¿Qué puede esconder el retraso global del desarrollo? A propósito de un caso de causa genética / What can Global Developmental Delay Conceal? Apropos of a Case with a Genetic Cause

Se presenta un niño de 6 años con antecedente de retraso del lenguaje que llevó a sus padres a realizar múltiples consultas. En un primer momento, su cuadro fue interpretado como parte de un retraso global del desarrollo. Posteriormente, el paciente presentó convulsiones y episodios de descompensación metabólica, comenzando desde entonces su seguimiento por los Servicios de neurología, genética y metabolismo. Finalmente, tras varios estudios complementarios, por medio de un exoma trío se arribó al diagnóstico de síndrome de microduplicación del cromosoma 7q11.23, lo que justifica tanto el retraso global de desarrollo del paciente como su clínica neurológica. (AU)

A six-year-old boy presents with a history of language delay that led his parents to make multiple consultations. At first, we interpreted his condition as part of a global developmental delay. Subsequently, the patient presented seizures and episodes of metabolic decompensation, and since then, he had to be followed up by neurology, genetics, and metabolism services. Finally, after several complementary studies, following a trio exome analysis, we diagnosed chromosome 7q11.23 microduplication syndrome, which explains his global developmental delay and neurological symptoms. (AU)

Necesidad de rehabilitación física en un paciente con distrofia muscular progresiva de Duchenne / Necessity of physical rehabilitation in a patient with Duchenne progressive muscular dystrophy

Se presenta el caso clínico de un adolescente de 18 años de edad, atendido en el Policlínico Docente Armando García Aspurú de Santiago de Cuba por presentar antecedentes de retardo en el desarrollo psicomotor, marcha anadeante, caídas frecuentes, signo de Gowers positivo, fuerza muscular proximal disminuida en miembros superiores e inferiores, pseudohipertrofia de los gemelos, atrofia de cuádriceps pectoral y escapular. Los signos y síntomas clínicos permitieron diagnosticar una distrofia muscular de Duchenne. Como no pudo realizarse el tratamiento rehabilitador necesario, se produjo un deterioro músculo - esquelético progresivo y severo del paciente.

The case report of an 18 years adolescent is presented. He was assisted at Armando García Aspurú Teaching Polyclinic in Santiago de Cuba due to a history of psychomotor development retardation, wandering march, frequent falls, positive Gowers sign, diminished proximal muscular force in upper and lower limbs, twins pseudohypertrophy, atrophy of pectoralis and scapular quadriceps. The clinical signs and symptoms allowed to diagnose a Duchenne muscular dystrophy. As the necessary rehabilitative treatment could not be carried out, a progressive and severe musculoskeletal deterioration of the patient took place.

Vivências de enfermeiros na consulta de puericultura: percepção sobre os sinais de risco/atraso para o des-envolvimento infantil / Nurses' experiences in childcare consultation: perception of the risk/delay for child development / Experiencias de enfermeras en consulta de puericultura: percepción de los signos de riesgo/retraso para el desarrollo infantil

Introdução: A infância é um período da vida de grande transformação física, psíquica e social e como forma de prevenir enfermidades e promover o desenvolvimento saudável das crianças, as políticas de saúde vigentes no Brasil, estabelecem um acompanhamento longitudinal e com foco na atenção integral através da puericultura. Objetivo: Compreender a percepção e a prática do enfermeiro sobre a identificação dos sinais de risco/atraso do desenvolvimento em crianças acompanhadas durante a consulta de enfermagem em puericultura. Métodos: Estudo qualitativo, realizado com 12 enfermeiros que trabalham nas unidades de saúde da família de um distrito sanitário da cidade do Recife, entre janeiro e março de 2017. Para a coleta de dados foi empregada entrevista individual semiestruturada com o uso da gravação, sendo os mesmos submetidos à análise de conteúdo na modalidade temática. Resultados: A maioria das enfermeiras conhecia e utilizava a ficha de acompanhamento do desenvolvimento infantil proposta pelo Ministério da Saúde (MS) e inserida na caderneta da criança durante a consulta de puericultura, entretanto, a linguagem utilizada para definir os sinais de risco e atraso não é precisa. Porém, quando identificam alguma alteração no Crescimento e Desenvolvimento (CD) recorrem a equipe multiprofissional para acompanhamento dos casos. Considerações finais: O estudo permitiu perceber e discutir a importância da avaliação do desenvolvimento neuropsicomotor, destacando a enfermeira como agente essencial desse processo. Ficou demonstrado na prática das enfermeiras o conhecimento dos protocolos para o acompanhamento do CD, porém destacou-se que a falta de cumprimento e registro dos parâmetros/indica-dores de avaliação orientados pelo MS foi um fato dificultador para uma assistência integral, sem deixar de enxergar a família como aliada no cuidado à criança.

Introduction: Childhood is a period of life of great physical, psychological and social transformation and as a way to prevent diseases and promote the healthy development of children, the health policies in force in Brazil, establish a longitudinal monitoring and focusing on comprehensive care through childcare. Objective: Understand the nurse's perception and practice on the identification of signs of risk / delay in development in children monitored during the nursing consultation in childcare. Methods: Qualitative study, conducted with 12 nurses who work in family health units in a health district in the city of Recife, between January and March 2017. For data collection, a semi-structured individual interview was used with the use of the recording, the same being analyzed by the thematic content analysis. Results: Most nurses knew and used the child development monitoring form proposed by the Ministry of Health (MH) and inserted in the child's handbook during the pediatric consultation, however, the language used to defi ne the signs of risk and delay is not accurate. Yet, when they identify any change in Growth and Development (GD), they use the multidisciplinary team to monitor the cases. Conclusions: The study made it possible to perceive and discuss the importance of assessing neuropsychomotor development, highlighting the nurse as an essential agent of this process. It was demonstrated in the nurses' practice the knowledge of the protocols for the monitoring of the GD, however it was highlighted that the lack of compliance and registration of the parameters/evaluation indicators oriented by the MH was a hindering factor for comprehensive care, without fail to realize the family as an ally in child care.

