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

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

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

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

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

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

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)

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

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

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

Resultados en el neurodesarrollo en la edad preescolar y escolar de los recién nacidos pretérminos asistidos en el CTI neonatal de la Asociación Médica de San José / Neurodevelopmental preschool and school results of preterm newborns assisted at the neonatal ICU of the San José department medical provider in Uruguay / Resultados neuro desenvolvimento em idade pré-escolar e escolar de recém-nascidos pré-termos atendidos na UTI neonatal da assistência médica do departamento do São José no Uruguai

Uruguay acompaña la tendencia mundial al descenso de la natalidad con un descenso de la mortalidad concomitante, siendo la primera causa de mortalidad infantil la prematurez. Enfocados en la prematurez, es de nuestro interés conocer qué ocurre con estos niños luego del alta de la unidad neonatal. Se realizó el estudio de una cohorte de niños entre 4 y 8 años, nacidos con 32 semanas o menos de edad gestacional y/o con pesos al nacer de 1.500 g o menos, asistidos en su período neonatal en la Asociación Médica de San José, a quienes se les realizó el test de Battelle. Se logró identificar las áreas con mayor dificultad en el desarrollo para cada grupo de edad, concluyendo que se pueden realizar planes específicos de acción para promover el desarrollo de estos niños en la edad preescolar y escolar.

Uruguay follows the global declining trend in birth rates along with decreasing mortality, being prematurity the main cause of infant mortality. We studied premature children who had undergone the Battelle Test and had been discharged from the neonatal unit, a cohort of children between 4 and 8 years of age, born at 32 weeks or less of gestational age and/or having a birth weight of 1500g or less, assisted in their neonatal period at the San José Department Medical Center. We could identify the main areas affecting development for each age group, and concluded that specific action plans can be carried out to promote the development of these children at preschool and school age.

O Uruguai acompanha a tendência mundial de declínio das taxas de natalidade com uma concomitante diminuição da mortalidade, sendo a prematuridade a principal causa de mortalidade infantil. Nos focamos na prematuridade e no estudo do que acontece com essas crianças após a alta da unidade neonatal. Realizamos um estudo de uma coorte de crianças entre 4 e 8 anos que tinham sido submetidas ao Teste de Battelle, nascidas com 32 semanas ou menos de idade gestacional e/ou com peso de nascimento igual ou inferior a 1500g, atendidas no período neonatal na Assistência Médica do Departamento de São José no Uruguai. Foi possível identificar as áreas de maior dificuldade de desenvolvimento para cada faixa etária, e concluir que podem se realizar planos de ação específicos para promover o desenvolvimento dessas crianças em idade pré-escolar e escolar.

Itinerarios de tratamiento según las narrativas de madres y padres de niños y niñas con discapacidad secundaria a trastornos del neurodesarrollo / Therapeutic itineraries according to the narratives of parents of children with disabilities secondary to neurodevelopmental disorders

Introducción. Los trastornos en el neurodesarrolloinfantil constituyen un 10 % de las causasde discapacidad en la niñez. La búsquedade atención médica configura itinerariosterapéuticos, entendidos como los procesos de búsqueda y atención para el cuidado de la salud, donde surgen oportunidades de diagnósticoy tratamiento. El objetivo fue explorar dichos itinerarios para comprender las oportunidades y barreras que se presentan para instaurarterapias y pautas de crianza que promuevan el neurodesarrollo. Población y métodos. Estudio cualitativomediante entrevistas en profundidad a madres y padres de niños (de junio de 2018 a noviembre de 2019). El análisis se realizó sobre la base del modelo social de la discapacidad y del de desarrollo infantil propuesto por Vygotsky. Resultados. Se realizaron 16 entrevistas.Considerando la edad de inicio de los itinerarios terapéuticos y el diagnóstico, se identificaron dos grupos: aquellos que los comenzaron desde el nacimiento hasta los 2 años (inicio precoz) y quienes lo hicieron a partir de los 3 años (inicio en la primera infancia e infancia tardía). En el primero se habilita tempranamente la búsqueda de tratamiento, mientras que en el segundo se prolongaron en el tiempo las decisiones sobre el inicio y/o el tipo de terapias. El inicio tardío se acompañó de dificultades en la escuela, períodosde incertidumbre, angustia y/o conflictosfamiliares por las complejidades de la crianza. Conclusiones. Los itinerarios terapéuticos seiniciaron en forma precoz en algunos casos y tardía en otros. El inicio de tratamientos permitióincorporar herramientas para acortar la brecha de incongruencia entre las líneas biológica y cultural de desarrollo.

