Alteraciones de la tirotropina en niños menores a cinco años con desnutrición crónica y su asociación con el desarrollo neuro-psicomotor / Changes in thyrotropin in children under five years of age with chronic malnutrition and their association with neuro-psychomotor development

Introducción: La desnutrición tiene una mortalidad del 45% en preescolares y predomina en las zonas rurales. La deficiencia de yodo puede provocar hipotiroidismo, que se manifiesta por niveles elevados de TSH, y puede estar asociada con un retraso en el neurodesarrollo psicomotor (PMDN). El objetivo del estudio fue determinar la prevalencia de alteraciones de TSH en niños con desnutrición crónica y su asociación con alteraciones de DNPM en la población indígena menor de cinco años. Métodos: Este estudio transversal analiza la base de datos del "Wawapak -kausay" Proyecto de población infantil indígena en cuatro cantones de la provincia de Chimborazo-Ecuador 2018 -2019. Se realizó un análisis univariado con cálculo de frecuencia y porcentajes; análisis bivariado con reporte de OR e IC 95%, considerando significativo P < 0,05. Resultados: Hubo 350 casos de desnutrición crónica; El 50,6% eran hombres del cuartil más bajo de ingreso económico (32%) y del cantón Riobamba (44%). Un total de 88,6% informó TSH normal, 10,8% informó TSH alta y 0,6% informó TSH baja. El suministro irregular de agua y la alteración de la TSH fueron estadísticamente significativos (P < 0,01). Se aplicó la prueba de Denver II a 82 niños; El 70,7% presentó desarrollo normal, el 8,5% presentó sospecha de retraso y el 20,7% presentó retraso psicomotor, con predominio en el área del lenguaje (15,9%); las mujeres fueron más afectadas (P=0,02). Conclusiones: Uno de cada 10 niños con desnutrición crónica tenía TSH elevada. No se encontró asociación significativa entre valores alterados de TSH y sospecha o retraso en el desarrollo psicomotor

Introduction: Malnutrition has a mortality of 45% in preschoolsand predominates in rural areas. Iodine deficiency can lead to hypothyroidism, manifested by elevated TSH, and may be associated with retarded psychomotor neurodevelopment (PMDN). The study's objective was to determine the prevalence of TSH alterations in children with chronic malnutrition and their association with DNPM alterations in the indigenous population under five years of age. Methods: This cross-sectional study analyzes the database of the "Wawapak-kausay" Project of the indigenous child population in four cantons of the province of Chimborazo-Ecuador from 2018 -2019. A univariate analysis was carried out with the calculation of frequency and percentages; a bivariate analysis with reporting OR and 95% CI, considering significant P <0.05. Results: There were 350 cases of chronic malnutrition; 50.6% were menfrom the lowest quartile of economic income (32%) and the Riobamba canton (44%). A total of 88.6% reported normal TSH, 10.8%reportedhigh TSH, and 0.6% reported low TSH. Irregular water supply and TSH disturbance were statistically significant (P< 0.01). The Denver II test was applied to 82 children; 70.7% presented normal development, 8.5%presentedsuspected delay, and 20.7% presented psychomotor delay, predomi-nantly in the language area (15.9%); women were more affected (P=0.02). Conclusions: Oneout of 10 children with chronic malnutrition had elevated TSH. No significant association was found between altered TSH values and suspected or delayed psychomotordevelopment

Consequências da herpes tipo 1 no desenvolvimento neuropsicomotor / Consequences of herpes type 1 on neuropsymotor development / Consecuencias del herpes tipo 1 en el desarrollo neuropsicomotor

Objetivo: Descrever as consequências do herpes tipo 1 no desenvolvimento neuropsicomotor. Metodologia: Trata-se de uma revisão narrativa das consequências da Herpes do tipo 1 no Desenvolvimento Neuropsicomotor. Questão norteadora: "Quais os efeitos da infecção congênita da Herpes tipo 1 no Desenvolvimento Neuropsicomotor observadas entre os anos de 2010 a 2020?". O levantamento dos dados ocorreu: dezembro/2021 a janeiro/2022 nas bases de dados: Scientific Eletronic Library Online, Literatura Latino Americana e do Caribe em Ciências da Saúde e National Library of Medicine. Descritores: "Herpes"; "Desenvolvimento Neuropsicomotor"; "Herpes Congênita" e "Neuropsychomotor Development" com operadores booleanos AND e OR. Critérios de inclusão: artigos originais, texto completo. Exclusão: cartas ao editor, teses, dissertações e revisões de literatura. Resultados: Foram encontrados 21 artigos nas bases de dados pesquisadas, contudo, após a aplicação dos critérios de inclusão, 3 artigos foram considerados elegíveis. Após a análise, pode-se afirmar os impactos do Vírus Herpes pode gerar ao desenvolvimento neuropsicomotor, podendo ocasionar disfagia, disartria, alterações motoras, cognitivas e sociais, bem como outros sinais e sintomas que levarão ao atraso no desenvolvimento. Conclusão: O Herpes Vírus Simples pode ocasionar transtornos cerebrais em crianças, o que acarreta distúrbios para o amadurecimento normal, com consequente atrasos no desenvolvimento neuropsicomotor.