Introducción: La infancia es un período de vida de gran transformación física, psicológica y social y, como una forma de prevenir enfermedades y promover el desarrollo saludable de los niños, las políticas de salud vigentes en Brasil establecen un monitoreo longitudinal y se centran en la atención integral a través de la puericultura. Objetivo: Comprender la percepción y práctica de la enfermera sobre la identificación de signos de riesgo/retraso en el desarrollo en niños monitoreados durante la consulta de enfermería en la puericultura. Métodos: Estudio cualitativo, realizado con 12 enfermeras que trabajan en unidades de salud familiar en un distrito de salud de la ciudad de Recife, entre enero y marzo de 2017. Para la recopilación de datos, se utilizó una entrevista individual semiestructurada con el uso de la grabación, siendo el mismo sometidos al análisis del contenido en la modalidad temática analizado por el método de interpretación de los sentidos. Resultados: La mayoría de las enfermeras conocían y usaban el formulario de monitoreo del desarrollo infantil propuesto por el Ministerio de Salud (MS) e insertado en el manual del niño durante la consulta pediátrica, sin embargo, el lenguaje utilizado para definir los signos de riesgo y retraso no es exacto. Sin embargo, cuando identifican cualquier cambio en el Crecimiento y Desarrollo (CD), utilizan el equipo multidisciplinario para monitorear los casos. Consideraciones finales: El estudio permitió percibir y discutir la importancia de evaluar el desarrollo neuropsicomotor, destacando a la enfermera como un agente esencial de este proceso. Se demostró en la práctica de las enfermeras el conocimiento de los protocolos para el monitoreo de la CD, sin embargo, se destacó que la falta de cumplimiento y registro de los parámetros/indicadores de evaluación orientados por el MS era un factor que obstaculizaba la atención integral, si no se dan cuenta de la familia como aliada en el cuidado infantil.

Diagnóstico diferencial ante la sospecha de TEA / Differential diagnosis of suspected ASD

Ateneo de la Residencia de Psicopedagogía del Hospital General de Agudos Ramos Mejía, de la Ciudad de Buenos Aires, que describe las acciones realizadas por el Equipo del hospital, que forma parte de la red de centros públicos de salud que participan del Programa de Orientación Temprana y Concientización en Trastornos del Neurodesarrollo y en el Espectro Autista (PROTECTEA). Se detallan la conceptualización y características del Trastorno del Espectro Autista, su diagnóstico específico, y su diferenciación del diagnóstico de Trastorno del Lenguaje, y de la Comunicación Social.

Validación de un instrumento para la pesquisa de problemas del desarrollo en menores de 5 años en Uruguay / Validation of an instrument to screen for developmental problems in children younger than 5 years old in Uruguay / Validação de um instrumento para a pesquisa de problemas de desenvolvimento em menores de 5 anos no Uruguai

Resumen: Introducción: la detección temprana de problemas del desarrollo en niños permite aplicar intervenciones oportunas que mejoran el pronóstico y disminuyen la discapacidad. Esto requiere aplicar pruebas de pesquisas sensibles, sencillas y de bajo costo. Con este propósito, en Uruguay se desarrolló la Guía Nacional para la Vigilancia del desarrollo del Niño y la Niña menores de 5 años versión 2 (GNVD V2). Su utilización requiere conocer las propiedades psicométricas e índices fijos y variables. Objetivo: validación concurrente de la GNVD V2 frente al Inventario de Desarrollo Battelle 4ª edición. Método: se realizó un estudio transversal, observacional, en una muestra representativa de niños de 1 mes a 5 años de centros educativos de Montevideo. Se relacionaron los resultados de la aplicación de la GNVD V2 con los del Inventario de Desarrollo Battelle 4ª edición. Se calculó la sensibilidad, especificidad, valores predictivos positivo y negativo de la GNVD V2, según diferentes puntos de corte. Se estimó el beneficio clínico de su aplicación mediante las razones de verosimilitud o likelihood ratios. Se realizó análisis psicométrico. Resultados: la validación se realizó con 341 niños. No haber fallado en ninguna de las 12 conductas ubicadas a la izquierda de las cuatro áreas correspondientes a su edad presenta sensibilidad 77%, especificidad 65%, valor predictivo positivo 42% y valor predictivo negativo 89%. Con dicho punto de corte, el LR (+) es 2,2 y el LR (-) 0,35 y la probabilidad de presentar un trastorno cuando no pasa la prueba 1,6 y cuando la pasa 0,26. Conclusiones: la GNVD V2 posee propiedades psicométricas adecuadas e índices fijos similares a tests validados a nivel internacional que permiten recomendarlo como instrumento nacional de pesquisa.

