Revisión narrativa del modelo de desarrollo positivo para adultos emergentes chilenos / A narrative review of the positive development model for Chilean emerging adults / Revisão narrativa do modelo de desenvolvimento positivo para adultos emergentes chilenos

Introducción: El desarrollo positivo es un estadio de ajuste psicosocial que acentúa las potencialidades y los recursos entre jóvenes y sus contextos próximos. En Australia, se desarrolló el primer modelo de desarrollo positivo para adultos emergentes, el cual consta de cinco componentes (competencia social, satisfacción con la vida, confianza y tolerancia con los otros, confianza hacia autoridades e instituciones, acción y compromiso cívico), pero no ha sido investigado en Chile. Objetivo: Analizar la evidencia disponible en la literatura científica sobre los cinco componentes del modelo de desarrollo positivo en adultos emergentes universitarios de Chile. Materiales y métodos: Revisión narrativa de la literatura publicada entre 2013 y 2023, en bases de datos Web of Science, Scopus, SciELO, Redalyc y Dialnet. Resultados: Se obtuvieron 83 artículos, de los cuales 53 cumplieron los requisitos de inclusión; en su mayor parte fueron estudios cuantitativos (81,13%) y en español (75,47%). Se evidenció una disparidad en la cantidad de estudios por temática; se encuentra mayor investigación en satisfacción con la vida y acción y compromiso cívico. Conclusiones: Existen brechas en la literatura científica chilena en el estudio del desarrollo positivo; además de que se discuten particularidades idiosincrásicas y desafíos asociados a la etapa de adultez emergente.

Introduction: Positive development is a stage of psychosocial adjustment that accentuates the potentials and resources of young people and their close contexts. The first positive development model for emerging adulthood was developed in Australia, which includes five components: social; life satisfaction; trust and tolerance of others; trust in the authorities and institutions; and action and civic engagement. However, this model has not been investigated in Chile. Objective: To analyze the evidence available in the scientific literature on the five components of the positive development model in emerging adults universities. Materials and methods: A narrative review of the literature published between 2013 and 2023 in the Web of Science, Scopus, SciELO, Redalyc, and Dialnet databases was conducted. Results: 83 articles were selected, of which 53 met the inclusion criteria; most of them were qualitative studies (81.13%) and in Spanish (75.47%). There is an evident disparity in terms of the number of studies and topics, e.g., there is more research on life satisfaction and civic action and commitment. Conclusions: There are gaps in the Chilean scientific literature in the study of positive development. In addition, idiosyncratic particularities and challenges associated with the stages of emerging adulthood are discussed.

Introdução: O desenvolvimento positivo é uma fase de ajustamento psicossocial que acentua o potencial e os recursos dos jovens e dos seus contextos imediatos. Na Austrália, foi desenvolvido o primeiro modelo de desenvolvimento positivo para adultos emergentes, que consiste em cinco componentes (social, satisfação com a vida, confiança e tolerância com os outros, confiança nas autoridades e instituições, ação e envolvimento cívico), mas ainda não foi investigado no Chile. Objetivo: Analisar as evidências disponíveis na literatura científica sobre os cinco componentes do modelo de desenvolvimento positivo em adultos universitários emergentes no Chile. Materiais e métodos: Revisão narrativa da literatura publicada entre 2013 e 2023, nas bases de dados Web of Science, Scopus, SciELO, Redalyc e Dialnet. Resultados: foram obtidos 83 artigos, dos quais 53 atenderam aos requisitos de inclusão; A maioria deles eram estudos quantitativos (81,13%) e em espanhol (75,47%). Ficou evidente uma disparidade no número de estudos por tema; Há mais pesquisas sobre satisfação com a vida e ação e compromisso cívico. Conclusões: Existem lacunas na literatura científica chilena no estudo do desenvolvimento positivo; Além disso, são discutidas particularidades e desafios idiossincráticos associados à fase da idade adulta emergente.

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

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

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

Effects of prolonged waiting time on visual outcomes of patients with pediatric cataract in a Tertiary Public Hospital

