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.

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.

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.

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.

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.

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.