Summary: Introduction: early detection of developmental problems in children enables the application of timely interventions that improve prognosis and reduce disabilities. To that end, the application of sensitive, simple and low-cost screening procedures is required, what led to the creation of the "National Guidelines for the Surveillance of Early Childhood Development (under 5 years old children)" (GNVD V2). Use of these guidelines relies on awareness of psychometric properties a well as fixed rates and variables. Objective: concurrent validation of GNVD V2 with Battelle Developmental Inventory, Fourth Edition. Method: we conducted a transversal, observational study in a representative sample of children between 1 month and 5 years old from different schools in Montevideo. Subsequently, results from the application of GNVD V2 were compared to the Battelle Developmental Inventory, Fourth Edition. Sensitivity, specificity and predictive positive and negative values of the GNVD V2 were calculated for the different cut-off points. The clinical benefit if its application was estimated by means of likelihood ratios. A psychometric analysis was performed. Results: validation was done with 341 children. No failure occurring in any of the behaviors to the left of the four areas corresponding to age represents 77% sensitivity, 65% specificity, 42% positive predictive value and 89% negative predictive value. Given such cut-off point, LR+ is 2.2 and LR- is 0.35, and the likelihood of there being a disorder when not passing the test is 1.6 and 0.26 when passing it. Conclusions: GNVD V2 has the right psychometric properties and fixed rates that are similar to globally validated tests that allow for it to be recommended as the national screening instrument.

Resumo: Introdução: a detecção precoce de problemas de desenvolvimento em crianças permite aplicar intervenções oportunas que melhoram o prognóstico e diminuem as deficiências. Para isso é necessário aplicar provas de pesquisa sensíveis, simples e de baixo custo. Com este propósito, desenvolveu-se no Uruguai a Guía Nacional para la Vigilancia del desarrollo del Niño y la Niña menores de 5 años Versión 2 (GNVD V2). Para utilizá-la é necessário conhecer as propriedades psicométricas e os índices fixos e variáveis. Objetivo: validação concorrente da GNVD V2 comparada com o Inventário de Desenvolvimento Battelle 4ª edição. Métodos: realizou-se um estudo transversal, observacional, em uma amostra representativa de crianças com idades entre 1 mês e 5 anos de centros educativos de Montevidéu. Os resultados da aplicação da GNVD V2 foram comparados com os do Inventário de Desenvolvimento Battelle 4ª edição. A sensibilidade, especificidade, valores preditivos positivos e negativos da GNVD V2 segundo diferentes pontos de corte foram calculados. O benefício clínico de sua aplicação mediante as razões de verossimilhança ou "likelihood ratio" (LR) foi estimado. Uma análise psicométrica foi realizada. Resultados: a validação foi realizada com 341 crianças. Não haver mostrado falhas em nenhuma das 12 condutas a esquerda das quatro áreas correspondentes à sua idade apresenta sensibilidade 77%, especificidade 65%, valor preditivo positivo 42% e valor preditivo negativo 89%. Com este ponto de corte, o LR (+) é 2.2 e o LR (-) 0.35 e a probabilidade de apresentar um transtorno quando não passa a prova 1.6 e quando passa 0.26. Conclusões: a GNVD V2 possui propriedades psicométricas adequadas e índices fixos similares a testes validados a nível internacional que permitem recomendá-lo como instrumento nacional de pesquisa.

Confiabilidad y validez de un cuestionario de desarrollo infantil en encuestas nacionales / Reliability and validity of a questionnaire of child development for national surveys

Resumen: Introducción: El tamizaje del desarrollo infantil en encuestas nacionales es un insumo para la formulación de po líticas públicas que contribuyan a su diagnóstico e intervención precoz, dirigidos a favorecer un de sarrollo integral y desempeño escolar exitoso hasta la adolescencia, no obstante, pocos países en La tinoamérica cuentan con esta información. Objetivo: Evaluar la confiabilidad y validez convergente de una adaptación cultural del Cuestionario de Tamizaje de Desarrollo Infantil para Encuestas en Hogares (DIEH) y describir la prevalencia de alteraciones en el desarrollo en niños de 2 meses a 5 años en Bucaramanga-Colombia. Sujetos y Método: Se realizó una evaluación de pruebas diagnósti cas. Participaron 224 niños de dos meses hasta los cinco años y sus padres o cuidadores procedentes de Bucaramanga - Colombia, entre julio y diciembre de 2016. La Escala Abreviada del Desarrollo (EAD) fue aplicada por fisioterapeutas entrenados y el DIEH, fue respondido por los padres o cui dadores. A partir del alpha de Cronbach, el Coeficiente de Correlación Intraclase (CCI) y los límites de acuerdo Bland y Altman se estableció la confiabilidad del DIEH; con el Coeficiente de Correlación de Spearman la validez convergente. Resultados: A partir del DIEH las prevalencias de rezagos y retrasos fueron 38.8% y 11.2% respectivamente; la consistencia interna osciló entre 0.23 y 0.76. La reproducibilidad registró CCI entre 0.60 y 0.92; la validez convergente fue casi perfecta (p: 0.96). Conclusiones: La adaptación cultural del DIEH mostró propiedades psicométricas aceptables, que podrían complementarse con estudios adicionales para recomendar su uso en encuestas nacionales en Latinoamérica.

Abstract Introduction: The child development screening in national surveys supports the formulation of public policies that contribute to its diagnosis and early intervention, aimed at promoting comprehensive development and successful school performance until adolescence, however, few countries in Latin America have this information. Objective: To assess the reliability and convergent validity of a cultural adaptation of the Screening Questionnaire of Child Development for Household Surveys (DIEH) and to des cribe the prevalence of developmental alterations in children aged between 2 months and 5 years in Bucaramanga-Colombia. Subjects and Method: Between July and December 2016, an evaluation of diagnostic tests was carried out in which participated 224 children aged between two months and five years and their parents or caregivers from Bucaramanga, Colombia. The Abbreviated Developmental Scale was applied by trained physiotherapists and the DIEH was answered by the parents or caregi vers. The reliability of the DIEH was established using the Cronbach's alpha, the Intraclass Correla tion Coefficient (ICC) and the Bland and Altman limits of agreement, and the convergent validity was established through the Spearman Correlation Coefficient. Results: Based on the DIEH, the pre valence of lags and delays was 38.8% and 11.2% respectively, internal consistency ranged from 0.23 to 0.76; reproducibility showed an ICC between 0.60 and 0.92; and the convergent validity was almost perfect (p: 0.96). Conclusion: The cultural adaptation of the DIEH showed acceptable psychometric properties, which could be complemented with additional studies to recommend its use in national surveys in Latin America.