Background@#Pediatric cataract is one of the most common preventable cause of childhood blindness worldwide. Early and timely intervention of pediatric cataract is important to maximize the visual outcomes and start prompt visual rehabilitation.@*Objectives@#This study aimed to determine the average time from the day of initial consult at the outpatient clinic to the day of the cataract surgery and compare the effects of delayed surgery on visual outcomes of patients.@*Methods@#This is a retrospective chart review of medical records from January 2015 to June 2022. The dates of the different steps in the process up to the day of intervention were noted and the average interval duration and the total waiting time were determined. Patients operated on within 2 weeks from initial consult was defined as no delay while those operated >2 weeks had delayed surgery. Pre-operative and post-operative best corrected log MAR visual acuity were compared within each group to determine if delay in surgical intervention has a significant effect on the visual outcomes of patients.@*Results@#Median age at initial consult was 4.9 years while median age at surgery was 5.2 years. Ninety-nine (99) patients had developmental cataract and 123 patients had bilateral cataract. Leukocoria was the most common chief complaint (63.45%). Pre-operatively, 94 patients had strabismus, 49 had eye preference, 48 had nystagmus, and 43 had amblyopia in the diagnosis. There was significantly faster admission to cataract surgery during the pandemic compared to pre-pandemic period but there was no difference in the total waiting time. Patients with congenital cataract had the least total waiting time followed by developmental, and rubella cataract. There is no significant difference in visual outcomes between patients operated without delay and with delay.@*Conclusion@#There is delayed age at diagnosis and surgery of pediatric cataract patients in the Philippine General Hospital. Early surgery did not reflect better visual outcomes compared to delayed surgery probably due to delay in consultation of patients.

Eye diseases associated with developmental abnormality of neural crest / 国际眼科杂志(Guoji Yanke Zazhi)

The neural crest represents a dynamic population of embryonic stem cells, playing a pivotal role in the development of the eye. Through interactions with the surrounding neuroectoderm, superficial ectoderm and mesoderm, the neural crest contributes to the formation of numerous ocular structures, encompassing the corneal stroma and endothelium, trabecular meshwork, iris stroma, ciliary muscle, vitreous and choroidal vessels, and Müller cells. Aberrant migration and development of neural crest cells within the eye can instigate a complex series of ocular diseases. Such diseases include anterior segment like Axenfeld-Rieger syndrome, Peters anomaly, aniridia, primary congenital glaucoma, and Nail-Patella syndrome. Defects that impact the posterior segment may lead to CHARGE syndrome and Branchio-oculo-facial syndrome. Further, rare neurocristopathies such as Waardenburg syndrome, Treacher-Collins syndrome, and Char syndrome can also present with ocular abnormalities. In this review, we explore the ocular diseases that arise from abnormal neural crest cell development, and delve into the related genes involved in neural crest migration and development. We further discuss how mutations and defects in these genes can precipitate ocular diseases.

Subtipos de Dislexia do Desenvolvimento Descritos no Português Brasileiro: Uma Revisão Integrativa / Developmental Dyslexia Subtypes Described in Brazilian Portuguese: An Integrative Review / Subtipos de Dislexia del Desarrollo Descritos en Portugués Brasileño: Una Revisión Integradora

A heterogeneidade na dislexia do desenvolvimento pode ser compreendida por meio dos subtipos de dislexia do desenvolvimento (SDD), porém não foram encontrados estudos que avaliassem a literatura brasileira sobre SDD. A presente revisão buscou responder quais SDD foram identificados no português brasileiro. Foram incluídos estudos empíricos, em inglês ou português, que descrevessem ao menos um SDD, bem como critérios diagnósticos, com participantes brasileiros. As buscas foram realizadas nas bases Scielo, Pubmed e Google Scholar. Como resultado, foram encontrados 11 estudos referentes a seis SDD, sendo as dislexias fonológicas e de superfície as mais presentes, e foram descritas as definições, critérios de identificação e instrumentos de avaliação utilizados em cada estudo. Foi discutida a heterogeneidade de definições, critérios de identificação e instrumentos de avaliação encontrados. Destacam-se o pequeno número de relatos em comparação com a literatura internacional e a necessidade de tarefas padronizadas, validadas e sensíveis aos SDD no português brasileiro.(AU)

The present review aimed to explore the subtypes of developmental dyslexia (SDD), identified in the Brazilian literature, considering the heterogeneity in developmental dyslexia. This review included empirical studies in English or Portuguese, involving Brazilian students, and describing at least one SDD, along with diagnostic criteria. Searches were conducted in the Scielo, Pubmed and Google Scholar databases. The review identified 11 studies, which covered six different SDD. Phonological and surface dyslexia were the most commonly reported subtypes. The review discussed the variations in definitions, identification criteria, and evaluation instruments used in these studies. It also highlighted the limited number of reports in the Brazilian literature compared to international sources and emphasized the need for standardized, validated tasks in Brazilian Portuguese that are SDD-sensitive.(AU)

