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.

Escrita em alunos com dificuldades de aprendizagem: Efeito Mateus / Writing in students with learning difficulties: Matthew effect

O estudo investigou a linguagem escrita de crianças do 2º e 4º anos com e sem sinais de transtorno específico de aprendizagem. Objetivou comparar as escritas entre dois os grupos de alunos, de modo a verificar se a diferença entre eles seria menor nas séries iniciais e tenderia a aumentar nas séries finais, como previsto teoricamente com base no efeito Mateus. Participaram do estudo 51 professores e 1085 alunos, sendo 49 indicados com sinais compatíveis com o transtorno específico de aprendizagem. O instrumento utilizado para analisar a escrita dos alunos foi o Teste de Desempenho Escolar (TDE-II). A partir das análises realizadas, observou-se que o total de palavras certas no ditado do TDE-II foi maior no 4º ano do que no 2º ano para a amostra total, como esperado, e que a diferença entre os alunos com e sem queixas de dificuldades foi maior no 4º ano do que no 2º ano. Análise de post-hoc revelou que não houve diferença estatisticamente significativa entre os alunos com queixas do 2º ano e do 4º ano, ou seja, a diferença entre eles foi tão pequena que não se mostrou significativa. Tal resultado corrobora o efeito Mateus, sugerindo que crianças com dificuldades ao início da escolarização tendem a apresentar menores ganhos e se distanciar cada vez mais dos colegas com habilidades mais desenvolvidas. Logo, estratégias e intervenções precisam ser desenvolvidas para facilitar o desenvolvimento da linguagem escrita das crianças e promover avanços logo ao início da escolarização.

The study investigated writing of 2nd and 4th grade children with and without signs of the specific learning disorder, and aimed to compare the difference in writing between these two groups of students, to analyze whether the difference between them would be smaller in the early grades and would tend to increase in the final grades, as theoretically predicted by Matthew effect. 51 teachers and 1085 students participated in this study, among which 49 had signs compatible with the specific learning disorder. The instrument used to analyze the students writing was the School Performance Test (TDE-II). It was observed that, in general, the total number of correct words in the TDE-II dictation was greater in the 4th grade, compared to the 2nd grade, as expected, and the difference between students with and without complaints of difficulties was greater among the students in 4th grade than among 2nd grade students. Post-hoc tests showed that there was no statistically significant difference between 2nd grade students with complaints and 4th grade students of with complaints, that is, the difference between them was so small that it was not significant. This result corroborates the "Matthew effect": children with difficulties at the beginning of schooling tend to present lower gains and, increasingly, distance themselves from colleagues with more developed skills. Thus, strategies and interventions must be designed to facilitate children's literacy and promote advances at beginning of schooling.

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.

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.

SARS-CoV-2 pandemic in the Brazilian community of rare diseases: A patient reported survey.

The COVID-19 pandemic has led to a reorganization of health systems to prioritize the fight against the virus. The adoption of social distancing interfered with the flow of existing policies, and may thus negatively affect the most vulnerable groups, such as the rare disease community. Aimming at characterizing the perception of the impact of COVID-19 on the health care of the Brazilian rare disease community, an online questionnaire addressed to patients with rare diseases and their caregivers was disseminated in the Brazilian territory between June 1st to July 5th, 2020. The questions dealt with the sanitary measures adopted; access to medical services; and mental suffering during the pandemic. The survey was answered by 1,466 participants (<18 yo = 53.3%) representing 192 rare diseases. Regarding physical distancing, 1,372 (93.6%) participants did not leave their residence, or did so only when essential; 1,321 (90.1%) always wore masks when leaving home. 1,042 (71.1%) and 995 (67.9%) participants, respectively, referred medical genetics appointments and rehabilitation therapies were postponed/canceled. Telemedicine was experienced by 1,026 (70%), and 68.3% agreed this is a good strategy for health care. Patients with Inborn Errors of Metabolism (IEM, n = 624, 42.5%) appear to have more access to information and ability to overcome difficulties, and feel less threatened, lonely and depressed than the non-IEM group (p < .05). There was an increment of the rare disease patients' vulnerability in the pandemic scenario. The cooperation of patients/caregivers along with adaptation of the health system is crucial and may be so even post-pandemic.

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.