Introduction. Childhood neurodevelopmental disorders account for 10% of the causes of childhood disability. The search for medical care leads to therapeutic itineraries routes taken by individuals to seek health care where diagnostic and treatment opportunities arise. Our objective was to explore these itineraries in order to understand the opportunities and barriers to the implementation of therapies and child rearing patterns promoting neurodevelopment. Population and methods. Qualitative study using in-depth interviews with children's parents (between June 2018 and November 2019). The analysis was based on the social model of disability and Vygotsky's approach to child development. Results. A total of 16 interviews were conducted. Considering the time of diagnosis and the age when the therapeutic itinerary started, 2 groups were identified: those who started from birth to 2 years old (early initiation) and those who started from 3 years old (late childhood initiation). In the first group, the search for treatment starts at an early stage, while in the other group, decisions on the initiation and/or type of treatments are prolonged over time. Late initiation was accompanied by difficulties in school, periods of uncertainty, distress and/or family conflicts due to the complexities of parenting. Conclusions. Therapeutic itineraries started early in some cases and at a later stage in others. The initiation of treatments made it possible to use tools to bridge the gap of discrepancies between the biological and cultural lines of development.

Motor development of children exposed to the zika virus: systematic reviews / Desenvolvimento motor de crianças expostas ao zika vírus: revisão sistemática

Abstract Objectives: to describe the motor development, in the first two years of life, of children with evidence of congenital Zika virus syndrome (CZS) at birth and of children exposed to the Zika virus (ZIKV) during pregnancy, but without evidence of CZS. Methods: systematic review, according to the recommendations of the Preferred Reporting Items for Systematic Reviews (PRISMA). The search took place in the VHL/LILACS interface and BIREME/ PubMed interface databases until March 2020. Two researchers analyzed the quality of the studies using the Johanna Briggs Institute methodology. Results: 21 articles were selected. Children with CZS have severe impairment of motor functions and a high prevalence of spastic cerebral palsy. At two years of life, most reached only early levels of motor development; with impaired vision, hearing, language, cognition, behavior, and social interaction. On the other hand, children exposed to ZIKV, but without evidence of CZS, are at lower risk, about 20% have late manifestations of delay and/or neurodevelopmental disorder. Variables associated with greater motor impairment are early maternal infection, preterm birth, lower head circumference, abnormal imaging, use of anticonvulsant, increasing age, arthrogryposis, epilepsy, deficits in vision, language, cognition, and lower income. Conclusion: Most children with CZS show severe motor impairment; a small part of those exposed to ZIKV, without evidence of the syndrome at birth, have alteration in neurodevelopment. Those children should be followed in the long-term, since some manifestations may occur belatedly.

Resumo Objetivos: analisar o desenvolvimento motor, nos dois primeiros anos de vida, de crianças com evidências da síndrome congênita pelo Zika vírus (SCZ) ao nascimento e de crianças expostas ao Zika vírus (ZIKV) durante a gestação, mas sem evidências da SCZ. Métodos: revisão sistemática, segundo as recomendações da Preferred Reporting Items for Systematic Reviews (PRISMA). A busca ocorreu nas bases BVS/interface LILACS e BIREME/interface PubMed até março de 2020. Duas pesquisadoras analisaram a qualidade dos estudos pela metodologia do Johanna Briggs Institute. Resultados: entre 184 publicações, selecionou-se 21 artigos. Crianças com a SCZ apresentam grave comprometimento das funções motoras e alta prevalência de paralisia cerebral espástica. Aos dois anos de vida, a maior parte atingiu apenas níveis iniciais do desenvolvimento motor; com comprometimento da visão, audição, linguagem, cognição, comportamento e interação social. Já as crianças expostas ao ZIKV, mas sem evidências da SCZ, estão em menor risco, cerca de 20% apresentam manifestações tardias de atraso e/ou anormalidade do neurodesenvolvimento. Variáveis associadas a maior comprometimento motor são: infecção materna precoce, nascimento pré-termo, menor perímetro cefálico, exame de imagem anormal, uso de anticonvulsivante, aumento da idade, artrogripose, epilepsia, déficits da visão, linguagem, cognição, e menor renda. Conclusão: a maioria das crianças com SCZ apresenta grave comprometimento motor; pequena parte das expostas ao ZIKV, sem evidências da síndrome ao nascimento, tem alteração no neurodesenvolvimento. Estas crianças devem ser acompanhadas por longo prazo, pois algumas manifestações podem ser tardias.