Objective: To describe the consequences of herpes type 1 on neuropsychomotor development. Methodology: This is a narrative review of the consequences of Herpes type 1 on Neuropsychomotor Development. Guiding question: "What are the effects of congenital Herpes type 1 infection on Neuropsychomotor Development observed between the years 2010 to 2020?". Data collection took place: December/2021 to January/2022 in the following databases: Scientific Electronic Library Online, Latin American and Caribbean Literature in Health Sciences and National Library of Medicine. Keywords: "Herpes"; "Neuropsychomotor Development"; "Herpes Congenita" and "Neuropsychomotor Development" with Boolean operators AND and OR. Inclusion criteria: original articles, full text. Exclusion: letters to the editor, theses, dissertations and literature reviews. Results: 21 articles were found in the searched databases, however, after applying the inclusion criteria, 3 articles were considered eligible. After the analysis, it can be said the impacts of the Herpes Virus can generate neuropsychomotor development, which can cause dysphagia, dysarthria, motor, cognitive and social changes, as well as other signs and symptoms that will lead to developmental delay. Conclusion: Herpes Simplex Virus can cause brain disorders in children, which causes disturbances to normal maturation, with consequent delays in neuropsychomotor development.

Objetivo: Describir las consecuencias del herpes tipo 1 en el desarrollo neuropsicomotor. Metodología: Se trata de una revisión narrativa de las consecuencias del Herpes Tipo 1 en el Desarrollo Neuropsicomotor. Pregunta norteadora: "¿Cuáles son los efectos de la infección congénita por Herpes tipo 1 en el desarrollo neuropsicomotor observados entre los años 2010 y 2020?". Los datos se recopilaron entre diciembre de 2021 y enero de 2022 en las siguientes bases de datos: Scientific Eletronic Library Online, Latin American and Caribbean Literature on Health Sciences y National Library of Medicine. Descriptores: "Herpes"; "Desarrollo neuropsicomotor"; "Herpes congénito" y "Desarrollo neuropsicomotor" con operadores booleanos AND y OR. Criterios de inclusión: artículos originales, texto completo. Criterios de exclusión: cartas al director, tesis, disertaciones y revisiones bibliográficas. Resultados: Se encontraron 21 artículos en las bases de datos consultadas, sin embargo, tras aplicar los criterios de inclusión, se consideraron elegibles 3 artículos. Después del análisis, se puede afirmar los impactos que el Herpes Virus puede tener en el desarrollo neuropsicomotor, que puede causar disfagia, disartria, alteraciones motoras, cognitivas y sociales, así como otros signos y síntomas que conducirán a un retraso en el desarrollo. Conclusión: El virus del herpes simple puede causar alteraciones cerebrales en los niños, lo que conduce a trastornos de la maduración normal, con los consiguientes retrasos en el desarrollo neuropsicomotor.

The impact of child poverty on brain development: does money matter? / O impacto da pobreza infantil no desenvolvimento do cérebro: o dinheiro importa?

ABSTRACT The development of the human nervous system makes up a series of fundamental and interdependent events involving birth, growth, and neuronal maturation, in addition to the positive or negative selection of synapses of these neurons that will participate in the composition of neural circuits essential to the activity of the nervous system. In this context, where environment and social relationships seem to be relevant markers for neurodevelopment, advanced neuroimaging techniques and behavioral assessment tools have demonstrated alterations in brain regions and cognitive functions among children developing in low or high socioeconomic status environments. Considering the aspects mentioned, this review aimed to identify the importance of socioeconomic status in children's brain development, seeking to identify what are the impacts of these factors on the morphological and physiological formation of the nervous system, allowing a greater understanding of the importance of environmental factors in neurodevelopmental processes.

RESUMO O desenvolvimento do sistema nervoso humano compõe uma série de eventos fundamentais e interdependentes envolvendo o nascimento, crescimento e maturação neuronal, além da seleção positiva ou negativa de sinapses desses neurônios que participarão da composição de circuitos neurais essenciais à atividade do sistema nervoso. Nesse contexto, em que o ambiente e as relações sociais parecem ser marcadores relevantes para o neurodesenvolvimento, técnicas avançadas de neuroimagem e ferramentas de avaliação comportamental têm demonstrado alterações em regiões cerebrais e funções cognitivas em crianças que se desenvolvem em ambientes de baixo ou alto nível socioeconômico. Considerando os aspectos mencionados, esta revisão teve como objetivo identificar a importância do status socioeconômico no desenvolvimento cerebral infantil, buscando identificar quais são os impactos desses fatores na formação morfológica e fisiológica do sistema nervoso, permitindo maior compreensão da importância dos fatores ambientais nos processos de neurodesenvolvimento.