Word loss trajectory in autism spectrum disorder: analysis of home videos / Perda de palavras no transtorno do espectro autista: análise de vídeos caseiros / Pérdida del vocabulario en el trastorno del espectro autista: análisis de videos caseros

The regression of previously acquired skills has been highlighted as a potential early indicator of Autism Spectrum Disorder (ASD). The aims of the study were to validate parental reports regarding the occurrence of word loss and to investigate the characteristics of the words and other skills in a child aged 42 months with ASD over a 10-month period. It is a longitudinal and exploratory case study using systematic observation. Ten home videos showing the child's behavior between 13 and 23 months of age were analyzed according to the home video observation protocol and PROTEA-R. A total of 171 episodes involving the investigated behaviors were identified, which included the use of 51 words (the majority being nouns). Word loss and loss of other skills (play and social abilities) were observed. Word loss was the first or primary motive for parental concern, reinforcing that this phenomenon constitutes a potential early indicator of ASD.

A regressão de habilidades previamente adquiridas tem sido destacada como um potencial indicador precoce do Transtorno do Espectro Autista (TEA). Os objetivos do estudo de caso longitudinal e exploratório, utilizando observação sistemática foram validar os relatos dos pais sobre a perda de palavras, investigar suas características e outras habilidades em uma criança de 42 meses com TEA ao longo de um período de 10 meses. Foram analisados dez vídeos mostrando o comportamento da criança entre 13 e 23 meses de idade de acordo com um protocolo de observação de vídeos caseiros e do PROTEA-R. Analisamos 171 episódios envolvendo os comportamentos investigados, incluindo o uso de 51 palavras (a maioria substantivos). Observamos perda de palavras e perda de outras habilidades (de brincar e habilidades sociais). A perda de palavras foi o primeiro ou principal motivo de preocupação dos pais, reforçando que esse fenômeno constitui um indicador precoce potencial de TEA.

La regresión de habilidades previamente adquiridas es destacada como un potencial indicador precoz del Trastorno del Espectro del Autismo (TEA). Los objetivos del estudio de caso longitudinal y exploratorio, utilizando observación sistemática, fueron validar relatos de los padres sobre pérdida de vocabulario, investigar sus características y otras habilidades en un niño de 42 meses con TEA en un período de 10 meses. Se analizaron diez vídeos mostrando la conducta del niño entre 13 y 23 meses de edad de acuerdo con un protocolo de observación de vídeos caseros y el PROTEA-R. Analizamos 171 episodios que involucra los comportamientos investigados, incluyendo el uso de 51 palabras (la mayoría de ellos sustantivos). Observamos pérdida de vocabulario y pérdida de otras habilidades (jugar y habilidades sociales). La pérdida de vocabulario fue el primer o principal motivo de preocupación de los padres, reforzando que ese fenómeno constituye un indicador precoz potencial de TEA.

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.

Determining the frequency of morphological characteristics in a sample of Brazilian children / Determinação de frequência de características morfológicas em uma amostra de crianças brasileiras

Abstract Objective: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. Methods: This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample. This protocol was culturally adapted to Brazilian Portuguese. Results: The frequency of 82 morphological characteristics was established in the sample; of 82 characteristics, 50% were considered morphological anomalies (frequency less than 4%). At least 25% of the sample presented more than one minor morphological anomaly. Age was shown to influence the frequency of the following morphological characteristics: widow's peak, prominent antihelix, prominent upper lip, irregular or crowded teeth, and clinodactyly, but had no influence on the frequency of minor morphological anomalies. Gender influenced dysplastic ears and attached earlobe, but had no influence on the frequency of minor morphological anomalies; ethnicity showed influence on camptodactyly and prominent antihelix. A statistically significant divergence was observed regarding 43 of the 73 morphological characteristics that could be compared with literature data (58.9%). Conclusions: The study determined the frequency of 82 morphological characteristics in 239 children with typical development. Age was the variable that showed more influence on the frequency of morphological characteristics, and comparison with literature data showed that the frequency depends on variables such as age and ethnicity.

