RESUMO
O objetivo da tese é analisar as narrativas de oito mães de crianças cegas congênitas, matriculadas no Instituto Benjamin Constant. O estudo abrange itinerários terapêuticos, arranjos de cuidados e experiências maternas. Utilizaram-se os postulados teóricos sobre narrativas de Ricoeur e a análise foi feita sob o marco teórico de Bardin. Optou-se pelo itinerário terapêutico como método de pesquisa, por valorizar as histórias de vidas das mães que participaram da pesquisa. A narrativa reforçou a utilização de metodologias participativas e inclusivas, baseadas no respeito, na solidariedade e na cooperação. As narrativas mostraram que as mães, após o primeiro itinerário, que é na maternidade, encontram na figura do médico pediatra o auxílio que as orienta sobre quais os itinerários a percorrer. Em seguida, elas procuram o oftalmologista, mais especificamente o retinólogo e, também, o neuropediatra. A chegada ao IBC acontece depois da confirmação derradeira da cegueira do filho. As mães das crianças e adolescentes matriculados no IBC permanecem no espaço do Instituto, diariamente, enquanto seus filhos estão em aula ou em algum atendimento. Essa permanência se justifica por razão da distância entre o IBC e suas casas. A espera permite compartilharem, com outras mães, situações vivenciadas para o fortalecimento de vínculos de afetos, mas também existem tensões. O estudo apontou, ainda, que o discurso iatrogênico, com palavras ou ações de alguns médicos, causou ansiedade, desconfiança, confusão e sentimento de desrespeito. Outro dado relevante, encontrado por meio das narrativas, foi a dificuldade que encontraram ao transitarem nos espaços públicos com seus filhos, por causa de barreiras atitudinais. Ainda segundo as narrativas, o cuidado que elas dispensam quase que integralmente aos seus filhos (as), apesar de toda a sobrecarga que relatam, não é considerado um trabalho, pelo fato de não ser remunerado. As mães entendem que a tarefa de cuidar é um ato de amor para com o filho e, não, um trabalho. Por fim, a pesquisa também investigou os impactos que a pandemia de COVID 19 ocasionou nas vidas das mães e de seus filhos, surgindo como principais desafios o afastamento do espaço da escola e o manejo das aulas on-line. (AU)
The objective of the thesis is to study the narratives of eight mothers of congenitally blind children enrolled at the Benjamin Constant Institute. The study covers therapeutic journeys, care arrangements, and maternal experiences. Theoretical postulates on narratives by Ricoeur were utilized, and the analysis was conducted within the theoretical framework of Bardin. The therapeutic journey was chosen as the research method, as it values the life stories of the participating mothers. The narrative reinforced the use of participatory and inclusive methodologies based on respect, solidarity, and cooperation. The narratives showed that mothers, after the initial journey in maternity, seek guidance from pediatricians on the paths to take. They then consult ophthalmologists, specifically retinologists, and neuropediatricians. Arrival at the IBC occurs after the final confirmation of the child's blindness. Mothers of children and adolescents enrolled at the IBC stay at the Institute daily while their children are in class or receiving some form of assistance. This stay is due to the distance between the IBC and their homes. Waiting allows them to share experiences with other mothers, strengthening emotional bonds, but tensions also exist. The study also pointed out that iatrogenic discourse, with words or actions from some doctors, caused anxiety, mistrust, confusion, and feelings of disrespect. Another significant finding from the narratives was the difficulty they encountered when navigating public spaces with their children due to attitudinal barriers. According to the narratives, the care they provide to their children, despite the reported burden, is not considered work because it is unpaid. Mothers view caregiving as an act of love for their children, not as a job. Finally, the research also investigated the impacts of the COVID-19 pandemic on the lives of the mothers and their children, with the main challenges being the separation from the school environment and the management of online classes. (AU)
Assuntos
Humanos , Cegueira/congênito , Narrativa Pessoal , Itinerário Terapêutico , Mães/psicologia , Brasil , Cuidado da Criança , COVID-19RESUMO