Modelo de monitoreo de comportamientos inusuales o conglomerados de defectos congénitos en el nivel departamental, distrital y municipal, Colombia, 2018 / Monitoring model of unusual behaviors or conglomerates of birth defects at the departmental, district and municipal levels, Colombia, 2018

Resumen Introducción: La información de la vigilancia en salud pública permite la detección de patrones inusuales en los datos, con el fin de que las respuestas de salud pública sean oportunas y contribuyan a la disminución de la morbimortalidad de la población infantil. Objetivos: Describir un modelo de monitoreo diseñado para la identificación de comportamientos inusuales y conglomerados de defectos congénitos, así como el incremento en la frecuencia del evento en comparación con el número de casos notificados históricamente. Materiales y Métodos: Estudio descriptivo retrospectivo que incluye el análisis de los casos notificados al Sistema Nacional de Vigilancia en Salud Pública (SIVIGILA) durante los últimos tres años, agrupados y comparados con las prevalencias de acuerdo con lo reportado por el ECLAM. Se usó la distribución de probabilidades de Poisson y se identificó aquellas entidades territoriales en donde se observan diferencias significativas entre lo esperado y lo observado con un valor de significancia < 0,05 (p < 0,05). Resultados: Se identificaron prevalencias superiores en holoprosencefalia, microcefalia, polidactilia, defectos por reducción de miembro inferior y coartación de la aorta. Los comportamientos inusuales de los defectos congénitos de sistema nervioso central se concentran en anencefalia, espina bífida, hidrocefalia, microcefalia. Conclusiones: Las condiciones particulares de cada municipio y/o departamento y el comportamiento de los defectos congénitos en algunas áreas podría indicar que las mujeres en estado de gestación son susceptibles a mayores riesgos en zonas particulares, y que este riesgo en particular podría ser el resultado de diversas inequidades en salud generadas por las interacciones sociales, ambientales y comportamentales.

Abstract Introduction: The public health surveillance information allows the detection of unusual patterns in the data in order that public health responses are timely and contribute to the reduction of morbidity and mortality of the child population. Objectives: To describe a monitoring model designed for the identification of unusual behaviors and conglomerates of congenital defects, as well as the increase in the frequency of the event in comparison with the number of cases reported historically. Materials and Methods: A retrospective descriptive study that includes the analysis of the cases notified to the Public Health National Surveillance System (SIVIGILA) during the last three years, grouped and compared with the prevalences according to what was reported by the ECLAM. The distribution of Poisson probabilities was used identifying those territorial entities where significant differences were observed between what was expected and what was observed with a value of significance < 0.05 (p < 0.05). Results: Superior prevalences were identified in holoprosencephaly, microcephaly, polydactyly, defects due to reduction of the lower limb and coarctation of the aorta. Unusual behaviors of congenital defects of the central nervous system are concentrated in anencephaly, spina bifida, hydrocephalus, microcephaly. Conclusions: The conditions of each municipality and / or department and the behavior of congenital defects in some areas could indicate that women in pregnancy are susceptible to greater risks areas, and that this risk could be the result of various health inequities generated by social, environmental, and behavioral interactions.

Uso del método de observación: una propuesta de aplicación al análisis de estrategias de resolución de problemas en niños con discapacidad / Use of observational method: a proposal for application to the analysis of problem-solving strategies in children with disabilities

El presente trabajo se ocupa de evaluar posibilidades del método de observación aplicado al análisis de estrategias de resolución de problemas en niños con discapacidad mediante juegos y tareas estructuradas. El marco teórico de referencia de esta contribución está representado por la teoría de la resolución de problemas, que contiene los principales procesos que intervienen en la gestión de los problemas y que nosotros aplicamos al desarrollo cognitivo y metacognitivo atípico. Junto con tres tareas diferentes estructuradas(Torre de Hanoi, Tetris y Bloques de construcción), usamos dos listas de comportamientos para codificar estrategias de resolución de problemas adoptadas por niños y/o adolescentes con desarrollo atípico. La aplicación de este tipo de observación con el uso de listas de comportamientos podría ser útil para crear en relación entre la investigación cualitativa y cuantitativa para mejorar el conocimiento de las estrategias de resolución de problemas y competencias metacognitivas en niños desarrollados atípicos(AU)

This paper is concerned with evaluating the possibilities of the observational method applied to the analysis of problem-solving strategies in children with disabilities through structured tasks. The theoretical framework of reference for this contribution is represented by the theory of problem-solving, containing the main processes involved in problem management,which we apply to atypical cognitive and metacognitive development. Together with three different structured tasks (Tower of Hanoi, Tetris, and Building Blocks), we used two lists of behaviors to code problem-solving strategies adopted by children and/or adolescents with atypical development. The application of this type of observation with the use of lists of behaviors could be useful to create a link between qualitative and quantitative research to improve the knowledge of problem-solving strategies and metacognitive competencies in atypically developed children(AU)

