RESUMO
O diagnóstico de uma condição crônica na família tende a movimentar as relações intra e extrafamiliares. No caso do Transtorno do Espectro do Autismo (TEA), essa movimentação tende a ocorrer de forma significativa com os vínculos maternos, visto que as mães costumam ser as principais cuidadoras dos filhos com esse diagnóstico. Assim, o presente estudo objetivou investigar os impactos do diagnóstico de TEA nas redes sociais significativas maternas e como as mães lhes atribuíram sentido. Participaram 12 mães de filhos diagnosticados com TEA na infância, com as quais foram realizadas entrevistas reflexivas e construídos dois mapas de redes sociais significativas, um anterior e outro posterior ao TEA. A análise dos dados foi feita através da Grounded Theory . No momento inicial da entrevista, foi possível perceber que a maioria das participantes se referiu ao sentimento de não ter apoio, expressando desamparo. Todavia, ao longo do processo de construção dos mapas, percebeu-se relevante mudança no discurso das mães, que reconheceram e se surpreenderam com a presença de vínculos importantes nas suas redes sociais, embora, da sua perspectiva, eles não lhes proporcionem o apoio necessário. Portanto, destaca-se a importância da ativação das redes sociais significativas das mães, bem como a instrumentalização dessas redes para que possam estar presentes de maneira efetiva e fornecer apoio, salientando-se o importante papel de profissionais da saúde e da educação nesse cenário. Por fim, aponta-se o mapa de redes enquanto potente instrumento clínico e de pesquisa.(AU)
The diagnosis of a chronic condition in the family tends to move intra- and extra-family relationships. In the Autistic Spectrum Disorder (ASD) case, this movement tends to occur significantly with maternal bonds, since mothers are often referred as the main caregivers of children with this diagnosis. Thus, this study aimed to investigate the impacts of the ASD diagnosis on significant maternal social networks and how mothers signify these implications. Twelve mothers of children diagnosed with ASD in childhood participated, with whom reflective interviews were carried out and two maps of significant social networks, one before and one after the ASD, were constructed. Data analysis was performed by using Grounded Theory. At the beginning of the interview, it was possible to observe that most participants reported the feeling of having no support, expressing helplessness. However, throughout the mapping process, a relevant change was noticed in the mothers' discourse, who recognized and were surprised by the presence of important members in their social networks, although, in their perspective, they do not provide them the necessary support. Therefore, the importance of activating the mothers' significant social networks is highlighted, as well as the instrumentalization of these networks so that they can be effectively present and provide support, emphasizing the important role of health and education professionals in this scenario. Finally, the network map is pointed out as a powerful clinical and research tool.(AU)
El diagnóstico de una enfermedad crónica en la familia tiende a trasformar las relaciones intra y extrafamiliares. En el caso del trastorno del espectro del autismo (TEA), este movimiento tiende a ocurrir de manera significativa con los vínculos maternos, ya que las madres son referidas como las principales cuidadoras de los niños con este diagnóstico. Este estudio tuvo por objetivo investigar el impacto del diagnóstico de TEA en las redes sociales maternas significativas y cómo las madres dieron sentido a estas implicaciones. Participaron en este estudio doce madres de niños diagnosticados con TEA en la infancia, y se utilizaron entrevistas reflexivas y mapas de redes sociales significativas, uno para antes y otro para después del TEA. El análisis de datos se basó en la teoría fundamentada. Al inicio de la entrevista, la mayoría de las participantes refirieron sentir que no tenían apoyo. Sin embargo, en el proceso de construcción de los mapas se vio un cambio en el discurso de las madres, quienes comenzaron a reconocer y sorprenderse por la presencia de vínculos importantes en sus redes sociales, aunque estos no les brindaran el apoyo necesario. Se resalta la importancia de activar las redes sociales significativas de las madres, así como la instrumentalización de estas redes para que puedan estar efectivamente presentes y brindar apoyo, enfatizando el papel de los profesionales de la salud y la educación. Además, se señala el mapa de la red como una poderosa herramienta clínica e investigativa.(AU)
Assuntos
Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Transtorno Autístico , Poder Familiar , Rede Social , Deficiências da Aprendizagem , Relações Pais-Filho , Psicologia , Autoimagem , Órgãos dos Sentidos , Isolamento Social , Apoio Social , Estresse Psicológico , Trabalho , Atividades Cotidianas , Adaptação Psicológica , Criança , Educação Infantil , Saúde Mental , Comunicação , Autonomia Pessoal , Amigos , Depressão , Diagnóstico , Educação Inclusiva , Ego , Equidade , Fadiga , Teoria Fundamentada , Transtornos do Neurodesenvolvimento , Capacitismo , Zeladoria , Individualidade , Relações Interpessoais , SolidãoRESUMO
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.