Resumo Objetivo: Estabelecer a frequência de 82 características morfológicas em uma amostra de crianças brasileiras (entre três e 13 anos), para entender a influência da idade, do sexo e da etnia. Métodos: Estudo transversal. Avaliamos 239 crianças com desenvolvimento típico (entre três e 13 anos), em relação à presença de 82 características morfológicas. Aplicamos um protocolo descrito anteriormente, baseado no London Dysmorphology Database, para avaliar nossa amostra. Esse protocolo foi culturalmente adaptado ao português do Brasil. Resultados: A frequência de 82 características morfológicas foi estabelecida em nossa amostra; de 82 características, 50% foram consideradas anomalias morfológicas (frequência inferior a 4%). Pelo menos 25% da nossa amostra apresentaram mais de uma anomalia morfológica menor. A idade mostrou influência na frequência das seguintes características morfológicas: "bico de viúva", "anti-hélice proeminente", "lábio superior proeminente", "dentes irregulares ou encavalados" e "clinodactilia", mas não teve influência na frequência de anomalias morfológicas menores. O sexo mostrou influência nas seguintes características: "orelhas displásicas" e "lóbulo da orelha aderente", mas não teve influência na frequência de anomalias morfológicas menores; a etnia mostrou influência na "camptodactilia" e "anti-hélice proeminente". Houve divergência (estatisticamente significativa) em 43 características morfológicas de 73 que pudemos comparar com os dados da literatura (58,9%). Conclusões: Estabelecemos a frequência de 82 características morfológicas em 239 crianças com desenvolvimento típico. A idade foi a variável que mostrou maior influência na frequência de características morfológicas e a comparação com dados da literatura mostrou que a frequência depende de variáveis como idade e etnia.

Determining the frequency of morphological characteristics in a sample of Brazilian children.

OBJECTIVE: To establish the frequency of 82 morphological features in a sample of Brazilian children (between 3 and 13 years old), to understand the influence of age, gender, and ethnicity. METHODS: This was a cross-sectional study that evaluated 239 children with typical development (between 3 and 13 years old) regarding the presence of 82 morphological characteristics. A previously described protocol, based on the London Dysmorphology Database, was applied to evaluate the sample. This protocol was culturally adapted to Brazilian Portuguese. RESULTS: The frequency of 82 morphological characteristics was established in the sample; of 82 characteristics, 50% were considered morphological anomalies (frequency less than 4%). At least 25% of the sample presented more than one minor morphological anomaly. Age was shown to influence the frequency of the following morphological characteristics: widow's peak, prominent antihelix, prominent upper lip, irregular or crowded teeth, and clinodactyly, but had no influence on the frequency of minor morphological anomalies. Gender influenced dysplastic ears and attached earlobe, but had no influence on the frequency of minor morphological anomalies; ethnicity showed influence on camptodactyly and prominent antihelix. A statistically significant divergence was observed regarding 43 of the 73 morphological characteristics that could be compared with literature data (58.9%). CONCLUSIONS: The study determined the frequency of 82 morphological characteristics in 239 children with typical development. Age was the variable that showed more influence on the frequency of morphological characteristics, and comparison with literature data showed that the frequency depends on variables such as age and ethnicity.

Mismatch between diagnostic reports and special educational needs classification in a public educational system.

OBJECTIVE: To assess the diagnostic status, the sociodemographic and health profiles for students with special educational needs (SEN) in a public educational system, and to map their use of educational/social services. METHODS: The sample comprised 1,202 SEN students from a total of 59,344 students. RESULTS: Only 792 students of the 1,202 had an established diagnosis. The most prevalent SEN condition was intellectual disability. There was a low percentage (29.4%) of use of specialized educational services or support. It was found that, for some neurodevelopmental disorders, prevalence data suggest an under-reporting in the school system. CONCLUSION: Results suggest that there is a mismatch between the diagnostic reports and the SEN condition legally recognized according to Brazilian law, in addition to the under-reporting and under specialized service use of students with disabilities.

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.

Mismatch between diagnostic reports and special educational needs classification in a public educational system / Descompasso entre os registros diagnósticos e a classificação de necessidade educacional especial em uma rede municipal de educação

ABSTRACT Objective To assess the diagnostic status, the sociodemographic and health profiles for students with special educational needs (SEN) in a public educational system, and to map their use of educational/social services. Methods The sample comprised 1,202 SEN students from a total of 59,344 students. Results Only 792 students of the 1,202 had an established diagnosis. The most prevalent SEN condition was intellectual disability. There was a low percentage (29.4%) of use of specialized educational services or support. It was found that, for some neurodevelopmental disorders, prevalence data suggest an under-reporting in the school system. Conclusion Results suggest that there is a mismatch between the diagnostic reports and the SEN condition legally recognized according to Brazilian law, in addition to the under-reporting and under specialized service use of students with disabilities.