O efeito da terapia Cuevas Medek Exercises na displasia do desenvolvimento de quadril em paciente com paralisia cerebral: estudo de caso / The effect of Cuevas Medek Exercises Therapy in developmental hip dysplasia in a patient with cerebral palsy: case study

Introdução: A terapia Cuevas Medek Exercises (CME) é um método fisioterapêutico de manuseio sem comandos verbais, pois não busca reações voluntárias e, sim, acessar a via cortical involuntária. As correções dos movimentos acontecem pelo estímulo sensorial da mão do terapeuta. Objetivo: Avaliar o efeito da CME na displasia do desenvolvimento de quadril (DDQ) de uma paciente com paralisia cerebral (PC). Métodos: A pesquisa é caracterizada como estudo de caso, tendo como participante uma menina de seis anos com PC, tetraparesia e displasia bilateral de quadril. As intervenções começaram após avaliação desenvolvida pelo método CME, radiografia de quadril e classificação nos níveis do Sistema de Classificação da Função Motora Grossa (GMFCS). A criança foi submetida a terapia CME para tratar a DDQ durante 10 meses, totalizando 136 sessões (45 minutos cada), composta de quatro a seis exercícios repetidos, seis vezes em média. Foram registrados o tempo e/ou quantas repetições conseguiu realizar. Resultados: Evoluiu de 55 para 61 pontos no score do CME, melhorou sua idade motora e, na radiografia de quadril, o esquerdo passou de subluxado para quadril de risco. Conclusão: A paciente melhorou idade motora, controle de tronco e bipedestação, autonomia e encaixe do quadril em ambos os lados. (AU)

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80%of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programmes are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalisation and stigmatization of people with albinism and to improve their quality of life

Psychosocial challenges of children with disabilities in Sekhukhune District, Limpopo province of South Africa: Towards a responsive integrated disability strategy

Disability, and everything it encompasses, presents major challenges to individuals, families and communities worldwide. Children with disabilities (CWD) are marginalised and excluded in most societies. Discrimination and prejudice towards CWD are compounded by poverty, lack of essential services and support and sometimes a hostile and inaccessible environment. Objectives: The study sought to examine the psychosocial challenges experienced by CWD in the Sekhukhune district of Limpopo province, South Africa. Based on the identified, articulated and expressed challenges, the study sought to recommend improvement of the existing Integrated National Disability Strategy (INDS) for greater responsiveness to the needs of CWD at both provincial and local levels. Method: The interpretivist qualitative mode of enquiry was the chosen methodology for this study. Phenomenology and descriptive research designs guided the study. Purposive sampling was employed, and data were collected from 36 participants using three triangulated methods: individual in-depth interviews, focus group discussions and key informant interviews. Thematic data analysis was used to analyze data. Results: The findings revealed that CWD in Sekhukhune experienced numerous challenges which affected their social functioning, development and general well-being. Aggravating factors included stigma, labelling and discrimination; disability-specific discrimination and bullying; exclusive education; sexual exploitation; lack of governmental support and poor implementation of disability-specific policies, amongst others. Conclusion: The provisions of the INDS to promote inclusion, integration, mainstreaming and equitable access to resources and services remained an ideal rather than a reality for CWD in Sekhukhune.

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues

Albinism is an inherited condition associated with significant depigmentation of the skin, hair and eyes. It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition. This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology, genetics and genetic counselling, health, psychosocial and cultural issues, and medical care. There are several recessively inherited types of OCA and a mutation, responsible for about 80%of South African variants, has been identified in OCA type 2. The physical characteristics associated with albinism, that is, sun-sensitive skin and low vision, can be managed. However, people with OCA in Africa also experience psychosocial issues, such as discrimination, because of the various superstitious beliefs and attitudes held in the community. Management should include medical care for health problems, appropriate adjustment of the schooling context and genetic counseling. In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community, to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life.

Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children / 中华儿科杂志

Objective: To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. Methods: The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results: Among 11 children 6 were boys and 5 were girls. Two of them were diagnosed with developmental and epileptic encephalopathy. The ages of seizures onset were 3 months and 9 months, respectively. Seizure types included epileptic spasm, tonic seizures, tonic spasm and focal seizures, and 1 patient also had startle attacks. EEG showed interictal multifocal epileptiform discharges. Both of them were added with more than 2 anti-seizure drugs, which were partially effective but could not control. They had moderate to severe mental and motor retardation. The phenotype of 9 cases was developmental delay or intellectual disability without epilepsy, age of visit 1 year to 6 year and 4 months of whom 5 cases had severe developmental delay, 2 cases had moderate and 2 cases had mild delay. Multi-focal epileptiform discharges were observed in 3 cases, no abnormality was found in 3 cases, and the remaining 3 cases did not undergo EEG examination. Ten cases underwent brain magnetic resonance imaging (MRI), 6 cases had nonspecific abnormalities and 4 cases were normal. Nine GRIN2B gene heterozygous variants were detected by next-generation sequencing in these 11 patients, 8 cases had missense variants and 1 case had nonsense variant, all of which were de novo and 3 of which were novel. Missense variants were found in 10 patients, among them 6 cases had severe developmental delay, 3 cases had moderate and 1 case had mild developmental delay, but the patient with nonsense variant showed mild developmental delay without epilepsy. Conclusions: The phenotypes of GRIN2B gene related neurological developmental disorders in children are diverse, ranging from mild intellectual impairment without epilepsy to severe epileptic encephalopathy. Patients with epileptic phenotype usually have an onset age of infancy, and spasm and focal seizures are the most common seizure types. And the epiletice episodes are refractory. Most of the patients with missense variants had severe developmental delay.

