¿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)

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.

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

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

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

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

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

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

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

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

Notas sobre o pesquisar em cena(s) / Notes on researching in scenes / Notas sobre la investigación en escena(s)

O presente artigo tem como objetivo apresentar a construção metodológica desenvolvida em uma pesquisa de mestrado, na qual sustentamos a escrita de cenas como método de pesquisa da escuta clínica. As cenas do trabalho em questão foram recolhidas ao longo do tempo, no contorno da experiência de um projeto de extensão universitária de atenção à infância e adolescência em situação de vulnerabilidade social, situado em uma comunidade periférica. Apresentamos, neste texto, as interrogações que se elaboraram em torno da escolha pelo trabalho com cenas, e compartilhamos o resgate histórico dessas como um método de escrever a clínica, bem como a retomada de sua análise a partir da tradição psicanalítica. Amparadas nesta teoria e em leituras e contribuições do filósofo francês Jacques Derrida, embasamos a noção de que a cena se constitui como um lugar de produção, ao engendrar a configuração particular de elementos significantes nos processos de subjetivação e de construção social. A cena não é, então, compreendida aqui como uma representação do que acontece na clínica, mas como um modo de produzir a escuta e os seus processos de investigação.(AU)

This article aims to present the methodological construction developed in a master's research, in which the writing of scenes as a method of clinical listening research was endorsed. The scenes from the study in question were collected over time, from the experience gained in a project conducted within a university extension program on care in childhood and adolescence in social vulnerability, in a peripheral community. In this study, we present some questions that were elaborated surrounding the choices of working with scenes; and we share the historical rescue of this work as a method of writing on clinic practices and resuming their analysis from the psychoanalytic tradition. Based on the psychoanalytic theory and on the readings and contributions of the French philosopher Jacques Derrida, we corroborate the notion that the scene is constituted as a place of production, engendering the particular configuration of significant elements in the processes of subjectivation and social construction. Here, the scene is not a representation of clinical practice but one mode of producing listening and its research processes.(AU)

Este artículo tiene como objetivo presentar la construcción metodológica desarrollada en una investigación de maestría, en la que sostenemos la escritura de escenas como método de investigación de la escucha clínica. Las escenas del trabajo en cuestión se recogieron a lo largo del tiempo desde la experiencia en un proyecto de extensión universitario de atención a la niñez y adolescencia en situación de vulnerabilidad social aplicado en una comunidad periférica. En este texto, presentamos los interrogantes que se elaboraron en torno a la elección por el trabajo con escenas y compartimos el rescate histórico de las mismas como un método de escribir la clínica y la reanudación del análisis a partir de la tradición psicoanalítica. Amparadas en el psicoanálisis y en lecturas y contribuciones del filósofo francés Jacques Derrida, nos basaremos en la noción de que la escena se constituye como un lugar de producción, engendrando la configuración particular de elementos significantes en los procesos de subjetivación y de construcción social. La escena no es aquí una representación de lo que pasa en la clínica, sino un modo de producir escucha y sus procesos de investigación.(AU)

Application of copy number variation sequencing in patients with intellectual disability/developmental delay and autistic spectrum disorder / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with intellectual disability (ID), developmental delay (DD), and autistic spectrum disorder (ASD).@*METHODS@#Forty patients with ID/DD/ASD referred to Nanshan Maternity and Child Health Care Hospital from September 2018 to January 2022 were enrolled. G-banded karyotyping analysis was carried out for the patients. Genomic DNA was extracted from peripheral blood samples and subjected to CNV-Seq analysis to detect chromosome copy number variations (CNVs) in such patients. ClinVar, DECIPHER, OMIM and other database were searched for data annotation.@*RESULTS@#Among the 40 patients (including 30 males and 10 females), 16, 15 and 6 were diagnosed with ID, DD and ASD, respectively. One patient had combined symptoms of ID and DD, whilst the remaining two had combined ID and ASD. Four patients were found with abnormal karyotypes, including 47,XY,+mar, 46,XY,inv(8)(p11.2q21.2), 46,XX,del(5)(p14) and 46,XX[76]/46,X,dup(X)(p21.1q12). Chromosome polymorphism was also found in two other patients. CNV-seq analysis has detected 32 CNVs in 20 patients (50.0%, 20/40). Pathogenic CNVs were found in 10 patients (25.0%), 15 CNVs of uncertain clinical significance were found in 12 patients (30.0%), and 7 likely benign CNVs were found in 4 patients (10.0%).@*CONCLUSION@#Chromosome CNVs play an important role in the pathogenesis of ID/DD/ASD. CNV-seq can detect chromosomal abnormalities including microdeletions and microduplications, which could provide a powerful tool for revealing the genetic etiology of ID/DD/ASD patients.

