Exploring the Acquisition of Social Communication Skills in Children with Autism: Preliminary Findings from Applied Behavior Analysis (ABA), Parent Training, and Video Modeling.

Social communication skills, especially eye contact and joint attention, are frequently impaired in autism spectrum disorder (ASD) and predict functional outcomes. Applied behavior analysis is one of the most common evidence-based treatments for ASD, but it is not accessible to most families in low- and middle-income countries (LMICs) as it is an expensive and intensive treatment and needs to be delivered by highly specialized professionals. Parental training has emerged as an effective alternative. This is an exploratory study to assess a parental intervention group via video modeling to acquire eye contact and joint attention. Four graded measures of eye contact and joint attention (full physical prompt, partial physical prompt, gestural prompt, and independent) were assessed in 34 children with ASD and intellectual disability (ID). There was a progressive reduction in the level of prompting required over time to acquire eye contact and joint attention, as well as a positive correlation between the time of exposure to the intervention and the acquisition of abilities. This kind of parent training using video modeling to teach eye contact and joint attention skills to children with ASD and ID is a low-cost intervention that can be applied in low-resource settings.

1H NMR Metabolomics and Lipidomics To Monitor Positive Responses in Children with Autism Spectrum Disorder Following a Guided Parental Intervention: A Pilot Study.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that is characterized by patients displaying at least two out of the classical symptoms, such as impaired social communication, impaired interactions, and restricted repetitive behavior. Early parent-mediated interventions, such as video modeling for parental training, were demonstrated to be a successful low-cost way to deliver care for children with ASD. Nuclear magnetic resonance (NMR)-based metabolomics/lipidomics has been successfully employed in several mental disorder studies. Metabolomics and lipidomics of 37 ASD patients (children, aged 3-8 years), who were divided into two groups, one control group with no parental-training intervention (N = 18) and the other in which the parents were trained by a video modeling intervention (ASD parental training, N = 19), were analyzed by proton NMR spectroscopy. Patients in the ASD parental-training group sera were seen to have increased glucose, myo-inositol, malonate, proline, phenylalanine, and gangliosides in their blood serum, while cholesterol, choline, and lipids were decreased, compared to the control group, who received no parental-training. Taken together, we demonstrated here significant changes in serum metabolites and lipids in ASD children, previously demonstrated to show clinical positive effects following a parental training intervention based on video modeling, delivered over 22 weeks. We demonstrate the value of applying metabolomics and lipidomics to identify potential biomarkers for clinical interventions follow-up in ASD.

Profile of Service Use and Barriers to Access to Care among Brazilian Children and Adolescents with Autism Spectrum Disorders.

Delayed diagnosis and a lack of adequate care for people with autism spectrum disorder (ASD) are related to worse outcomes and quality of life. This study aimed to identify the profile of service use, barriers to access care, and factors related to those barriers in Brazilian families with children with ASD. A total of 927 families with children with ASD (3-17 years) from five Brazilian regions completed an online version of the Caregivers Needs Survey. Results showed that the most used services were behavioral interventions and pharmacotherapy, while the most used professionals were neurologists, nutritionists, speech therapists, psychiatrists, psychologists, and pediatricians. The main barriers included waiting lists, costs, and the absence of services or treatment. Service use varied according to age, the region of residence, type of health care system used, and the parents/caregivers' education. Access to behavioral interventions was more frequent among users of the private system/health insurance and families whose caregivers had higher education. The absence of specialized services/treatments was less frequent among residents of state capitals and families whose caregivers had higher levels of education. This study highlights how families with children/adolescents with ASD in Brazil face significant barriers to access care related to sociodemographic factors.

Environmental Influences Measured by Epigenetic Clock and Vulnerability Components at Birth Impact Clinical ASD Heterogeneity.