De novo variant of CSNK2B causes Poirier-Bienvenu neurodevelopmental syndrome: two case report / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and CSNK2B gene variant of 2 children with Poirier-Bienvenu neurodevelopmental syndrome, and to identify the possible pathogenic causes and provide evidence for clinical diagnosis.@*METHODS@#Two children with Poirier-Bienvenu neurodevelopmental syndrome were selected from West China Second University Hospital, Sichuan University. The clinical manifestations, laboratory examination and CSNK2B gene variant were analyzed.@*RESULTS@#The main manifestations of 2 children were epilepsy, motor or intellectual retardation. Whole exon sequencing showed that CSNK2B gene c. 291+4A>T heterozygous splicing variant was found in case one, and CSNK2B copy number variation(CNV) was lost in case two. Case one received no special treatment, followed up for 8+ months, seizures and motor development were improved; case two had recurrent seizures for 9+ years, and received levetiracetam and clonazepam antiepileptic treatment. No seizures have occurred for 2 years now, and a large number of epileptic discharges can still be seen in video electroencephalogram (VEEG) with slightly backward intelligence and language development.@*CONCLUSION@#Our study further proves that the pathogenic variant of CSNK2B is related to epilepsy with developmental disorder, and enrich is the CSNK2B gene variant spectrum. The pathogenesis of CSNK2B has great clinical heterogeneity, with great difference in severity of nervous system injury and different prognosis, and agenesis of corpus callosum may be one of its clinical phenotypes.

Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency.@*METHODS@#Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites.@*RESULTS@#Sanger sequencing showed that the proband carried a homozygous c.1529C>T (p.S510F) variant of the ALDH5A1 gene, for which his mother was a carrier. The same variant was not detected in his father. However, high-throughput sequencing revealed that the child and his father both had a deletion of ALDH5A1 gene fragment (chr6: 24 403 265-24 566 986).@*CONCLUSION@#The c.1529C>T variant of the ALDH5A1 gene and deletion of ALDH5A1 gene fragment probably underlay the disease in the child. High-throughput sequencing can detect site variation as well as deletion of gene fragment, which has enabled genetic diagnosis and counseling for the family.

Clinical and genetic analysis of three children patients with Kleefstra syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of three children with unexplained developmental delay/intellectual disability (DD/ID).@*METHODS@#Peripheral blood samples were collected from the patients and subjected to chromosomal microarray analysis (CMA).@*RESULTS@#Patient 1 was found to harbor a 190 kb deletion at 9q34.3, which encompassed most of EHMT1 (OMIM 607001), the key gene for Kleefstra syndrome (OMIM 610253). Patients 2 and 3 were siblings. CMA showed that they have shared four chromosomal copy number variations (CNVs) including a deletion at 9q34.3 which spanned 154 kb and 149 kb, respectively, and encompassed the EHMT1 and CACNA1B (OMIM 601012) genes. The remaining 3 CNVs were predicted to be with no clinical significance.@*CONCLUSION@#Microdeletions at 9q33.4 probably underlay the pathogenesis of DD/ID in the three children, for which EHMT1 may be the key gene.

Processamento sintático e fonológico de crianças com dificuldades de aprendizagem / Syntactic and phonological processing of children with learning disabilities / Procesamiento sintáctico y fonológico de niños con dificultades de aprendizaje