Assuntos
Humanos , Feminino , Transtorno Autístico , Apoio Social , MãesRESUMO
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)
Assuntos
Humanos , Pré-Escolar , Transtornos do Comportamento Infantil , Assistência Ambulatorial , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtorno do Espectro Autista , Transtornos do Desenvolvimento da Linguagem , Doença Crônica , Prevalência , Estudos RetrospectivosRESUMO
OBJECTIVE: To explore the relationship between well-child visit (WCV) attendance during early childhood and age at autism spectrum disorder (ASD) diagnosis using data drawn from a statewide all-payer claims database. STUDY DESIGN: We used a correlational study design with longitudinal data drawn from the Virginia All-Payer Claims Database. All children born in 2011 with a diagnosis of ASD were included (n = 253). Survival analysis determined the impact of WCV attendance on ASD diagnosis at each American Academy of Pediatrics-recommended early childhood visit, and the 5-year visit. RESULTS: Survival analysis revealed a significant impact of WCV attendance at the 24-month, 3-, and 4-year visits on earlier ASD diagnosis. Children who attended the 24-month visit were diagnosed nearly 10 months earlier than those who did not. Overall, children with ASD attended fewer than 50% of visits during early childhood. CONCLUSIONS: Promoting consistent WCV attendance during early childhood is an actionable strategy for improving early identification of ASD. Further exploration is needed to determine barriers to visit attendance and the impact of patterns of early childhood WCV attendance on age of ASD diagnosis. Development and implementation of interventions to promote adherence to the American Academy of Pediatrics-recommended visits is needed.
Assuntos
Transtorno do Espectro Autista/diagnóstico , Utilização de Instalações e Serviços/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Serviços Preventivos de Saúde/estatística & dados numéricos , Pré-Escolar , Diagnóstico Precoce , Feminino , Humanos , Lactente , Estudos Longitudinais , Masculino , Modelos de Riscos Proporcionais , Estudos Retrospectivos , VirginiaRESUMO
Because of a rich cultural history and excellent preservation of archaeological materials the south coast of the Central Andes is a region where many anthropological questions can be explored, using the latest methods and techniques. Over the last 20 years, multidisciplinary paleopathological studies have revealed interesting and unanticipated perspectives regarding the lives and cultures of the peoples who inhabited this region in pre-Hispanic times. This paper presents a panorama of these recent investigations, beginning with a review of the data sources - the collections of human remains - available for study, their numbers, preservation, accessibility, strengths and weaknesses. Then follows a revision of recent investigations, presenting new knowledge about temporal trends in human health in the region, including mortality curves, stature achieved in adulthood, porotic hyperososis, cribra orbitalia, linear enamel hypoplasias, dental caries, biochemical analysis, trauma, and violence. This review shows how the knowledge of the history of this region has increased but also the many new questions that have emerged. Hopefully this paper will encourage more investigation, as the collections of human remains from this region are abundant, well documented and well preserved.
