD was 4.62 years (standard deviation = 2.38) and children from rural communities were diagnosed at 4.87 years, nearly 0.35 years later than urban children (t = 2.47, P = 0.013). Results indicated that 31.1% of the variance in the AOD for children from rural areas was predicted by two variables, namely the number of children in the family and total Childhood Autism Rating Scale (CARS) score (F = 13.62, P = 0.001). For the urban sample, three variables emerged as significant predictors including the number of children in the family, total CARS score, and maternal education and these together explained 20.2% of the variance in the AOD (F = 19.60, P = 0.001). Conclusion: The public health system must be sensitized to the unmet needs of the marginalized socioeconomic groups to access diagnostic and management services in a timely manner.
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RESUMEN Introducción: los trastornos del espectro autista consisten en un grupo de discapacidades del desarrollo nervioso que afecta la interacción social. El niño autista se considera un paciente especial en Estomatología. Objetivo: evaluar la efectividad de una intervención estomatológica en niños autistas, de la escuela especial "Héroes del Moncada" del municipio Camagüey, de septiembre 2018 a junio 2019. Métodos: se realizó un estudio cuasi experimental, antes-después sin grupo control, de septiembre 2018 a junio 2019. El universo y la muestra coincidieron con 26 pacientes, matrícula total de la escuela especial. Se estudiaron variables: tipos de enfermedades bucodentales, factores de riesgo, clasificación epidemiológica, índice COP-D. Se diseñó un protocolo de actuación escalonada, reforzado por técnicas de modificación de la conducta para la familiarización, el acondicionamiento y las posteriores acciones curativas. Resultados: se observó la prevalencia de enfermedad periodontal (80,8 %) y caries dental (57,7 %), cifras que disminuyeron a 15,4 % y 7,7 % después de la intervención. Existió una frecuencia elevada de anomalías dento-maxilo-faciales (61,5 %), tributarias al segundo nivel de atención. El 96,2 % de los pacientes presentaron una mala higiene bucal y presencia de placa dentobacteriana (PDB), lo cual disminuyó notablemente (26,9 % para ambas variables) una vez tratados. Conclusiones: la intervención estomatológica desarrollada fue efectiva y aplicable, con un aporte educativo, preventivo-curativo y social. Desarrolló en los niños con TEA, hábitos correctos y conocimientos básicos de higiene bucal. Se redujeron las afecciones bucales, se garantizó el seguimiento y evolución a través de nexos afectivos que se establecieron.
ABSTRACT Introduction: autism spectrum disorders consist of a group of neuro-developmental disabilities that affect social interaction. The autistic child is considered a special patient in dentistry. Objective: to evaluate the effectiveness of a dentistry intervention in autistic children, from Heroes del Moncada Special School in Camagüey municipality, September 2018 to June 2019. Methods: a quasi-experimental study was conducted, before-after without control group from September 2018 to June 2019.The target group and the sample matched (26 patients), the total registration of the special school. The variables studied were: types of oral diseases, risk factors, epidemiological classification, and DMFT index. A stepwise action protocol was designed, reinforced by behavior modification techniques for familiarization, conditioning and subsequent healing actions. Results: the prevalence of periodontal disease (80,8 %) and dental caries (57,7 %) was observed, figures that decreased to 15,4 % and 7,7 % respectively after the intervention. There was a high frequency of dento-maxillofacial anomalies (61,5 %), responding to the second level of care. The 96,2 % of patients presented poor oral hygiene and presence of dentobacterial plaque (DBP), which decreased significantly (26,9 % for both variables) after treatment. Conclusions: the dentistry intervention developed was effective and applicable, with an educational, preventive-healing and social contribution. It developed correct habits and basic knowledge of oral hygiene in children with ASD. Oral disorders were reduced and follow-up along with evolution were guaranteed all through the affective bonds developed.