Introdução: As dificuldades de aprendizagem são muito conhecidas pelo baixo desempenho escolar, porém, é importante diferenciá-las e entender suas origens e sintomas. Objetivo: Este estudo teve como objetivos verificar habilidades de processamentos fonológico e sintático em escolares com dificuldades de aprendizagem e investigar se alterações são sobrepostas, podendo indicar possível alteração de linguagem. Métodos: Participaram deste estudo 30 escolares, na faixa etária de sete a 11 anos, de ambos os gêneros, do 2º ao 5º ano do Ensino Fundamental, divididos em grupo experimental e controle. Foram avaliadas a nomeação rápida de figuras, repetição de pseudopalavras, leitura de palavras e pseudopalavras, consciência fonológica e compreensão do processamento sintático. Os resultados foram analisados por meio de testes estatísticos, Resultados: Observou-se diferença estatisticamente significativa entre os desempenhos dos participantes com e sem dificuldades de aprendizagem para a maioria das habilidades de processamento fonológico, indicando melhores resultados do grupo controle. Além disso, houve diferença de desempenho em função da idade para o grupo experimental nas tarefas de processamento fonológico, com melhores rendimentos de crianças mais velhas. A respeito do processamento sintático, não foram verificadas diferenças estatísticas significativas entre os grupos, sendo observada uma sutil diferença entre as idades apenas em relação à compreensão das relativas encaixadas de objeto com verbo transitivo. Conclusão: O desempenho das crianças com dificuldades de aprendizagem demonstra-se alterado somente para as habilidades de processamento fonológico. Quanto ao processamento sintático, os grupos apresentaram resultados semelhantes; no entanto é necessário aumentar o tamanho da amostra para resultados conclusivos.

Introduction: Learning difficulties are well known for poor school performance, however, it is important to differentiate them and understand their origins and symptoms. Objective: This study aimed to verify phonological and syntactic processing skills in students with learning difficulties and to investigate whether changes are overlapping, which may indicate possible changes in the underlying language. Methods: This study involved 30 schoolchildren, ages seven to 11, of both genders, from 2nd to 5th grade, divided into experimental and control group. Tools were used to evaluate the rapid naming of figures, repetition of pseudowords, reading of words and pseudowords, phonological awareness and understanding of syntactic processing. The results were analyzed through statistical tests. Results: A statistically significant difference was observed between the performances of participants with and without learning difficulties for most phonological processing skills, indicating better control group results. In addition, there was an age-related performance difference for the experimental group in phonological processing tasks, with better yields for older children. Regarding syntactic processing, no significant statistical differences were found between the groups, and a subtle difference between ages was observed only in relation to the understanding of the relative fit of object with transitive verb. Conclusion: The performance of children with learning difficulties is shown to have changed only for phonological processing skills. Regarding syntactic processing, the groups showed similar results; however it is necessary to increase the sample size for conclusive results.

Introducción: Las dificultades de aprendizaje son bien conocidas por el bajo rendimiento escolar, sin embargo, es importante diferenciarlas y comprender sus orígenes y síntomas. Objetivo: Este estudio tuvo como objetivo verificar habilidades de procesamientos fonológico y sintáctico en estudiantes con dificultades de aprendizaje y investigar si cambios se superponen, que puede indicar un posible cambio en el lenguaje subyacente. Metodos: Participaron de este estudio treinta estudiantes, de 7 a 11 años, de ambos sexos, de 2º a 5º de la primaria, divididos em grupo experimental y control. Se evaluó la denominación rápida de figuras, repetición de pseudopalabras, lectura de palabras y pseudopalabras, conciencia fonológica y comprensión del procesamiento sintáctico. Los resultados fueron analizados mediante pruebas estadísticas. Resultados: Se observó una diferencia estadísticamente significativa entre desempeños de participantes con y sin dificultades de aprendizaje para mayoría de las habilidades de procesamiento fonológico, indicando mejores resultados del grupo control. Además, hubo una diferencia en el desempeño en función de la edad para el grupo experimental en tareas de procesamiento fonológico, con mejores rendimientos de niños mayores. En relación al proceso sintáctico no se observan diferencias estadísticas considerables entre los grupos, observándose una pequeña diferencia entre edades solamente relacionada a la comprensión de relativas adecuadas de complemento con verbo transitivo. Conclusión: El desempeño de niños con dificultades de aprendizaje se muestra alterado solamente para habilidades de procesamiento fonológico. En cuanto al procesamiento sintáctico, los grupos mostraron resultados similares, sin embargo, es necesario aumentar el tamaño de la muestra para obtener resultados concluyentes.

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.

Problemas del sueño en una muestra de niñas y niños con trastornos del desarrollo, antes y durante la pandemia por COVID-19 / Sleep problems in a sample of children with developmental disorders, before and during the COVID-19 pandemic

Los problemas del sueño (PS) son frecuentes, principalmente en niñas y niños con trastornos del desarrollo (TD), y causan un impacto en su funcionamiento y calidad de vida familiar. El pediatra tiene un rol importante en su abordaje. Objetivo. Definir la frecuencia y los tipos de PS en una muestra de niñas y niños con TD, determinar la proporción de pediatras que abordaron estas dificultades, evaluar los efectos de la higiene del sueño (HS) y describir el impacto de la pandemia por COVID-19 en el sueño. Población y métodos. Estudio cuasiexperimental. El diagnóstico de PS se realizó con la preocupación de los padres y/o criterios clínicos. Se brindaron estrategias de HS, luego se evaluó su efecto según referencia de los padres y uso del cuestionario CSHQ-S (Children ́s Sleep Habits Questionnaire en español) pre- y posestrategias. Durante la pandemia por COVID-19, se midió nuevamente la variable PS y las relacionadas a HS. Resultados. Se incluyeron 161 niñas y niños. La frecuencia de PS fue del 55 %. El 80 % mejoró con HS. El 83 % tenía pediatra de cabecera, y de ellos, el 45 % había preguntado acerca del sueño. Durante la pandemia por COVID-19 hubo aumento de PS y cambios en las variables de HS. Conclusión. Aproximadamente la mitad de los niñas y niños con TD presentan PS; esto solo fue abordado por el 45 % de los pediatras. La HS resultó beneficiosa para la mayoría, por lo que la intervención del pediatra parece fundamental. Durante la pandemia por COVID-19 aumentaron los PS, como posible reflejo del impacto ambiental en los niñas y niños con TD.

