Perfil de atos comunicativos de crianças com transtorno do desenvolvimento de linguagem / Profile of communicative acts of children with developmental language disorder

RESUMO Objetivo Caracterizar os atos comunicativos de crianças com transtorno do desenvolvimento da linguagem, verificando a quantidade de atos comunicativos, atos comunicativos interativos e sua relação com a idade cronológica. Métodos Foram participantes 40 crianças de ambos os gêneros com diagnóstico de transtorno do desenvolvimento da linguagem com idades entre 3 anos e 2 meses e 7 anos e 11 meses. Todos os sujeitos foram avaliados com a Prova de Pragmática ABFW - Teste de Linguagem Infantil, em sua avaliação inicial. Especificamente para este estudo, focou-se na verificação da quantidade de atos comunicativos, atos comunicativos por minuto, atos comunicativos interativos e número de iniciativas comunicativas. Resultados Os dados indicaram que crianças com transtorno do desenvolvimento da linguagem apresentam alterações importantes em relação aos atos comunicativos e interações comunicativas e há correlação dessas variáveis com a idade cronológica. Conclusão Crianças com transtorno do desenvolvimento da linguagem apresentam diminuição no número de atos comunicativos, atos comunicativos interativos e interações comunicativas, quando comparadas aos valores de referência de crianças típicas, independentemente da idade.

ABSTRACT Purpose To characterize the communicative acts of children with Developmental Language Disorder, verifying the number of communicative acts, interactive communicative acts, and their relationship with chronological age. Methods Forty children of both sexes with a diagnosis of Developmental Language Disorder aged between 3 years and seven years and 11 months were subjects. All subjects were assessed with the ABFW Pragmatics Test - Child Language Test in their initial assessment. Specifically, this study focused on verifying the number of communicative acts, communicative acts per minute, interactive communicative acts, and the number of communicative initiatives. Results The data indicate that children with Developmental Language Disorder present significant alterations concerning communicative acts and communicative interactions, and there is a correlation between these variables and chronological age. Conclusion Children with Developmental Language Disorder show a decrease in the number of communicative acts, interactive communicative acts, and communicative interactions when compared to the reference values of typical children, regardless of age.

Analysis of a child with neurodevelopmental disorders due to variant of HNRNPU gene and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic variant in a child with neurodevelopmental disorders (NDDs).@*METHODS@#Clinical data of a child who had presented at Xiaogan Hospital Affiliated to Wuhan University of Science and Technology in December 2020 due to intermittent convulsions for over a year were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and bioinformatic analysis. "HNRNPU gene", "epilepsy", "epileptic encephalopathy", "hereditary epilepsy", "neurodevelopmental disorder", "neurodevelopmental syndrome", "HNRNPU", and "NDDs" were used as the key words to search the CNKI, Wanfang and PubMed databases dated from January 1, 1994 to February 10, 2022.@*RESULTS@#The patient was a 2-year-old boy who had developed seizure at the age of 5 months. His clinical features had included abnormal appearance, recurrent seizures, and low developmental quotients of each functional area as evaluated by the Gesell scale. The child was given sodium valproate for the antiepileptic treatment and rehabilitation training. He had become seizure-free within half a year of follow-up, but his intelligence and motor development did not improve significantly. Genetic testing revealed that he has harbored a heterozygous c.1720_1722delCTT (p.Lys574del) variant of the HNRNPU gene, which was not found in either of his parents. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic (PS2+PM2_Supporting+PM4). A total of 13 articles were retrieved, and the types of HNRNPU gene mutations have included splice site mutation, nonsense mutation, missense mutation, in-frame deletion, gene duplication, frameshifting mutation, and multiple exon deletion. The main clinical manifestations have included mental retardation, language delay, global developmental delay, epilepsy, craniofacial deformity, mental and behavioral abnormalities.@*CONCLUSION@#The c.1720_1722delCTT variant of the HNRNPU gene probably underlay the NDDs in this child. Above finding has enriched the mutational spectrum of the HNRNPU gene.

Correlation of early neurodevelopmental features of children with SYNGAP1 variants and their genotypes / 中华医学遗传学杂志

OBJECTIVE@#To explore the early neurodevelopmental features of young children with SYNGAP1 variants and their genotype-phenotype correlation.@*METHODS@#Young children with neurodevelopmental disorders (NDDs) (< 5 years old) who were referred to the Children's Hospital Affiliated to the Capital Institute of Pediatrics between January 2019 and July 2022 were selected as the study subjects. All children had undergone whole-exome sequencing, comprehensive pediatric neuropsychological assessment, familial segregation analysis, and pathogenicity classification. Meanwhile, young Chinese NDD children (< 5 years old) with pathogenic/likely pathogenic SYNGAP1 variants were retrieved from the literature, with information including detailed clinical and genetic testing, neurodevelopmental quotient (DQ) of the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). Children who did not have a detailed DQ but had their developmental status assessed by a medical professional were also included. The correlation between neurodevelopmental severity, comorbidity and SYNGAP1 variants were summarized.@*RESULTS@#Four young NDD children carrying SYNGAP1 variants were recruited (1 male and 3 females, with a mean age of 34.0 ± 18.2 months), among whom one harboring a novel variant (c.437C>G, p.S146*). Combined with 19 similar cases retrieved from the literature, 23 Chinese NDD young children were included in our study (8 males and 10 females, 5 with unknown sex, with a mean age of 37.1 ± 14.2 months). A loss of function (LOF) variant was found in 19 (82.6%) children. All of the children had presented global developmental delay (GDD) before the age of two. In addition, 16 (69.6%) had seizure/epilepsy at the age of 27.0 ± 12.1 months, among whom 15 had occurred independent of the global developmental delay. Myoclonic and absence were common types of seizures. Compared with those with variants of exons 8 to 15, the severity of developmental delay was milder among children with variants in exons 1 to 5.@*CONCLUSION@#The early neurodevelopment features of the SYNGAP1 variants for young children (< 5 years old) have included global developmental delay and seizure/epilepsy. All of the children may present GDD before the age of two. The severity of developmental delay may be related to the type and location of the SYNGAP1 variants.

Mercurio y trastornos del neurodesarrollo en niños: una revisión sistemática / Mercury and neurodevelopmental disorders in children: A systematic review

El mercurio es un metal tóxico que puede atravesar la placenta y la barrera hematoencefálica, y causar la interrupción de varios procesos celulares. Estudios han investigado la exposición al mercurio y trastornos en el neurodesarrollo, por lo que se requiere un análisis crítico y riguroso de esta evidencia. El objetivo de esta revisión fue evaluar la evidencia científica disponible sobre los efectos de la exposición al mercurio durante las etapas prenatal y posnatal, y su relación con el desarrollo de trastornos neuroconductuales. Se realizó una búsqueda sistemática en las bases de datos MEDLINE y ScienceDirect; los resultados se presentaron a través de tablas y síntesis narrativa. Solo 31 estudios cumplieron los criterios de elegibilidad. En general, la evidencia es limitada sobre los efectos de la exposición al mercurio y trastornos del neurodesarrollo en niños. Entre los posibles efectos reportados, se hallan problemas en el aprendizaje, autismo y trastorno por déficit de atención e hiperactividad.