Introdução: O nascimento de um filho com deficiência pode alterar rotinas e influenciar no processo de adaptação dos pais, por se caracterizar como um acontecimento não esperado. Ainda pode produzir nos progenitores sentimentos semelhantes aos vivenciados em um processo de luto. Objetivo: Analisar a relação entre a adaptação parental à filha com cegueira congênita e disfagia, relacionadas à prematuridade extrema, e seu possível impacto no processo de adesão às orientações terapêuticas sobre a alimentação da criança. Método: Trata-se de um estudo de caso de cunho qualitativo. Foi realizada uma análise da adaptação parental à deficiência, e avaliações fonoaudiológicas da linguagem e da disfagia. Resultados: A avaliação fonoaudiológica evidenciou disfagia para líquidos finos e ausência de alterações de linguagem. A restrição alimentar tornou-se evidente a partir da dificuldade parental em aceitar e seguir as orientações quanto à consistência alimentar. A análise dos dados de adaptação parental à deficiência da filha sugere que essa dificuldade esteve relacionada à aceitação da cegueira e da disfagia. A emergência de restrição alimentar esteve relacionada às dificuldades na aceitação das orientações fonoaudiológicas por parte dos pais, considerando a disfagia para líquidos finos. Essas dificuldades encontram um correlato na análise da adaptação parental do pai e da mãe. Conclusão: Evidencia-se a importância do acompanhamento por uma equipe interdisciplinar.
Introduction: The birth of a child with a disability can change routines and influence the parents' adaptation process, as it is characterized as an unexpected event. It can still produce similar feelings in parents as those experienced in a grieving process. Objective: To analyze the relationship between parental adaptation to the daughter with congenital blindness and dysphagia, related to extreme prematurity, and its possible impact on the process of adherence to therapeutic guidelines on child nutrition. Method: This is a qualitative case study. An analysis of parental adaptation to disability as well as language therapy assessments of language and dysphagia were performed. Results: The speech therapy evaluation showed dysphagia for fine liquids and absence of language disorders. Dietary restriction became evident from the parental difficulty in accepting and following the guidelines regarding food consistency. The analysis of the parental adaptation data to the daughter's disability suggests that this difficulty was related to the acceptance of blindness and dysphagia. The emergence of food restriction was related to the difficulties in parents' acceptance of speech therapy guidelines, considering dysphagia for thin liquids. These difficulties find a correlate in the analysis of the father and mother's parental adaptation. Conclusion: The importance of monitoring by an interdisciplinary team is evident.
Introducción: El nacimiento de un niño con discapacidad puede cambiar las rutinas y estilos de vida de los padres, ya que se caracteriza por ser un evento inesperado. Todavía puede producir sentimientos similares en los padres a los que experimentaron en un proceso de duelo. Objetivo: Analizar la relación entre la adaptación de los padres a la hija con ceguera congénita y disfagia, relacionada con la prematuridad extrema, y ââsu posible impacto en el proceso de adherencia a las guías terapéuticas en nutrición infantil. Método: Este es un estudio de caso cualitativo. Se realizó un análisis de la adaptación de los padres a la discapacidad y la evaluación del habla y el lenguaje de la disfagia. Resultados: La evaluación de logopedia mostró disfagia por líquidos finos y ausencia de trastornos del lenguaje. La restricción dietética se hizo evidente por la dificultad de los padres para aceptar y seguir las pautas con respecto a la consistencia de los alimentos. El análisis de los datos de adaptación de los padres a la discapacidad de la hija sugiere que esta dificultad estaba relacionada con la aceptación de la ceguera y la disfagia. La aparición de la restricción alimentaria se relacionó con las dificultades en la aceptación por parte de los padres de las pautas de logopedia, considerando la disfagia por líquidos diluidos. Estas dificultades encuentran correlación en el análisis de la adaptación parental del padre y la madre. Conclusión: Es evidente la importancia del seguimiento por parte de un equipo interdisciplinario.