Avaliação do conhecimento de Agentes Comunitários de Saúde sobre o conteúdo da Caderneta da Saúde da Criança / Assessment of the knowledge of Community Health Agents on the content of the Child Health Records

Objetivo: caracterizar o conhecimento dos agentes comunitários de saúde (ACS) sobre o conteúdo da Caderneta da Saúde da Criança (CSC) e identificar a capacidade de detectar atraso no Desenvolvimento Neuropsicomotor (DNPM) das crianças por meio da caderneta. Método: estudo transversal, realizado entre agosto de 2018 e novembro de 2019, em Recife, Pernambuco (PE). A amostra foi composta por 109 ACS de diferentes municípios de PE, que responderam, voluntariamente, a um questionário semiestruturado sobre a CSC. A análise estatística foi realizada pelo programa Statistical Package for the Social Sciences (SPSS) versão 20.0, com medida da razão de chances e intervalos de confiança, assumindo um erro de 5% (Odds Ratio - OR e IC 95%). Resultados: 88,1% (n=96) dos ACS eram do sexo feminino; 85,2% (n=92) pertenciam à Estratégia de Saúde da Família e 58,9% (n=63) tinham cobertura de equipe do Núcleo Ampliado da Saúde da Família e Atenção Básica. Informações sobre vacinação foi o item mais assinalado na CSC (99,1%). Quanto à avaliação do DNPM, 60,4% dos ACS relataram saber usar o instrumento de vigilância contido na CSC. Uma análise bivariada encontrou que o ACS que já tinha participado de algum treinamento sobre DNPM referiu sentir-se 6,75 vezes mais capaz de detectar atraso no DNPM. Conclusão: a utilização da CSC pelos ACS tem sido caracterizada, principalmente, para acompanhamento e registro de atividades de vacinação e de crescimento pôndero-estatural. A realização de treinamentos com esses trabalhadores pode ampliar sua qualificação para o acompanhamento do DNPM, fortalecendo a vigilância do desenvolvimento infantil.

Objective: To characterize the knowledge of community health agents (CHA) on the content of the Child Health Records (CHR) and to identify the ability to detect delays in the Neuropsychomotor Development (NPMD) of children through the handbook. Method: cross-sectional study, conducted between August 2018 and November 2019, in Recife, Pernambuco (PE). The sample consisted of 109 Community Health Agents from different cities of Pernambuco (PE) who voluntarily answered a semi-structured questionnaire about the information contained in the CHR. Statistical analysis was performed using the Statistical Package for Social Sciences (SPSS), version 20.0, and by measuring the odds ratio and confidence intervals, assuming a 5% error (OddsRatio - OR and 95% CI). Results: A total of 88,1% (n = 96) of the CHA were female, 85.2% (n = 92) belonged to the Family Health Strategy and 58,9% (n = 63) had team coverage from the Expanded Center of the Family Health and Primary Care. Vaccination information was the most highlighted item in the CHR (99,1%). As for the NPMD assessment, 60,4% of the CHA reported knowing how to use the surveillance instrument contained in the CHR. A bivariate analysis found that the CHA who had already participated in some NPMD training reported feeling 6,75 times more capable of detecting delay in the NPMD. Conclusion: The use of the CHR by the CHA has been characterized mainly for monitoring and recording activities of vaccination and statural weight growth. Conducting training with these workers can increase their qualification for monitoring the NPMD follow-up by strengthening surveillance of child development.

Trastorno del espectro alcohólico fetal: Un trastorno del neurodesarrollo infradiagnosticado y de pronóstico incierto / Fetal alcohol spectrum disorder. An underdiagnosed neuro-development disorder of uncertain prognosis

La exposición prenatal al alcohol es causa de alteraciones somáticas, cognitivas y conductuales que se agrupan bajo el término de trastorno del espectro alcohólico fetal (TEAF). La evolución a largo plazo de los sujetos afectados a menudo es desfavorable, especialmente a nivel académico y adaptativo social. En el perfil neuropsicológico es característica la disfunción ejecutiva a menudo asociada a trastornos de la conducta que evolucionan en muchos casos hacia la delincuencia a partir de la adolescencia y en la edad adulta. Se han descrito también déficits de las habilidades sociales y la empatía. La exposición prenatal al alcohol constituye la causa más frecuente de trastorno del neurodesarrollo adquirido y prevenible.

Prenatal exposure to alcohol is the cause of cognitive and behavioural disorders grouped under the term fetal alcohol spectrum disorders (FASD). The long-term evolution of subjects with FASD is often unfavourable, especially in social and academic fields. Executive dysfunction is a hallmark deficit for children with FASD with increased rates of externalizing behaviours, such as aggressiveness and frequently delinquency in adolescence and adulthood. Deficits in social skills, empathy and communication ability are frequent observed among FASD. Prenatal exposure to alcohol is the most frequent cause of acquired and preventable neurodevelopmental disorder.

Variação de número de cópias no cromossomo 4: uma possível síndrome genética? / Number copies variation in chromosome 4: a possible genetic syndrome?