Mercury is a toxic metal which can cross the placenta and the blood-brain barrier and cause the disruption of various cellular processes. Studies have investigated mercury exposure and neurodevelopmental disorders; therefore, a critical and rigorous analysis of this evidence is required. The objective of this review was to evaluate the available scientific evidence on the effects of mercury exposure during the prenatal and postnatal periods and its relationship with the development of neurobehavioral disorders. A systematic search of the MEDLINE and ScienceDirect databases was conducted; the results were presented in tables and narrative synthesis. Only 31 studies met the eligibility criteria. Overall, the evidence on the effects of mercury exposure and neurodevelopmental disorders in children is limited. Learning disabilities, autism, and attention deficit hyperactivity disorder were some of the reported potential effects.

Las funciones ejecutivas: su significado y aplicación clínica / Executive functions: meaning and clinical application

Las funciones ejecutivas generalmente se conceptualizan como un conjunto de procesos generales de control de orden superior que trabajan juntos para dirigir y gestionar las funciones cognitivas, emocionales y conductuales, especialmente durante la resolución activa de problemas. Su disfunción es frecuente de ser detectada como comorbilidad de otros trastornos del neurodesarrollo, causa o efecto? La detección precoz de la disfunción ejecutiva y su abordaje terapéutico temprano, mejora el pronóstico global madurativo en el periodo infantojuvenil. Esta sucinta revisión de las funciones ejecutivas intenta resaltar su importancia para el pediatra y su mirada de los trastornos del neurodesarrollo (AU)

Executive functions are typically understood as a set of general higher-order control processes that collectively direct and manage cognitive, emotional, and behavioral functions, especially during active problem solving. Their dysfunction is often detected as a comorbidity of other neurodevelopmental disorders; cause or effect? Early detection of executive dysfunction and a prompt therapeutic approach improves the overall developmental prognosis in childhood and adolescence. This brief review of executive functions aims to highlight their importance for the pediatrician and his/her view of neurodevelopmental disorder (AU)

Prediction of Perinatal and Neurodevelopmental Outcomes in Newborns with a Birth Weight below the 3rd Percentile: Performance of Two International Curves - Prospective Cohort from a Brazilian City / Predição de resultados perinatais e de neurodesenvolvimento em recém-nascidos com peso ao nascer abaixo do percentil 3: Desempenho de duas curvas internacionais - coorte prospectiva de uma cidade brasileira

Abstract Objectives To evaluate the performance of Intergrowth-21 st (INT) and Fetal Medicine Foundation (FMF) curves in predicting perinatal and neurodevelopmental outcomes in newborns weighing below the 3rd percentile. Methods Pregnant women with a single fetus aged less than 20 weeks from a general population in non-hospital health units were included. Their children were evaluated at birth and in the second or third years of life. Newborns (NB) had their weight percentiles calculated for both curves. Sensitivity, specificity, positive (PPV) and negative predictive value (NPV), and area under the ROC curve (ROC-AUC) for perinatal outcomes and neurodevelopmental delay were calculated using birth weight < 3rd percentile as the cutoff. Results A total of 967 children were evaluated. Gestational age at birth was 39.3 (± 3.6) weeks and birth weight was 3,215.0 (± 588.0) g. INT and FMF classified 19 (2.4%) and 49 (5.7%) newborns below the 3rd percentile, respectively. The prevalence of preterm birth, tracheal intubation >24 hours in the first three months of life, 5th minute Apgar <7, admission to a neonatal care unit (NICU admission), cesarean section rate, and the neurodevelopmental delay was 9.3%, 3.3%, 1.3%, 5.9%, 38.9%, and 7.3% respectively. In general, the 3rd percentile of both curves showed low sensitivity and PPV and high specificity and NPV. The 3rd percentile of FMF showed superior sensitivity for preterm birth, NICU admission, and cesarean section rate. INT was more specific for all outcomes and presented a higher PPV for the neurodevelopmental delay. However, except for a slight difference in the prediction of preterm birth in favor of INT, the ROC curves showed no differences in the prediction of perinatal and neurodevelopmental outcomes. Conclusion Birth weight below the 3rd percentile according to INT or FMF alone was insufficient for a good diagnostic performance of perinatal and neurodevelopmental outcomes. The analyzes performed could not show that one curve is better than the other in our population. INT may have an advantage in resource contingency scenarios as it discriminates fewer NB below the 3rd percentile without increasing adverse outcomes.

Resumo Objetivos Avaliar o desempenho das curvas de Intergrowth-21 st (INT) e Fetal Medicine Foundation (FMF) na predição de resultados perinatais e de neurodesenvolvimento de recém-nascidos com peso abaixo do percentil 3. Métodos Foram incluídas gestantes de feto único com idade inferior a 20 semanas de uma população geral em unidades de saúde não hospitalares. Seus filhos foram avaliados ao nascimento e no segundo ou terceiro anos de vida. Os recém-nascidos tiveram seus percentis de peso calculados para ambas as curvas. Sensibilidade, especificidade, valor preditivo positivo (VPP) e negativo (VPN) e área sob a curva ROC (ROC-AUC) foram calculados para desfechos perinatais e atraso de neurodesenvolvimento considerando o peso ao nascimento menor que o percentil 3 como ponto de corte. Resultados Um total de 967 crianças foram avaliadas ao nascimento e no segundo ou terceiro anos de vida. A idade gestacional ao nascer foi de 39,3 (±3,6) semanas e o peso ao nascimento foi de 3.215,0 (±588,0) g. INT e FMF classificaram 19 (2,4%) e49 (5,7%) recém-nascidos abaixo do percentil 3, respectivamente. A prevalência de parto prétermo, intubação traqueal > 24 horas nos primeiros três meses de vida, Apgar de 5° minuto < 7, internação em unidade de terapia intensiva neonatal (internação em UTIN), taxa de cesariana e atraso de neurodesenvolvimento foi 9,3%, 3,3%, 1,3%, 5,9%, 38,9% e 7,3% respectivamente. Em geral, o percentil 3 de ambas as curvas apresentou baixa sensibilidade e VPP e alta especificidade e VPN. O percentil 3 de FMF mostrou sensibilidade superior para parto prematuro, internação em UTIN e taxa de cesariana. INT foi mais específico para todos os desfechos e apresentou maior VPP para o atraso do neurodesenvolvimento. Entretanto, exceto por uma pequena diferença na predição de parto pré-termo em favor de INT, as curvas ROC não mostraram diferenças na predição de resultados perinatais e de desenvolvimento neurológico. Conclusão O peso ao nascer abaixo do percentil 3 segundo INT ou FMF isoladamente foi insuficiente para um bom desempenho diagnóstico de desfechos perinatais e de neurodesenvolvimento. As análises realizadas não puderam mostrar que uma curva é melhor que a outra em nossa população. INT pode ter vantagem em cenários de contingência de recursos, pois discrimina menos recém-nascidos abaixo do percentil 3 sem aumentar os desfechos adversos.