Factores asociados al control de síntomas nucleares en pacientes pediátricos con trastorno de déficit de atención e hiperactividad, en un centro especializado de Medellín entre 2018 y 2019 / Factors associated with the control of nuclear symptoms in pediatric patients with Attention Deficit Hyperactivity Disorder in a specialized center in Medellín between 2018 and 2019 / Fatores associados ao controle de sintomas nucleares em pacientes pediátricos com transtorno de déficit de atenção e hiperatividade, em um centro especializado em Medellín entre 2018 e 2019

Objetivo: el trastorno de déficit de atención e hiperactividad (TDAH) ha sido descrito como el trastorno del neurodesarrollo más común en la infancia. Esta condición se asocia a un significativo deterioro en calidad de vida, múltiples comorbilidades y, a largo plazo, a menores logros académicos y laborales. A pesar de que se ha evidenciado que en los pacientes de ascendencia latina se presenta un posible subdiagnóstico, que en Colombia se han estimado prevalencias mayores a las descritas en el planeta, y que los efectos de la pandemia por Covid-19 han podido exacerbar esta problemática, el volumen de estudios con estimaciones reproducibles sobre las características, tratamientos recibidos y control de síntomas de estos pacientes aún requiere ampliarse. Este estudio busca establecer los factores sociodemográficos, clínicos y del tratamiento asociados al control de los síntomas nucleares de este trastorno, que consisten en patrones persistentes y generalizados de inatención, impulsividad e hiperactividad. Metodología: estudio descriptivo con intención analítica en una cohorte retrospectiva de pacientes pediátricos con trastorno de déficit de atención e hiperactividad seguidos durante seis meses en un centro especializado de Medellín, Colombia, entre 2018 y 2019. Resultados: se identificó una incidencia de control de síntomas de 46,7% que se asoció de manera significativa con la adherencia al tratamiento y con historia familiar de TDAH. Conclusiones: puede afirmarse que, en pacientes pediátricos con TDAH, estos factores podrían aumentar la probabilidad de lograr el control de los síntomas nucleares.

Objective: Attention Deficit Hyperactivity Disorder (ADHD) has been described as the most common neurodevelopmental disorder in childhood. This condition is associated with significant deterioration in the quality of life, multiple comorbidities and, in the long term, lower academic and work achievements. Despite the fact that it has been shown that patients of Latin descent present a possible underdiagnosis, that in Colombia higher prevalence has been estimated than those described worldwide, and that the effects of the Covid-19 pandemic have been able to exacerbate this problem, the volume of studies with reproducible estimates on the characteristics, treatments received, and symptom control of these patients still needs to be expanded. This study seeks to establish the sociodemographic, clinical and treatment factors associated with the control of the core symptoms of this disorder, which consist of persistent and generalized patterns of inattention, impulsivity and hyperactivity. Methodology: Descriptive study with analytical intent in a retrospective cohort of pediatric patients with attention deficit hyperactivity disorder followed up for 6 months in a specialized center in Medellín, Colombia, between 2018 and 2019. Results: An incidence of symptom control of 46.7% was identified, which was significantly associated with adherence to treatment and with a family history of ADHD. Conclusions: It can be affirmed that, in pediatric patients with ADHD, these factors could increase the probability of achieving control of nuclear symptoms.

Objetivo: o transtorno dedéficit de atenção e hiperatividade (TDAH) tem sido descrito como o transtorno do neurodesenvolvimento mais comum na infância. Esta condição está associada a uma deterioração significativa na qualidade de vida, múltiplas comorbidades e, a longo prazo, menores rendimentos acadêmicos e profissionais. Apesar de ter sido demonstrado que os pacientes de ascendência latina apresentam um possível subdiagnóstico, e que na Colômbia foram estimadas prevalências mais altas do que as descritas no planeta e que os efeitos da pandemia de Covid-19 foram capazes de exacerbar esse problema, o volume de estudos com estimativas reprodutíveis sobre as características, tratamentos recebidos e controle de sintomas desses pacientes ainda precisam ser ampliados. Este estudo busca estabelecer os fatores sociodemográficos, clínicos e de tratamento associados ao controle dos sintomas centrais desse transtorno, que consistem em padrões persistentes e generalizados de desatenção, impulsividade e hiperatividade. Metodologia: estudo descritivo com intenção analítica em uma coorte retrospectiva de pacientes pediátricos com transtorno de déficit de atenção e hiperatividade acompanhados por seis meses em um centro especializado em Medellín, Colômbia, entre 2018 e 2019.Resultados: identificou-se uma incidência de controle dos sintomas de 46,7%, signifi-cativamente associada à adesão ao tratamento e ao histórico familiar de TDAH.Conclusões: Pode-se afirmar que, em pacientes pediátricos com TDAH , esses fatores podem aumentar a probabilidade de controle dos sintomas nucleares.