INTRODUÇÃO: Variantes de número de cópias (CNVs) são variações no número de cópias de uma região da sequência genômica, descrevendo deleções ou ganhos em relação a indivíduos controle. Podem ser comuns e de caráter benigno, de significado incerto ou variantes patogênicas. Para interpretação, classificação e avaliação de significado clínico, é realizado comparação dos resultados nas bases de dados do laboratório e análise da literatura científica. OBJETIVO: Relatar caso de adolescente com duplicação/triplicação no cromossomo 4 com déficit cognitivo e dismorfismo facial e discutir se essa CNV pode ser responsável pelos achados clínicos. RELATO DE CASO: Paciente de 15 anos, sexo feminino, levada ao ambulatório de Genética para investigação de possível síndrome genética. Pais consanguíneos (primos). Desde a infância apresenta estrabismo divergente, atraso no desenvolvimento neuropsicomotor com dificuldade de fala. Cursou com síndrome hipotônica com espasmos mioclônicos. Evoluiu com déficit cognitivo. A Ressonância magnética de encéfalo demonstrou comprometimento de hemisférios cerebelares e atrofia de ponte e mesencéfalo. Cariótipo normal (46, XX) e hibridização genômica comparativa baseada em microarranjos (a-CGH) revelou duplicação/ triplicação na região 4p 15.32p15.31, variante de significado incerto. CONCLUSÃO: Destaca-se a importância da investigação através de análises cromossômicas por microarranjos em pacientes com deficiência intelectual, síndrome do espectro do autismo e múltiplas malformações congênitas - isto para aprimoramento diagnóstico, cuidados médicos específicos e aconselhamento genético.

INTRODUCTION: Copy number variants (CNVs) are variations in the number of copies of a region of the genomic sequence, describing deletions or gains in relation to control individuals. They may be common and of benign nature, of uncertain meaning or pathogenic variants. For interpretation, classification and evaluation of clinical significance, a comparison of the results in the laboratory databases and analysis of the scientific literature is performed. OBJECTIVE: To report a case of adolescent with duplication / triplication on chromosome 4 with cognitive deficit and facial dysmorphism and to discuss whether this CNV can be responsible for the clinical findings. CASE REPORT: A 15-year-old female patient was taken to the Genetics outpatient clinic to investigate a possible genetic syndrome. Consanguineous parents. Since childhood, she has divergent strabismus, delayed neuropsychomotor development with speech difficulties. She developed with hypotonic syndrome with myoclonic spasms. She evolved with cognitive deficit. Magnetic resonance imaging of brain showed compromised cerebellar hemispheres and atrophy of the bridge and midbrain. Normal karyotype (46, XX) and comparative genomic hybridization based on microarrays (a-CGH) revealed duplication / triplication in the region 4p 15.32p15.31, variant of uncertain meaning. CONCLUSION: The importance of research through chromosomal analysis by microarray in patients with intellectual disability, autism spectrum syndrome and multiple congenital malformations is highlighted ­ this for diagnosis improvement, specific medical care and genetic counseling.

Retraso del desarrollo del lenguaje en niños de 24 meses en un centro de salud en la Ciudad de Buenos Aires / Language development delay in 24-month-old children at a health care center of the City of Buenos Aires

Introducción. El retraso del desarrollo del lenguaje representa un desafío frecuente para pediatras y otros profesionales. El objetivo principal fue establecer su prevalencia en niñas y niños usuarios de un centro de salud. Población y métodos. Se evaluó el vocabulario expresivo de niñas y niños de 24 meses en un centro de salud utilizando el Inventario de Desarrollo de Habilidades Comunicativas MacArthur-Bates, versión breve (adaptación argentina). Se investigó la asociación entre el retraso del lenguaje y las características demográficas, socioeconómicas, conductuales/emocionales y de estrés parental. En aquellos con retraso expresivo, se evaluó el vocabulario receptivo y se investigaron posibles causas subyacentes (retraso cognitivo no verbal, trastornos del espectro autista, patología del oído medio e hipoacusia). Resultados. Se observó un retraso del desarrollo del lenguaje en 16 de 138 participantes (11,6%; intervalo de confianza -IC- 95%: 6,2-17%), asociado significativamente con antecedentes familiares de retraso del lenguaje, estrés parental y comportamiento problemático. El compromiso del vocabulario receptivo se identificó en 13 de 16 casos con retraso del desarrollo del lenguaje, y 7 presentaron sospecha de trastorno del espectro autista, de retraso global del desarrollo o ambas. Se observó la patología del oído medio en 5 de 9 estudiados. Los 9 participantes a los que se realizó una audiometría no presentaron resultados patológicos de acuerdo con los criterios adoptados en el presente trabajo. Conclusiones. El retraso del desarrollo del lenguaje representa un problema prevalente en nuestra población y se asoció principalmente con problemas de comportamiento y antecedentes familiares de retraso del lenguaje.

Introduction. Language development delay is a frequent challenge for pediatricians and other health care providers. The main objective of this study was to establish its prevalence among children attending a health care center. Population and methods. The expressive vocabulary of 24-month-old children attending a health care center was assessed using the Spanish-language MacArthur-Bates Communicative Development Inventories, short form (Argentine version). The association between language delay and demographic, socioeconomic, behavioral/emotional, and parental stress characteristics was analyzed. In children with expressive language delay, receptive vocabulary was assessed and possible underlying causes were studied (non-verbal cognitive delay, autistic spectrum disorders, middle ear pathology, and hearing impairment). Results. Language development delay was observed in 16 out of 138 participants (11.6%; 95% confidence interval: 6.2-17%), significantly associated with a family history of language delay, parental stress, and problem behavior. Receptive vocabulary compromise was identified in 13 out of 16 children with language development delay, and 7 were suspected of autistic spectrum disorder, overall developmental delay, or both. A middle ear pathology was observed in 5 out of 9 studied children. The 9 participants who had an audiometry did not have pathological results based on this study's criteria. Conclusions. Language development delay is a prevalent condition in our population and has been mainly associated with behavioral problems and a family history of language delay.