Consultas de demanda espontánea sobre trastornos del desarrollo en el Hospital Garrahan / Spontaneous consultations for developmental disorders at Garrahan Hospital

Introducción: Los trastornos del desarrollo (TD) constituyen un motivo de consulta muy frecuente en la práctica pediátrica. El Hospital Garrahan recibe por demanda espontánea al servicio de Mediano Riesgo (MR) consultas de cuidadores con preocupaciones sobre el desarrollo de los niños, niñas y adolescentes (NNyA). Allí son valorados por pediatras clínicos, quienes realizan la interconsulta al servicio de Clínicas Interdisciplinarias del Neurodesarrollo (CIND) según necesidad (representan el 10% del total de consultas en MR). El objetivo del trabajo es comparar las características de los pacientes de MR que fueron consultados al área de Maduración de CIND durante el bimestre marzo/abril de 2016, 2021 y 2022. Materiales y métodos: estudio retrospectivo, observacional y comparativo. Se revisaron las historias clínicas analizando las siguientes variables: edad, procedencia, contar con pediatra de cabecera, cobertura de salud, motivo de consulta y sospecha diagnóstica. Resultados: La cantidad de consultas aumentó por encima del 20%, con un descenso en la mediana de edad de alrededor de un año. Aproximadamente el 70% de los pacientes procedían del conurbano en los tres períodos. Observamos un descenso respecto al número de NNyA con seguimiento pediátrico y cobertura social. El lenguaje y la conducta fueron los motivos más frecuentes de consulta y la mayor sospecha diagnóstica fue el Trastorno del Espectro Autista (TEA). Conclusiones: Los datos observados pueden relacionarse con el impacto de la pandemia así como también con las condiciones socio-económicas de los últimos cinco años, con un mayor conocimiento acerca del desarrollo y un probable aumento de la prevalencia de los TD (AU)

Introduction: Developmental disorders (DD) are a frequent reason for consultation in pediatric practice. The Garrahan Hospital receives spontaneous consultations at the department of Intermediate Risk (IR) from caregivers with concerns about the development of children and adolescents. At the IR department, children and adolescents are evaluated by clinical pediatricians, who consult with specialists at the Interdisciplinary Neurodevelopmental Clinic (INDC) as needed (accounting for 10% of the total number of consultations at the IR department). The aim of this study was to compare the characteristics of IR patients who were consulted at the INDC during the bimonthly period March/April 2016, 2021, and 2022. Materials and methods: a retrospective, observational, and comparative study was conducted. Medical records were reviewed analyzing the following variables: age, provenance, having a primary care pediatrician, healthcare insurance, reason for consultation, and diagnostic suspicion. Results: The number of consultations increased by over 20%, with a decrease in median age of around one year. Approximately 70% of the patients came from Greater Buenos Aires in the three periods. A decrease in the number of children and adolescents with pediatric follow-up and a social health insurance was observed. Language and behavior disorders were the most frequent reasons for consultation and autism spectrum disorder (ASD) was most often suspected. Conclusions: The observed data may be related to the impact of the pandemic as well as socio-economic conditions over the last five years, together with increased knowledge about development and a probable increase in the prevalence of ASD (AU)

Comparación del desempeño de dos pruebas para la evaluación del neurodesarrollo infantil en un hospital pediátrico de la Ciudad Autónoma de Buenos Aires / Comparison of the performance of two tests for the assessment of child neurodevelopment in a children's hospital in the City of Buenos Aires

Introducción. La detección precoz de los trastornos del desarrollo permite aplicar acciones que mejoren su evolución y pronóstico. En nuestro país, la Prueba Nacional de Pesquisa (PRUNAPE) requiere de un profesional certificado. El Instrumento de Observación del Desarrollo Infantil (IODI) es una herramienta de vigilancia sistematizada del desarrollo que no requiere especialización para su aplicación. La utilización del IODI como herramienta de evaluación del neurodesarrollo sería de utilidad por su fácil aplicabilidad. Objetivo. Evaluar el desempeño del IODI como prueba de vigilancia de trastornos del desarrollo utilizando la PRUNAPE como patrón de oro. Población y métodos. Estudio prospectivo analítico de prueba diagnóstica. Se incluyeron de forma aleatoria pacientes de 1 mes a 4 años, cuyos padres dieron el consentimiento para participar. Se evaluó el desempeño del IODI usando la PRUNAPE como patrón de oro. Se estimaron los valores de clivaje de sensibilidad (S), especificidad (E), valores predictivos positivo y negativo (VPP y VPN), y las razones de verosimilitud positiva y negativa (RVP y RVN, respectivamente). Resultados. Se evaluaron 91 pacientes; 24 no pasaron la PRUNAPE, de los cuales 21 tampoco pasaron el IODI (sensibilidad: 87,5 %; especificidad: 79,1 %; valor predictivo positivo: 60,1 %; valor predictivo negativo: 94,6 %). Razón de verosimilitud positiva: 4,2; negativa: 0,2. Conclusión. El IODI mostró un desempeño aceptable como prueba de vigilancia de trastornos del desarrollo en comparación con la PRUNAPE.

Introduction. An early detection of developmental disorders allows to implement actions to improve their course and prognosis. In Argentina, the administration of the National Screening Test (Prueba Nacional de Pesquisa, PRUNAPE) requires a certified professional. The Child Development Observation Instrument (Instrumento de Observación del Desarrollo Infantil, IODI) is a systematized developmental surveillance tool that does not require specialization for its administration. The use of the IODI as a neurodevelopmental assessment tool would be useful because of its easy applicability. Objective. To assess the performance of the IODI as a surveillance test for developmental disorders using the PRUNAPE as a gold standard. Population and methods. Analytical, prospective study with a diagnostic test. Patients aged 1 month to 4 years, whose parents gave consent to participate, were included randomly. The IODI performance was assessed using the PRUNAPE as the gold standard. Sensitivity (S), specificity (Sp), positive and negative predictive values (PPV and NPV), and positive and negative likelihood ratios (PLR and NLR) were estimated. Results. Ninety-one patients were assessed; 24 failed the PRUNAPE, of these, 21 also failed the IODI (S: 87.5%, Sp: 79.1%, PPV: 60.1%, NPV: 94.6%). PLR: 4.2, NLR: 0.2. Conclusion. The IODI showed an acceptable performance as a developmental disorders surveillance test compared to the PRUNAPE.

Percepções de familiares sobre uma rede de cuidados de saúde mental infantojuvenil / Family perceptions about a children's mental health network / Percepciones familiares sobre una red de atención de salud mental infantojuvenil

Este artigo pretende conhecer como a rede de cuidados em saúde tem se operacionalizado a partir da percepção de familiares de crianças com demanda de cuidado em saúde mental (SM). Foram realizados dois grupos focais, um com familiares da Atenção Básica (AB) e outro com familiares do Centro de Atenção Psicossocial Infantojuvenil (CAPSij), totalizando 15 participantes. Seguiu-se com a análise lexical do tipo classificação hierárquica descendente, com o auxílio do software R Interface, a fim de análises multidimensionais de textos e questionários (IRaMuTeQ), resultando em cinco classes: A Pílula Mágica; Forças e Fraquezas dos serviços; Procurando por ajuda; Aceitando o diagnóstico da criança e Onde procurei ajuda. Os resultados apontam para dificuldades presentes na AB em identificar e manejar situações de Saúde Mental Infantojuvenil (SMIJ), por meio de uma lógica ainda medicalizante. Ressalta-se que a escola é apresentada como lugar de destaque na produção da demanda por cuidado e a família ainda é pouco convocada à construção das ações. Conclui-se, então, que avanços ainda são necessários para operacionalização de um cuidado pautado nas diretrizes da política de SMIJ.(AU)