Sobrecarga de madres de niños y adolescentes con trastornos del neurodesarrollo / Burden of mothers of children and adolescents with neurodevelopmental disorders

El cuidado de niños y adolescentes con trastornos del neurodesarrollo implica altas demandas físicas, financieras y emocionales y puede asociarse con el surgimiento de sobrecarga parental. Como consecuencia, aumenta la frecuencia de empeoramiento conductual del menor y de trastornos depresivos y de ansiedad en el adulto responsable. Se describen los casos de tres madres de pacientes con trastornos del desarrollo que presentaron sobrecarga parental para aumentar la visibilización de esta problemática en ámbitos pediátricos. Todos los hijos estaban recibiendo plan psicofarmacológico por la presencia de alteraciones conductuales y solo uno tenía acompañante terapéutico. La detección temprana y derivación de los padres con sobrecarga es imprescindible para mejorar la calidad de vida de los niños y los adolescentes con trastornos del neurodesarrollo y sus familias

Introduction: The care of children and adolescents with neurodevelopmental disorders involves high physical, financial and emotional demands, and it may be associated with the emergence of parenting stress. As a result, there is an increase in the frequency of minor behavioral worsening and depressive and anxiety disorders in the responsible adult. The cases of three mothers of patients with developmental disorders are described in order the visibility of this problem in pediatric settings. All the children were receiving psychotropics for the presence of behavioral alterations and only one had a therapeutic companion. Conclusion: Early detection and referral of parenting stress is essential to improve the quality of life of children and adolescents with neurodevelopmental disorders and their families. Objectives: to describe the initial clinical findings of patients with CVID diagnosed at Hospital de Niños Sor Maria Ludovica, between 1981 and 2019. 19 patients were included, 14 were male (74%). All Patients Had a history of recurrent infections, most frequently pneumonia (74%) and acute otitis media (42%). 9 patients suffered from chronic diarrhea (47%), with associated malabsorption in 6 of them. Thirty-two presented with severe malnutrition and 1 patient with gastric metaplasia. One Patient Had Splenomegaly and 1 had Evans´ syndrome. Bronchiectasis were found in 42% of patients at the time of diagnosis. Early suspicion of CVID from pediatricians is essential in order to arrive at a proper diagnosis

Desarrollo físico y neuropsicológico de pacientes diagnosticados con hipotiroidismo congénito en el Hospital Universitario San Ignacio entre los años 2001 y 2017 / Neuropsychological and physical development of patients diagnosed with congenital hypothyroidism at the San Ignacio University Hospital between 2001 and 2017

Introducción. El hipotiroidismo congénito es la principal causa de discapacidad cognitiva prevenible en el mundo. Para detectarlo se han desarrollado programas de tamización, con el fin de disminuir las secuelas neurológicas asociadas. El seguimiento y las evaluaciones a mediano y largo plazo de estos pacientes son fundamentales. Objetivo. Describir las características demográficas, el tratamiento y el seguimiento de los pacientes con diagnóstico de hipotiroidismo congénito en el marco del programa de tamización del Hospital Universitario de San Ignacio en Bogotá, Colombia. Materiales y métodos. Se hizo un estudio observacional de corte transversal. La población de estudio fueron los pacientes con diagnóstico de hipotiroidismo congénito en el Hospital Universitario San Ignacio entre el 2001 y el 2017. Resultados. Se contactó a 14 de los 19 pacientes con diagnóstico de hipotiroidismo congénito en el programa de tamizaje del Hospital. Los 14 niños estaban escolarizados, y la mayoría tenía el peso y la talla adecuados, aunque hubo talla baja en dos de ellos. El diagnóstico etiológico más frecuente fue hipoplasia tiroidea. Todos empezaron su tratamiento y el seguimiento oportunamente. La alteración más frecuente en las pruebas neuropsicológicas se registró en la memoria. El nivel de educación materno podría estar relacionado con el resultado anormal en el dominio del lenguaje. Conclusión. En el presente estudio, las alteraciones en las pruebas de memoria fueron las más prevalentes; sin embargo, dado el diseño y el tipo de estudio, se requieren más investigaciones que permitan establecer asociaciones. El crecimiento y el desarrollo puberal presentaron una frecuencia baja de alteraciones.