La heterogeneidad en la dislexia del desarrollo puede comprenderse a través de los subtipos de dislexia del desarrollo (SDD), pero no se encontraron estudios que evalúen la literatura brasileña sobre SDD. Esta revisión buscó responder cuáles los SDD se han identificado en el portugués brasileño. Se incluyeron estudios empíricos con participantes brasileños en inglés o portugués que describieran al menos un SDD y sus criterios de diagnósticos. Las búsquedas se realizaron en las bases de datos Scielo, Pubmed y Google Scholar. Como resultado, se encontraron 11 estudios relacionados con seis SDD, siendo las dislexias fonológicas y de superficie las más comunes, y se describieron las definiciones, criterios de identificación e instrumentos de evaluación utilizados en cada estudio. Se discutió la heterogeneidad de definiciones, criterios de identificación y herramientas de evaluación encontradas. Se destaca el escaso número de informes en comparación con la literatura internacional y la necesidad de tareas estandarizadas, validadas y sensibles a SDD en el portugués brasileño.(AU)

¿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)

Evaluación del neurodesarrollo en niños con exposición intrauterina al virus del Zika: estudio observacional transversal / Developmental assessment of children with intrauterine exposure to Zika virus: cross-sectional observational study

El virus del Zika produce desenlaces adversos para el desarrollo del sistema nervioso. Este estudio describe el neurodesarrollo cognitivo, adaptativo, comunicativo, social y motor de niños expuestos intrauterinamente al virus del Zika y hace una evaluación del neurodesarrollo con la escala de Battelle a los tres años después del nacimiento. Participaron 30 niños con una media de edad al momento de la evaluación de 37,5 (RIC: 35,7-39,2) meses. Se halló una edad equivalente en meses en las áreas: motora 25,8 (DE: 7,8), adaptativa 26,7 (DE: 5,8), comunicativa 30,2 (DE: 6,9), personal social 33,5 (DE: 8,3) y cognitiva 35,6 (DE: 5,9). Los niños presentaron retraso en el desarrollo para la edad cronológica, 25 niños presentaban retraso en una de las cinco áreas evaluadas. Una alta proporción de niños expuestos al virus del Zika durante la gestación presentaron retraso en el desarrollo, principalmente en el dominio adaptativo y motor.

Zika virus infection affects the development of the nervous system. This study describes the cognitive, adaptative, communicative, social and motor neurodevelopment of children exposed to Zika virus in utero. We used the Batelle scale to assess neurodevelopment three years after birth. Thirty children were included, who had a mean age at evaluation of 37.5 (IQR: 35.7-39.2) months. We found the following equivalent ages in months for each area: motor 25.8 (SD: 7.8), adaptive 26.7 (SD: 5.8), communicative 30.2 (SD: 6.9), social personal 33.5 (SD: 8.3) and cognitive 35.6 (SD: 5.9). Children showed development delay for their chronological age, 25 children were delayed in one of the five areas assessed. A high rate of children exposed to Zika virus during gestation presented delayed developmental age, mainly regarding the adaptive and motor areas.

Dinâmica Relacional das Redes Sociais Significativas de Mães de Filhos com Transtorno do Espectro Autista / Relational Dynamics of Meaningful Social Networks of Mothers of Children with Autism Spectrum Disorder / Dinámica Relacional de Redes Sociales Significativas de Madres de Niños con Trastorno del Espectro Autista

O diagnóstico de um filho com Transtorno do Espectro Autista se configura como evento estressor para a família, especialmente para as mães, podendo trazer implicações relacionais, sociais e emocionais para estas. Este estudo buscou compreender as repercussões do diagnóstico de TEA na dinâmica relacional das redes sociais significativas maternas. Trata-se de estudo qualitativo, descritivo e exploratório, do qual participaram 12 mães de filhos com TEA. Os dados foram coletados através de entrevistas reflexivas e do mapa de redes sociais significativas, analisados por meio da Teoria Fundamentada nos Dados. Identificou-se uma diminuição do número de vínculos nas redes sociais significativas das participantes após o diagnóstico do filho. Nas relações familiares, houve aumento de vínculos, embora as mães não se sentissem suficientemente apoiadas; nas relações extrafamiliares, houve diminuição de membros, mas observou-se a presença de apoio satisfatório entre alguns vínculos situados nesse contexto. Conclui-se que, para que a rede possa ser efetiva no oferecimento de apoio social, é preciso conjugar a disponibilidade materna para receber apoio e o preparo dos membros das redes sociais para manejar as especificidades do TEA. Assim, sugere-se maior investimento na instrumentalização das redes sociais significativas para acolhimento do processo vivenciado por mães de filhos com TEA.