This article aims to know how the healthcare network has been operationalized from the perception of family members of children with demand for mental health care (MH). Two focus groups were held, one with family members from Primary Care (PC) and the other with family members from the Child Psychosocial Care Center (CAPSij), totaling 15 participants. A lexical analysis of the descending hierarchical classification type was performed with the help of the software R Interface for multidimensional analyzes of texts and questionnaires (IRAMUTEQ), resulting in five classes: The Magic Pill; Strengths and Weaknesses of services; Looking for help; Accepting the child's diagnosis; and Where did I look for help. The results point to difficulties present in PC in identifying and managing situations of mental health in children and adolescents (MHCA), with a medicalization logic. Note that the school is presented as a prominent place in producing the demand for care, and the family is still not very much involved in the actions. It is, thus, concluded that advances are still needed for operationalization of care guided by MHCA policy guidelines.(AU)

Este artículo tuvo por objetivo conocer cómo opera una red asistencial a partir de la percepción de familiares de niños con demanda de atención en salud mental (SM). Se realizaron dos grupos focales, uno con familiares de Atención Primaria (AP) y otro con familiares del Centro de Atención Psicosocial Infantojuvenil (CAPSij), totalizando 15 participantes. Se realizó análisis léxico del tipo clasificación jerárquica descendente con la ayuda del software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires (IRAMUTEQ), lo que resultó en cinco clases: "La píldora mágica"; "Fortalezas y debilidades de los servicios"; "En busca de ayuda"; "Aceptar el diagnóstico del niño" y "¿Dónde busqué ayuda?". Los resultados apuntan las dificultades presentes en AP para identificar y manejar situaciones de salud mental infantojuvenil (SMIJ) mediante una lógica aún medicalizante. La escuela tiene un lugar destacado en la producción de la demanda de cuidados y la familia aún no está muy involucrada en la construcción de acciones. Se concluye que se necesitan avances para ofertar una atención guiada por lineamientos de la política del SMIJ.(AU)

Telas na infância: postagens de especialistas em grupos de cuidadores no facebook / Screens in childhood: posts of specialists in caretakers' groups in the facebook / Pantallas en la infancia: las publicaciones de expertos en grupos de cuidadores en facebook

Apesar das crescentes investigações sobre uso de telas na infância, essa é uma temática complexa e ainda recente, que traz diversos desafios para pesquisadores e cuidadores. Comunidades virtuais em redes sociais são utilizadas por mães e pais para esclarecer dúvidas e receber conselhos acerca da parentalidade e saúde infantil, podendo, simultaneamente, assumir uma função prescritiva e normativa quanto ao seu modo de agir. Sendo assim, este artigo pretende compreender como o uso de telas na infância vem sendo abordado por especialistas em grupos de mães e pais no Facebook. Foi realizado um estudo qualitativo envolvendo 49 postagens de especialistas, sobretudo psicólogos e educadores, extraídas de cinco grupos públicos de mães e pais nessa rede social. Os textos das publicações foram verificados por meio de análise temática e discutidos com base no referencial teórico psicanalítico. Os resultados mostraram que os especialistas destacam os possíveis prejuízos do uso de telas na infância, além de fornecer orientações aos pais sobre como lidar com sua presença no cotidiano das crianças e de suas famílias. Concluiu-se que apesar dos grupos de cuidadores no Facebook serem uma ferramenta de divulgação de informações acerca do uso de telas na infância, cabe não naturalizar a presença de especialistas nesses espaços virtuais criados por pais e mães, interpondo-se nos saberes e nas trocas horizontalizadas entre os cuidadores.(AU)

Although investigations on the use of screens in childhood are increasing, this is a complex and recent topic, which poses several challenges for researchers and caregivers. Virtual communities in social networks are used by mothers and fathers to clarify doubts and receive advice regarding parenting and child health, at times, simultaneously, assuming a prescriptive and normative role on their way of acting. Therefore, this study aimed to understand how the use of screens in childhood has been approached by experts in groups of mothers and fathers on Facebook. A qualitative study was carried out involving 49 posts from specialists, mainly psychologists and educators, extracted from five public groups of mothers and fathers in this social network. The publications' texts were verified via thematic analysis and discussed based on the psychoanalytical theoretical framework. The results showed that experts highlight the possible damage of the use of screens in childhood, in addition to providing guidance to parents on how to deal with the presence of digital technology in the daily lives of children and families. It was concluded that, although caregivers' groups on Facebook are a tool for disseminating information about the use of screens in childhood, it is important not to naturalize the presence of specialists in these virtual spaces created by fathers and mothers, interposing in the horizontally interchanges that occur between the caregivers.(AU)

A pesar de las crecientes investigaciones sobre el uso de pantallas en la infancia, este es un tema complejo y aún reciente, que plantea varios desafíos para investigadores y cuidadores. Las comunidades virtuales en las redes sociales son utilizadas por madres y padres para aclarar dudas y recibir consejos sobre educación y salud infantil, pudiendo, al mismo tiempo, asumir un rol prescriptivo y normativo sobre su forma de actuar. Por lo tanto, este estudio tuvo como objetivo comprender cómo el uso de las pantallas en la infancia ha sido abordado por especialistas en grupos de madres y padres en Facebook. Se realizó un estudio cualitativo a partir de 49 publicaciones de especialistas, principalmente de psicólogos y educadores, extraídas de cinco grupos públicos de madres y padres en esta red social. Se realizó en los textos de las publicaciones un análisis temático y se utilizó el marco teórico psicoanalítico. Los resultados mostraron que los expertos destacan posibles daños que provoca el uso de pantallas en la infancia, además de orientar a los padres sobre cómo afrontar esta presencia de la tecnología digital en el día a día de los niños y sus familias. Se concluyó que, a pesar de que los grupos de cuidadores en Facebook son una herramienta de difusión de información sobre el uso de pantallas en la infancia, es importante no naturalizar la presencia de especialistas en estos espacios virtuales creados por padres y madres que se interpone entre los saberes e intercambios horizontales de los cuidadores.(AU)

Características clínicas e sociodemográficas dos usuários de um centro de atenção psicossocial infantojuvenil em Porto Alegre a partir do Sistema de Gerenciamento de Consultas (GERCON) / Clinical and sociodemographic characteristics of users of centro de atenção psicossocial infantojuvenil in Porto Alegre since the implementation of Sistema de Gerenciamento de Consultas (GERCON)

Introdução: Desde maio de 2019, o acesso aos serviços especializados de saúde mental infantojuvenil do município de Porto Alegre ocorre através da regulação assistencial por intermédio do sistema Gerenciamento de Consultas (GERCON). O objetivo deste estudo foi caracterizar o perfil clínico e sociodemográfico dos usuários encaminhados para um Centro de Atenção Psicossocial Infantojuvenil (CAPSi) nos dois primeiros anos do GERCON. Métodos: Estudo transversal em que foram resgatados dados dos prontuários eletrônicos de crianças e adolescentes encaminhados para primeira consulta em um CAPSi de Porto Alegre, capital do estado do Rio Grande do Sul, no período de maio de 2019 a abril de 2021. Resultados: A maioria dos 134 usuários era do sexo masculino (59,8%), autodeclarados brancos (69,7%), naturais de Porto Alegre (87,9%) e com hipótese diagnóstica inicial de Retardo mental (28,9%), Transtornos emocionais e de comportamento com início usualmente ocorrendo na infância e adolescência (24,2%) e Transtornos do humor (20,3%). A média de idade foi 13,4 anos e a mediana 15 anos. A taxa de absenteísmo na primeira consulta foi de 24,7%. Conclusão: A maioria dos usuários encaminhados para o CAPSi HCPA era do sexo masculino, adolescente, natural de Porto Alegre e com a hipótese diagnóstica inicial de transtornos do neurodesenvolvimento. Há uma elevada taxa de absenteísmo. Ao planejar intervenções para crianças e adolescentes que necessitam de atendimento em CAPSi é importante considerar o perfil nosológico e as características sociodemográficas dos usuários, assim como pensar em estratégias para diminuir o absenteísmo.