Aproximación a la validación de un juguete inteligente como apoyo en la detección precoz de problemas del desarrollo / Approach to the validation of a smart toy to support the early detection of developmental problems

Este artículo presenta un acercamiento a la validación de un juguete inteligente (desarrollado en el marco del proyecto EDUCERE), que aproxime a la detección no invasiva de trastornos de desarrollo del niño. El juguete consiste en una torre de 5 cubos en los que se han insertado sensores para medir una serie de parámetros. Para la recogida de datos, se contó con una muestra de 68 niños entre 24 y 48 meses. Además, a una submuestra de 27 niños se aplicó la escala de desarrollo Merrill Palmer-R. Los resultados parecen mostrar que el nº de cubos utilizados en la construcción de la torre, el nº de movimientos que realizan y la velocidad y aceleración de los movimientos son las variables más relevantes en la elaboración de la torre. El nivel de ejecución de la torre, evaluada a través de los sensores, se relaciona con diversas áreas del desarrollo infantil; siendo la motricidad gruesa el área de desarrollo que más diferencia entre los niños que construyeron bien la torre y los que la hicieron mal. Estos resultados apoyan la adecuación de los cubos inteligentes y sirven para futuras investigaciones que validen de forma consistente su utilidad para la detección de problemas de desarrollo.

This article is an approach to the validation of a smart toy (developed within the framework of a larger project called EDUCERE), with the aim of detecting developmental disorders in children, in an early, non-invasive manner. The toy consists of a tower of 5 cubes in which sensors have been inserted to measure a series of parameters. The sample was made up of 68 children between the ages of 24 and 48 months. The Merrill Palmer-R Scales of Development were applied to a sub-sample of 27 children. The results seem to show that the number of cubes used by the children in the construction of a tower, the number of movements they perform, as well as the speed and acceleration of their movements, are the most relevant variables in the construction of the tower. The execution level in the task of building of the tower ­measured by the sensors- is related to various areas of child development, such as gross and fine motor skills, social emotional and cognitive aspects, and the general intelligence level. Of these, gross motor skills are the area of development that differentiates more the children who built the tower correctly from those who did not. These results support the use of the smart cubes and serve as a precedent for future researches that aim to validate consistently their use in the detection of developmental problems

Avaliação instrumentalizada do desenvolvimento infantil: nova realidade brasileira / Instrumentalized evaluation for diagnosis of developmental disorders in childhood: a new Brazilian reality

RESUMO Objetivo Apresentar a Escala de Desenvolvimento Mental de Griffiths (EDMG), bem como sua adaptação transcultural para o Brasil. Método EDMG é um instrumento diagnóstico de avaliação do desenvolvimento infantil. O resultado de sua aplicação permite verificar se o desenvolvimento é típico ou se há diagnóstico de alteração em determinada área específica (motora grossa, pessoal-social, linguagem, motora fina-adaptativa e execução) ou do desenvolvimento global. Após contato com autores, permissão de utilização da EDMG e cumprimento dos aspectos éticos, a versão do instrumento em português europeu foi adaptada para o português brasileiro, com manutenção de equivalências semântica, idiomática, experimental e conceitual. A adaptação foi realizada por duas fonoaudiólogas, experientes em avaliação de lactentes, que realizaram o curso de capacitação para aplicar o instrumento. A versão final adaptada foi aplicada em 21 lactentes com desenvolvimento típico. Resultados Foram adaptados 39 itens, sem exclusão alguma. Todos os itens foram possíveis de serem aplicados, adequados à faixa etária alvo, sem ausência de resposta em nenhum item. Conclusão A EDMG é adaptada transculturalmente em diversos países e amplamente utilizada por realizar diagnóstico em faixa etária essencial para estimulação com a plasticidade cerebral em pleno desenvolvimento. Foi realizada a adaptação transcultural da EDMG para o Brasil, transformando o cenário brasileiro em relação à atenção a lactentes. Após normatização e verificação das medidas psicométricas, será possível, além de diagnóstico precoce, melhorar a qualidade dos atendimentos a esta população; realizar estudos transculturais e publicar em revistas internacionais com a viabilidade de a EDMG ser aceita e utilizada internacionalmente.

ABSTRACT Purpose To present the Griffiths Mental Development Scale (GMDS), as well as its cross-cultural adaptation to Brazil. Methods GMDS is a diagnostic tool for assessing child development. The result of its application allows verifying if development is typical or if there are alterations in a certain specific area (gross motor, personal-social, language, fine-adaptive motor and execution) or global development. After contact with the authors, permission to use GMDS was obtained and in compliance with ethical aspects, the Portuguese version of the instrument was adapted to Brazilian Portuguese with maintenance of semantic, idiomatic, experimental and conceptual equivalences. The adaptation was carried out by two speech therapists, experienced in evaluating infants, who were submitted to training course prior to the application of the instrument. The adapted final version was applied to 21 infants with typical development. Results Thirty-nine items were adapted without any exclusion. All items were possible to be applied, suitable for the target age group, with no response in any item. Conclusion GMDS has been trans-culturally adapted in several countries and widely used for performing diagnosis in the age group essential for stimulation with brain plasticity in full development. The cross-cultural adaptation of GMDS for Brazil was carried out, transforming the Brazilian scenario in relation to child care. After normalization and verification of psychometric measures, it was possible, in addition to early diagnosis, to improve the quality of care for this population; carry out cross-cultural studies and publish the results in international journals regarding the feasibility of GMDS being accepted and used worldwide.