Assuntos
Doença/história , Paleopatologia/tendências , Projetos de Pesquisa/tendências , Características Culturais , Difusão de Inovações , Doença/etnologia , Previsões , Nível de Saúde , História Antiga , Humanos , América do SulRESUMO
OBJECTIVE: To determine whether participation in a state early intervention program is associated with reduction in the age of diagnosis of autism spectrum disorder (ASD). STUDY DESIGN: State agency, Medicaid, and Census data were integrated for children with ASD enrolled in a Medicaid waiver between February 2007 and March 2015 (N = 1613). Ordinary least squares regression was used to estimate the relationship between participation in a state early intervention program and their age of diagnosis of ASD. RESULTS: The model explained 34% of variation in age of diagnosis (F[17,1595] = 49.20, P < .0001, adj R2 = 0.34). After adjustment for key variables, compared with children who did not participate in early intervention, children who did participate were diagnosed 2 years earlier (ß = -23.97, P < .0001). CONCLUSIONS: Although conducted in only 1 state, this study suggests that participation in early intervention programs may be instrumental in earlier diagnosis of ASD. These findings underscore the importance of identifying children who qualify for early intervention programs, the value of encouraging childhood professionals (eg, early care providers and educators) to refer given documented barriers to pediatrician referral, and the need for research that identifies the mechanisms by which programs may promote earlier diagnosis (eg, service coordination, parent support).
Assuntos
Transtorno do Espectro Autista/diagnóstico , Diagnóstico Precoce , Medicaid , Governo Estadual , Pré-Escolar , Intervenção Educacional Precoce , Intervenção Médica Precoce , Feminino , Acessibilidade aos Serviços de Saúde/economia , Humanos , Masculino , South Carolina , Estados UnidosRESUMO
BACKGROUND: Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH) also named runs of homozygosity (ROH). LCHS are chromosomal segments resulting from complete or segmental chromosomal homozygosity, which may be indicative of uniparental disomy (UPD), consanguinity, as well as replicative DNA repair events, however also are common findings in normal populations. Knowing common LCSH of a population, which probably represent ancestral haplotypes of low-recombination regions in the genome, facilitates the interpretation of LCSH found in patients, allowing to prioritize those with possible clinical significance. However, population records of ancestral haplotype derived LCSH by SNP arrays are still scarce, particularly for countries such as Brazil where even for the clinic, microarrays that include SNPs are difficult to request due to their high cost. METHODS: In this study, we evaluate the frequencies and implications of LCSH detected by Affymetrix CytoScan® HD or 750 K platforms in 430 patients with neurodevelopmental disorders in southern Brazil. LCSH were analyzed in the context of pathogenic significance and also explored to identify ancestral haplotype derived LCSH. The criteria for considering a region as LCSH was homozygosis ≥3 Mbp on an autosome. RESULTS: In 95% of the patients, at least one LCSH was detected, a total of 1478 LCSH in 407 patients. In 2.6%, the findings were suggestive of UPD. For about 8.5% LCSH suggest offspring from first to fifth grade, more likely to have a clinical impact. Considering recurrent LCSH found at a frequency of 5% or more, we outline 11 regions as potentially representing ancestral haplotypes in our population. The region most involved with homozygosity was 16p11.2p11.1 (49%), followed by 1q21.2q21.3 (21%), 11p11.2p11.12 (19%), 3p21.31p21.2 (16%), 15q15 1q33p32.3 (12%), 2q11.1q12.1 (9%), 1p33p32.3 (6%), 20q11.21q11.23 (6%), 10q22.1q23.31 (5%), 6p22.2p22 (5%), and 7q11.22q11.23 (5%). CONCLUSIONS: In this work, we show the importance and usefulness of interpreting LCSH in the results of CMA wich incorporate SNPs.