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Objective:To explore the effect of step-by-step fusion sandplay therapy on clinical symptoms, emotional cognition and quality of life in children with autism spectrum disorder(ASD).Methods:Eighty children with ASD who were admitted in Zhumadian Central Hospital and the Third Affiliated Hospital of Zhengzhou University from January 2019 to January 2021 were selected as the research objects, and they were divided into the study group( n=45) and the control group ( n=35) according to the random number table method.The children in control group were given structured education combined with auditory system training intervention, while the children in study group were given step-by-step fusion sandplay therapy combined with pretend play training on the basis of the control group.Children in the two groups were intervened for 6 months.Autism behavior checklist (ABC), childhood autism rating scale (CARS), social responsiveness scale (SRS), emotion recognition tools and pediatric quality of life (PedsQL) were applied before and after 6 months of intervention.The scores of ABC, SRS, CARS, emotion recognition and PedsQL were compared between the two groups, and Pearson correlation analysis was used to analyze the relationships between the scores of ABC, SRS, CARS, emotion cognition and PedsQL. Results:Compared with pre-intervention, the two groups of children after 6 months of intervention, the sensation, social interaction, body movement, language, self, ABC total score, social perception, social cognition, social communication, social motivation, autistic behavior, SRS total score and CARS scores decreased ( tstudy group= 5.182, 7.200, 6.778, 7.302, 5.140, 36.178, 3.955, 15.294, 9.014, 11.063, 9.723, 45.354, 25.827, all P<0.05, tcontrol group= 1.971, 2.612, 1.665, 2.294, 2.129, 10.809, 2.305, 5.544, 2.650, 2.955, 2.849, 16.485, 5.910, all P<0.05), upright, inverted, upper half face, lower half face emotion discrimination rate, physiological function, emotional function, social function, school function and PedsQL total scores all increased ( tstudy group= 16.723, 31.037, 10.951, 7.234, 7.572, 7.393, 9.036, 7.236, 6.223, all P<0.05. tcontrol group= 5.458, 14.008, 4.196, 2.653, 3.260, 3.566, 3.298, 2.766, 3.876, all P<0.05). After 6 months of intervention, the ABC total score and the scores of sensation, social interaction, body movement, language, and self-care of children in the study group were all lower than those in the control group (ABC total score difference: the study group (21.9±2.8) points, the control group (7.5±2.6) points), t=23.537, P<0.05). The scores of social perception, social cognition, social communication, social motivation, autistic behavior and SRS total score were all lower than those in the control group (SRS total score difference: study group (18.7±0.7) points, control group (8.1±0.6) points, t=71.448, P<0.05). The CARS score of study group was lower than that in control group (CARS score difference: study group (7.7±1.1) points, control group (2.2±0.8) points, t=24.887, P<0.05), while the scores of upright, inverted, upper and lower face emotion discrimination rate, physiological function, emotional function, social function, school function and the PedsQL total score were all higher than those in the control group (PedsQL total score difference: study group (8.4±1.2) points, control group (0.7±0.9) points, t=31.648, P<0.05). Correlation analysis showed that the ABC total score, SRS total score, and CARS score of children with ASD were negatively correlated with physiological function, emotional function, social function, school function and PedsQL total score ( rABC total score=-0.387, -0.334, -0.324, -0.289, -0.349, all P<0.05. rSRS total score = -0.390, -0.343, -0.299, -0.283, -0.378, all P<0.05. rCARS score = -0.321, -0.298, -0.293, -0.235, -0.319, all P<0.05). Upright, inverted, upper and lower faces were positively correlated with physiological function, emotional function, social function, school function and PedsQL total score ( rupright=0.837, 0.650, 0.669, 0.710, 0.680, all P<0.05. rinversion=0.688, 0.611, 0.615, 0.602, 0.647, all P<0.05. rupper half face=0.755, 0.669, 0.638, 0.740, 0.629, all P<0.05. rlower half face=0.738, 0.724, 0.553, 0.568, 0.560, all P<0.05). Conclusion:The step-by-step fusion sandplay therapy can effectively alleviate the clinical symptoms of children with ASD, improve their social responsiveness, and improve their emotional cognitive function and quality of life.