Clinical and genetic analysis of a child with Schaaf-Yang syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology of a child with Schaaf-Yang syndrome (SYS).@*METHODS@#Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing. Sanger sequencing was used for family constellation verification, and bioinformatic analysis was performed for the candidate variant.@*RESULTS@#The child, a 1-year-and-9-month-old boy, had clinical manifestations of retarded growth, small penis, and unusual facies. Genetic testing revealed that the child has harbored a novel heterozygous variant of c.3078dupG (p.Leu1027Valfs*28) of the MAGEL2 gene. Sanger sequencing showed that neither parent of the child carried the same variant. The c.3078dupG(p.Leu1027Valfs*28) variant of the MAGEL2 gene has not been included in the databases of ESP, 1000 Genomes and ExAC. According to the Standards and Guidelines for the Interpretation of Sequence Variants of the American College of Medical Genetics and Genomics (ACMG), the variant was judged to be pathogenic.@*CONCLUSION@#The c.3078dupG (p.Leu1027Valfs*28) variant of the MAGEL2 gene probably underlay the SYS in this child, which has further expanded the spectrum of the MAGEL2 gene variants.

Genetic analysis of two children with developmental delay and intellectual disability / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic etiology of two patients with developmental delay and intellectual disability.@*METHODS@#Two children who were respectively admitted to Henan Provincial People's Hospital on August 29, 2021 and August 5, 2019 were selected as the study subjects. Clinical data were collected, and array comparative genomic hybridization (aCGH) was carried out on the children and their parents for the detection of chromosomal microduplication/microdeletions.@*RESULTS@#Patient 1 was a 2-year-and-10-month female and patient 2 was a 3-year-old female. Both children had featured developmental delay, intellectual disability, and abnormal findings on cranial MRI. aCGH revealed that patient 1 has harbored arr[hg19] 6q14.2q15(84621837_90815662)×1, a 6.19 Mb deletion at 6q14.2q15, which encompassed ZNF292, the pathogenic gene for Autosomal dominant intellectual developmental disorder 64. Patient 2 has harbored arr[hg19] 22q13.31q13.33(46294326_51178264)×1, a 4.88 Mb deletion at 22q13.31q13.33 encompassing the SHANK3 gene, haploinsufficiency of which can lead to Phelan-McDermid syndrome. Both deletions were classified as pathogenic CNVs based on the guidelines of American College of Medical Genetics and Genomics (ACMG) and were not found in their parents.@*CONCLUSION@#The 6q14.2q15 deletion and 22q13-31q13.33 deletion probably underlay the developmental delay and intellectual disability in the two children, respectively. Haploinsufficiency of the ZNF292 gene may account for the key clinical features of the 6q14.2q15 deletion.

Identification of a NONO gene variant in a child with congenital heart disease and global developmental delay / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with congenital heart disease (CHD) and global developmental delay (GDD).@*METHODS@#A child who was hospitalized at the Department of Cardiac Surgery of Fujian Children's Hospital on April 27, 2022 was selected as the study subject. Clinical data of the child was collected. Umbilical cord blood sample of the child and peripheral blood samples of his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 3-year-and-3-month-old boy, had manifested cardiac abnormalities and developmental delay. WES revealed that he had harbored a nonsense variant of c.457C>T (p.Arg153*) in the NONO gene. Sanger sequencing showed that neither of his parents has carried the same variant. The variant has been recorded by the OMIM, ClinVar and HGMD databases, but not in the normal population databases of 1000 Genomes, dbSNP and gnomAD. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as a pathogenic variant.@*CONCLUSION@#The c.457C>T (p.Arg153*) variant of the NONO gene probably underlay the CHD and GDD in this child. Above finding has expanded the phenotypic spectrum of the NONO gene and provided a reference for the clinical diagnosis and genetic counseling for this family.