Introduction: Congenital hypothyroidism is the leading cause of preventable cognitive disability in the world. Therefore, screening programs have been developed in order to reduce the neurological sequelae associated with this pathology. Objective: To describe the demographic characteristics, the treatment, and the follow-up of patients diagnosed with congenital hypothyroidism in the screening program at the San Ignacio University Hospital in Bogotá, Colombia. Materials and methods: We conducted an observational cross-sectional study. The study population was patients diagnosed with congenital hypothyroidism at the Hospital between 2001 and 2017. Results: Fourteen of the 19 patients diagnosed with congenital hypothyroidism in the hospital screening program were contacted. All of the patients had schooling, most of them had adequate weight and height, and two had short stature. In most of them, the etiological diagnosis was thyroid hypoplasia, and all began the treatment and follow-up in an adequate way. The most frequent alteration in the neuropsychological tests was in the memory domain and the level of maternal education could be related to an abnormal result in the domain of language. Conclusion: In our study, alterations in the memory tests were the most prevalent; however, due to the design and type of study, more research is required to establish associations. A low frequency of abnormal growth and puberty was found.

El desafío para el desarrollo del sistema nervioso central en la reproducción humana asociada con la diabetes / The challenge for the development of the central nervous system in human reproduction associated with diabetes

Introducción: Los hijos de madres con diabetes presentan una mayor incidencia de trastornos del neurodesarrollo como autismo, actividad cognitiva baja, déficit de atención, esquizofrenia y otras enfermedades del espectro autista. Objetivo: Explicar los mecanismos moleculares que subyacen en la aparición de los trastornos del neurodesarrollo en hijos de gestantes con diabetes. Métodos: Se llevó a cabo una revisión de la literatura que aparece en las bases de datos electrónicas Google, MEDLINE/PubMed y SciELO. Se revisaron artículos publicados entre los años 2000 y 2020. Las palabras clave utilizadas fueron: hiperglucemia, neurodesarrollo, malformaciones congénitas y epigenética. Resultados: Se pone de manifiesto el alto riesgo que representa la hiperglucemia durante el desarrollo intrauterino. El riesgo relativo que tienen los hijos de madres con diabetes pregestacional de presentar malformaciones del sistema nerviosos central es 15,5 veces mayor que en gestantes sin diabetes. El hipocampo es especialmente sensible a cambios en los niveles de glucosa. La diabetes materna puede dejar una impronta negativa para la capacidad de procesar información, adquirir habilidades y poseer un comportamiento social adecuado en la descendencia. Conclusiones: Las alteraciones en el metabolismo condicionadas por la hiperglucemia, el estrés oxidativo, la inflamación de bajo grado y las modificaciones epigenéticas crean un fatal engranaje que sustenta el desarrollo anómalo en hijos de gestantes con diabetes(AU)

Introduction: Children, whose mothers suffer from diabetes, have higher incidence of neurodevelopmental disorders such as autism, low cognitive activity, attention deficit, schizophrenia and other autism spectrum diseases. Objective: To explain the molecular mechanisms that underlie the appearance of neurodevelopmental disorders in children of pregnant women with diabetes. Methods: A review of the literature that appears in Google, MEDLINE/PubMed and SciELO electronic databases, was carried out. Articles published from 2000 to 2020 were reviewed. The keywords used were hyperglycemia, neurodevelopment, congenital malformations, and epigenetics. Results: The high risk that hyperglycemia represents during intrauterine development is highlighted. The relative risk that children of mothers with pregestational diabetes have of presenting malformations of the central nervous system is 15.5 times higher than in pregnant women without diabetes. The hippocampus is especially sensitive to changes in glucose levels. Maternal diabetes can leave negative print on the ability to process information, acquire skills and have appropriate social behavior in their children. Conclusions: Alterations in metabolism conditioned by hyperglycemia, oxidative stress, low-grade inflammation and epigenetic modifications create a fatal mechanism that supports abnormal development in children of pregnant women with diabetes(AU)

Loss of O-GlcNAcylation on MeCP2 at Threonine 203 Leads to Neurodevelopmental Disorders / 神经科学通报·英文版

Mutations of the X-linked methyl-CpG-binding protein 2 (MECP2) gene in humans are responsible for most cases of Rett syndrome (RTT), an X-linked progressive neurological disorder. While genome-wide screens in clinical trials have revealed several putative RTT-associated mutations in MECP2, their causal relevance regarding the functional regulation of MeCP2 at the etiologic sites at the protein level requires more evidence. In this study, we demonstrated that MeCP2 was dynamically modified by O-linked-β-N-acetylglucosamine (O-GlcNAc) at threonine 203 (T203), an etiologic site in RTT patients. Disruption of the O-GlcNAcylation of MeCP2 specifically at T203 impaired dendrite development and spine maturation in cultured hippocampal neurons, and disrupted neuronal migration, dendritic spine morphogenesis, and caused dysfunction of synaptic transmission in the developing and juvenile mouse cerebral cortex. Mechanistically, genetic disruption of O-GlcNAcylation at T203 on MeCP2 decreased the neuronal activity-induced induction of Bdnf transcription. Our study highlights the critical role of MeCP2 T203 O-GlcNAcylation in neural development and synaptic transmission potentially via brain-derived neurotrophic factor.