Sleep problems (SPs) are common, especially among children with developmental disorders (DDs), and affect their functioning and quality of family life. Pediatricians play a major role in their management. Objective. To define the frequency and types of SPs in a sample of children with DDs, determine the proportion of pediatricians who addressed such difficulties, assess the effects of sleep hygiene (SH), and describe the impact of the COVID-19 pandemic on sleep. Population and methods. This was a quasi-experiment. SPs were diagnosed based on parents' concerns and/or clinical criteria. SH strategies were provided and their effect was assessed as per parents' reports and the Children's Sleep Habits Questionnaire in Spanish (CSHQ-S) before and after the strategies. During the COVID-19 pandemic, the SP outcome measure and SH-related outcome measures were measured again. Results. A total of 161 children were included. The frequency of SPs was 55 %; 80 % improved with SH. Eighty-three percent of children had a primary pediatrician; of these, 45 % had consulted about sleep. During the COVID-19 pandemic, SPs increased and SH outcome measures changed. Conclusion. Approximately half of children with DDs have SPs; and the problem was only addressed by 45 % of pediatricians. SH was beneficial for most children, so pediatricians' role seems critical. During the COVID-19 pandemic, SPs increased, probably as a result of its environmental impact on children with DD

Instrumentos de vigilância e rastreio do desenvolvimento infantil e tecnologia móvel: revisão / Child development monitoring and screening instruments and mobile technology: review / Instrumentos de vigilancia y detección del desarrollo infantil y tecnología móvil: revisión

Este estudo é uma revisão de literatura desenvolvida para investigar o uso de instrumentos de vigilância e rastreio para atraso do desenvolvimento infantil por meio de tecnologia móvel. Além disso, objetivou-se caracterizar as metodologias utilizadas, amostras de participantes, se clínicas ou não, contexto de pesquisa, bem como a finalidade do uso instrumento. Foi realizada a busca de artigos, por três juízes, nas bases de dados indexadas na BVS, PUBMED/MEDLINE e APA PsyNET. Utilizaram-se as recomendações do PRISMA para essa revisão. A partir de critérios de inclusão/exclusão, foram recuperados e analisados cinco artigos. As duas modalidades de instrumentos: vigilância e rastreio, apresentaram-se em três categorias de estudo: 1) descritivo 2) viabilidade/usabilidade 3) validade. Conclui-se que mais estudos sejam necessários, especialmente para avaliar o impacto e eficácia do uso de instrumentos de vigilância e rastreio para atraso no desenvolvimento infantil em formato de tecnologia móvel. (AU)

This study is a literature review designed to investigate the use of monitoring and screening instruments for child developmental delay using mobile technology. In addition, the aim was to characterize the methodologies used, samples of participants, whether clinical or not, the research context and the purpose of the instrument use. Articles were searched by three judges in the databases indexed in the BVS, PUBMED/MEDLINE and APA PsyNET. The PRISMA recommendations were used for this review. After applying the inclusion/exclusion criteria, five articles were retrieved and analyzed. The two types of instruments: monitoring and screening, were presented in three study categories: 1) descriptive 2) viability/usability 3) validity. Further studies are needed to assess the impact and effectiveness of the use of mobile format instruments for the monitoring and screening for childhood developmental delays. (AU)

Este estudio es una revisión de la literatura desarrollada para investigar el uso de instrumentos de vigilancia y rastreo del retraso del desarrollo infantil a través de la tecnología móvil. Asimismo, el objetivo fue caracterizar las metodologías utilizadas, muestras de participantes, ya sean clínicas o no; además del contexto de investigación y la finalidad del uso del instrumento. Tres jueces realizaron una búsqueda de artículos en las bases de datos indexadas en la BVS, PUBMED/MEDLINE y APA PsyNET. Las recomendaciones de PRISMA se utilizaron para esta revisión. Según los criterios de inclusión/exclusión, cinco artículos fueron recuperados y analizados. Los dos tipos de instrumentos fueron: vigilancia y detección, se presentaron en tres categorías de estudio: 1) descriptivo 2) viabilidad/usabilidad 3) validez. Se concluyó que son necesarios más estudios, especialmente para evaluar el impacto y la efectividad del uso de instrumentos de vigilancia y rastreo del retraso en el desarrollo infantil en formato de tecnología móvil. (AU)

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.