Assuntos
Humanos , Feminino , Recém-Nascido , Pré-Escolar , Adaptação Psicológica , Transtornos de Deglutição , Cegueira/congênito , Dietoterapia , Pais/educação , Pais/psicologia , Equipe de Assistência ao Paciente , Recém-Nascido Prematuro , Pesquisa Qualitativa , Nutrição da Criança/educaçãoRESUMO
Autism spectrum disorders affected 19 of 38 unselected children at a school for the blind in Cordoba, Argentina. Autism was linked to total congenital blindness, not blindness' etiology, acquired or incomplete blindness, sex, overt brain damage, or socioeconomic status. Autism "recovery," had occurred in 4 verbal children. Congenital blindness causes profoundly deviant sensory experience and massive reorganization of brain connectivity. Its ≥ 30 times greater prevalence than in sighted children suggests a distinct pathogenesis. Unawareness of autism's high prevalence in blind individuals includes blindness' rarity, misunderstanding of autism as "disease" rather than dimensional behavioral diagnosis, reluctance to diagnose it in blind children, and ignorance of its potentially more favorable outcome. Future investigation may suggest interventions to prevent or mitigate it.
Assuntos
Transtorno do Espectro Autista/epidemiologia , Cegueira/epidemiologia , Adolescente , Cegueira/congênito , Criança , Pré-Escolar , Comorbidade , Humanos , Masculino , Prevalência , Fatores de Risco , Espanha/epidemiologiaRESUMO
Cerebellum regulates motor control and physical coordination. It is known that when eye and hand need to be worked in combination, cerebellum is active and it provides coordination between eye and hand. Cerebellar cortex atrophy appears with dismetry and saccadic eye movement. If there is no stimulant related to vision, how cerebellum is adopted under this circumstance? In order to explore this, 27 male and 16 female volunteers with bilateral congenital blindness were compared with 35 male and 33 female healthy volunteers in this study. MR images of cross-sectional sequential cerebellum of volunteers with 1.5 mm thickness were realized in coronal plane. The surface area of apparent cerebellum seen in cross-sections was calculated by using Onis (Ver. 2.1) programme. Surface area data obtained by systematic randomized sampling were converted to volume by Cavalieri method. Cerebellar volume of bilateral congenital blind male was 128.15 ± 11.11 cm3, and cerebellar volume of bilateral congenital blind female was 118.60 ±10.73 cm3. Cerebellar volume for healthy men and women were 132.89 ± 12.51 cm3 and 125.97 ± 10.78 cm3, respectively. It was revealed that cerebellar volume for bilateral congenital blind men was smaller than that of healthy men, but this difference was not significant. On the other hand cerebellar volume of bilateral congenital blind women was significantly smaller than that of healthy women (p<0.05). No asymmetry was detected between right and left side of cerebellum in both bilateral congenital blind and healthy subjects.
Cuando el ojo y la mano necesitan trabajar de manera combinada, el cerebelo se activa y proporciona la coordinación entre éstos. La atrofia de la corteza cerebelosa aparece con dismetría y movimientos oculares sacádicos. Si no hay estimulantes de la visión, ¿cómo se adapta el cerebelo en esta circunstancia? Se realizó un estudio con sujetos voluntarios, 27 hombres y 16 mujeres con ceguera congénita bilateral los cuales fueron comparados con 35 hombres y 33 mujeres sanas. Se realizó la toma de imágenes resonancia magnética, obteniendo secciones transversales del cerebelo de manera secuencial con espesor de 1,5 mm en el plano coronal. El área superficial aparente del cerebelo observada en las secciones ransversales se calculó mediante el uso del software Onis (Ver. 2,1). Los datos de superficie obtenidos mediante muestreo aleatorio sistemático fueron utilizados para calcular el volumen utilizando el método de Cavalieri. El volumen cerebelar bilateral de los hombres con cegera congénito fue 128,15±11,11 cm3 y mujeres fue 118,60±10,73 cm3. Los volumenes del cerebelo en hombres y mujeres sanos fueron 132,89±12,51 cm3 y 125,97±10,78 cm3, respectivamente. Se reveló que el volumen del cerebelo de los hombres con cegera bilateral congénita fue menor que el de los hombres sanos, pero esta diferencia no fue significativa. Por otro lado el volumen del cerebelo de las mujeres con cegera bilateral congénita fue significativamente menor que el de mujeres sanas (p <0,05). No se detectó asimetría entre el lado derecho e izquierdo del cerebelo, tanto en sujetos con cegera bilateral congénita como sujetos sanos.