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Las N-terminal acetiltransferasas (NaT) son fundamentales en el desarrollo, funcionamiento y vida media celular, acetilando gran parte del proteoma humano. Entre las ocho NaT identificadas, N-terminal acetiltransferasa A (NaTA) acetila a un mayor número de sustratos, teniendo además un rol fundamental en el neurodesarrollo. Previamente, estudios han demostrado que mutaciones en la subunidad catalítica de NaTA, NAA10, se asocian con trastornos del neurodesarrollo. Sin embargo, nuevas líneas investigativas sugieren que mutaciones de la subunidad auxiliar, NAA15, también tendrían un rol importante en el desarrollo de estos trastornos. Esta revisión se realiza con el objetivo de recopilar evidencia sobre variantes de NAA15 relacionadas con Discapacidad Intelectual (DI) y Trastorno de Espectro Autista (TEA). Se consultaron fuentes actualizadas sobre acetilación N-terminal, NaT, DI y TEA y mutaciones reportadas de NAA15 y sus expresiones fenotípicas, publicadas entre 2011 y 2022. Se concluye que, aun cuando existe relación entre mutaciones de NAA15, DI y TEA, todavía es necesario esclarecer los mecanismos fisiopatológicos de estos trastornos, el rol de NaTA y el impacto de variantes de sus subunidades en las vías moleculares y el fenotipo, lo que se dificulta por razones que van desde la complejidad de estas vías hasta el elevado costo de análisis genéticos. Se sugiere continuar la investigación en esta área, para comprender las bases moleculares subyacentes a estos trastornos y el rol de las mutaciones en subunidades de NaTA, con el fin último de estudiar potenciales tratamientos que mejoren la calidad de vida de las personas con estos trastornos y sus familias.
Nt-acetyltransferases (NaT) are essential in cell development, function and half-life, catalyzing most of the human proteome. Among the eight NaTs identified, N-terminal acetyltransferase A (NaTA) acetylates a greater number of substrates, also having a fundamental role in neurodevelopment. Previously, studies have shown that mutations in the catalytic subunit of NaTA, NAA10, are associated with neurodevelopmental disorders. However, new research lines suggest that mutations of the NAA15 helper subunit also plays an important role in the development of these disorders. This review is carried out with the objective of gathering evidence on NAA15 variants related to Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Updated sources on N-terminal acetylation, N-acetyltransferases, DI and TEA and reported mutations of NAA15 and their phenotypic expressions, published between 2011 and 2022 were consulted. It is concluded that even though there is a relationship between mutations of NAA15, ID and ASD exists, it is still necessary to clarify the pathophysiological mechanisms of these disorders, the role of NaTA and the impact of variants of its subunits in the molecular pathways and in the phenotype, for reasons ranging from the complexity of these pathways to the high cost of genetic testing. It is suggested to continue research in this area, to understand the molecular bases underlying these disorders and the role of mutations in NatA subunits, with the ultimate aim of studying potential treatments that improve the quality of life of people with these disorders and their families.
Subject(s)
Humans , N-Terminal Acetyltransferase A/genetics , Autism Spectrum Disorder/genetics , Intellectual Disability/genetics , Genetic Variation , N-Terminal Acetyltransferase A/metabolism , Mutation/geneticsABSTRACT
Introducción: Los trastornos de espectro autista se caracterizan por presentar un déficit en la interacción y comunicación social con presencia de patrones repetitivos y restrictivos de comportamiento, intereses y actividades. En ellos estarían implicadas causas genéticas, ambientales y del desarrollo del sistema nervioso central. Un mayor conocimiento de la neuroanatomía y la neurofisiología ayudaría a comprender mejor este trastorno del neurodesarrollo. Objetivo: Profundizar en el conocimiento neuroanatómico y neurofisiológico de los trastornos del espectro autista. Métodos: Se realizó una búsqueda bibliográfica acerca del tema en las bases de datos LILACS, Scopus, SciELO, Pubmed, Medigraphic. Se escogieron 13 documentos, todos correspondientes a artículos originales que abordan el tema desde diferentes aristas. De los