Assuntos
Cromossomos Humanos/genética , Homozigoto , Transtornos do Neurodesenvolvimento/genética , Análise de Sequência com Séries de Oligonucleotídeos , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Feminino , Haplótipos , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Adulto JovemRESUMO
OBJECTIVE: The objective was to investigate dental phenotypes in individuals with non-syndromic Pierre Robin Sequence (ns-PRS) and compare the prevalence of these phenotypes with subjects with non-syndromic cleft palate (ns-CP) and a control group with subjects without any craniofacial anomalies. METHODS: A total of 760 panoramic radiographs of 330 individuals (110 with ns-PRS; 110 with ns-CP and 110 without any malformations) were digitized and evaluated regarding the diagnosis of taurodontism, tooth agenesis, root dilaceration and tooth transposition. Chi-square test was applied to compare the occurrence of dental phenotypes between groups. A P value of less than 0.05 was considered statistically significant. RESULTS: Total prevalence of dental phenotypes was 94.5% of ns-PRS; 54.5% of ns-CP and 59.1% of the control group subjects with a statistically significant difference for the ns-PRS when compared to the other two groups. Two dental phenotypes, taurodontism and dental agenesis were identified with statistically significant higher prevalences in subjects with ns-PRS when compared with the ns-CP group and the control group (p < 0.001). Taurodontism was the most prevalent dental phenotype, with 92.73% in the ns-PRS group, 40.91% for ns-CP and 44.55% in the control group. Tooth agenesis had a prevalence of 22.7% for ns-PRS, 4.5% for ns-CP and no case in the control group. For the prevalence of root dilaceration and tooth transposition, no statistically significant differences were observed between the three groups. CONCLUSIONS: Due to the high frequency of taurodontism in individuals with ns-PRS, we suggested that this novel phenotype would be important in the phenotypic screening of ns-PRS and could be considered as a phenotype associated with ns-PRS.
Assuntos
Anodontia/diagnóstico por imagem , Anodontia/etiologia , Cavidade Pulpar/anormalidades , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/diagnóstico por imagem , Anormalidades Dentárias/diagnóstico por imagem , Anormalidades Dentárias/etiologia , Adolescente , Criança , Cavidade Pulpar/diagnóstico por imagem , Feminino , Humanos , Masculino , Fenótipo , Prevalência , Radiografia Panorâmica , Estudos Retrospectivos , Raiz Dentária/anormalidades , Raiz Dentária/diagnóstico por imagemRESUMO
Growth factors (GFs) are cytokines that regulate the neural development. Recent evidence indicates that alterations in the expression level of GFs during embryogenesis are linked to the pathophysiology and clinical manifestations of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). In this concise review, we summarize the current evidence that supports the role of brain-derived neurotrophic factor, insulin-like growth factor 2, hepatocyte growth factor (HGF), glial-derived neurotrophic factor, nerve growth factor, neurotrophins 3 and 4, and epidermal growth factor in the pathogenesis of ADHD and ASD. We also highlight the potential use of these GFs as clinical markers for diagnosis and prognosis of these neurodevelopmental disorders.
RESUMO
BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature. Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed. In addition, we used a next-generation sequencing approach for a molecular evaluation of FA disease-causing mutations and genes involved in the GH-IGF signaling pathway. RESULTS: Tests revealed low levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as well as a lack of response to GH stimulation. Sequencing confirmed a defect in the GH receptor signaling pathway. CONCLUSIONS: To the best of our knowledge, this study is the first to suggest an association between FA and LS. We propose that IGF-1 administration might improve some FA complications and functions based upon IGF-1 beneficial actions observed in animal, cell and indirect clinical models: erythropoiesis modulation, immune function improvement and metabolic regulation.
Assuntos
Anemia de Fanconi/complicações , Anemia de Fanconi/genética , Síndrome de Laron/complicações , Síndrome de Laron/genética , Estatura , Feminino , Hormônio do Crescimento Humano/sangue , Humanos , Proteína 3 de Ligação a Fator de Crescimento Semelhante à Insulina/sangue , Fator de Crescimento Insulin-Like I/metabolismo , Síndrome de Laron/patologia , México , Receptores da Somatotropina/sangue , Transdução de Sinais , Adulto JovemRESUMO
Abstract: Objective: This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods: IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR). Delphi surveys will be done on best practices for IDD diagnosis and management. An external evaluation will employ qualitative case studies of two social and labor inclusion programs for people with IDD. Conclusions: The results will constitute scientific evidence for the design, promotion and evaluation of public policies, which are currently absent on IDD.