Exploração qualitativa do itinerário terapêutico de crianças com deficiência física na Nigéria usando análise de conteúdo temática / Exploración cualitativa del itinerario terapéutico de niños con discapacidades físicas en Nigeria utilizando análisis de contenido temático / Qualitative exploration into therapeutic itinerary of children with physical disabilities in Nigeria using thematic content analysis

Resumo Objetivo Explorar o itinerário terapêutico na busca de cuidados para crianças com deficiências físicas pelos cuidadores. Métodos Um plano qualitativo descritivo que recrutou nove cuidadores de crianças com deficiência física, com consentimento, que frequentavam um Hospital Universitário Nigeriano. Foi utilizado um guia de entrevista semi-estruturado para coletar dados sobre o itinerário terapêutico, que foi definido como os caminhos percorridos pelos indivíduos para resolver o seu problema de saúde. As entrevistas foram gravadas em áudio e transcritas literalmente. Os dados foram analisados utilizando a análise do conteúdo temático. Resultados os temas emergentes revelaram que os cuidadores iniciaram o itinerário terapêutico para os respetivos filhos após a observação de quaisquer deficiências que vão para além de doenças casuais. A falta de capacidade dos hospitais privados, que servem como ponto inicial de entrada na busca de cuidados, encorajou a procura por cuidados nos hospitais públicos, lares espirituais, e clínicas tradicionais. A entrada na fisioterapia dependia de auto-referências, referências por parentes e médicos. Cuidar de crianças com deficiência física prejudicou de modo significativo a vida social, as finanças, o trabalho do cuidador; e expectativas não alcançadas de que a criança melhorasse o mais cedo possível encorajaram um pluralismo contínuo. Conclusão e implicações para a prática O fato de ter crianças com deficiências e de ter havido atraso nos progressos levou os cuidadores a práticas múltiplas e complexas na busca de cuidados de saúde.

Resumen Objetivo Explorar el itinerario terapéutico para la búsqueda de cuidado de niños con discapacidad física por parte de los cuidadores. Métodos Un diseño cualitativo descriptivo que recluta a nueve cuidadores de niños con discapacidades físicas que asisten a un hospital universitario de Nigeria. Se utilizó una guía de entrevista semiestructurada para recopilar datos sobre el itinerario terapéutico que se definió como los caminos que recorren los individuos para abordar su problema de salud. Las entrevistas fueron grabadas en audio y transcritas textualmente. Los datos se analizaron mediante análisis de contenido temático. Resultados Los temas emergentes revelaron que los cuidadores iniciaron un itinerario terapéutico para sus hijos al observar cualquier impedimento que vaya más allá de las enfermedades casuales. La falta de capacidad en los hospitales privados, que sirve como punto inicial de entrada en la búsqueda de atención, fomenta la vacilación en los hospitales públicos, hogares espirituales y clínicas tradicionales. La entrada en fisioterapia dependía de las autorremisiones, las derivaciones de familiares y médicos. El cuidado de niños con discapacidad física afectó significativamente la vida social, las finanzas y el trabajo del cuidador; y las expectativas no satisfechas de que un niño se recupere lo antes posible fomentaron el pluralismo continuo. Conclusión e implicaciones para la práctica El hecho de que los niños presentaran discapacidades e hitos retrasados condujo a múltiples prácticas complejas de búsqueda de atención médica entre los cuidadores. Por lo tanto, estos cuidadores se vuelven médicos pluralistas y encubiertamente no se adhieren a las prescripciones de tratamiento hospitalario.

Abstract Objective To explore the therapeutic itinerary for seeking care for children with physical disabilities by caregivers. Methods A descriptive qualitative design recruiting nine consenting caregivers of children with physical disabilities attending a Nigerian Teaching Hospital. A semi-structured interview guide was used to collect data on therapeutic itinerary which was defined as the paths taken by individuals to address their health problem. Interviews were audio-recorded and transcribed verbatim. Data was analyzed using thematic content analysis. Results Emerging themes revealed that caregivers commenced therapeutic itinerary for their children upon observation of any impairments that go beyond casual illnesses. Lack of capacity in private hospitals, which serves as initial point of entry into care seeking, encourage vacillation into public hospitals, spiritual homes, and traditional clinics. Entry into physiotherapy was dependent on self-referrals, referrals by relatives, and physicians. Caring for children with physical disability significantly affected caregiver's social life, finances, work; and unmet expectations for a child to get well as soon as possible encouraged continuous pluralism. Conclusion and implications for the practice Having children presenting with impairments and delayed milestones led to complex multiple health care seeking practices among caregivers. Thus, these caregivers become medical pluralists and covertly non-adherent to hospital treatment prescriptions.

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.