documentos, dos fueron localizados en Scopus, uno en Pubmed, cuatro en Medigrafhic, dos en LILACS y cuatro en SciELO. Resultados: Los trastornos de espectro autista se producen por una alteración estructural y funcional de la corteza cerebral. Los estudios de neuroimágenes han demostrado las alteraciones estructurales, fundamentalmente en la corteza prefrontal y sus conexiones, principal región encefálica implicada en la regulación de la conducta social. Las técnicas de secuenciación genómica de nueva generación muestran el origen genético en casos donde los estudios previamente señalados han resultado ser normales. Conclusiones: La profundización del conocimiento neuroanatómico y neurofisiológico de los trastornos de espectro autista permiten comprenderlos mejor(AU)
Introduction: Autism spectrum disorders are characterized by social deficits and communication difficulties, as well as restrictive, repetitive behavior patterns, interests and activities. Their causes may be genetic, environmental or related to the development of the central nervous system. Broader knowledge about neuroanatomy and neurophysiology could lead to a better understanding of this neurodevelopmental disorder. Objective: Gain insight into the neuroanatomy and neurophysiology of autism spectrum disorders. Methods: A bibliographic search about the topic was conducted in the databases LILACS, Scopus, SciELO, Pubmed and Medigraphic. A total 13 documents were selected, all of which were original papers approaching the topic from different perspectives. Two of the documents were obtained from Scopus, one from Pubmed, four from Medigraphic, two from LILACS and four from SciELO. Results: Autism spectrum disorders are caused by a structural and functional alteration of the cerebral cortex. Neuroimaging studies have shown the structural alterations, which mainly occur in the prefrontal cortex and its connections, the principal encephalic region involved in social behavior regulation. New generation genomic sequencing techniques reveal a genetic origin in cases where previous studies have been normal. Conclusions: Broader knowledge about the neuroanatomy and neurophysiology of autism spectrum disorders lead to their better understanding(AU)
Subject(s)
Humans , Male , Female , Social Behavior , Social Control, Formal , Neurodevelopmental Disorders/genetics , Autism Spectrum Disorder/genetics , Neuroanatomy/education , Neurophysiology/educationABSTRACT
RESUMO: O objetivo geral deste estudo foi avaliar a viabilidade do uso de Tecnologias da Informação e Comunicação para a capacitação de cuidadores de crianças com autismo em um contexto de Intervenção Comportamental Intensiva. Participaram do estudo 24 crianças com o diagnóstico de autismo, com idades entre 3 anos e 2 meses e 8 anos e 10 meses e seus respectivos cuidadores. Os cuidadores realizaram as estimulações comportamentais e intensivas com as crianças com autismo e foram capacitados por profissionais especializados, porém essa capacitação ocorreu por meio do uso de Tecnologias da Informação e Comunicação, estando profissionais e cuidadores em locais diferentes. Os participantes com autismo foram avaliados antes e após a intervenção, por meio de instrumentos padronizados que permitiram medir o desenvolvimento das crianças. Os resultados indicaram a viabilidade do uso dessas tecnologias para capacitar cuidadores e ganhos no desenvolvimento das crianças com autismo.
ABSTRACT: The objective of this study was to evaluate the viability of using Information and Communication Technologies for the training of caregivers of children with autism in the context of Intensive Behavioral Intervention. Twenty-four children diagnosed with autism, aged between 3 years and 2 months and 8 years and 10 months and their respective caregivers participated in the study. Caregivers performed behavioral and intensive stimulations with children with autism and were trained by specialized professionals, however this training took place using Information and Communication Technologies, being professionals and caregivers in different locations. Participants with autism were assessed before and after the intervention, using standardized instruments that allowed measuring the children's development. The results indicated the viability of using these technologies to empower caregivers and gains in the development of children with autism.