Resumen: Objetivo: Esta investigación busca generar evidencia sobre trastornos del desarrollo intelectual (TDI) en México. Material y métodos: La carga de la enfermedad por TDI se estimará con un modelo probabilístico usando encuestas poblacionales. Se estimarán costos directos e indirectos de gastos catastróficos de familias con un integrante conTDI. La caracterización genómica deTDI incluirá secuenciar exomas, realizar análisis bioinformático para identificar variantes de novo o heredadas a través de análisis de tríos, identificar variantes genéticas asociadas con TDI, y validar variantes aleatoriamente seleccionadas con reacción en cadena de polimerasa y secuenciación o qPCR. Se harán encuestas Delphi sobre mejores prácticas de diagnóstico y manejo de TDI. Una evaluación externa empleará estudios cualitativos de caso de dos programas de inclusión social y laboral para personas con TDI. Conclusiones: Los resultados serán evidencia científica que podrá ser la base para el diseño, promoción y evaluación de políticas públicas, actualmente ausentes para TDI.
Assuntos
Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/economia , Deficiência Intelectual/genética , Deficiência Intelectual/terapia , Variação Genética , Doença Catastrófica/economia , Inquéritos e Questionários , Efeitos Psicossociais da Doença , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/economia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/genética , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/terapia , Custos e Análise de Custo , Genômica , Obesidade Infantil/diagnóstico , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/terapia , MéxicoRESUMO
Objetivo: Establecer la prevalencia de amenorrea primaria en la consulta de Endocrinología Ginecológica del Hospital Universitario de Caracas y las entidades nosológicas involucradas. Métodos: Estudio retrospectivo y descriptivo de las historias clínicas de las pacientes que consultaron por amenorrea primaria durante el período 2013 a 2015, quienes fueron categorizadas retrospectivamente en 4 grupos según el algoritmo diagnóstico de Mashchak. Resultados: El 6,48 % (46 / 710 pacientes) fueron casos de amenorrea primaria. La etiología comprendió: hipogonadismo-hipergonadotrópico (46,47 % / 7 casos), hipogonadismo-hipogonadotrópico (33,34% / 5 casos), síndrome de Rokitansky (6,67 % / 1 caso), defecto de acción de andrógeno (6, 67 % / 1 caso) y trastorno 46, XY ovotesticular (6,67 % / 1 caso). Conclusiones: La amenorrea primaria representa un motivo de consulta poco frecuente, pero la diversidad y complejidad de las patologías que la producen, ameritan el uso de esquemas que permitan un diagnóstico sencillo, el uso del algoritmo propuesto por Mashchak nos permitió un diagnóstico eficiente de los casos. La diversidad de estas patologías amerita un equipo multidisciplinario para un manejo adecuado.
Objectives: To establish the prevalence of primary amenorrhea in Gynecological Endocrinologic Unit of Hospital Universitario de Caracas; and the etiology involved. Method: Retrospective and descriptive study of medical records of patients who consulted for primary amenorrhea, during the period 2013-2015. Were retrospectively categorized into 4 groups according Mashchak algoritm. Results: 6.48 % (46/710 patients) were cases of primary amenorrhea. The etiology includeded: hypogonadism hypergonadotropic (46.47 %/7 cases), hypogonadotropic hypogonadism (33.34 % / 5 cases), Rokitansky syndrome (6,67 % / 1 case), defect in androgen action (6. 67 % / 1 case), disorder 46, XY ovotesticular (6.67 % / 1 case). Conclusions: With a wide diversity and complexity of pathologies that produce primary amenorrhea, it requires the use of diagnostic categories based on physical examination and a minimal laboratory investigation that allow a simple diagnosis. In this sense, using the algoritm proposed by Mashchak allowed us to efficiently diagnose the aforementioned cases. The diversity of these diseases requires the inclusion of a multidisciplinary team in orden to achieve a proper management.
RESUMO
Developmental dental disorders may be due to anomalies in tooth number, size, shape and structure. Gemination and fusion are anomalies of shape with close similarity but with different etiology. Gemination and fusion are anomalies of shape with close similarity but with different etiology. The etiology of germination is not fully understood environmental factors such as trauma, vitamin deficiencies, systemic diseases and certain genetic predisposition have been suggested as possible causes. A 9 year old male patient reported to the department of pedodontics and preventive dentistry Dr R Ahmed Dental College & Hospital with the chief complaint of unaesthetic upper front teeth on clinical examination. It was found that the upper central incisors were markedly large in size with buccolingual grooves present partially separating two halves of crown. The incisors were caries free and there was no history of pain or any discomfort. Since the roots were not completely formed the patient was kept on follow up for the treatment to be delivered.