Introduction: Since May 2019, access to child and adolescent mental health services in the city of Porto Alegre has been managed through a regulatory system called sistema de regulação assistencial (GERCON). The aim of this study is to describe the clinical and sociodemographic characteristics of users referred to a Child and Adolescent Psychosocial Care Center (Centro de Atenção Psicossocial Infantojuvenil [CAPSi]) in the first two years of GERCON. Methods: This is a cross-sectional study. Data were retrieved from electronic medical records of children and adolescents referred for their first consultation at a CAPSi in Porto Alegre, capital of the state of Rio Grande do Sul, from May 2019 to April 2021. Results: Most of the 134 users were male (59.8%), self declared white (69.7%), from Porto Alegre (87,9%) and with an initial diagnostic hypothesis of Mental retardation (28,9%), Behavioral and emotional disorders with onset usually occurring in childhood and adolescence (24,2%) e Mood disorders (20,3%). The mean age was 13.4 years and the median was 15 years. The rate of absenteeism in the first appointment was 24.7%. Conclusion: Most users referred to the CAPSi HCPA were male, teenagers, born in Porto Alegre and with the initial diagnostic hypothesis of neurodevelopmental disorders. There is a high rate of absenteeism. When planning interventions for children and adolescents who need CAPSi care, it is important to consider the nosological profile and sociodemographic characteristics, as well as thinking about strategies to reduce absenteeism.

Psicólogas(os) no sistema educacional de Boa Vista/Roraima: concepções, práticas e desafios / Psychologists in the educational system of Boa Vista/Roraima: conceptions, practices and challenges / Psicólogas(os) en el sistema educativo de Boa Vista/Roraima: concepciones, prácticas y retos

O objeto de estudo deste trabalho é a atuação de psicólogas(os) no campo da educação básica. Tivemos como objetivo investigar as práticas de atuação e os desafios enfrentados pelas(os) psicólogas(os) que trabalham na educação em Boa Vista (RR), com intuito de conhecer a inserção desses profissionais no sistema educacional. Trata-se de pesquisa qualitativa, orientada pelo referencial teórico-metodológico da Psicologia Escolar Crítica. Realizamos o processo de levantamento dos dados entre os meses de março e abril de 2018, por meio de entrevistas semiestruturadas, audiogravadas e transcritas. Encontramos 21 psicólogas e um psicólogo trabalhando em instituições educacionais e de ensino na cidade; a maioria atuava na educação básica; metade dos entrevistados ingressou por concurso público e a outra metade era contratada e comissionada; poucos(as) foram contratados(as) como psicólogos(as) escolares. Para a análise, selecionamos dez psicólogas(os) com mais tempo no cargo. Quanto às práticas de atuação, identificamos que 60% atuavam na modalidade clínica e 40% na modalidade clínica e institucional. Como desafios, encontramos melhoria das condições de trabalho; estabelecimento de relações hierárquicas e a dificuldade de fazer compreender as especificidades desse campo de trabalho; necessidade na melhoria das condições para formação continuada; atuação da(o) psicóloga(o) escolar enquanto ação institucional. Diante do exposto, compreendemos ser necessária uma mudança de paradigma na atuação das(os) psicólogas(os) que trabalham na educação na região, e a apropriação das discussões da área, principalmente, aquelas apresentadas pela Psicologia Escolar Crítica, vez que esta contribui para uma atuação que leve em conta os determinantes sociais, políticos, culturais e pedagógicos que constituem o processo de escolarização.(AU)

This work has as object of study the role of psychologists in the field of Basic Education. We aimed to investigate practices and challenges faced by psychologists who work in education in Boa Vista/RR, to know the insertion of these professionals in the educational system. This is a qualitative research, guided by the theoretical-methodological framework of Critical School Psychology. The data collection process was carried out between March and April 2018, with semi-structured, audio-recorded, and transcribed interviews. We found 21 female psychologists and one male psychologist working in educational institutions in the municipality; most worked in Basic Education; half of the interviewees had applied to work as government employee and the other half were hired and commissioned; few were hired as school psychologists. To carry out the analysis, we selected ten psychologists with more time in the position. Regarding the practices, we have identified that 60% worked in the clinical modality and 40% in the clinical and institutional modality. As challenges, we find the improvement in working conditions; the establishment of hierarchical relationships and the difficulty of making the specificities of this field of work understood; the need to improve conditions for continuing education; the practice of the school psychologist as institutional action. In view of the above, we understand that a paradigm shift in the performance of psychologists working in education in that region is necessary, and the appropriation of discussions in the area, especially those presented by Critical School Psychology, contributes to an action that considers social, political, cultural, and pedagogical determinants that constitute the schooling process.(AU)

Este trabajo tiene como objeto de estudio la actuación profesional de las(os) psicólogas(os) en la educación básica. Su objetivo es investigar las prácticas y retos que enfrentan las(os) psicólogas(os) que trabajan en la educación en Boa Vista, en Roraima (Brasil), con la intención de conocer la inserción de estos profesionales en el sistema educativo. Esta es una investigación cualitativa que se guía por el marco teórico-metodológico de la Psicología Escolar Crítica. Se recopilaron los datos entre los meses de marzo y abril de 2018, mediante entrevistas semiestructuradas, grabadas en audio y después transcritas. Las 21 psicólogas y un psicólogo trabajan en instituciones educativas de la ciudad; la mayoría trabajaba en la educación básica; la mitad de los entrevistados ingresaron mediante concurso público y la otra mitad era contratada y de puesto comisionado; pocos fueron contratados como psicólogos escolares. Para el análisis, se seleccionaron diez psicólogas(os) con más tiempo en el cargo. Con respecto a las prácticas, el 60% trabajaba en la modalidad clínica; y el 40%, en la modalidad clínica e institucional. Los retos son mejora de las condiciones laborales; establecimiento de relaciones jerárquicas y dificultad para comprender las especificidades de este campo de trabajo; necesidad de mejorar las condiciones para la educación continua; y actuación dela (del) psicóloga(o) escolar como acción institucional. En vista de lo anterior, es necesario el cambio de paradigma en la práctica profesional de las(os) psicólogas(os) que trabajan en la educación de la región y la apropiación de las discusiones del área, especialmente las presentadas por la Psicología Escolar Crítica, que contribuye a una acción que tiene en cuenta los determinantes sociales, políticos, culturales y pedagógicos que constituyen el proceso de escolarización.(AU)