The diagnosis of a child with Autism Spectrum Disorder is configured as a stressful event for the family, especially for mothers, and may have relational, social and emotional implications for them. This study aimed to understand the repercussions of ASD diagnosis on the relational dynamics of significant maternal social networks. This is a qualitative, descriptive and exploratory study, in which 12 mothers of children with ASD participated. Data were collected through reflective interviews and the significant social networks map, analyzed using Grounded Theory. A decrease in the number of members in the participants' significant social networks was identified after their child's diagnosis. In family relationships, there was an increase in members, although the mothers did not feel sufficiently supported; there was a decrease in the number of members in extra-family relationships, but the presence of satisfactory support was observed in some members located in this context. It is concluded that, for the network to be effective in offering social support, it is necessary to combine maternal availability to receive support and preparation of social networks members to handle the specificities of the ASD. Thus, greater investment is suggested in the instrumentalization of significant social networks to nurse the process experienced by mothers of children with ASD.

El diagnóstico de un niño con Trastorno del Espectro Autista se configura como evento estresante para la familia, especialmente para madres, pudiendo tener implicaciones relacionales, sociales y emocionales para ellas. Este estudio buscó comprender las repercusiones del diagnóstico de TEA en la dinámica relacional de redes sociales significativas maternas. Se trata de un estudio cualitativo, descriptivo y exploratorio, en que participaron 12 madres de niños con TEA. Los datos fueron colectados mediante entrevistas reflexivas y mapa de redes sociales significativas, analizados utilizando Grounded Theory. Se identificó una disminución del número de miembros en las redes sociales significativas de las participantes después del diagnóstico del hijo. En las relaciones familiares, hubo aumento de miembros, aunque las madres no sintieron apoyo suficiente; en las relaciones extrafamiliares, hubo una disminución de miembros, pero se observó la presencia de apoyo satisfactorio entre algunos vínculos situados en este contexto. Se concluye que, para que la red sea efectiva en ofrecer apoyo social, es necesario combinar disponibilidad materna para recibir apoyo y preparación de los miembros de las redes sociales para manejar especificidades del TEA. Se sugiere una mayor instrumentalización de redes sociales significativas para acoger el proceso vivido por madres de niños con TEA.

Psicología del desarrollo en Colombia: pasado reciente y situación actual / Developmental Psychology in Colombia: Recent Past and Present Situation

Resumen El presente artículo analiza el estado actual de la psicología del desarrollo en Colombia. El punto de partida es la producción académica más significativa de los grupos de investigación, registrada en el Sistema Nacional de Ciencia y Tecnología de Colombia (ScienTI) en las últimas tres décadas. La revisión documental se organizó a partir de las principales áreas de trabajo identificadas: desarrollo en contextos de pobreza, desarrollo cognitivo, relaciones vinculares, desarrollo afectivo y emocional, desarrollo moral, psicología cultural del desarrollo y desarrollos atípicos. Se identificaron 44 grupos de investigación que aportan al campo de la psicología del desarrollo desde diferentes ámbitos teóricos, conceptuales y metodológicos. Cada uno de estos grupos brinda sus aportes desde diferentes regiones del país y en distintos segmentos de la población, en los que se destaca una preocupación por poblaciones en contextos de pobreza y violencia, respondiendo así a la situación del país. Algunos de esos estudios han contribuido a la identificación de factores protectores en poblaciones vulnerables y al fortalecimiento de bases seguras en familias, así como en la formulación de políticas públicas a favor de la niñez colombiana.

Abstract This paper analyzes the current state of developmental psychology in Colombia. The starting point is the most significant academic production of research groups, registered in the National System of Science and Technology of Colombia in the last three decades. The documentary review was organized according to the main areas of work identified: development in contexts of poverty, cognitive development, bonding relationships, affective and emotional development, moral development, cultural psychology of development and atypical developments. Forty-four research groups have been identified that contribute to the field of developmental psychology from different theoretical, conceptual, and methodological fields. Each of these groups provides their contributions from different regions of the country and in different segments of the population, in which a concern for populations in contexts of poverty and violence stands out, thus responding to the situation of the country. Some of these studies have contributed to the identification of protective factors in vulnerable populations and to the strengthening of safe bases in families, as well as to the formulation of public policies in favor of Colombian children.

Uso de psicofármacos en personas con discapacidad intelectual en Extremadura, España / Use of Psychotropic Drugs in People with Intellectual Disability in Extremadura, Spain

Resumen El uso de psicofármacos es frecuente en adultos con discapacidad intelectual, a menudo por conductas desafiantes en ausencia de diagnóstico de trastorno mental. Investigaciones previas cuestionan la eficacia de estos tratamientos a falta de una enfermedad psiquiátrica, y destacan sus efectos secundarios. El objetivo de esta investigación es analizar el uso de psicofármacos en función del diagnóstico de enfermedad mental y conducta desafiante, así como la distribución de la población según el uso de psicofármacos en 569 adultos con discapacidad intelectual que presentan enfermedad mental o conductas desafiantes. Los datos acerca de la elevada prescripción de psicofármacos y, especialmente, de antipsicóticos alertan sobre la necesidad de una profunda revisión de la práctica clínica que permita reducir el uso de esta medicación en el tratamiento de la conducta y los trastornos mentales en esta población, para garantizar una atención de calidad y el respeto de los derechos de estas personas.