RhoGEF Trio Regulates Radial Migration of Projection Neurons via Its Distinct Domains / 神经科学通报·英文版

The radial migration of cortical pyramidal neurons (PNs) during corticogenesis is necessary for establishing a multilayered cerebral cortex. Neuronal migration defects are considered a critical etiology of neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia, epilepsy, and intellectual disability (ID). TRIO is a high-risk candidate gene for ASDs and ID. However, its role in embryonic radial migration and the etiology of ASDs and ID are not fully understood. In this study, we found that the in vivo conditional knockout or in utero knockout of Trio in excitatory precursors in the neocortex caused aberrant polarity and halted the migration of late-born PNs. Further investigation of the underlying mechanism revealed that the interaction of the Trio N-terminal SH3 domain with Myosin X mediated the adherence of migrating neurons to radial glial fibers through regulating the membrane location of neuronal cadherin (N-cadherin). Also, independent or synergistic overexpression of RAC1 and RHOA showed different phenotypic recoveries of the abnormal neuronal migration by affecting the morphological transition and/or the glial fiber-dependent locomotion. Taken together, our findings clarify a novel mechanism of Trio in regulating N-cadherin cell surface expression via the interaction of Myosin X with its N-terminal SH3 domain. These results suggest the vital roles of the guanine nucleotide exchange factor 1 (GEF1) and GEF2 domains in regulating radial migration by activating their Rho GTPase effectors in both distinct and cooperative manners, which might be associated with the abnormal phenotypes in neurodevelopmental disorders.

Advances in genetic research on autism spectrum disorders / 中华医学遗传学杂志

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders. Patients usually exhibit certain degree of social interaction impairment in accompany with impairment in language development as well as repetitive behaviors or interests. In recent years, ASD-related variants, genes, functional pathways, and expression patterns in the brain have been discovered, along with advance in sequencing techniques. This article reviews various aspects of genetic research in association with ASD.

The quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders in Philippine Children's Medical Center during COVID-19 pandemic

BACKGROUND@#COVID-19 resulted in a public health emergency and quarantine measures which may negatively impact vulnerable populations.@*OBJECTIVES@#This study intends to determine the quality of life, situations and emerging concerns of parents of children with neurodevelopmental disorders during the ongoing pandemic. @*METHODOLOGY@#A cross-sectional survey using a socio-demographic questionnaire, situations and emerging concerns during the coronavirus pandemic and WHOQOL-BREF (Filipino version) for parental quality of life was documented via Google Forms. Parents of patients aged 2-18 years seen at the PCMC Neurodevelopmental Pediatrics OPD during July to December 2019 were recruited.@*RESULTS@#Data from 115 respondents showed a lower score in the environmental domain. Child characteristics comparable with QoL scores include sex, severity of ID and ADHD while parent characteristics comparable with the QoL scores include educational attainment, monthly family income, father’s employment status and family structure (P-value <0.05). Most respondents reported situations of physical distancing (82.61%) and curfew (80.87%). Inability to access essential services (43.48-74.48%) were further compounded by limited financial resources (51.30%) and public transport (60%). Government policy received included quarantine pass (90.43%), food allowance or relief package (86.09%), disinfection (60.87%), DSWD-SAP (42.61%) and cash distribution (41.74%).@*RECOMMENDATIONS@#Programs and policies should be planned accordingly to provide improvement of quality of life to parents and their child with neurodevelopmental disorder.