ABSTRACT
Los Trastornos del Neurodesarrollo, en particular, los Trastornos del Espectro Autista (TEA) afectan la comunicación e interacción social, además de caracterizarse por conductas estereotipadas que en muchos casos se desajustan de la norma social. Dichas características nucleares de TEA pueden afectar el desarrollo afectivo-sexual y esto se puede ver exacerbado según el nivel de funcionamiento del niño o Adolescente. En este artículo revisaremos aspectos en conflicto en la sexualidad de Adolescentes con TEA de alto funcionamiento. Métodos: Se efectuó una revisión sistematizada de la evidencia reciente publicada y anexada a bases de datos en relación a conflictos en el área afectivo-sexual vivenciados por adolescentes con diagnóstico de Trastorno del Espectro Autista de alto funcionamiento. Se incluyeron estudios específicos respecto al tema, principalmente auto-reportes, denotando la escasez de revisiones sistemáticas. Se compara con literatura clásica de autismo. En la revisión se excluyó la población infantil con TEA, o sea, menores a 12 años al igual que jóvenes con TEA de bajo funcionamiento debido a las dificultades implícitas que la discapacidad intelectual y/o alteraciones del lenguaje generan en la interacción social y desarrollo afectivo-sexual. Resultados: En la revisión del tema se pesquisaron estudios enfocados en la comprensión de las dimensiones afectivo-sexuales afectadas en adolescentes con TEA de alto funcionamiento, comparaciones del desarrollo normativo en adolescentes sin TEA considerados casos controles y sus contrapartes con TEA, así mismo, se hizo énfasis en conflictos en común v/s conflictos específicos en TEA. Se evaluaron además, factores de riesgo en el ámbito sexual de jóvenes con TEA y las problemáticas en torno a educación sexual. Al respecto los estudios coincidieron en mayores porcentajes de conductas hipersexualizadas y parafílicas (principalmente fantasías sádicas y conductas voyeuristas y masoquistas) en adolescentes con TEA de alto funcionamiento. Además reportaron tasas más altas de orientación sexual "no heterosexual", disforia de género e identidad de género Trans. Discusión y Conclusiones: Del análisis de estudios en población específica de Adolescentes con diagnóstico de TEA catalogados como de alto funcionamiento, y en comparación con individuos controles sin TEA, la evidencia muestra un amplio espectro de dificultades relacionadas al desarrollo afectivo-sexual y su enfrentamiento en esta etapa del ciclo vital, así como la relación de los síntomas nucleares de TEA con conductas no normativas en torno a sexualidad del tipo "Hipersexualización" y "Parafilias". Se discuten además conflictos en orientación sexual e identidad de género. Se logró establecer una asociación entre las variables, lo que afecta su desempeño social global. Se evidenció además, la escasa educación sexual que reciben éstos adolescentes a nivel familiar y académico, lo que perpetúa tales conflictivas y establece un escenario de riesgo en su desarrollo. Se requiere mayor evaluación y utilización de escalas específicas adaptadas a TEA para mejorar y suplir tales falencias y así mejorar la calidad de vida de dichos jóvenes.
Neurodevelopmental Disorders, in particular Autism Spectrum Disorders (ASDs), affect social communication and interaction, as well as being characterized by stereotypical behaviors that in many cases are mismatched from the social norm. Such nuclear characteristics of ASD can have an impact on affective-sexual development and this may be exacerbated by the function level of the child or adolescent. In this article we will review conflicting aspects in the sexuality of adolescents with high-functioning ASD. Methods: A systematized review of recent evidence published and annexed to databases related to conflicts in the affective-sexual area lived by adolescents diagnosed with high-functioning Autism Spectrum Disorder was conducted. Specific studies were included on the subject, mainly self-reports, denoting the scarcity of systematic reviews. It was compared to classical autism literature. The review excluded the child population with ASD, i.e., under 12 years of age, as well as young people with low-functioning ASD due to the implicit difficulties that intellectual disability and/or language alterations generate in social interaction and affective-sexual development. Results: The review looked at studies focused on understanding the affective-sexual dimensions affected in adolescents with high-functioning ASD, comparisons of normative development in adolescents without ASD, considered control cases and their counterparts with ASD, as well as emphasizing common conflicts v/s specific conflicts in ASD. Risk factors in the sexual field of young people with ASD and sexual education issues were also assessed. In this regard, studies coincided with higher percentages of hypersexualized and paraphilic behaviors (mainly sadistic fantasies and voyeuristic and masochistic behaviors) in adolescents with high-functioning ASD. They also reported higher rates of "non-heterosexual" sexual orientation, gender dysphoria and transgender identity. Discussion and Conclusions: From the analysis of studies in the specific population of adolescents diagnosed with ASD listed as high functioning, and compared to individuals controls without ASD, the evidence shows a wide affective-sexual development and its confrontation at this stage of the life cycle, as well as the relationship of nuclear symptoms of ASD with non-normative behaviors around sexuality of the type "Hypersexualization" and "Paraphilias". Conflicts in sexual orientation and gender identity are also discussed. It was possible to establish a partnership between variables, which affects their overall social performance. It was also evident that these adolescents receive poor sex education within their families and at the academic levels, perpetuating such conflicts and establishing a scenario of developmental risk. Further evaluation and use of specific scales adapted to ASD are required to improve and supplement such false conditions and thus improve the quality of life of such young people.