RESUMO Objetivo Avaliar a situação diagnóstica, o perfil sociodemográfico e de saúde dos alunos com necessidades educacionais especiais (NEE) de uma rede municipal de educação, assim como mapear o uso de serviços educacionais e sociais. Métodos A amostra foi composta por 1202 alunos com NEE de um total de 59344 alunos. Resultados Dos 1202 alunos somente 792 tinha diagnóstico estabelecido. A condição de NEE mais prevalente foi a deficiência intelectual. Verificou-se um baixo percentual (29,4%) de uso de serviços educacionais especializados ou de apoio. Foi constatado que, para alguns transtornos do neurodesenvolvimento, os dados de prevalência parecem indicar uma subnotificação. Conclusão Os resultados sugerem um descompasso entre os registros diagnósticos e a condição de necessidade educacional especial segundo a legislação brasileira, além disso verificou-se uma subnotificação diagnóstica e baixo uso de serviços especializados entre estudantes com deficiências.

Microcephaly and other Zika virus related events: the impact on children, families and health teams. / Microcefalia e outras manifestações relacionadas ao vírus Zika: impacto nas crianças, nas famílias e nas equipes de saúde.

The present study aimed to present an overview of recent national and international research on the Zika virus (ZIKV), as well as to explore possible action plans focused on children, their families and the health teams involved.Therefore, the study proposes the implementation of tracking systems in order to identify, describe and characterize the potential correlates of prenatal exposure to ZIKV, divided into three lines of action: 1. Diagnostic and etiological evaluation as well as screening of developmental problems in children confirmed or suspected of prenatal ZIKV infection. 2. Investigation of the emotional impact, quality of life, coping strategies and support network of the affected children and their families. 3. Training of multidisciplinary teams to conduct assessments and intervention programs throughout these children's development, especially in the first three years of life. In conclusion, the recent ZIKV outbreak in Brazil and several other Latin American countries places a significant burden on the health care systems: to understand the real meaning of a potential new teratogen; to unravel the pathogenic mechanisms of ZIKV, particularly in a prevention perspective; and to recognize the broad spectrum of clinical manifestations in order to devise intervention programs.

Microcefalia e outras manifestações relacionadas ao vírus Zika: impacto nas crianças, nas famílias e nas equipes de saúde / Microcephaly and other Zika virus related events: the impact on children, families and health teams

Resumo O presente estudo objetivou apresentar um panorama nacional e internacional atual dos estudos sobre o vírus Zika (ZIKV) e, ancorado no avanço deste conhecimento, refletir sobre planos de ação voltados para as crianças, famílias e equipes de saúde envolvidas. Neste sentido, o estudo propôs a implementação de sistemas de seguimento para conhecer, descrever e caracterizar aspectos que devem estar relacionados à exposição pré-natal ao ZIKV, divididos em três eixos de atuação: 1. Avaliação diagnóstica e etiológica e rastreamento de problemas de desenvolvimento nas crianças incluídas como casos confirmados ou suspeitos. 2. Investigação do impacto emocional, da qualidade de vida, das estratégias de enfrentamento e da rede de apoio às famílias das crianças incluídas. 3. Capacitação de equipes multiprofissionais para avaliar e elaborar programas de intervenção ao longo do desenvolvimento das crianças, principalmente nos três primeiros anos de vida. Como conclusão, o presente trabalho ressalta que o sistema de assistência à saúde encontra-se diante de grandes desafios: entender o real significado de um potencial novo teratógeno; desvendar os mecanismos patogênicos do ZIKV, principalmente para o enfrentamento preventivo, e reconhecer o amplo espectro de manifestações clínicas para a elaboração de programas de intervenção.