Perfil de psicoterapeutas pais-bebê de Porto Alegre: formação e atuação profissional / Profile of parent-infant psychotherapists of Porto Alegre: training and professional actuation / Perfil de psicoterapeutas padres-bebés de Porto Alegre: formación y actuación profesional

A psicoterapia pais-bebê é uma modalidade terapêutica que enfoca a relação da díade/tríade pai-mãe/bebê, geralmente embasada no referencial teórico psicanalítico. No Brasil, são escassas as pesquisas sobre o tema. Este estudo teve como objetivo investigar o perfil de profissionais que atuam como psicoterapeutas pais-bebê em Porto Alegre e as características e especificidades deste campo de atuação. Trata-se de estudo qualitativo, de caráter exploratório-descritivo. Os dados foram coletados por meio de entrevista semiestruturada realizada presencialmente. Participaram do estudo 10 psicoterapeutas do sexo feminino, selecionadas por conveniência. Utilizou-se a Análise de Conteúdo proposta por Laurence Bardin para a análise dos dados. A possibilidade de intervir precocemente foi descrita como a principal motivação para a inserção na área, que ocorreu sem uma formação acadêmica estruturada. Possuir conhecimentos sobre desenvolvimento infantil, constituição de vínculos e dinâmica familiar foi citado como imprescindível para a atuação profissional. Quanto às características pessoais e técnicas, foram mencionadas a necessidade de identificação com a técnica e com o trabalho com bebês e de possuir formação sólida, pautada em estudo teórico, supervisão e análise pessoal. A importância da experiência prática e da observação de bebês enquanto ferramentas de aprendizagem também foi destacada, e constatou-se a necessidade de ampliar a visibilidade desse campo de atuação entre profissionais e público em geral.(AU)

The parent-infant psychotherapy is a therapeutic approach that focus on the father-mother/baby dyad/triad, usually based on the psychoanalytic theoretical framework. In Brazil, research on this theme is scarce. This study aimed to investigate the profile of parent-infant psychotherapists that work in Porto Alegre and the characteristics and specificities of their field of actuation. This is a qualitative study, with a descriptive and exploratory design. Data were collected by semi-structured in person interviews. A total of 10 female psychotherapists, selected by convenience, participated in the study. Content Analysis proposed by Laurence Bardin was used for data analysis. The possibility of early intervention was described as the main motivation for the choice of this field, which occurred without a formal training. Knowledge about child development, bonding and family dynamics stood out as essential for professional performance. Regarding personal and technical characteristics, the need for identification with this technique and with working with babies and a solid training, based on theoretical study, supervision and personal analysis, were mentioned. The importance of the practical experience and of the infant observation as learning tools was also highlighted, and the need to increase the visibility of this practical field among professionals and the general public was observed.(AU)

La psicoterapia padres-bebé es una modalidad terapéutica que se enfoca en la relación de la díada/tríada padre-madre/bebé, generalmente basada en el referencial teórico psicoanalítico. En Brasil, pocas son las investigaciones sobre el tema. Este estudio analizó el perfil de profesionales que actúan como psicoterapeutas padres-bebé en Porto Alegre (Brasil) y las características y especificidades de este ámbito de actuación. Este es un estudio cualitativo, de naturaleza exploratoria descriptiva. Para la recopilación de datos se realizó una entrevista semiestructurada de modo presencial. Se entrevistaron a 10 psicoterapeutas mujeres, elegidas por conveniencia. Se aplicó el Análisis de Contenido propuesto por Laurence Bardin para analizar los datos. La posibilidad de intervenir precozmente se describió como la principal motivación para la selección del área, que ocurrió sin una formación académica estructurada. Poseer conocimientos sobre desarrollo infantil, constitución de vínculos y dinámica familiar se destacó como imprescindible para la actuación profesional. Respecto a las características personales y técnicas, se mencionaron la necesidad de identificación con dicha técnica y con el trabajo con bebés, y tener una sólida formación, regida por estudios teóricos, supervisión y análisis personal. Además, se destacó la importancia de la experiencia práctica y de la observación de bebés como herramienta de aprendizaje, y se constató la necesidad de ampliar la visibilidad de este campo de actuación entre los profesionales y el público en general.(AU)

Necessidades de cuidadores de crianças com transtorno de neurodesenvolvimento: overview / Necessities of caregivers of children with neurodevelopmental disorder: an overview

Objetivo: analisar estratégias de como o sistema de saúde e outras redes de apoio podem prover suporte de saúde de famílias/cuidadores de crianças com transtorno de neurodesenvolvimento (TND). Métodos: trata-se de um overviewde revisões estruturada de acordo com o checklist PRISMA e registrada na plataforma PROSPERO CRD42018102193. Buscas foram realizadas em dez bases da literatura com descritores padronizados MESH. A análise narrativa foi realizada para sistematizar elementos das estratégias, aspectos de implementação e equidade. Resultados: foram triados 3215 títulos e resumos, após retirada de duplicidades e leitura de título e resumo, 127 foram para leitura completa e 11 atenderam aos critérios. Quatro estratégias abordaram as principais necessidades dos cuidadores: 1. Estimular que as estratégias de atenção integral à saúde sejam centradas na família das crianças com TND, 2. Promover melhores condições de vida para as famílias, por meio de apoio emocional, social e financeiro, 3. Incentivar e fortalecer vínculos afetivos entre os cuidadores e os profissionais da saúde, 4. Promover linhas de cuidado para os cuidadores, centradas na autonomia e no autocuidado. Conclusões: as quatro estratégias abordadas procuram atender às necessidades dos cuidadores de crianças com TND para promover um maior suporte às famílias.