Subject(s)
Humans , Male , Female , Adolescent , Sexual Behavior/psychology , Sexuality/psychology , Autism Spectrum Disorder/psychology , Sexual Dysfunction, Physiological/psychologyABSTRACT
El aumento en la prevalencia de los Trastornos del Espectro Autista (TEA) ha influido en la necesidad de contar con equipos de experiencia formada para su evaluación. En este esfuerzo es que en la unidad de salud mental ambulatoria del Hospital Exequiel González Cortés se implementó un programa de evaluación multidisciplinario para pacientes con sospecha de TEA. Entre los meses de abril y julio del presente año han sido evaluados 15 pacientes, en su mayoría varones con una edad media entre 6 a 10 años, encontrando que un 30% correspondía a un TEA y un 57% a otros diagnósticos como Retraso Global del Desarrollo y Trastornos Emocionales, entre otros. Los resultados confirman la importancia de contar con profesionales competentes con las habilidades para realizar el diagnóstico de estos pacientes.
The increase in the prevalence of the Autism Spectrum Disorders (ASD) influenced the need of having trained experienced teams for its evaluation. In this effort a multidisciplinary evaluation program for patients with suspected ASD was implemented in the Ambulatory Mental Health Unit of the Exequiel González Cortés Hospital. Between the months of april and july of 2020, 15 patients have been evaluated, mostly male, with an range of 6 to 10 years of age. We found that 30% corresponded to an ASD and 57% to other diagnoses such as Global Development Delay and Emotional Disorders, among others. The results confirm the importance of counting with trained teams with the skills to make the diagnosis in these patients.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/epidemiology , Patient Care Team , Chile/epidemiology , Pilot Projects , Prevalence , Hospitals, PublicABSTRACT
Introducción: La pandemia por Covid-19 ha generado una crisis multimodal inédita: sanitaria, laboral, económica, social, que repercutirá especialmente a los países en vía de desarrollo. El confinamiento como medida preventiva es su vez una amenaza que producen un impacto social. Pandemia y confinamiento se han convertido en un factor de adversidad psicosocial que afecta las familias y sus hijos. Durante la pandemia, los niños y adolescentes con un trastorno psiquiátrico podrían presentar exacerbación de sus síntomas. Sin embargo, poco se conoce al respecto, pues los estudios sobre esta población durante la pandemia son escasos. Objetivo: Revisar los datos disponibles en la literatura actual acerca del efecto de la pandemia sobre los niños y adolescentes que presentan un trastorno psiquiátrico previo. Métodos: Se realizó una búsqueda de la literatura a través de PubMed, Scielo y, por las condiciones excepcionales de la situación de pandemia, de manera directa en buscadores de internet. Se incluyeron artículos en ingles y español. Resultados: La información encontrada se presenta en los siguientes apartados: la familia y los hijos durante la pandemia, evaluación de los trastornos mentales en niños y jóvenes durante la pandemia, trastornos psiquiátricos preexistentes durante la pandemia, y atención en telepsiquiatría. Se presenta información específica sobre el trastorno por déficit de atención e hiperactividad, trastorno del espectro autista, discapacidad intelectual, trastorno de ansiedad, trastorno obsesivo compulsivo y el trastorno por estrés postraumático. La pandemia actual por COVID-19 y el confinamiento son una adversidad psicosocial que atenta contra la estabilidad de la familia. Tal estresor pude causar exacerbación de los síntomas de un trastorno mental previo. Los niños y adolescentes con trastornos psiquiátricos son una población vulnerable que requiere de una atención especializada. La telepsiquiatría se convierte en una modalidad con múltiples ventajas.
Introduction: The Covid-19 pandemic has generated an unprecedented multimodal (health, occupational, economic, and social crisis, which will impact developing countries. Confinement as a preventive measure is itself a threat that produces a social impact. Pandemic and confinement have become a psychosocial adversity factor that affects families and their children. During the pandemic, children and adolescents with a psychiatric disorder may experience exacerbation of their symptoms. However, little is known about this, since studies on this population during the pandemic are scarce. Objective: To review the data available in the current literature on the effect of the pandemic on children and adolescents with a previous psychiatric disorder. Methods: A literature search was carried out using PubMed, Scielo and, due to the exceptional conditions of the pandemic situation, directly using internet search engines. Both English and Spanish papers were included. Results: The information found is presented in the following sections: family and children during the pandemic, evaluation of mental disorders in children and young people during the pandemic, pre-existing psychiatric disorders during the pandemic, and telepsychiatric care. Specific information is presented on attention deficit hyperactivity disorder, autism spectrum disorder, intellectual disability, anxiety disorder, obsessive compulsive disorder, and post-traumatic stress disorder. The current pandemic due to COVID-19 and confinement are a psychosocial adversity that threatens the stability of the family. Such a stressor can cause exacerbation of symptoms of a previous mental disorder. Children and adolescents with psychiatric disorders are a vulnerable population and require specialised care. Telepsychiatry is becoming a modality with multiple advantages.