The impact of anemia and body mass index (BMI) on neuromotor development of preschool children

Summary Objective: According to data from the World Health Organization (WHO), anemia is a prevalent health problem that leads to increased morbidity and mortality, especially in preschool children. Anemia is recognized as a major health problem due to its negative effects on the mental and physical development during childhood. The aim of our study was to determine the levels of anemia of children in a kindergarten affiliated to the Directorate of National Education using a non-invasive method, and to investigate the effects of anemia on the physical, mental and neuromotor development of children. Method: The levels of anemia was evaluated by using a non-invasive measurement device. Data collection was performed by means of a questionnaire to evaluate the children's physical development and set Denver Developmental Screening Test II scores. Results: Our findings show that 21% of non-anemic and 15% of anemic children are in the suspected abnormal group according to their DDST II total score. Furthermore, it has been identified that mild anemia has a positive effect on neuromotor development, while overweight and obesity affect neuromotor development in a negative way. Conclusion: According to the results obtained from the study, mild anemia may have a positive effect on the children's neuromotor development, while malnutrition could have a negative impact.

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis.

Depresión materna postnatal y su repercusión en el neurodesarrollo infantil: estudio de cohorte / Maternal postnatal depression and its impact on child neurodevelopment: a cohort study

La depresión postparto (DPP) es el trastorno psiquiátrico materno más frecuente que puede determinar efectos negativos en el vínculo madre-hijo y sobre el desarrollo infantil. Nuestro objetivo fue analizar la asociación entre la DPP a los 6 meses post parto y alteraciones del neurodesarrollo a los 18 meses, en una población homogénea caracterizada por bajo nivel socioeconómico y cultural. Pacientes y Método: Estudio de cohorte. Se incluyeron 127 puérperas y recién nacidos sanos. Se realizó el seguimiento del binomio a los 6 meses del parto, donde se le aplicó a la madre el test de Beck para depresión y ansiedad. Se evaluó el neurodesarrollo de los niños a los 18 meses mediante el test de Brunet-Lezine Revisado. Resultados: La muestra quedo compuesta por 125 mujeres y sus hijos. La media de edad fue de 24,5 años (DE: 6,02), el 30,6% tenía menos de 6 años de educación. La incidencia de DPP moderada a severa a los 6 meses del nacimiento fue de 20%. La media de puntaje de desarrollo global fue de 73,5 (DE: 8,1) en la población con depresión y 76,97 (DE: 8,07) en la población sin depresión (p = 0,04). El coeficiente de desarrollo de lenguaje fue de 69,08 (DE: 10,35) en la población con depresión y 74,11 (DE: 0,67) en la población sin depresión (p = 0,01). Conclusiones: La incidencia de DPP moderada a severa fue 20%. La DPP persistente en un contexto de vulnerabilidad socioeconómica impacta sobre el desarrollo infantil.

Post partum depresion (DPP) is the most frequent psquiatric disorder in pregnant woman and it may affect the neurodevelopment of their offspring. Our goal was to analyze the association between maternal depressive symptoms at 6 months after birth and child’s neurodevelopmental disorders at 18 months-old, in a homogeneous population characterized by low socioeconomic and cultural level. Patients and Methods: A prospective cohort study was conducted. There were included 127 healthy postpartum women and their infants. A structured interview was performed which included patronymic data and family perception before discharge. Binomial monitoring took place at 6 months postpartum, when was applied the Beck test for depression and anxiety to mothers; children´s neurodevelopment at 18 month-old was evaluated by Lezine Revised Brunet-test. Results: The sample consisted of 125 women and their children. The mean age was 24.5 year old (SD 6.02); 30.6% had completed less than 6 years of formal education. The incidence of moderate to severe postpartum depression at 6 months after birth was 20%. The overall development score mean was 73.52 (SD 8.06) in the depression population and 76.97 (SD 8.07) in the population without depression (p = 0.04). The development coefficient was 69.08 (SD: 10.35) in the depression population and 74.11 (SD 0.67) in the population without depression (p = 0.01). Conclusions: The incidence of moderate to severe DPP was 20%. Persistent DPP in a vulnerable socio-economic context has impact on child development.

Pain insensitivity in a child with a de novo interstitial deletion of the long arm of the chromosome 4: Case report / Insensibilidad al dolor en un niño con una deleción intersticial de novo del brazo largo del cromosoma 4

Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions. The purpose of this report is to document a case of a child affected by interstitial Cr4q del, expressing pain insensitivity as clinical feature not previously described. We also offer a discussion on genetic disorders featuring pain insensitivity/indifference. Case report. A Caucasian girl aged 12 came to our observation for a developmental delay with multiple congenital abnormalities and moderate intellectual disability (IQ 47). A de novo interstitial Cr4 del between band q31.3 and q32.2 (Cr4 del q31.3 to q32.2) was found. The child also expresses no evidence of pain perception to injures which normally evoke pain. Consequently, she is affected by severe disability caused by painless injuries and self-injurious behaviours, such as excessive self-rubbing and scratching. The neurological examination manifested high pain threshold with preserved tactile sensitivity. Conclusions. This is the first report of pain insensitivity in a patient with a specific genetic deletion involving the interstitial region of the distal long arm of Cr4. Moreover, this report could serve as a useful model to better understand mechanisms of pain perception and its modulation.

Ages and Stages Questionnaire: a global screening scale / Ages and Stages Questionnaire: una escala de evaluación global

Abstract: With standardized screening tools, research studies have shown that developmental disabilities can be detected reliably and with validity in children as young as 4 months of age by using the instruments such as the Ages and Stages Questionnaire. In this review, we will focus on one tool, the Ages and Stages Questionnaire, to illustrate the usefulness of developmental screening across the globe.

Resumen: Mediante el uso de herramientas de evaluación estandarizada, algunos estudios de investigación han demostrado que discapacidades de desarrollo se pueden detectar con fiabilidad y validez en niños desde los 4 meses de edad mediante el uso de los instrumentos estandarizados como el Ages and Stages Questionnaire (Cuestionario de las Edades y Etapas). Para ilustrar la utilidad de la evaluación del desarrollo infantil a escala global, en este trabajo se revisará la herramienta Ages and Stages Questionnaire.