Although Autism Spectrum Disorders (ASD) is recognized as being heavily influenced by genetic factors, the role of epigenetic and environmental factors is still being established. This study aimed to identify ASD vulnerability components based on familial history and intrauterine environmental stress exposure, explore possible vulnerability subgroups, access DNA methylation age acceleration (AA) as a proxy of stress exposure during life, and evaluate the association of ASD vulnerability components and AA to phenotypic severity measures. Principal Component Analysis (PCA) was used to search the vulnerability components from 67 mothers of autistic children. We found that PC1 had a higher correlation with psychosocial stress (maternal stress, maternal education, and social class), and PC2 had a higher correlation with biological factors (psychiatric family history and gestational complications). Comparing the methylome between above and below PC1 average subgroups we found 11,879 statistically significant differentially methylated probes (DMPs, p < 0.05). DMPs CpG sites were enriched in variably methylated regions (VMRs), most showing environmental and genetic influences. Hypermethylated probes presented higher rates in different regulatory regions associated with functional SNPs, indicating that the subgroups may have different affected regulatory regions and their liability to disease explained by common variations. Vulnerability components score moderated by epigenetic clock AA was associated with Vineland Total score (p = 0.0036, adjR2 = 0.31), suggesting risk factors with stress burden can influence ASD phenotype.

The Impact of the Implementation of the Picture Exchange Communication System - PECS on Understanding Instructions in Children with Autism Spectrum Disorders. / O impacto da implementação do Picture Exchange Communication System - PECS na compreensão de instruções em crianças com Transtorno do Espectro do Autismo.

PURPOSE: The purpose of this study was to analyze the impact of the implementation of the Picture Exchange Communication System (PECS) on the comprehension of instructions by children with Autism Spectrum Disorder (ASD). METHODS: This is a longitudinal study (N° 0809/2018). The sample consisted of 20 children with nonverbal ASDs, 15 boys and 5 girls, aged 6 to 12 years, evaluated and diagnosed by a multidisciplinary team according to the DSM-5. For assessment of the comprehension of instructions, we used eight visual instructions and eight oral instructions, which were applied at two points in the PECS Implementation Program: early phases II and IV. The program consisted of 24 individual speech therapy sessions with the presence of a family member and followed the six phases originally proposed by the PECS Training Manual. RESULTS: There was an expressive increase in the comprehension of all instructions, in the comparison between the two moments of the study; and this increase was statistically significant in six of the oral instructions (p=0.001) and five of the visual ones (p=0.002). CONCLUSION: It was possible to observe the positive impact of the use of PECS in the comprehension of both visual and oral instructions, showing that this system not only provides an augmentative or alternative communication tool for the children to express themselves but also promotes significant improvement in the understanding of contextual information.

OBJETIVO: O objetivo deste estudo foi analisar o impacto da implementação do Picture Exchange Communication System ­ PECS na compreensão de instruções de crianças com Transtorno do Espectro do Autismo (TEA). MÉTODO: Trata-se de estudo longitudinal. A amostra foi constituída por 20 crianças com TEA não verbais, sendo 15 meninos e 5 meninas, na faixa etária de 6 a 12 anos, avaliadas e diagnosticadas por equipe multidisciplinar, segundo os critérios do DSM-5. Para avaliação da compreensão de instruções foram aplicadas 8 instruções visuais e 8 instruções orais, em dois momentos do Programa de Implementação do PECS: no início das fases II e IV. O programa foi composto por 24 sessões de terapia fonoaudiológica individual com a presença do familiar e obedeceu às seis fases propostas originalmente pelo Manual de Treinamento do PECS. RESULTADOS: Houve aumento expressivo na compreensão de todas as instruções, na comparação entre os dois momentos do estudo; sendo que em seis das instruções orais (p=0,001) e cinco das instruções visuais (p=0,002), esse aumento foi estatisticamente significante. CONCLUSÃO: Foi possível observar o impacto positivo do uso do PECS na compreensão de instruções tanto visuais quanto orais, mostrando que esse sistema não apenas fornece uma ferramenta de comunicação aumentativa ou alternativa para a criança se expressar, mas também promove melhora significativa na compreensão das informações contextuais.