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RESUMEN Introducción: el mundo vive una situación compleja relacionada con la COVID-19, causada por el SARS-CoV-2, Cuba no está exenta de esta situación. A la par de esta pandemia aparecen alteraciones psicológicasrelacionadas con la enfermedad y el confinamiento. Los niños con trastornos mentales son muyvulnerables. El manejo de las conductas disruptivas que se presentan perturba al niño y al adulto que enfrenta la contingencia quien tiene fallas en enfrentarlas y resolverlas. Objetivo: describir las alteraciones psicológicas de los niños con Trastornos del espectro autista durante el confinamiento por COVID-19 y estimular a la familia en la autogestión de recursos psicológicos para el control de conductas desajustadas. Método: se realizó una búsqueda bibliográfica en bases de datos Medline/Pubmed, Elseiver, Scielo y Google académico. Se utilizó descriptores como pandemia, confinamiento, Trastornos del espectro autista, salud mental. Resultados: se encontró que durante situaciones críticas como lo es esta pandemia, se presentan alteraciones en la salud mental de niños con Trastornos del espectro autista. La agresividad, los trastornos del sueño, la irritabilidad, gritos y aparición de conductas estereotipadas sonla más frecuente. El confinamiento puede resultar muy complejo para el niño autista quien reacciona desproporcionadamente a cambios en su rutina diaria. Conclusiones: brindando una caracterización de las manifestaciones en niños con este trastorno a partir del confinamiento por COVID-19 y brindando los recursos psicológicos y orientaciones generales a los padres para la atención inmediata a las alteraciones presentadas por estos niños para sobrellevar mejor el periodo de confinamiento.
ABSTRACT Introduction: the world is experiencing a complex situation related to COVID-19, caused by SARS-CoV-2, Cuba is not exempt from this situation. Along with this pandemic, psychological disorders related to illness and confinement appear. Children with mental disorders are highly vulnerable. The management of the disruptive behaviors that occur disturbs the child and the adult who faces the contingency who has failures to face and resolve them. Objective: to describe the psychological disturbances of children with Autism Spectrum Disorders during confinement by COVID-19 and to stimulate the family to self-manage psychological resources to control misbehaviors. Method: a bibliographic search was performed in Medline / Pubmed, Elseiver, Scielo and Google academic databases. Descriptors such as pandemic, confinement, Autism spectrum disorders, mental health were used. Results: it was found that during critical situations such as this pandemic, there are alterations in the mental health of children with Autism spectrum disorders. Aggression, sleep disorders, irritability, screaming and the appearance of stereotypical behaviors are the most frequent. Confinement can be very complex for the autistic child who reacts disproportionately to changes in his daily routine. Conclusions: providing a characterization of the manifestations in children with this disorder from confinement by COVID-19 and providing psychological resources and general guidelines to parents for immediate attention to the alterations presented by these children to better cope with the period of confinement.