Assuntos
Humanos , Masculino , Feminino , Adulto , Cerebelo/anatomia & histologia , Cegueira/congênito , Tamanho do Órgão , Cerebelo/diagnóstico por imagem , Análise de VariânciaRESUMO
The purpose of this study was to determine whether or not blind children perseverate during a modified Piagetian A-not-B reaching task, with conditions that employ luminous AB targets and acoustic AB targets. Ten congenitally blind children, ages 1-4 years, with residual vision for light, took part in this study. Behavioral and kinematic data were computed for participants' reaches, performed in six A trials and in two B trials, in both stimulus conditions. All of the children perseverated in the luminous condition, and none of them perseverated in the condition using acoustic targets. The children tilted their heads in the direction of the target as they reached towards it. However, this coupling action (head-reaching) occurred predominantly in the A trials in the acoustic condition. In the luminous condition, in contrast to the acoustic condition, the children took longer times to initiate the reaching movement. Also, in the luminous condition, the children explored the target surroundings, unlike the acoustic condition, in which they reached straight ahead. For these blind children, sound was more relevant to reaching than was the luminous stimulus. The luminous input caused perseveration in congenitally blind children in a similar way that has been reported in the literature for typically-developing, sighted infants, ages 8-12 months, performing A-not-B tasks with visual inputs.
Assuntos
Cegueira/fisiopatologia , Desenvolvimento Infantil/fisiologia , Desempenho Psicomotor/fisiologia , Pessoas com Deficiência Visual , Estimulação Acústica , Fenômenos Biomecânicos/fisiologia , Cegueira/congênito , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estimulação LuminosaRESUMO
Objective: To analyze postural control in acquired and congenitally blind adults. Methods: A total of 40 visually impaired adults participated in the research, divided into 2 groups, 20 with acquired blindness and 20 with congenital blindness - 21 males and 19 females, mean age 35.8 ± 10.8. The Brazilian version of Berg Balance Scale and the motor domain of functional independence measure were utilized. Results: On Berg Balance Scale the mean for acquired blindness was 54.0 ± 2.4 and 54.4 ± 2.5 for congenitally blind subjects; on functional independence measure the mean for acquired blindness group was 87.1 ± 4.8 and 87.3 ± 2.3 for congenitally blind group. Conclusion: Based upon the scale used the results suggest the ability to control posture can be developed by compensatory mechanisms and it is not affected by visual loss in congenitally and acquired blindness.
Objetivo: Analisar o controle postural de indivíduos adultos com cegueira completa congênita e adquirida. Métodos: Fizeram parte da pesquisa 40 sujeitos, divididos em 2 grupos (20 com deficiência visual adquirida e 20 com deficiência visual congênita - 21 homens e 19 mulheres, média de idade 35,8 ± 10,8). Os instrumentos utilizados foram a versão brasileira da Escala de Equilíbrio de Berg e o domínio motor da medida de independência funcional. Resultados: Na Escala de Equilíbrio de Berg a média do grupo com deficiência visual adquirida foi 54,0 ± 2,4 e no grupo com deficiência visual congênita foi 54,4 ± 2,5; na medida de independência funcional a média do grupo com deficiência visual adquirida foi 87,1 ± 4,8 e no grupo com deficiência visual congênita foi 87,3 ± 2,3. Conclusão: Baseado no instrumento utilizado, os resultados sugerem que a habilidade de controlar a postura pode ser adquirida por meio de mecanismos compensatórios, não sendo afetada pela perda visual em cegos congênitos e adquiridos.