O impacto da implementação do Picture Exchange Communication System - PECS na compreensão de instruções em crianças com Transtorno do Espectro do Autismo / The Impact of the Implementation of the Picture Exchange Communication System - PECS on Understanding Instructions in Children with Autism Spectrum Disorders

RESUMO Objetivo O objetivo deste estudo foi analisar o impacto da implementação do Picture Exchange Communication System - PECS na compreensão de instruções de crianças com Transtorno do Espectro do Autismo (TEA). Método Trata-se de estudo longitudinal. A amostra foi constituída por 20 crianças com TEA não verbais, sendo 15 meninos e 5 meninas, na faixa etária de 6 a 12 anos, avaliadas e diagnosticadas por equipe multidisciplinar, segundo os critérios do DSM-5. Para avaliação da compreensão de instruções foram aplicadas 8 instruções visuais e 8 instruções orais, em dois momentos do Programa de Implementação do PECS: no início das fases II e IV. O programa foi composto por 24 sessões de terapia fonoaudiológica individual com a presença do familiar e obedeceu às seis fases propostas originalmente pelo Manual de Treinamento do PECS. Resultados Houve aumento expressivo na compreensão de todas as instruções, na comparação entre os dois momentos do estudo; sendo que em seis das instruções orais (p=0,001) e cinco das instruções visuais (p=0,002), esse aumento foi estatisticamente significante. Conclusão Foi possível observar o impacto positivo do uso do PECS na compreensão de instruções tanto visuais quanto orais, mostrando que esse sistema não apenas fornece uma ferramenta de comunicação aumentativa ou alternativa para a criança se expressar, mas também promove melhora significativa na compreensão das informações contextuais.

ABSTRACT Purpose The purpose of this study was to analyze the impact of the implementation of the Picture Exchange Communication System (PECS) on the comprehension of instructions by children with Autism Spectrum Disorder (ASD). Methods This is a longitudinal study (N° 0809/2018). The sample consisted of 20 children with nonverbal ASDs, 15 boys and 5 girls, aged 6 to 12 years, evaluated and diagnosed by a multidisciplinary team according to the DSM-5. For assessment of the comprehension of instructions, we used eight visual instructions and eight oral instructions, which were applied at two points in the PECS Implementation Program: early phases II and IV. The program consisted of 24 individual speech therapy sessions with the presence of a family member and followed the six phases originally proposed by the PECS Training Manual. Results There was an expressive increase in the comprehension of all instructions, in the comparison between the two moments of the study; and this increase was statistically significant in six of the oral instructions (p=0.001) and five of the visual ones (p=0.002). Conclusion It was possible to observe the positive impact of the use of PECS in the comprehension of both visual and oral instructions, showing that this system not only provides an augmentative or alternative communication tool for the children to express themselves but also promotes significant improvement in the understanding of contextual information.

Challenges, priorities, barriers to care, and stigma in families of people with autism: Similarities and differences among six Latin American countries.

LAY ABSTRACT: Approximately 6 million individuals with autism spectrum disorder live in Latin America. In order to strengthen autism spectrum disorder research collaborations and awareness in the region, the Latin American Autism Spectrum Network (Red Espectro Autista Latinoamerica) was constituted in 2015, comprising researchers and clinicians from the following six countries: Brazil Argentina, Chile, Uruguay, Venezuela, and the Dominican Republic. This first multisite study from the Red Espectro Autista Latinoamerica network aims to describe the challenges and priorities to identify barriers to care and to map stigma among families of individuals with autism spectrum disorder living in Latin America. A total of 2942 caregivers from these six countries completed an online survey showing that the main priorities were greater community awareness and improvements in the educational system for individuals with autism spectrum disorder. In addition to that, the main barriers to care were related to lack of structure, mainly waiting lists (50.2%), high treatment costs (35.2%), and lack of specialized services (26.1%). Stigma experienced by families was frequent: one third reported feeling discriminated against and helpless for having a child with autism spectrum disorder. Also, 48.8% of the caregivers declared financial problems, 47.4% of them had to cut down work hours, and 35.5% had to leave their jobs because of their child's autism spectrum disorder. This is a pioneer study providing a description of the needs and challenges faced by families affected by autism spectrum disorder in Latin America, helping to build data-driven strategies at the national and regional levels.

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER.