Detección precoz de desviaciones y promoción de las habilidades sociales del lactante con la escala ADBB durante el seguimiento pediátrico: experiencia en un centro de salud pública de alta vulnerabilidad social / Early detection of deviations and promotion of infant social skills using the ADBB scale during pediatric follow-up: experience at a public health center of high social vulnerability / Detecção precoce de desvios e promoção de habilidades sociais infantis utilizando a escala ADBB durante o acompanhamento pediátrico: experiência num centro público de saúde de alta vulnerabilidade social

Introducción: el retraimiento del lactante es un signo de riesgo de desviaciones en el desarrollo y la salud mental infantil asociado a perturbaciones sostenidas en la interacción padres-bebé. Para este estudio se amplió la formación de un grupo de pediatras, médicos de familia y otros profesionales del primer nivel de un centro de salud de una zona de alta vulnerabildad social en una perspectiva interdisciplinaria del impacto de las interacciones tempranas en el neurodesarrollo y en la salud psicoemocional de los primeros años de vida, junto con la aplicación de un instrumento validado internacionalmente para la detección de retraimiento (escala ADBB, Alarme Détresse Bébé, Guedeney 2001) y estrategias para promover las habilidades sociales del lactante durante el control pediátrico. Objetivo: el estudio fue para evaluar el efecto de este abordaje en el seguimiento pediátrico de un grupo de lactantes a través de la detección de retraimiento y en comparación con otro grupo atendido en el mismo centro de salud sin el abordaje propuesto. Material y métodos: se realizó la detección de retraimiento con ADBB a 101 lactantes de 2 a 11 meses filmados en controles pediátricos durante 2016-2017 en un centro de salud pública de Montevideo. De total, 58 tuvieron seguimiento pediátrico con cuatro pediatras y una médica de familia con el abordaje propuesto y fueron evaluados con ADBB en dos tiempos, entre los 2 y 5 meses y entre los 8 y 11 meses de edad. Los 43 restantes acudieron al control pediátrico habitual en el centro de salud y fueron evaluados con ADBB entre los 8 y 11 meses. Todos los lactantes fueron evaluados con ADBB por expertos independientes. Resultados: de los 58 lactantes atendidos con el abordaje propuesto, 22% presentó retraimiento entre los 2 y 5 meses, y 14% entre los 8 y 11 meses. En el grupo atendido en los controles pediátricos regulares sin el abordaje propuesto, se detectó 53% de retraimiento entre los 8 y 11 meses de edad (p <0,001). Conclusiones: La detección precoz de retraimiento junto con estrategias para la promoción de las habilidades sociales del lactante durante el segui- miento pediátrico podría favorecer una perspectiva más integral y preventiva de la salud, incidiendo en el cuidado del neurodesarrollo y de la salud mental infantil desde el primer nivel.

Introduction: infant withdrawal is a sign of risk for deviations in child development and mental health associated with sustained disturbances in parent-infant interaction. For this study, a group of pediatricians, family doctors and other professionals of the Primary Care Level of a health center in an area of high social vulnerability was trained including an interdisciplinary perspective regarding the impact of early interactions on the neurodevelopment and psychological and emotional health of the first years of life. Similarly, we applied an internationally validated instrument for the detection of withdrawal (ADBB scale, Alarme Détresse Bébé, Guedeney 2001) and strategies to promote infant social skills during the pediatric check-ups. Objective: the study was to evaluate the effect of this approach in the pediatric follow-up of a group of infants through the detection of withdrawal and to compare it with another group assisted in the same center that did not receive the same approach. Material and methods: withdrawal with ADBB was detected in 101 infants aged 2 to 11 months filmed in pediatric controls during 2016-2017 in a public health center in Montevideo. In total, 58 had pediatric follow-up with four pediatricians and one family physician using the approach proposed in this study and were evaluated with ADBB in two stages, between 2 and 5 months and between 8 and 11 months of age. The remaining 43 attended the usual pediatric control at the health center and were evaluated with ADBB between 8 and 11 months. All infants were evaluated with ADBB by independent experts. Results: of the 58 infants treated with the approach proposed in this study, 22% presented withdrawal between 2 and 5 months, and 14% between 8 and 11 months. In the group attended in regular pediatric check-ups without using the proposed approach, 53% of withdrawal was detected between 8 and 11 months of age (p <0.001). Conclusions: the early detection of withdrawal to gether with strategies for the promotion of infant social skills during pediatric follow-up could favor a more comprehensive and preventive health perspective and enable practitioners to focus on the children neurodevelopmental and mental health from primary care assistance.

Introduccion: a abstinencia infantil é um sinal de risco para os desvios no desenvolvimento infantil e na saúde mental associados a distúrbios sustenta- dos na interação pais-bebê. Para este estudo, expandiuse a formação de um grupo de pediatras, médicos de família e outros profissionais do primeiro nível de um centro de saúde numa área de alta vulnerabilidade social, utilizando uma perspectiva interdisciplinar do impacto das interações precoces no neurodesenvolvimento e na saúde psicoemocional dos primeiros anos de vida, juntamente com a aplicação de um instrumento validado internacio- nalmente para a detecção de abstinência (escala ADBB, Alarme Détresse Bébé, Guedeney 2001) e estratégias para promover habilidades sociais infan- tis durante o controle pediátrico. Objetivo: do estudo foi avaliar o efeito dessa abordagem no acompanhamento pediátrico de um grupo de lactentes por meio da detecção de abstinência e comparálo com outro grupo atendido no mesmo centro de saúde, más sem utilizar a abordagem proposta. Material e Métodos: a abstinência com ADBB foi detectada em 101 lactentes com idades entre 2 e 11 meses filmados em controles pediátricos durante 2016-2017 num Centro de Saúde Pública em Montevidéu. No total, 58 tiveram acompanhamento pediátrico com quatro pediatras e um médico de família e receberam a abordagem proposta e foram avaliados com o ADBB em dois estágios, entre 2 e 5 meses e entre 8 e 11 meses de idade. Os 43 restantes compareceram ao controle pediátrico habitual no centro de saúde e foram avaliados com ADBB entre 8 e 11 meses. Todos os lactentes foram avaliados com o ADBB por especialistas independentes. Resultados: dos 58 lactentes tratados com a abordagem proposta, 22% apresentaram abstinência entre 2 e 5 meses e 14% entre 8 e 11 meses. No grupo atendido em check-ups pediátricos regulares sem a abordagem proposta, 53% de desistência (retraimiento) foi detectada entre 8 e 11 meses de idade (p <0,001). Conclusões: a detecção precoce da abstinência, aliada a estratégias de promoção de habilidades sociais infantis durante o acompanhamento pediá- trico, poderia favorecer uma perspectiva de saúde mais abrangente e preventiva, com foco no cuidado do neurodesenvolvimento e da saúde mental infantil desde o primeiro nível de saúde.