Abstract The present study aimed to present an overview of recent national and international research on the Zika virus (ZIKV), as well as to explore possible action plans focused on children, their families and the health teams involved.Therefore, the study proposes the implementation of tracking systems in order to identify, describe and characterize the potential correlates of prenatal exposure to ZIKV, divided into three lines of action: 1. Diagnostic and etiological evaluation as well as screening of developmental problems in children confirmed or suspected of prenatal ZIKV infection. 2. Investigation of the emotional impact, quality of life, coping strategies and support network of the affected children and their families. 3. Training of multidisciplinary teams to conduct assessments and intervention programs throughout these children’s development, especially in the first three years of life. In conclusion, the recent ZIKV outbreak in Brazil and several other Latin American countries places a significant burden on the health care systems: to understand the real meaning of a potential new teratogen; to unravel the pathogenic mechanisms of ZIKV, particularly in a prevention perspective; and to recognize the broad spectrum of clinical manifestations in order to devise intervention programs.

Transtornos do espectro do autismo: avaliação e comorbidades em alunos de Barueri, São Paulo / Autism spectrum disorder: evaluation and comorbidities in students / Transtorno del espectro del autismo: evaluación y comorbidades en escolares de Barueri, São Paulo, Brasil

Entre 20% e 30% dos indivíduos encaminhados com suspeita diagnóstica de autismo para avaliação por equipes multidisciplinares, têm o diagnóstico descartado. Entre os casos positivos, 15% a 20% apresentam comorbidades genéticas e/ou ambientais. Entre setembro de 2011 e dezembro de 2014, foram avaliados 151 escolares da rede municipal de ensino de Barueri (SP) com o objetivo de validar a suspeita diagnóstica de transtorno global do desenvolvimento e investigar comorbidades genéticas e ambientais. Avaliação: anamnese perinatal, crescimento e desenvolvimento, histórico de saúde, comorbidades (anoxia perinatal, prematuridade, infecções e defeitos congênitos, síndromes genéticas, deficiência intelectual, epilepsia); escalas de triagem Inventário de Comportamentos Autísticos (Autism Behavior Checklist – ABC) e Questionário de Avaliação de Autismo (Autism Screening Questionnaire – ASQ). O método utilizado foi o de estudo de caso com a documentação disponível. Os principais resultados alcançados foram a exclusão do diagnóstico de TEA em 44 crianças (30%). Dentre os alunos com TEA, 22 (21%) apresentaram diversas comorbidades de causas genéticas e ambientais. Conclusões: 1. o diagnóstico de autismo registrado pelas escolas deve ser validado; 2. equipes acadêmicas interdisciplinares podem efetuar parcerias com sistemas educacionais; 3. protocolos clínicos básicos e disponíveis em nosso meio são eficazes tanto para validar o diagnóstico como para conhecer melhor o perfil cognitivo‑comportamental e as condições gerais de saúde dos alunos com autismo.

Among 20‑30% of patients with suspected autism referred for evaluation by multidisciplinary teams, have the diagnosed discarded and 15 to 20% have genetic and / or environmental comorbidities. From September 2011 to December 2014, through 15 task forces, physicians and neuropsychologists evaluated 151 children enrolled in municipal schools in the city of Barueri, São Paulo. Evaluation: perinatal history, growth and developmental milestones, health history, perinatal anoxia, prematurity, infection and birth defects, genetic syndromes, intellectual disability and epilepsy were recorded. Screening scales used were Autism Behavior Checklist (ABC) and the Autism Screening Questionnaire (ASQ). The main results were the exclusion of ASD diagnosis in 44 children (30%). Among ASD students 22 (21%) had several comorbidities of genetic and environmental causes. Conclusions: 1. the diagnosis of autism should be validated; 2. interdisciplinary academic teams with expertise in evaluation can make partnerships with educational systems and develop appropriate methods for this purpose; 3. basic and clinical protocols available in Brazil are effective both to validate the diagnosis and to better know the general health and cognitive‑behavioral of the students with autism.

Entre 20% e 30% de los individuos encaminados con sospecha diagnóstica de autismo para evaluación por equipos multidisciplinares tienen diagnóstico descartado. Entre los casos positivos, 15% a 20% presentan comorbidades genéticas y/o ambientales. Entre septiembre de 2011 a diciembre de 2014, fueron evaluados 151 escolares de una red municipal de enseñanza de Barueri, São Paulo. Evaluación: anamnesis perinatal, crecimiento y desarrollo, histórico de salud, comorbilidades (anoxia perinatal, prematuridad, infecciones y defectos congénitos, síndromes genéticos, deficiencia intelectual, epilepsia); escalas de despistaje Inventario de Conductas Autísticas (Autism Behavior Checklist – ABC) y Cuestionario de Evaluación de Autismo (Autism Screening Questionnaire – ASQ). Los principales resultados fueron la exclusión del diagnóstico de TEA en 44 niños (30%). Entre los estudiantes con TEA, 22 (21%) tuvieran varias comorbidades de causas genéticas e ambientales. Conclusiones: 1. el diagnóstico de autismo registrado por las escuelas debe ser validado; 2. equipos académicos interdisciplinares pueden efectuar colaboraciones con sistemas educacionales; 3. protocolos clínicos básicos y disponibles en nuestro medio son eficaces tanto para validar el diagnóstico como para conocer mejor las condiciones generales de salud y cognoscitivo‑conductuales de los alumnos con autismo.