OBJECTIVE: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examination. This study aimed to translate into Brazilian Portuguese and culturally adapt the clinical signs described in the Autism Dysmorphology Measure, as well as validate the instrument in a sample of children with autism. METHODS: The original instrument was translated, culturally adapted, and published in full, following traditional procedures for translation, back-translation, and terminology adaptation according to the Nomina Anatomica. The sample included 62 children from a published multicenter study, with intelligence quotient between 50-69, of both genders, with chronological age between 3-6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. We used Cohen's Kappa coefficient to evaluate the agreement between the two observers. RESULTS: The final version of the instrument - translated into Brazilian Portuguese and culturally adapted - showed high agreement between the two observers. CONCLUSIONS: The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.

Translation, cultural adaptation, and evidence of instrument validity for a morphological examination performed in children with autism spectrum disorder / Tradução, adaptação cultural e evidência de validade de instrumento para o exame morfológico aplicado a crianças com transtorno do espectro autista

ABSTRACT Objective: For every 100 random children diagnosed with autism, at least 20 have morphological abnormalities, often associated with syndromes. Brazil does not have a standardized and validated instrument for morphological physical examination. This study aimed to translate into Brazilian Portuguese and culturally adapt the clinical signs described in the Autism Dysmorphology Measure, as well as validate the instrument in a sample of children with autism. Methods: The original instrument was translated, culturally adapted, and published in full, following traditional procedures for translation, back-translation, and terminology adaptation according to the Nomina Anatomica. The sample included 62 children from a published multicenter study, with intelligence quotient between 50-69, of both genders, with chronological age between 3-6 years. Two clinical geneticists performed the morphological physical examination, which consisted of investigating 82 characteristics assessing 12 body areas. We used Cohen's Kappa coefficient to evaluate the agreement between the two observers. Results: The final version of the instrument - translated into Brazilian Portuguese and culturally adapted - showed high agreement between the two observers. Conclusions: The translated instrument meets all international criteria, and minor anomalies and their clinical descriptions were standardized and are recognizable for physicians not specialized in genetics.

RESUMO Objetivo: Entre 100 crianças, não selecionadas, com diagnóstico de autismo, pelo menos 20 apresentam anomalias morfológicas, quase sempre associadas a síndromes. Não há no Brasil instrumento de exame físico morfológico padronizado e validado. O objetivo foi traduzir para o português do Brasil e adaptar culturalmente os sinais clínicos descritos no Autism Dysmorphology Measure, assim como procurar evidências de validade quando aplicado a uma amostra de crianças com autismo. Métodos: Foram feitas a tradução e a adaptação cultural do instrumento original, publicado na íntegra. Foram adotados os procedimentos tradicionais de tradução, retrotradução e adaptação da terminologia segundo a Nomina Anatomica. Foram incluídas na amostra 62 crianças com quociente de inteligência entre 50 e 69, de ambos os sexos, com idade cronológica entre três e seis anos, provenientes de estudo multicêntrico com os procedimentos metodológicos já publicados. O exame físico morfológico foi realizado por dois médicos geneticistas e consistiu na pesquisa de 82 características que avaliam 12 áreas corporais. Para avaliar a concordância entre os dois observadores foi utilizado o coeficiente Kappa de Cohen. Resultados: A versão final do instrumento traduzido e adaptado culturalmente ao português do Brasil mostrou alta concordância entre os dois observadores. Conclusões: O instrumento traduzido preenche todos os critérios propostos internacionalmente e o reconhecimento das anomalias menores e sua descrição clínica estão padronizados e são de fácil reconhecimento aos médicos não especialistas em genética.

Implementing a community-based parent training behavioral intervention for autism spectrum disorder / Capacitação parental para manejo de comportamentos disruptivos para tea em intervenção comportamental / Tea: capacitación de padres para manejo de conductas problemáticas

The autism spectrum disorder (ASD) affects developmental areas early in life and on families exert significant burden both emotionally and economically. This paper is a non-controlled, multicenter study to train caregivers of ASD individuals displaying disruptive behavior and deficit of communication, based on Applied Behavior Analysis. Results showed a reduction in the disruptive behavior measured by the Aberrant Behavior Checklist (ABC) and also the caregivers' depression and anxiety symptoms assessed by the Hamilton Scale. Group interventions may be an alternative for reaching a higher share of the population.