Abstract The use of psychotropic drugs in adults with an intellectual disability is frequent, often for defiant conduct due to the lack of a diagnosis of a mental disorder. Previous research has questioned the efficacy of such treatments in the absence of a psychiatric illness, and the stress has been on the side effects. The objective of this research is to analyze the use of psychotropic drugs based on the diagnosis of mental illness and behavioral disorders, as well as the distribution of the sample according to the use of psychotropic drugs in 569 adults with an intellectual disability who also suffer a mental illness and/or defiant conduct. Our data about the high prescription of psychotropic drugs and especially antipsychotics, warns of the need for a profound review of the clinical practice that would allow a reduction in the use of psychotropic drugs in the treatment of mental disorders and behaviour in the said collective, so as to guarantee quality mental health care for these persons and respect for their rights.

Developmental delay assessment in children < 5 years of age attended in the Pediatric Rehabilitation Service of a reference hospital in Peru / Evaluación del retraso del desarrollo en niños < 5 años atendidos en el Servicio de Rehabilitación Pediátrica de un hospital de referencia en Perú

Abstract Background: Child development is a complex biological, psychological, and emotional process. Timely screening for developmental delay allows early interventions. Therefore, this study sought to assess the frequency and characteristics of developmental delay in children < 5 years of age who attended the Pediatric Rehabilitation Service of a referral hospital in Peru. Methods: We conducted a cross-sectional study. Information was collected from medical records of children < 5 years of age who attended between April and September 2022 at the Rebagliati Hospital's Pediatric Rehabilitation Service. The REBA-PED Child Developmental Assessment Profile was used for the developmental assessment, which allows to identify the degree of delay in each area (gross motor, fine motor, hearing and language, intelligence and learning, and personal-social) and the presence of warning signs. Results: Of 226 children who attended the service, 49.1% were between 3 and 5 years old, 57.1% were female, only 3.1% were referred for suspected developmental delay, and none had had a previous developmental assessment. Among the children evaluated, 12.4% had a simple developmental delay, 19.5% had a significant developmental delay, and 53.5% had a global developmental delay. In addition, 70.8% presented a warning sign of developmental delay. Hearing and language (86.8%) and intelligence and learning (83.5%) areas had a higher frequency of significant developmental delay. Conclusions: We found a high frequency of developmental delay in the children assessed, predominantly in hearing and language. Although all the children were referred, none had had a previous developmental assessment.

Resumen Introducción: El desarrollo infantil es un proceso complejo de cambios biológicos, psicológicos y emocionales. El despistaje oportuno del retraso del desarrollo permite implementar intervenciones tempranas. Este estudio buscó evaluar la frecuencia y las características del retraso del desarrollo en niños < 5 años atendidos en el Servicio de Rehabilitación Pediátrica de un hospital de referencia de Perú. Métodos: Se llevó a cabo un estudio transversal en el que se recolectó información de niños < 5 años atendidos entre abril y septiembre del 2022 en el Servicio de Rehabilitación Pediátrica del Hospital Rebagliati, para lo cual se revisaron sus historias clínicas. Para la evaluación del desarrollo, se utilizó el Perfil de Evaluación del Desarrollo Infantil REBA-PED, que permite reconocer el grado de retraso por área (motora gruesa, motora fina, audición y lenguaje, inteligencia y aprendizaje, y personal social) y los signos de alarma. Resultados: De 226 niños atendidos, el 49.1% tenía entre 3 a 5 años, el 57.1% era de sexo femenino, solo el 3.1% fue remitido por sospecha de retraso del desarrollo y ninguno había tenido una evaluación previa del desarrollo infantil. Entre los niños evaluados, el 12.4% presentó un retraso simple del desarrollo, el 19.5% presentó un retraso significativo y el 53.5%, un retraso global. Además, el 70.8% presentó algún signo de alarma durante el desarrollo infantil. La frecuencia de retraso significativo fue mayor en las áreas de audición y lenguaje (86.8%) y de inteligencia y aprendizaje (83.5%) tuvieron mayor frecuencia de retraso significativo. Conclusiones: Se encontró una frecuencia elevada de retraso del desarrollo entre los niños evaluados, con predominio del área de audición y lenguaje. Si bien todos los niños fueron referidos, ninguno había tenido una evaluación previa del desarrollo.