Clinical characteristics and genetic analysis of two children with Autosomal dominant mental retardation type 21 due to variants of CTCF gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of two children with developmental delay.@*METHODS@#Two children who had presented at the Children's Hospital Affiliated to Shandong University on August 18, 2021 were enrolled as the study subjects. Clinical and laboratory examination, chromosomal karyotyping and high-throughput sequencing were carried out for both children.@*RESULTS@#Both children had a 46,XX karyotype. High-throughput sequencing showed that they have respectively carried a c.489delG (p.Q165Rfs*14) and a c.1157_1158delAT (p.Y386Cfs*22) frameshifting variant of the CTCF gene, both had a de novo origin and were unreported previously.@*CONCLUSION@#The CTCF gene variants probably underlay the development delay in the two children. Above discovery has enriched the mutational spectrum of the CTCF gene and has important implications for revealing the genotype-phenotype correlation for similar patients.

Clinical and genetic analysis of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic etiology of two children with intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia (MICPCH).@*METHODS@#Two children with MICPCH who were presented at the Henan Provincial People's Hospital between April 2019 and December 2021 were selected as the study subjects. Clinical data of the two children were collected, along with peripheral venous blood samples of them and their parents, and amniotic fluid sample of the mother of child 1. Whole exome sequencing (WES), array-comparative genomic hybridization (aCGH) and real-time quantitative PCR (qPCR) were carried out for the children, their parents and the fetus. The pathogenicity of candidate variants were evaluated.@*RESULTS@#Child 1 was a 6-year-old girl featuring motor and language delay, whilst child 2 was a 4.5-year-old girl mainly featuring microcephaly and mental retardation. WES revealed that child 2 has harbored a 158.7 kb duplication in Xp11.4 (chrX: 41446160_41604854), which has encompassed exons 4~14 of the CASK gene. The same duplication was not found in either of her parents. aCGH revealed that child 1 has harbored a 29 kb deletion at Xp11.4 (chrX: 41637892_41666665), which encompassed exon 3 of the CASK gene. The same deletion was not found in either of her parents and the fetus. The above results were confirmed by qPCR assay. Above deletion and duplication were not found in the ExAC, 1000 Genomes and gnomAD databases. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PS2+PM2_Supporting).@*CONCLUSION@#The deletion of exon 3 and duplication of exons 4~14 of the CASK gene probably underlay the pathogenesis of MICPCH in these two children, respectively.

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.

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)

Competencias narrativas escritas en niños con trastornos del desarrollo / Narrative in children with developmental disorders

RESUMEN INTRODUCCIÓN: Los aspectos narrativos del lenguaje constituyen una competencia en el desarrollo funcional de la comunicación, la cual predice el desempeño académico de los niños. En este trabajo se estudia la narrativa en niños con trastornos del desarrollo, a fin de hacer diagnósticos precoces y adoptar mejores estrategias terapéuticas. MATERIAL Y MÉTODO: Estudio controlado analítico de corte transversal. Se incluyen sujetos de 9 a 17 años, evaluados con la prueba de teoría de la mente (TOM) de Sally y Anne, quienes luego deben narrar la historia de la prueba. Se evaluó el número total de palabras (TP), la cantidad total de oraciones (TO), el promedio de palabras por oración (PPO), la sintaxis (S) y la capacidad expresar la idea central del relato (ICR). RESULTADOS: Participaron 61 sujetos. El grupo 1 o control con 24, el grupo 2 con 37 sujetos (con diagnóstico de trastorno por déficit de atención (TDA), trastorno de la lectoescritura (TLE), trastorno del espectro autista (TEA) y discapacidad intelectual (DI)). En teoría de la mente respondieron correctamente 18 participantes del grupo 1, 7 participantes con TDA, 4 de los TLE, 5 sujetos con DI y 3 sujetos con TEA. Los sujetos del grupo 2 presentaron distintos grados de dificultades narrativas según el trastorno. A mayor edad utilizaron mayor cantidad de palabras, sin distinción por sexo. CONCLUSIÓN: Es importante estudiar los aspectos narrativos del lenguaje en pediatría puesto que las habilidades requeridas incluyen aspectos estructurales del lenguaje y habilidades cognitivas que es necesario tener en cuenta para definir estrategias terapéuticas más precisas y acordes a las necesidades de este grupo de pacientes.