Indicadores socioemocionais do espectro do autismo em pessoas com síndrome de Williams / Social and emotional indicators of the autism spectrum in individuals with Williams syndrome / Indicadores socio­emocionales del espectro del autismo en individuos con síndrome de Williams

A síndrome de Williams (SW) é uma desordem genética causada pela deleção de múltiplos genes no cromossomo 7. Evidências clínicas alertam para indicadores de prejuízos socioemocionais compatíveis com Transtorno do Espectro Autista (TEA). O objetivo do estudo foi identificar indicadores socioemocionais e comportamentais compatíveis com autismo em pessoas com SW. A amostra foi composta por 30 indivíduos com diagnóstico de SW e 22 com TEA. Os instrumentos de coleta de dados foram Inventário de Comportamentos Autísticos (Autism Behavior Checklist – ABC); e Questionário de Avaliação de Autismo (Autism Screening Questionnaire – ASQ), respondidos pelos respectivos cuidadores. Foi conduzida uma análise discriminante (modelo Step Wise) para diferenciação dos grupos a partir dos itens dos inventários ABC e ASQ. O grupo de pessoas com SW apresentou um número expressivo de sinais de alterações socioemocionais, comunicativas e de comportamento compatíveis com Autismo que predominaram na fase dos quatro a cinco anos de idade.

Williams Syndrome (WS) is a genetic disorder caused by the deletion of multiple genes on chromosome 7. Clinical evidence points to socio‑emotional alterations compatible with Autism Spectrum Disorder (ASD). The goal of this study was to identify socio‑emotional and behavioral signs compatible with ASD in individuals with WS. The sample consisted of 30 individuals with WS and 22 with ASD. The data collection instruments were Autism Behavior Checklist (ABC); and Autism Screening Questionnaire (ASQ) that were answered by the caregivers. We conducted a discriminant analysis (Step Wise) to differentiate the groups from items of the ABC and ASQ inventories. The WS group showed a large number of signs of socio‑emotional, communicative and behavioral alterations compatible with Autism that prevailed at the age of four to five years.

El Síndrome de Williams (SW) es una enfermedad genética causada por la delección de múltiplos genes en el cromosoma 7. Evidencias clínicas alertan para indicadores de afectaciones socio‑emocionales compatibles con Trastorno del Espectro del Autismo (TEA). El objetivo del estudio fue identificar indicadores socio‑emocionales y conductuales compatibles con Autismo en personas con SW. La muestra fue compuesta por 30 individuos con diagnóstico de SW y 22 con TEA. Los instrumentos de colecta de datos fueron Inventario de Conductas Autisticos (Autism Behavior Checklist – ABC); y Cuestionario de Conducta y Comunicación Social (Autism Screening Questionnaire – ASQ), respondidos por los respectivos cuidadores. Fue conducido un análisis discriminante (modelo Step Wise) para diferenciación de los grupos a partir de los itens de los inventarios ABC y ASQ. El grupo de personas con SW presentó un número expresivo de señales de alteraciones socio‑emocionales, comunicativas y de conducta compatibles con Autismo que predominaron en la fase de los cuatro a cinco años de edad.

Divorce in families of children with Down Syndrome or Rett Syndrome.

This study evaluates the impact in the stability and management of the marriage of parents of a child with Down or Rett Syndrome. Morbidity of the syndromes and the marital status of the couples before and after the birth of the affected children were considered variables. The divorce rate in families with Down syndrome was 10%, similar to the Brazilian rate population. In Rett Syndrome, the divorce rate was significantly higher, 23.5%. The higher morbidity of Rett Syndrome, and the moment of diagnosis could be relevant factors for the increased divorce rate related to this syndrome.