Fragile X Syndrome in children

Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities. The physical and neurologic manifestations of the disease appear early in life and may suggest the diagnosis. However, it must be confirmed by molecular tests. It affects multiple areas of daily living and greatly burdens the affected individuals and their families. Fragile X syndrome is the most common monogenic cause of intellectual disability and autism spectrum disorder; the diagnosis should be suspected in every patient with neurodevelopmental delay. Early interventions could improve the functional prognosis of patients with Fragile X syndrome, significantly impacting their quality of life and daily functioning. Therefore, healthcare for children with Fragile X syndrome should include a multidisciplinary approach.

El síndrome de X frágil es causado por la expansión de tripletas CGG en el gen FMR1, el cual genera cambios epigenéticos que silencian su expresión. La ausencia de la proteína codificada por este gen, la FMRP, causa disfunción celular, llevando a deficiencia en el desarrollo cerebral y anormalidades funcionales. Las manifestaciones físicas y neurológicas de la enfermedad aparecen en edades tempranas y pueden sugerir el diagnóstico. Sin embargo, este debe ser confirmado por pruebas moleculares. El síndrome afecta múltiples aspectos de la vida diaria y representa una alta carga para los individuos afectados y para sus familias. El síndrome de C frágil es la causa monogénica más común de discapacidad intelectual y trastornos del espectro autista; por ende, el diagnóstico debe sospecharse en todo paciente con retraso del neurodesarrollo. Intervenciones tempranas podrían mejorar el pronóstico funcional de pacientes con síndrome de X frágil, impactando significativamente su calidad de vida y funcionamiento. Por lo tanto, la atención en salud de niños con síndrome de X frágil debe incluir un abordaje multidisciplinario.

Quality of life and labor inclusion of people with disabilities

Introduction: Disability is a generic term that includes deficits, limitations in activity and restrictions in participation indicate the negative aspects of the interaction between an individual and its contextual factors, environmental and personal factors. Objective: The objective of this study was to identify the characteristics of labor inclusion and health-related quality of life of people with disabilities in a population group from the city of Neiva (Colombia). Materials and methods: Descriptive, analytical, cross-sectional study with quantitative approach and non-experimental design, in a sample of 64 people with disabilities. Demographic variables such as age, sex, marital status, education, socioeconomic status, link to the social security system in health, and type of disability were considered. The WHOQOL-BREF, 2004 quality of life scale was applied. Central tendency measures were also calculated with their dispersions and 95% confidence intervals in the continuous quantitative variables. Results: The most frequent disability was physical with 78.13%, followed by visual with 17.18%. The highest percentage of impairment of the quality of life concerning disability is given by the need to move from one place to another, to feel dissatisfaction with their sexual life and the perception of an unhealthy environment. Conclusions: The main factors for the labor inclusion of a person with a disability are subject to sex, the type of disability, access to decent employment, and remuneration according to their potentialities.

Causes of late-presenting developmental dislocation of the hip beyond 12 months of age: A pilot study

Background & objectives: Developmental dysplasia of the hip (DDH), when detected early, can usually be managed effectively by simple methods. A delayed diagnosis often makes it a complex condition to treat. Late presentation of DDH is fairly common in developing countries, and there is scarcity of literature regarding the epidemiology and reason for late presentation. Through this study, we attempted to identify the reasons for late presentation of DDH in children more than 12 months of age. Methods: Fifty four children with typical DDH and frank dislocation of hip in whom treatment was delayed for 12 months or more were included. Parents were interviewed with a pre-structured questionnaire and data were collected for analysis with Microsoft Excel 2016 and SPSS version 26. Results: Diagnostic delay was the most common reason for late presentation and was observed in 52 children (96.2%). The mean age at diagnosis was 24.7 months. The mean age at treatment was 37.3 months with a mean delay of 12.5 months from diagnosis and 22.1 months from initial suspicion. Physician-related factors contributed 55.3 per cent, while family and social issues accounted for 44.7 per cent of overall reasons for diagnostic and treatment delays. Interpretation & conclusions: Late presentation of DDH in walking age is common. Physician- and family-related factors accounted for most of these cases. Failure or inadequate hip screening at birth by the attending physician is a common reason for late diagnosis. The family members were unaware about the disorder and developed suspicion once child started walking with an abnormal gait

Ultrasound techniques for the detection of developmental dysplasia of the hip: a systematic review and meta-analysis