RESUMO Introdução: o mundo está passando por uma situação complexa relacionada ao COVID-19, causada pelo SARS-CoV-2, Cuba não está isenta dessa situação. Juntamente com essa pandemia, surgem distúrbios psicológicos relacionados a doenças e confinamentos. Crianças com transtornos mentais são altamente vulneráveis. O gerenciamento dos comportamentos perturbadores que ocorrem perturba a criança e o adulto que enfrenta a contingência que tem falhas em enfrentá-los e resolvê-los. Objetivo: descrever os distúrbios psicológicos de crianças com Transtornos do Espectro do Autismo durante o confinamento pelo COVID-19 e estimular a família a autogerenciar recursos psicológicos para controlar comportamentos inadequados. Método: foi realizada uma pesquisa bibliográfica nas bases de dados acadêmicas Medline / Pubmed, Elseiver, Scielo e Google. Foram utilizados descritores como pandemia, confinamento, distúrbios do espectro do autismo e saúde mental. Resultados: verificou-se que, em situações críticas como essa pandemia, há alterações na saúde mental de crianças com distúrbios do espectro do autismo. Agressão, distúrbios do sono, irritabilidade, gritos e aparecimento de comportamentos estereotipados são os mais frequentes. O parto pode ser muito complexo para a criança autista que reage desproporcionalmente às mudanças em sua rotina diária. Conclusões: fornecendo uma caracterização das manifestações em crianças com esse distúrbio desde o confinamento pelo COVID-19 e fornecendo recursos psicológicos e orientações gerais aos pais para atenção imediata às alterações apresentadas por essas crianças para melhor lidar com o período de confinamento.
ABSTRACT
Se realizó un estudio sobre treinta pacientes con trastorno del espectro autista (TEA) que asisten para su atención a centros especializados que funcionan en la Ciudad Autónoma de Buenos Aires y en el conurbano bonaerense. A todos ellos se les efectuó un estudio psico-neuro-cognitivo exhaustivo, según la escala IDEA (Inventario del Espectro Autista) que tiene el objetivo de evaluar doce dimensiones características significativas en estos pacientes, con cuatro niveles de puntuación en cada una de las dimensiones estudiadas. Los padres o tutores completaron una encuesta con datos epidemiológicos y se investigaron posibles factores de alergias y/o intolerancias presentes. Esta encuesta también se hizo extensiva a otras familias con niños autistas, para que los datos epidemiológicos fueran representativos de una población mayor. Sobre los treinta pacientes estudiados se dosaron anticuerpos antiendomisio y antitransglutaminasa, ambos asociados con la enfermedad celíaca; IgE total, asociada a procesos de alergia y a parasitosis; homocisteína sérica o urinaria, cortisol sérico o urinario y factor neurotrófico derivado del cerebro (BNDF). Se trataron de establecer posibles asociaciones causales entre los parámetros estudiados y las manifestaciones de los trastornos autistas.
Thirty patients with autism spectrum disorder (ASD) who attend specialized centers in Buenos Aires and its suburbs were carefully studied. All of them underwent a psycho-neuro-cognitive study. The psychologists used the IDEA (Autism Spectrum Inventory) scale which is focused on twelve characteristically significant dimensions with four typical levels in each of those dimensions studied. Their parents or guardians completed a survey with epidemiological data and possible factors of allergies and/or intolerance presence were investigated. This survey was also distributed among other families with children with ASD condition so that the epidemiological results were taken from a larger number of cases. Anti-endomysial and anti-transglutaminase antibodies usually related to celiac disease, total IgE related to allergic processes, homocysteine measures in serum or urine, cortisol measured in serum or urine and brain-derived neurotrophic factor (BNDF) were dosed in all the cases. The aim was to establish possible causal associations between the studied parameters and the manifestations of the autism spectrum disorder.
Foi conduzido um estudo em trinta pacientes com transtorno do espectro autista (TEA) que para serem atendidos frequentam centros especializados que operam na Cidade Autônoma de Buenos Aires e seus arrededores. Todos eles foram submetidos a um exaustivo estudo psico-neurocognitivo, de acordo com a escala IDEA (Inventário do Espectro Autista) que visa avaliar doze características significativas desses pacientes, com quatro níveis de pontuação em cada uma das dimensões estudadas. Os pais ou responsáveis responderam uma pesquisa com dados epidemiológicos e foram pesquisados possíveis fatores de alergias e / ou intolerâncias presentes. Essa pesquisa também foi estendida a outras famílias com crianças autistas, de modo que os dados epidemiológicos fossem representativos de uma população maior. Anticorpos antiendomísio e antitransglutaminase foram dosados nos trinta pacientes estudados, ambos associados à doença celíaca; IgE total associada a processos de alergia e a parasitose; homocisteína sérica ou urinária, cortisol sérico ou urinário e fator neurotrófico derivado do cérebro (BNDF). Tentou-se estabelecer possíveis associações causais entre os parâmetros estudados e as manifestações dos transtornos autistas.