ABSTRACT INTRODUCTION: Narrative is a competence in the functional development of communication that predicts academic performance in children. We studied narrative in children with developmental disorders in order to develop better therapeutic strategies. METHODS: Cross-sectional analytical controlled study. We included subjects age 9 to 17 years old, evaluated with the Mind Theory Test (TOM) of Sally and Anne in which they have to repeat a story. We evaluated total number of words (TP), total number of sentences (TO), average words per sentence (PPO), syntax (S) and ability to express the central idea of the story (ICR). RESULTS: We included 61 subjects in two groups. Group 1 or control with 24, Group 2 with 37 subjects (with a diagnosis of attention deficit disorder (ADD), literacy disorder (TLE), autistic spectrum disorder (ASD), intellectual disability (ID)). TOM 3 was correctly answered by 18 subjects of Group 1, 7 of ADD, 4 of the TLE, 5 of the ID and 3 participants with TEA. The Group 2 presented different degrees of narrative difficulties. All children said more words when they grew up without distinction by gender. DISCUSSION: Children with developmental disorders present a lower performance in narrative aspects depending of the disorder, which allows to carry out therapeutic strategies according to their needs.

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)

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.

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.

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

Avaliação do neurodesenvolvimento de crianças com e sem exposição intrauterina ao vírus zika assintomáticas ao nascimento / Neurodevelopmental assessment of children with and without intrauterine exposure to Zika virus who are asymptomatic at birth

Introdução: a exposição intrauterina ao vírus Zika (ZIKV) pode causar atrasos no neurodesenvolvimento das crianças nascidas com ou sem sintomas da Síndrome Congênita da Zika. Entretanto poucos estudos têm comparado o neurodesenvolvimento entre as crianças com exposição intrauterina ao ZIKV nascidas aparentemente assintomáticas e crianças sem exposição. Objetivo: avaliaro efeito da exposição intrauterina ao ZIKV sobre o neurodesenvolvimento de crianças assintomáticas. Método: estudo transversal aninhado numa coorteprospectiva em andamento (coorte Rio de Janeiro) de crianças nascidas durante a epidemia de Zika no Brasil que avaliou e comparou o escore composto de crianças expostas e não expostas ao ZIKV testadas pela Escala Bayley de desenvolvimento de lactentes e pré escolares - terceira edição-Bayley III. Resultados: foram avaliadas 143 crianças de 11 a 39 meses de idade incluindo 65 com exposição ao ZIKV e 72 sem exposição. Sessenta crianças (42%) apresentaram alteração do desenvolvimento em pelo menos um domínio, porém em relação aos controles não expostos, as crianças com exposição ao ZIKV não apresentaram diferenças significativas no resultado da avaliação nos domínios cognitivo, linguagem e motor. Nesse estudo o atraso mais frequente encontrado em ambos os grupos foi nalinguagem (28%).Conclusão: esses achados combinados com o fato que as crianças nascidas durante a epidemia ainda estão na idade pré-escolar reforçam a importância de se seguir acompanhando seu neurodesenvolvimento até a idade escolar uma vez que ainda não se tem conhecimento bastante sobre manifestações de atrasos tardios que podem não ser evidenciados nos primeiros anos de vida.

Background: Intrauterine exposure to Zika virus (ZIKV) has been hypothesized to cause neurodevelopmental delays among children born with and without apparent symptoms for Congenital Zika Syndrome. However, few studies have compared neurodevelopment between the intrauterine ZIKV-exposed but apparently asymptomatic children and ZIKV-unexposed children. Objective: To assess the effect of intrauterine exposure to ZIKV on neurodevelopment of asymptomatic children. Method: A cross-sectional study including children followed-up as a part of an ongoing prospective cohort (Rio de Janeiro cohort) born during the ZIKV epidemicin Brazil that evaluated and compared the composite score results of exposed and no-exposed children tested by the Bayley Scales of Infant and Toddler Development 3rd edition Bayley III. Results: 143 children aged 11 to 39 months were evaluated including 65 with intrauterine exposition to ZIKV and 72 controls no exposed. Sixty children (42%) were delayed in at least one developmental domain but regarding to the controls the children with intrauterine exposition to ZIKV did not present significant differences in the result of the evaluation in the assessment of cognitive, language and motor domains. In this study, the most frequent delay in both groups was in language (28%). Conclusion: These findings combined with the knowledge that children born during the epidemic are still at preschool age reinforce the importance of continued follow-up at the school ages since there is still not enough knowledge about late onset manifestations that are not noticeable in the first years of life.