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Cultural beliefs may influence parents' willingness to raise concerns on a developmental screener. Our study evaluated the performance of the Parents' Evaluation of Developmental Status (PEDS) in an urban community health center where 75% of families are Spanish speaking. Our primary outcome was the presence of parent-reported concerns either in the medical record or on the PEDS before the PEDS was introduced compared with after it became routine care (post-PEDS). Covariates included family language and child age, gender, and risk status. The adjusted odds of a concern being identified was 1.5 times greater in the post-PEDS period for Developmental concerns and 2.1 times greater for Behavioral concerns. There was no association with family language indicating that the PEDS performs equally well for English- and Spanish-speaking families. The systematic inclusion of developmental screening as part of culturally competent primary care may aid in reducing current disparities in the identification of developmental concerns.
Assuntos
Deficiências do Desenvolvimento/diagnóstico , Emigrantes e Imigrantes , Hispânico ou Latino/etnologia , Idioma , Atenção Primária à Saúde/métodos , Inquéritos e Questionários , Pré-Escolar , Deficiências do Desenvolvimento/etnologia , República Dominicana/etnologia , Feminino , Humanos , Lactente , Masculino , Pais , Fatores Socioeconômicos , População UrbanaRESUMO
En el 2015, el Ministerio Colombiano de Salud y Protección Social, socializó el protocolo de evaluación e intervención para pacientes con Trastorno de espectro autista, aceptando las referencias del DSM-5; este protocolo incluyó técnicas de evaluación e intervención integral, que si bien son significativas, no resultan suficientes para la atención de una población vulnerable con múltiples dificultades. Por tal razón, se ha sugerido continuar con procesos de educación, sensibilización y justificación en un plano científico y político para la comprensión y análisis de una problemática en la que aún no se tiene grandes certezas.
In 2015, the Colombian Ministry of Health and Social Protection, socialized the evaluation and intervention protocol for patients with Autism Spectrum Disorder, accepting DSM-5 references; This protocol included comprehensive evaluation and intervention techniques, which, although significant, are not sufficient for the care of a vulnerable population with multiple difficulties. For this reason, it has been suggested to continue with processes of education, awareness and justification in a scientific and political level for the understanding and analysis of a problem in which we do not yet have great certainties.
Assuntos
Humanos , Transtorno do Espectro Autista , Transtornos Globais do Desenvolvimento Infantil , Transtornos do Neurodesenvolvimento , Transtornos Mentais , Neuropsicologia/métodosRESUMO
Abstract This study aimed to investigate the behavior and social profile of Brazilian children with specific language impairment (SLI) and explore whether the severity of language deficits was associated with behavioral problems and low social competence. Twenty-four children with SLI aged from 6 to 11 years who showed substantial expressive language problems and were receiving speech-language therapy were assessed through the Child Behavior Checklist (CBCL). Children with SLI showed high rates of behavioral problems and low levels of social competence. With the exception of two subscales ("somatic" and "rule breaker"), the percentage of children with SLI at risk of behavioral problems was significantly higher than the same proportion in the general population; and almost all children with SLI (95.2 %) demonstrated problems with social competence. The severity of language deficits was associated with the risk of behavioral problems according to only one criterion. No associations were found between the severity of language problems and social competence. The study provides cross-cultural evidence to support the existence of behavior problems and reduced social competence in children with SLI. Our findings point to the need of using a combination of measures to classify the severity of language problems rather than a single dimension. (AU)
Assuntos
Humanos , Masculino , Feminino , Criança , Transtornos do Comportamento Infantil/psicologia , Transtornos da Linguagem/psicologia , Habilidades Sociais , Estudos TransversaisRESUMO
Being socially connected directly impacts our basic needs and survival. People with deficits in social cognition might exhibit abnormal behaviors and face many challenges in our highly social-dependent world. These challenges and limitations are associated with a substantial economical and subjective impact. As many conditions where social cognition is affected are highly prevalent, more treatments have to be developed. Based on recent research, we review studies where non-invasive neuromodulatory techniques have been used to promote Social Plasticity in developmental disorders. We focused on three populations where non-invasive brain stimulation seems to be a promising approach in inducing social plasticity: Schizophrenia, Autism Spectrum Disorder (ASD) and Williams Syndrome (WS). There are still very few studies directly evaluating the effects of transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) in the social cognition of these populations. However, when considering the promising preliminary evidences presented in this review and the limited amount of clinical interventions available for treating social cognition deficits in these populations today, it is clear that the social neuroscientist arsenal may profit from non-invasive brain stimulation techniques for rehabilitation and promotion of social plasticity.