ABSTRACT BACKGROUND: Developmental dysplasia of the hip (DDH) encompasses a broad spectrum of hip pathologies, including femoral or acetabular dysplasia, hip instability, or both. According to the medical literature, ultrasonography is the most reliable diagnostic method for DDH. Several techniques for the assessment of hips in newborns and infants, using ultrasonography, have been described. OBJECTIVE: To compare the accuracy of the Graf technique and other diagnostic techniques for DDH. DESIGN AND SETTING: A systematic review of studies that analyzed ultrasound techniques for the diagnosis of DDH within an evidence-based health program of a federal university in São Paulo (SP), Brazil. METHODS: A systematic search of relevant literature was conducted in the PubMed, EMBASE, Cochrane Library, CINAHL, and LILACS databases for articles published up to May 5, 2020, relating to studies evaluating the diagnostic accuracy of different ultrasound techniques for diagnosing DDH. The QUADAS 2 tool was used for methodological quality evaluation. RESULTS: All hips were analyzed using the Graf method as a reference standard. The Morin technique had the highest rate of sensitivity, at 81.12-89.47%. The Suzuki and Stress tests showed 100% specificity. The Harcke technique showed a sensibility of 18.21% and specificity of 99.32%. CONCLUSION: All the techniques demonstrated at least one rate (sensibility and specificity) lower than 90.00% when compared to the Graf method. The Morin technique, as evaluated in this systematic review, is recommended after the Graf method because it has the highest sensitivity, especially with the three-pattern classification of 89.47%. REGISTRATION NUMBER: Identifier: CRD42020189686 at the International Prospective Register of Systematic Reviews (identifier: CRD42020189686).

Revisión de la intervención mediante lectura dialógica en niños con trastornos del desarrollo del lenguaje / A review of dialogic reading intervention in children with developmental language disorder

Resumen Introducción: La lectura dialógica es una de las técnicas más empleadas y estudiadas en el marco de las actividades de lectura compartida de libros entre niños y adultos. La presente revisión siste mática tiene como objetivo principal analizar sus efectos en el lenguaje de niños hablantes tardíos o con trastorno del desarrollo del lenguaje, no asociados a otra condición. Métodos: Se llevó a cabo una revisión sistemática de la literatura siguiendo las orientaciones del PRISMA Statement, mediante la consulta con diferentes bases de datos. Resultados: Las investigaciones revisadas muestran progresos en el lenguaje de los niños en indicadores léxicos, gramaticales y pragmáticos. También se observan cambios en el lenguaje de los adultos que aplican la intervención, tanto en el uso de las estrategias propias de la técnica como en las características gramaticales y suprasegmentales de su lenguaje. Discusión: La evidencia sobre la efectividad de la lectura dialógica en niños con trastornos del desarrollo lenguaje es prometedora pero presenta limitaciones importantes relativas, funda mentalmente, al diseño, la validez social y la fiabilidad de las intervenciones. Otras cuestiones destacables hacen referencia a los libros o materiales con los que se interactúa y a las medidas empleadas para valorar su efectividad.

Abstract Introduction: Dialogic reading is one of the most used and studied techniques within the fra me of shared book reading activities between children and adults. The current review aims to analyze its effects in late talkers and children with developmental language disorder, that is, not associated to other condition. Methods: A systematic review of the literature was carried out following PRISMA Statement gui delines. Results: The investigations reviewed show advances in children's lexical, grammatical and pragma tic indicators of language functioning. Likewise, changes are observed in the language of adults who apply the intervention, both in the use of dialogic reading strategies and in the grammatical and suprasegmental features of the language addressed to children. Discussion: The evidence about the effectivity of dialogic reading in late talkers and children with developmental language disorders is promising but has important limitations that are mainly related to the design, social validity and reliability of interventions. Other remarka ble issues relate to the books or materials employed and the measures used to assess its effectiveness.

Características clínicas y los resultados de los Potenciales Evocados Visuales por Flash en niños menores de 5 años

Introducción: Los potenciales evocados visuales (PEV) evalúan la vía visual mediante pequeñas respuestas neuroeléctricas de la corteza occipital. Constituyen un examen no invasivo para determinar la función visual en prematuros, recién nacidos, lactantes, niños con malformaciones cerebrales enfermedades metabólicas o retraso mental. Objetivo: Describir las características clínicas y los resultados de los Potenciales Evocados Visuales por Flash en niños menores de 5 años en el periodo de diciembre de 2017 a diciembre de 2018. Materiales y Métodos: Diseño observacional, descriptivo, ambispectivo con componente analítico. Los pacientes incluidos niños de 0 a 5 años de edad que se realizaron PEV en el Hospital Pediátrico en el período de diciembre de 2017 a diciembre de 2018. Muestreo no probabilístico de casos consecutivos. Variables principales: Edad, sexo, procedencia, profesional que solicitó el estudio, motivo de solicitud del estudio, datos maternos y perinatales, resultados del PEV. Los datos fueron analizados con SPSSv 21, utilizando estadística descriptiva. Resultados: Se estudiaron 110 pacientes que se realizaron PEV, la mediana de edad fue de 32 meses, predominó el sexo masculino, procedieron del departamento Central (63,6%). La mayoría de los pacientes presentaban Parálisis cerebral infantil (PCI), los neurólogos solicitaron mayormente el estudio. De los antecedentes perinatales, se evidenció que, a menor edad gestacional, menor peso de nacimiento, menor Apgar y antecedente de hospitalización perinatal, los valores de latencia y amplitud para la onda P100 en ambos ojos presentaban alteraciones, siendo esta relación estadísticamente significativa. Conclusión: Aunque en su mayoría los resultados de PEV fueron normales existe una relación importante entre los antecedentes perinatales y la alteración del resultado especialmente con respecto al Apgar a los 1 min mostrando una relación inversa.