Atuação da psicologia em unidade neonatal no contexto da pandemia da covid-19 / The work of psychology in a neonatal unit in the covid-19 pandemic / Actuación de la psicología en una unidad neonatal en el contexto de la pandemia de la covid-19

A pandemia de covid-19 provocou intensas mudanças no contexto do cuidado neonatal, exigindo dos profissionais de saúde a reformulação de práticas e o desenvolvimento de novas estratégias para a manutenção da atenção integral e humanizada ao recém-nascido. O objetivo deste artigo é relatar a atuação da Psicologia nas Unidades Neonatais de um hospital público de Fortaleza (CE), Brasil, durante o período de distanciamento físico da pandemia de covid-19. Trata-se de estudo descritivo, do tipo relato de experiência, que ocorreu no período de março a agosto de 2020. No contexto pandêmico, o serviço de Psicologia desenvolveu novas condutas assistenciais para atender às demandas emergentes do momento, como: atendimento remoto; registro e envio on-line de imagens do recém-nascido a seus familiares; visitas virtuais; e reprodução de mensagens de áudio da família para o neonato. Apesar dos desafios encontrados, as ações contribuíram para a manutenção do cuidado centrado no recém-nascido e sua família, o que demonstra a potencialidade do fazer psicológico.(AU)

The COVID-19 pandemic brought intense changes to neonatal care and required health professionals to reformulate practices and develop new strategies to ensure comprehensive and humanized care for newborn. This study aims to report the experience of the Psychology Service in the Neonatal Units of a public hospital in Fortaleza, in the state of Ceará, Brazil, during the social distancing period of the COVID-19 pandemic. This descriptive experience report study was conducted from March to August 2020. During the pandemic, the Psychology Service developed new care practices to meet the emerging demands of that moment, such as remote care, recordings and online submission of newborns' pictures and video images for their family, virtual tours, and reproduction of family audio messages for the newborns. Despite the challenges, the actions contributed to the maintenance of a care that is centered on the newborns and their families, which shows the potential of psychological practices.(AU)

La pandemia de la COVID-19 ha traído cambios intensos en el contexto de la atención neonatal, que requieren de los profesionales de la salud una reformulación de sus prácticas y el desarrollo de nuevas estrategias para asegurar una atención integral y humanizada al recién nacido. El objetivo de este artículo es reportar la experiencia del Servicio de Psicología en las Unidades Neonatales de un hospital público de Fortaleza, en Ceará, Brasil, durante el periodo de distanciamiento físico en la pandemia de la COVID-19. Se trata de un estudio descriptivo, un reporte de experiencia, que se llevó a cabo de marzo a agosto de 2020. En el contexto pandémico, el servicio de Psicología desarrolló nuevas conductas asistenciales para atender a las demandas emergentes del momento, tales como: atención remota; grabación y envío em línea de imágenes del recién nacido; visitas virtuales; y reproducción de mensajes de audio de la familia para el recién nacido. A pesar de los desafíos encontrados, las acciones contribuyeron al mantenimiento de la atención centrada en el recién nacido y su familia, lo que demuestra el potencial de la práctica psicológica.(AU)

Formação em análise do comportamento no contexto da educação especial: variáveis pessoais e atitudinais relacionadas à inclusão / Training in behavior analysis in the context of special education: personal and attitudinal variables related to inclusion / Formación en análisis de conducta en el contexto de la educación especial: variables personales y actitudinales relacionadas con la inclusión

A inclusão educacional de estudantes com autismo e/ou deficiência intelectual no ensino regular, em classe comum, evidencia a urgência de programas de formação docente em práticas educacionais baseadas em evidências. O objetivo foi avaliar a estrutura de um processo formativo remoto para elaboração, aplicação e avaliação de uma intervenção comportamental na perspectiva educacional inclusiva e, mais especificamente, caracterizar as atitudes sociais de agentes educacionais participantes da formação. A formação ocorreu em dois formatos. No primeiro, todo o material foi disponibilizado em uma pasta virtual compartilhada e, no segundo, em um Ambiente Virtual de Aprendizagem (AVA). Nos dois formatos, a estrutura contou com parte teórica e prática, por meio de leitura de textos, realização de exercícios e discussões. Na parte prática, participantes tiveram a oportunidade de trabalhar com famílias e estudantes (crianças e jovens) com autismo e/ou deficiência intelectual visando identificar as necessidades e prioridades da família para elaboração colaborativa de um plano de intervenção (sistematização de práticas), implementação e análise das práticas. Para a caracterização da amostra foram levantadas informações pessoais, experiências prévias, familiaridade com ferramentas tecnológicas, conhecimento sobre os conceitos teóricos da Análise do Comportamento. Foi feita uma caracterização das atitudes sociais em relação à inclusão e analisada a validade social de participantes sobre a formação. Os resultados da formação identificaram correlações entre o nível de atitudes sociais e o engajamento nas atividades práticas entregues, além da relação entre o número de participantes que concluíram a formação, o cumprimento de tarefas e dificuldades de contato com a família. O estudo discutiu sobre estratégias que tenham em vista possibilidades de escalabilidade da formação docente de maneira sistemática e científica nesta área de atuação profissional.(AU)

The educational inclusion of students with autism and/or intellectual disabilities in regular education has highlighted the urgency of initial and continuing education programs with evidence-based educational practices. The objective was to evaluate the structure of a remote training process for the elaboration, application and evaluation of a behavioral intervention in the inclusive educational perspective and, complementarily, a specific objective was to characterize the social attitudes of educational agents participating in the training. The training took place in two formats. In the first, all material was made available in a shared folder and in the second, in a Virtual Learning Environment (VLE). In both formats, the structure had a theoretical and practical part, by reading and carrying out exercises and discussions. In the practical part, participants had the opportunity to work with families and students with autism and/or intellectual disability to identify the needs and priorities of the family for the collaborative elaboration of an intervention plan (systematization of practices), implementation and analysis of practices. For the characterization of the sample, personal information, previous experiences, familiarity with technological tools, and knowledge about the theoretical concepts of Behavior Analysis were collected. A characterization of social attitudes towards inclusion was carried out and the social validity of participants regarding training was analyzed. The results of the training identified correlations between the level of social attitudes and engagement in the practical activities delivered, in addition to the relationship between the drop in the number of participants, the fulfillment of tasks and difficulties in contacting the family. The study discussed strategies that aim at possibilities of scaling continuing education in a systematic and scientific way in this area of professional activity.(AU)

La inclusión educativa de estudiantes con autismo y/o discapacidad intelectual en la educación regular, en aulas regulares, ha puesto de relieve la urgencia de programas de educación inicial y continua en prácticas educativas basadas en evidencia. El objetivo de este estudio fue evaluar la estructura de un proceso de formación a distancia para la elaboración, aplicación y evaluación de una intervención conductual en la perspectiva educativa inclusiva y, de forma complementaria, el objetivo específico fue caracterizar las actitudes sociales de los agentes educativos participantes en la formación. La capacitación se llevó a cabo en dos formatos. En el primer, todo el material estaba disponible en una carpeta compartida y, en el segundo, en un entorno virtual de aprendizaje (EVA). En los dos formatos, la estructura tuvo una parte teórica y práctica, mediante la lectura de textos, la realización de ejercicios y discusiones. En la parte práctica, los participantes tuvieron la oportunidad de trabajar con las familias y los alumnos con autismo y/o discapacidad intelectual con el fin de identificar las necesidades y prioridades de la familia para la elaboración colaborativa de un plan de intervención (sistematización de prácticas), su implementación y el análisis de prácticas. Para la caracterización de la muestra, se planteó información personal, experiencias previas, familiaridad con herramientas tecnológicas, conocimiento sobre los conceptos teóricos del análisis de comportamiento. Se realizó una caracterización de las actitudes sociales hacia la inclusión y se analizó la validez social de los participantes respecto a la formación. Los resultados de la capacitación identificaron correlaciones entre el nivel de actitudes sociales y el compromiso en las actividades prácticas impartidas, además de la relación entre la disminución del número de participantes, el cumplimiento de las tareas y las dificultades de contacto con la familia. Este estudio discutió estrategias que apuntan a posibilidades de escalar la formación docente de forma sistemática y científica en esta área de actuación profesional.(AU)