RESUMO
Introducción: El objetivo principal de este artículo es revisar algunos conceptos esenciales para comprender la forma tradicional en la que la neuropsicología concibe las dificultades del desarrollo infantil, y proponer un modelo alternativo para comprender esta problemática de manera integral. Desarrollo: Médicos, psicólogos, terapeutas y docentes conciben las dificultades del desarrollo como el resultado de un problema neurobiológico, susceptible de ser identificado y tratado. Este postulado, que es ampliamente utilizado en la actualidad por los equipos interdisciplinarios, constituye el enfoque predominante y la posición tradicional para la evaluación e intervención en medicina, psicología y educación. El modelo tradicional, conocido como el modelo del déficit, conceptualiza las dificultades del desarrollo infantil como un problema esencialmente neurobiológico, sin tener en cuenta los diferentes aspectos del entorno familiar y escolar, los cuales tienen una importancia capital, no solamente para el desarrollo del niño, sino también en la génesis de sus dificultades. Esto explica por qué los esfuerzos que se invierten en la rehabilitación y en la educación del niño con dificultades tienen un éxito limitado. Por el contrario, la neuropsicología ecológica o transaccional es un enfoque que considera al niño de forma integral, relacionado con su entorno social, familiar y cultural. Conclusión: La conceptualización e interpretación integral de estos fenómenos conduce a una intervención holística donde se evalúa cada elemento del problema, lo que lleva a proponer un modelo en el que el ambiente cumple un papel preponderante en la génesis y en la búsqueda de soluciones de las dificultades del desarrollo infantil.
Introduction: The main objective of this article is to review some essential concepts to understanding the traditional way in which neuropsychology conceives difficulties in child development, and to propose an alternative model for integrally understanding this problematic. Development: Physicians, psychologists, therapists, and teachers conceive difficulties in development as a result of a neuro-biological problem that can be subject of identification and treatment. This premise, widely used currently by interdisciplinary staffs, is the prevailing focus and the traditional position to evaluate and intervene in medicine, psychology and education. The traditional model, known as the deficit model, conceptualizes the difficulties in child development as being essentially neuro-biological, without considering the various aspects of both family and school environments, which are of paramount importance not only for the child development, but also in the genesis of its difficulties. This explains why efforts invested in the rehabilitation and education of the child with difficulties have a limited success. In contrast, the ecological or transactional neuropsychology is an approach that considers the child in a comprehensive manner, relating with its social, family and cultural environment. Conclusion: Integrally conceptualizing and interpreting these phenomena leads to a holistic intervention where each element of the problem is assessed, leading to the proposal of a model in which the environment plays a crucial role in the genesis of the difficulties in child development, and the search for solutions.