O transtorno do espectro do autismo (TEA) afeta precocemente áreas de desenvolvimento e resulta em uma sobrecarga significativa para as famílias, tanto emocional quanto economicamente. Este é um estudo não controlado, multicêntrico, com o objetivo de capacitar, com base na Análise Aplicada do Comportamento, cuidadores de indivíduos com TEA que apresentam comportamento disruptivo e deficit de comunicação. Os resultados mostraram redução nos comportamentos disruptivos, medidos pelo Aberrant Behavior Checklist (ABC), e também nos sintomas de depressão e ansiedade dos cuidadores, avaliados pela Escala de Hamilton. As intervenções em grupo podem ser uma alternativa viável para atingir uma parcela maior da população.

O transtorno do espectro do autismo (TEA) afeta precocemente áreas de desenvolvimento e resulta em uma sobrecarga significativa para as famílias, tanto emocional quanto economicamente. Este é um estudo não controlado, multicêntrico, com o objetivo de capacitar, com base na Análise Aplicada do Comportamento, cuidadores de indivíduos com TEA que apresentam comportamento disruptivo e deficit de comunicação. Os resultados mostraram redução nos comportamentos disruptivos, medidos pelo Aberrant Behavior Checklist (ABC), e também nos sintomas de depressão e ansiedade dos cuidadores, avaliados pela Escala de Hamilton. As intervenções em grupo podem ser uma alternativa viável para atingir uma parcela maior da população.

Identifying Autism with a Brief and Low-Cost Screening Instrument-OERA: Construct Validity, Invariance Testing, and Agreement Between Judges.

Simple and low-cost observational-tools to detect symptoms of Autism Spectrum Disorder (ASD) are still necessary. The OERA is a new assessment tool to screen children eliciting observable behaviors with no substantial knowledge on ASD required. The sample was 99 children aged 3-10: 76 with ASD and 23 without ASD (11/23 had intellectual disability). The 13 remained items exhibited high interrater agreement and high reliability loaded onto a single latent trait. Such model showed excellent fit indices evaluated via confirmatory factor analysis and no item showed differential function in terms of age/sex/IQ. A cutoff of five points or higher resulted in the highest sensitivity (92.75) and specificity (90.91) percentages. OERA is a brief, stable, low-cost standardized observational-screening to identify ASD children.

Barriers to early identification of autism in Brazil

Objective: Parents of children with autism spectrum disorders (ASD) seem to perceive that their child's development is not following the normal pattern as early as the first year of life. However, ASD children may not receive a diagnosis until they are of preschool age, especially in low- and middle-income countries. The objective of this study was to evaluate the pathway between initial parental concerns about atypical child development and ASD diagnosis in Brazil. Methods: Nineteen mothers whose children had been diagnosed with ASD participated and were interviewed. The ASD group consisted of two girls and 17 boys, with a mean age of 93.0 months (SD 48.4 months; range 39-197 months). Results: Mothers had their first concerns regarding ASD when children were 23.6±11.6 months old, but formal diagnosis occurred at a mean ± SD age of 59.6±40.5 months, corresponding to a 3-year delay. Most mothers felt discouraged to address their concerns due to negative experiences with health professionals. Conclusion: In Brazil, mothers perceived the first signs of ASD in their children at an age similar to that reported in other countries, but the diagnosis of ASD seemed to be delayed. Consistent with the literature, mothers reported negative experiences with health professionals during the pathway to achieving ASD diagnosis.

Barriers to early identification of autism in Brazil.

OBJECTIVE: Parents of children with autism spectrum disorders (ASD) seem to perceive that their child's development is not following the normal pattern as early as the first year of life. However, ASD children may not receive a diagnosis until they are of preschool age, especially in low- and middle-income countries. The objective of this study was to evaluate the pathway between initial parental concerns about atypical child development and ASD diagnosis in Brazil. METHODS: Nineteen mothers whose children had been diagnosed with ASD participated and were interviewed. The ASD group consisted of two girls and 17 boys, with a mean age of 93.0 months (SD 48.4 months; range 39-197 months). RESULTS: Mothers had their first concerns regarding ASD when children were 23.6±11.6 months old, but formal diagnosis occurred at a mean ± SD age of 59.6±40.5 months, corresponding to a 3-year delay. Most mothers felt discouraged to address their concerns due to negative experiences with health professionals. CONCLUSION: In Brazil, mothers perceived the first signs of ASD in their children at an age similar to that reported in other countries, but the diagnosis of ASD seemed to be delayed. Consistent with the literature, mothers reported negative experiences with health professionals during the pathway to achieving ASD diagnosis.