Objective: analyze strategies that can provide health support for families/caregivers of children diagnosed with neurodevelopmental disorders (NDD) by the health system and other support networks.Methods: it is an overview of reviews structured according to the PRISMA checklist and registered on the PROSPERO CRD42018102193 platform. Searches were performed on ten literature databases with standardized MESH descriptors. Narrative analysis was carried out to systematize elements of the strategies, aspects of implementation and equity. Results: 3215 titles and abstracts were screened, after duplicates were removed and the title and abstract were read, 127 were selected for complete reading, and 11 met the eligibility criteria. The caregivers' needs were approached in four strategies: 1. Encourage that health care strategies are centered on the family of children with NDD, 2. Promote better living conditions for families, through emotional, social and financial support, 3. Encourage strengthening affective bonds between caregivers and health professionals, 4. Promote lines of care for caregivers, centered on autonomy and self-care. Conclusions: The four strategies addressed seek tomeet the needs of caregivers of children with NDD to promote greater support for families. They are independent but complementary, and the four pillars must be present for quality support.

Actividad Física, Ejercicio Físico y Calidad de Vida en niños y adolescentes con Trastorno por déficit de atención y/o hiperactividad / Physical activity, exercise and quality of life in children and adolescents with Attention deficit hyperactivity disorder

Introducción: El Trastorno por déficit de atención y/o hiperactividad (TDAH) es un trastorno del neurodesarrollo que afecta la calidad de vida en niños y adolescentes, y se extiende hasta la edad adulta. La literatura señala que la práctica de actividad física y ejercicio físico establece beneficios positivos para el organismo del ser humano, a nivel físico, biológico y psicológico. Objetivo: Examinar los efectos de las intervenciones de actividad física o ejercicio físico sobre la calidad de vida en niños y adolescentes diagnosticados con TDAH. Material y Método: La búsqueda de las investigaciones fueron realizadas a través de Google Scholar, Scopus, Pubmed, Scielo, Web of Science, Dialnet y Redalyc, seleccionando solo investigaciones de libre acceso en idioma español. Se consideraron los últimos 5 años para el análisis de las investigaciones, se buscaron mediante las palabras utilizadas Actividad Física y Calidad de vida en niños y adolescentes con trastorno por déficit de atención e hiperactividad, Ejercicio Físico y Calidad de vida en niños y adolescentes con trastorno por déficit de atención e hiperactividad, Actividad Física y Calidad de vida en niños y adolescentes con TDAH, Ejercicio Físico y Calidad de vida en niños y adolescentes con TDAH. Desarrollo: Los 8 artículos seleccionados y extraídos de las bases de datos, concuerdan con los criterios de inclusión relacionados con los beneficios en la calidad de vida físicos, a nivel psicológicos, biológicos y sociales. Conclusiones: Intervenciones de actividad física y ejercicio físico con una duración de 15 min a 90 min en niños y adolescentes con TDAH pueden ser beneficiosas en la calidad de vida(AU)

Introduction: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects quality of life in children and adolescents, extending into adulthood. The literature indicates that the practice of physical activity and physical exercise establishes positive benefits for the human body at a physical, biological and psychological level. Objective: To examine the effects of physical activity or physical exercise interventions on quality of life in children and adolescents diagnosed with ADHD. Material and Methods: The search for research was carried out through Google Scholar, Scopus, Pubmed, Scielo, Web of Science, Dialnet and Redalyc, selecting only open access research in Spanish. The last 5 years were considered for the analysis of the research; they were searched using the words: Physical Activity and Quality of life in children and adolescents with attention deficit and hyperactivity disorder, Physical Exercise and Quality of life in children and adolescents with attention deficit disorder with hyperactivity, Physical Activity and Quality of life in children and adolescents with ADHD, Physical Exercise and Quality of life in children and adolescents with ADHD. Development: The 8 articles selected and extracted from the databases agree with the inclusion criteria related to the physical, psychological, biological and social benefits on quality of life. Conclusions: Physical activity and physical exercise interventions with a duration of 15-90 minutes in children and adolescents with ADHD can be beneficial on quality of life(AU)