Introdução: O objetivo principal deste artigo é revisar alguns conceitos essenciais para compreender a forma tradicional como a neuropsicologia concebe as dificuldades do desenvolvimento infantil e propor um modelo alternativo para compreender esta problemática de maneira integral. Desenvolvimento: Médicos, psicólogos, terapeutas e docentes concebem as dificuldades do desenvolvimento como o resultado de um problema neurobiológico, susceptível de ser identificado e tratado. Este postulado, que é amplamente utilizado na atualidade pelas equipes interdisciplinares, constitui o enfoque predominante e a posição tradicional para a avaliação e intervenção em medicina, psicologia e educação. O modelo tradicional, conhecido como o modelo do déficit, conceitua as dificuldades do desenvolvimento infantil como um problema essencialmente neurobiológico, sem ter em conta os diferentes aspectos do entorno familiar e escolar, os quais têm uma importância capital, não só para o desenvolvimento da criança, mas também na gênese de suas dificuldades. Isto explica por que os esforços que se intervêm na reabilitação e na educação da criança com dificuldades têm um sucesso limitado. Pelo contrário, a neuropsicologia ecológica ou transacional é um enfoque que considera à criança de forma integral, relacionado com seu entorno social, familiar e cultural. Conclusão: A conceptualização e interpretação integral destes fenômenos, conduz a uma intervenção holística onde se avalia cada elemento do problema, levando a propor um modelo no que o ambiente joga um papel preponderante na gênese, e na busca de soluções, das dificuldades do desenvolvimento infantil.
Assuntos
Humanos , Neuropsicologia , Desenvolvimento Infantil , Educação , Meio Ambiente , Deficiências da AprendizagemRESUMO
O presente trabalho teve como objetivo identificar as produções científicas nacionais e internacionais que tiveram como foco a investigação da relação entre criatividade e dificuldades/transtornos de aprendizagem. Em nível nacional foram consultadas as bases de dados SCIELO, PEPSIC, CAPES e BDTD e no internacional, as bases APA, ERIC, PubMed e Scopus, sem delimitação de tempo. Como resultado, constatou-se a existência de 57 produções internacionais e cinco nacionais. As análises identificaram que não houve diferenças estatísticas significativas entre as médias das produções das últimas três décadas e que as investigações focalizaram principalmente o transtorno específico de leitura/Dislexia, o uso da metodologia quantitativa e o emprego do Teste de Torrance. Alguns nomes dados aos grupos investigados na maioria dos trabalhos não denotaram com clareza as origens das dificuldades de aprendizagem - se seriam ou não decorrentes de transtorno de aprendizagem. Concluiu-se que são necessários novos estudos sobre a temática, nos quais se caracterizem melhor os grupos investigados e a nomenclatura utilizada.
This study aimed to characterize the national and international scientific production focused on investigating the relationship between creativity and difficulties / learning disabilities. Nationally were consulted the SCIELO databases, PEPSIC, CAPES and BDTD and internationally the APA bases, ERIC, PubMed and Scopus without delimitation of time. The results indicated the existence of 57 international and five domestic productions. The analysis found that there were no significant statistical differences between the averages of the past three decades productions; the investigations have focused mainly on the specific reading disability/Dyslexia; use of quantitative methodology; and using the Torrance Test. Some classifications given to groups investigated in most studies do not denote clearly the origins of learning disabilities, whether they were or not resulting from the learning disorder. We conclude that further studies are needed on the subject, provided there is a better characterization of the investigated groups and classifications used.
El presente estudio tuvo como objetivo caracterizar la producción científica nacional e internacional centrada en la investigación de la relación entre creatividad y dificultades/trastornos de aprendizaje. Nacionalmente se consultaron las bases de datos SCIELO, PEPSIC, CAPES y BDTD e internacionalmente de las bases APA, ERIC, PubMed y Scopus, sin delimitación de tiempo. Los resultados indicaron la existencia de 57 producciones internacionales y cinco nacionales. Los análisis identificaron que no hubo diferencias estadísticas significativas entre las medias de las producciones de las últimas tres décadas; investigaciones más centrada en el trastorno específico de la lectura/Dislexia; uso de la metodología cuantitativa; y la utilización del Test de Torrance. Algunas nomenclaturas dadas a los grupos investigados en la mayoría de los trabajos no denotaron con clareza as orígenes de las dificultades de aprendizaje, si serían o no derivados de trastorno de aprendizaje. Se concluye que son necesarios nuevos estudios sobre la temática, desde que haya mejor caracterización de los grupos investigados y de las nomenclaturas utilizadas.