Procedures and compliance of a video modeling applied behavior analysis intervention for Brazilian parents of children with autism spectrum disorders.

Video modeling using applied behavior analysis techniques is one of the most promising and cost-effective ways to improve social skills for parents with autism spectrum disorder children. The main objectives were: (1) To elaborate/describe videos to improve eye contact and joint attention, and to decrease disruptive behaviors of autism spectrum disorder children, (2) to describe a low-cost parental training intervention, and (3) to assess participant's compliance. This is a descriptive study of a clinical trial for autism spectrum disorder children. The parental training intervention was delivered over 22 weeks based on video modeling. Parents with at least 8 years of schooling with an autism spectrum disorder child between 3 and 6 years old with an IQ lower than 70 were invited to participate. A total of 67 parents fulfilled the study criteria and were randomized into two groups: 34 as the intervention and 33 as controls. In all, 14 videos were recorded covering management of disruptive behaviors, prompting hierarchy, preference assessment, and acquisition of better eye contact and joint attention. Compliance varied as follows: good 32.4%, reasonable 38.2%, low 5.9%, and 23.5% with no compliance. Video modeling parental training seems a promising, feasible, and low-cost way to deliver care for children with autism spectrum disorder, particularly for populations with scarce treatment resources.

Impact of training in autism for primary care providers: a pilot study.

OBJECTIVE: To evaluate the impact of a training program on autism spectrum disorder (ASD) identification offered to Brazilian health professionals. METHODS: Twenty-two primary care providers participated in five 3-hour weekly training sessions. RESULTS: The trained providers significantly improved their ASD knowledge after training in comparison with pre-training (mean score, 6.73 vs. 9.18, p < 0.01). Clinical practice also changed: 4 months after the training program, the providers had referred six times as many suspected cases of ASD to a specialized mental health service in comparison with the previous 4 months. CONCLUSION: This pilot training model seems a promising, feasible, and inexpensive way to improve early identification of ASD in the primary care system.

Autism spectrum disorders: an overview on diagnosis and treatment.

Pervasive developmental disorders are now commonly referred to as autism spectrum disorders (ASDs). ASDs present with a range of severity and impairments, and often are a cause of severe disability, representing a major public health concern. The diagnostic criteria require delays or abnormal functioning in social interaction, language, and/or imaginative play within the first 3 years of life, resulting in a deviation from the developmental pattern expected for the age. Because establishing a diagnosis of ASD is possible as early as 18-24 months of age, clinicians should strive to identify and begin intervention in children with ASD as soon as signs are manifest. Increasing efforts are underway to make ASD screening universal in pediatric healthcare. Given the crucial importance of early identification and multiple modalities of treatment for ASD, this review will summarize the diagnostic criteria, key areas for assessment by clinicians, specific scales and instruments for assessment, and discussion of evidence-based treatment programs and the role of specific drug therapies for symptom management.

Autism spectrum disorders: an overview on diagnosis and treatment

Pervasive developmental disorders are now commonly referred to as autism spectrum disorders (ASDs). ASDs present with a range of severity and impairments, and often are a cause of severe disability, representing a major public health concern. The diagnostic criteria require delays or abnormal functioning in social interaction, language, and/or imaginative play within the first 3 years of life, resulting in a deviation from the developmental pattern expected for the age. Because establishing a diagnosis of ASD is possible as early as 18-24 months of age, clinicians should strive to identify and begin intervention in children with ASD as soon as signs are manifest. Increasing efforts are underway to make ASD screening universal in pediatric healthcare. Given the crucial importance of early identification and multiple modalities of treatment for ASD, this review will summarize the diagnostic criteria, key areas for assessment by clinicians, specific scales and instruments for assessment, and discussion of evidence-based treatment programs and the role of specific drug therapies for symptom management.