Introduction: Visual evoked potentials (VEP) evaluate the visual pathway through small neuroelectric responses from the occipital cortex. They constitute a non-invasive test to determine visual function in premature babies, newborns, infants, children with brain malformations, metabolic diseases or mental retardation. Objective: To describe the clinical characteristics and the results of Flash Visual Evoked Potentials in children under 5 years of age during the time period from December 2017 to December 2018. Materials and Methods: This was an observational, descriptive and ambispective design with an analytical component. The patients included children from 0 to 5 years of age who underwent VEP at the Pediatric Hospital in the period from December 2017 to December 2018. We used non-probabilistic sampling of consecutive cases. Main variables: Age, sex, place of residence, professional who requested the study, reason for requesting the study, maternal and perinatal data, VEP results. Data were analyzed with SPSSv 21, using descriptive statistics. Results: 110 patients who underwent VEP were studied, the median age was 32 months, the male sex predominated, most lived in the Central department (63.6%). Most of the patients had infantile cerebral palsy (ICP), neurologists most frequently requested the study. Using the perinatal history, we determined that a lower gestational age, lower birth weight, lower Apgar score, and a history of perinatal hospitalization were associated with alterations in the latency and amplitude values for the P100 wave in both eyes, this relationship was statistically significant. Conclusion: Although the majority of the VEP results were normal, there is an important relationship between the perinatal history and the alteration of the result, especially with respect to the Apgar at 1 min, which shows an inverse relationship.

Diagnostic Accuracy of the Government of India Mother and Child Protection Card for Developmental Screening of Indian Children Aged 2-36 Months: A Hospital-based Mixed Method Study

Background: Universal developmental screening is recommended at 9, 18, 24 and 36 months. The Government of India Mother and Child Protection (MCP) card is an immunization record that is used to monitor child development, and identify children requiring further evaluation. Objectives: To determine the diagnostic accuracy of the MCP card for developmental screening, and perform its item analysis. Study design: Mixed-method study (prospective study of diagnostic accuracy and qualitative study). Participants: Mother-child dyads of children between 2-36 months of age were recruited from the outpatient department or wards of a tertiary level children’s hospital from November, 2019 to October, 2021. Children with confirmed neurodevelopmental disorders/disability, and mothers with less than 6th standard education were excluded. Intervention: Each mother was given a MCP card, and taught how to mark the items. This was followed by the researcher’s evaluation (index tool). The reference tool was a comprehensive clinical assessment (CCA) by the researcher and an expert. The CCA included clinical examination of hearing, vision, and neurodevelopment; and psychometric assessment of development and adaptive function. Each mother underwent an in-depth interview. Overall and group wise psychometric properties of diagnostic accuracy were computed. The interview transcripts were analyzed thematically. Outcomes: The proportion of children with ‘fail’ and ‘delay’ by the evaluation of the researcher with the MCP card and the expert by the CCA, respectively. Results: The study population included 213 children (40.4% females). Fifty-two (24.4%) children were identified as ‘Fail’ by the MCP card and 43 (20.2%) as ‘delay’ by the expert’s CCA. The overall sensitivity and specificity was 83.7% (95% CI 69.3-93.2) and 90.6% (95% CI 85.2-94.5), respectively. Acceptable diagnostic accuracy was found in the age-group 7-9 months, 13-18 months, and 25-36 months. Conclusions: The MCP card may be used for developmental screening at 9, 18, and 36 months.

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

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

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

A-case-report-of-zellweger-syndrome-with-global-deveopmental-delay

Peroxisome biogenesis disorder are related to spectrum of genetic diseases that range from severe Zellweger syndrome to milder infantile Refsum disease. Zellweger syndrome is characterized by dysmorphic features, severe hypotonia, seizures, failure to thrive, liver dysfunction and skeletal defects. We report a case of Zellweger syndrome, confirmed by clinical, biochemical and molecular findings, diagnosed in context of dysmorphism, and seizures.