Validez del Ages & Stages questionnaires para predecir el desempeño cognitivo en los primeros años de educación escolar / Predictive value of Ages & Stages Questionnaires for cognitive performance at early years of schooling

El Ages and Stages questionnaires (ASQ) fue validado en nuestro país para el tamizaje del desarrollo psicomotor. El objetivo es evaluar la validez del ASQ para predecir un menor rendimiento cognitivo en los primeros años de educación escolar. Pacientes y Método: Estudio de pruebas diagnósticas en una muestra de niños de nivel socioeconómico medio alto evaluados previamente con ASQ a los 8, 18 y/o 30 meses, y luego con la Escala de inteligencia para niños de Wechsler-tercera edición (WISC-III) entre los 6 y 9 años de edad. Cada evaluación con ASQ se contabilizó en forma independiente. La Escala de WISC-III fue estandarizada para la muestra, considerando rendimiento bajo cuando el puntaje total estaba bajo una desviación estándar de la media. Resultados: Se incluyeron 123 niños, correspondientes a 174 evaluaciones ASQ (42 de 8; 55 de 18; 77 de 30 meses de edad). El área bajo la curva ROC fue 80,7%, siendo superior a los 8 meses (98,0%) que a los 18 y 30 meses (78,1 y 79,3%, respectivamente). Considerando distintos criterios de corte con ASQ se obtuvo sensibilidad baja (27,8% a 50,0%), pero especificidad elevada (78,8% a 96,2%); el valor predictivo positivo varió entre 21,4% y 45,5%, mientras que el valor predictivo negativo fue 92,0-93,2%. Conclusión: El ASQ tiene baja sensibilidad pero excelente especificidad para predecir un menor rendimiento cognitivo durante los primeros años de educación escolar, siendo una buena alternativa para monitorizar el desarrollo psicomotor de niños que se atienden en el sector privado de salud de nuestro país.

The Ages and Stages questionnaires (ASQ) has been recently validated in our country for developmental screening. The objective of this study is evaluate the validity of ASQ to predict low cognitive performance in the early years of schooling. Patients and Method: Diagnostic test studies conducted on a sample of children of medium-high socioeconomic level were evaluated using ASQ at least once at 8, 18 and/or 30 months old, and later, between 6 and 9 years old, reevaluated using the Wechsler Intelligence Scale for Children-third edition (WISC-III). Each ASQ evaluation was recorded independently. WISC-III was standardized, considering underperformance when the total score were under -1 standard deviation. Results: 123 children, corresponding to 174 ASQ assessments (42 of them were 8 months old, 55 were 18 months and 77 were 30 months of age) were included. An area under the ROC curve of 80.7% was obtained, showing higher values at 8 months (98.0%) compared to 18 and 30 months old (78.1 and 79.3%, respectively). Considering different ASQ scoring criteria, a low sensitivity (27.8 to 50.0%), but a high specificity (78.8 to 96.2%) were obtained; the positive predictive value ranged between 21 and 46%, while the negative value was 92.0-93.2%. Conclusion ASQ has low sensitivity but excellent specificity to predict a low cognitive performance during the first years of schooling, being a good alternative to monitor psychomotor development in children who attend the private sector healthcare in our country.

Child development in primary care: a surveillance proposal / Desenvolvimento infantil em atenção primária: uma proposta de vigilância

Abstract Objective: To evaluate a child development surveillance tool proposal to be used in primary care, with simultaneous use of the Denver II scale. Methods: This was a cross-sectional study of 282 infants aged up to 36 months, enrolled in a public daycare in a countryside community in Rio Grande do Sul/Brazil. Child development was assessed using the surveillance tool and the Denver II scale. Results: The prevalence of probable developmental delay was 53%; most of these cases were in the alert group and 24% had normal development, but with risk factors. At the Denver scale, the prevalence of suspected developmental delay was 32%. When risk factors and sociodemographic variables were assessed, no significant difference was observed. Conclusion: The evaluation of this surveillance tool resulted in objective and comparable data, which were adequate for a screening test. It is easily applicable as a screening tool, even though it was originally designed as a surveillance tool. The inclusion of risk factors to the scoring system is an innovation that allows for the identification of children with suspected delay in addition to developmental milestones, although the definition of parameters and choice of indicators should be thoroughly studied.

Resumo Objetivo Avaliar uma proposta de um instrumento de vigilância em desenvolvimento para uso na atenção primária e a aplicação simultânea da escala de Denver II. Métodos Estudo transversal com uma amostra de 282 crianças até 36 meses da rede pública escolar, numa comunidade do RS. Foi avaliado o desenvolvimento infantil com o instrumento de vigilância proposto e o Denver II. Resultados A prevalência de provável atraso no desenvolvimento foi de 53%, a maioria desses na condição de Alerta e 24% com desenvolvimento normal, mas com fatores de risco. No Denver a prevalência foi de 32% com suspeita para o atraso no desenvolvimento. Os fatores de risco e as variáveis sociodemográficas avaliadas não apresentaram diferenças significativas. Conclusão A avaliação desse instrumento de vigilância trouxe dados objetivos e comparativos, nos moldes preconizados para um teste de triagem. É um instrumento de fácil aplicabilidade como triagem, originalmente como vigilância. A inclusão dos fatores de risco no sistema de escore é uma inovação que possibilita o aumento da identificação de crianças com suspeita de atraso além dos marcos do desenvolvimento, ainda que a definição dos parâmetros e da escolha dos indicadores deva ser melhor construída.