Tecnologías para la Evaluación, Diagnóstico y Tratamiento del Trastorno por Déficit de Atención e Hiperactividad: Una Revisión Preliminar e Integradora / Technologies for the Evaluation, Diagnosis and Treatment of Attention Deficit Hyperactivity Disorder: A Preliminary and Integrative Review

El trastorno por déficit de atención e hiperactividad (TDAH) es uno de los trastornos del neurodesarrollo con más alta prevalencia, estimada en 5%, en la población infantil. El objetivo de esta revisión fue sintetizar las tecnologías existentes que sirven para evaluar, diagnosticar y tratar síntomas de TDAH en población pediátrica. Esta es una revisión preliminar, de tipo integradora, que incluyó artículos publicados en 3 bases de datos especializadas, PsycINFO, Eric y Web of Science, entre los años 2005 y 2021. Se encontró que las pruebas diagnósticas clásicas se dividen en pruebas psicométricas, evaluación por biomarcadores y movimientos oculares. Por su parte, las pruebas que utilizan la tecnología son aquellas a evaluación y diagnóstico (DIDE, MOXO, AULA, AQUIARUM y BRAINGAZE) y aquellas que se utilizan en la terapéutica (SINCROLAB, PSIOUS, SISTEMA eTNS y varias basadas en neurofeedback). Las modernas tecnologías ofrecen cierto porcentaje de sensibilidad con baja inversión, tampoco requieren de equipos costosos y la preparación del profesional psicólogo o médico para su aplicación, es relativamente sencilla y accesible, ya que viene como complemento en la compra de la mayoría de los programas. Con el fin de continuar examinando su efectividad, se recomienda seguir evaluando estas herramientas con metodologías más robustas, en poblaciones clínicas grandes, debiendo ser esto una prioridad para futuras investigaciones.

Attention deficit hyperactivity disorder (ADHD) is one of the neurodevelopmental disorders with the highest prevalence, estimated at 5%, in the pediatric population. The objective of this review was to synthesize the existing technologies used to evaluate, diagnose, and treat ADHD symptoms in the pediatric population. This is a preliminary, integrative review, which included articles published in 3 specialized databases, PsycINFO, Eric and Web of Science, between 2005 and 2021. It was found that classical diagnostic tests are divided into psychometric tests, biomarker assessment and eye movements. On the other hand, the tests that use technology are those for evaluation and diagnosis (DIDE, MOXO, AULA, AQUIARUM and BRAINGAZE) and those used in therapy (SINCROLAB, PSIOUS, SISTEMA eTNS and several based-on neurofeedback). The modern technologies offer a certain percentage of sensitivity with low investment, they do not require expensive equipment and the preparation of the psychologist or medical professional for their application is relatively simple and accessible, since it comes as a complement in the purchase of most of the programs. To continue examining their effectiveness, it is recommended to continue assessing these tools with more robust methodologies, in large clinical populations, and this should be a priority for future research.

Genetic analysis of a child with early onset neurodevelopmental disorder with involuntary movement and a literature review / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic basis of a child with early onset neurodevelopmental disorder with involuntary movement (NEDIM).@*METHODS@#A child who presented at Department of Neurology of Hunan Children's Hospital on October 8, 2020 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Whole exome sequencing (WES) was carried out for the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. Relevant literature was searched from the CNKI, PubMed and Google Scholar databases to summarize the clinical phenotypes and genetic variants of the patients.@*RESULTS@#This child was a 3-year-and-3-month boy with involuntary trembling of limbs and motor and language delay. WES revealed that the child has harbored a c.626G>A (p.Arg209His) variant of the GNAO1 gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. The variant had been reported in HGMD and ClinVar databases, but not in the dbSNP, ExAC and 1000 Genomes databases. Prediction with SIFT, PolyPhen-2, and Mutation Taster online software suggested that the variant may be deleterious to the protein function. By UniProt database analysis, the encode amino acid is highly conserved among various species. Prediction with Modeller and PyMOL software indicated that the variant may affect the function of GαO protein. Based on the guideline of the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic.@*CONCLUSION@#The GNAO1 gene c.626G>A (p.Arg209His) variant probably underlay the NEDIM in this child. Above finding has expanded the phenotypic spectrum of GNAO1 gene c.626G>A (p.Arg209His) variant and provided a reference for clinical diagnosis and genetic counseling.

Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume / 中华医学杂志(英文版)

BACKGROUND@#Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV).@*METHODS@#We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.@*RESULTS@#We recruited a total of 253 NDD patients. Among them, 26 had significantly decreased WBDV (<-2 standard deviations [SDs]), and 14 had significantly increased WBDV (>+2 SDs). NDD patients with significant WBDV had higher rates of motor development delay (49.8% [106/213] vs . 75.0% [30/40], P  = 0.003) than patients without significant WBDV. Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV. Analyses of the literature further demonstrated that these genes were not randomly identified: burden genes were more related to the brain development than background genes ( P  = 1.656e -9 ). In seven human brain regions related to motor development, we observed burden genes had higher expression before 37-week gestational age than postnatal stages. Functional analyses found that burden genes were enriched in embryonic brain development, with positive regulation of synaptic growth at the neuromuscular junction, positive regulation of deoxyribonucleic acid templated transcription, and response to hormone, and these genes were shown to be expressed in neural progenitors. Based on single cell sequencing analyses, we found TUBB2B gene had elevated expression levels in neural progenitor cells, interneuron, and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.@*CONCLUSION@#Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay, which could be explained by the genetic differences characterized herein.

Recent research on neurodevelopmental disorders in children / 中国当代儿科杂志

Neurodevelopmental disorders (NDDs) in children are a group of chronic developmental brain disorders caused by multiple genetic or acquired causes, including disorders of intellectual development, developmental speech or language disorders, autism spectrum disorders, developmental learning disorders, attention deficit hyperactivity disorder, tic disorders, and other neurodevelopmental disorders. With the improvement in the research level and the diagnosis and treatment techniques of NDDs, great progress has been made in the research on NDDs in children. This article reviews the research advances in NDDs, in order to further improve the breadth and depth of the understanding of NDDs in children among pediatricians.

Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).@*METHODS@#A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child was found to harbor a heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene, for which both of her parents were of wild type. The variant was predicted as pathogenic based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#The heterozygous c.820_828delinsCTTCA (p.Thr274Leufs*121) variant of the NOVA2 gene probably underlay the disease in this child. Above finding has enriched the spectrum of NOVA2 gene variants and provided a basis for genetic counseling and prenatal diagnosis for this family.