Assuntos
Cegueira/congênito , Pessoas com Deficiência VisualRESUMO
Objetivos: Quando a visão de um olho está preservada (visão monocular) e há alto risco, baixo prognóstico e/ou recursos limitados para a cirurgia do olho contralateral, não é claro se o beneficio da binocularidade supera o da reorientação para visão monocular. O objetivo é quantificar o impacto da qualidade de visão referida entre a condição binocular e monocular e, nesse último caso, entre congênita e adquirida. Métodos: Pacientes com acuidade visual (AV) com AV>0,5 em cada olho foram submetidos ao questionário estruturado de 14 perguntas (VF-14), onde a pontuação de 0 a 100 indica o nível de satisfação do paciente com sua visão, variando de baixo a alto respectivamente. Dados epidemiológicos e pontuações dos quatro grupos foram registrados e submetidos à análise estatística. Resultados: A entrevista pelo VF-14 com 56 indivíduos revelou que a pontuação mais alta foi similar entre os controles e os portadores de visão monocular congênita, e níveis intermediários e baixos foram obtidos por indivíduos com visão monocular adquirida e cegos bilaterais, respectivamente (p<0,001). As atividades mais difíceis para os indivíduos com visão monocular adquirida foram identificar letras pequenas, reconhecer pessoas, distinguir sinais de trânsito e assistir TV. Conclusão: O estudo confirmou que a perda da visão tem impacto desfavorável no desempenho referido das atividades sendo maior na visão monocular adquirida do que na congênita. Os dados sugerem que medidas de reabilitação devem ser consideradas para melhorar a qualidade da visão em doenças intratáveis ou de alto risco ou de baixo prognóstico.
Purpose: When the vision in one eye is preserved (monocular vision) and there is high risk, low prognosis and/or limited resources to the fellow eye surgery, it is unclear if the benefit of binocularity outweighs the reorientation for monocular vision. The goal is to quantify the impact of the quality of vision of both binocular and monocular condition, and in this latter case, between congenital and acquired. Methods: Patients with visual acuity (VA)>0.5 in each eye underwent a structured questionnaire of 14 questions (VF-14), which the score 0-100 indicates the level of patient satisfaction with their vision, ranging from low to high respectively. Epidemiological data and scores of the four groups were recorded and analyzed statistically. Results: The interview by the VF-14 with 56 subjects revealed that the highest score was similar between controls and patients with congenital monocular vision, and low and intermediate levels were obtained by individuals with acquired monocular vision and bilaterally blind, respectively (p<0.001). The more difficult activities for individuals with acquired monocular vision were to identify small print, recognize people, to distinguish traffic lights and watch TV. Conclusion: The study confirmed that the vision loss has an adverse impact on the performance of such activities being higher in congenital than in acquired monocular vision. The data suggest that rehabilitation measures should be considered to improve the quality of vision in intractable diseases, high risk or low prognosis.
Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Cegueira/fisiopatologia , Autoavaliação Diagnóstica , Visão Monocular/fisiologia , Cegueira/congênito , Cegueira/epidemiologia , Cegueira/etiologia , Brasil/epidemiologia , Estudos de Casos e Controles , Qualidade de Vida , Distribuição por Sexo , Inquéritos e Questionários , Visão Binocular/fisiologia , Visão Monocular/genética , Acuidade Visual/fisiologiaRESUMO
PURPOSE: When the vision in one eye is preserved (monocular vision) and there is high risk, low prognosis and/or limited resources to the fellow eye surgery, it is unclear if the benefit of binocularity outweighs the reorientation for monocular vision. The goal is to quantify the impact of the quality of vision of both binocular and monocular condition, and in this latter case, between congenital and acquired. METHODS: Patients with visual acuity (VA)>0.5 in each eye underwent a structured questionnaire of 14 questions (VF-14), which the score 0-100 indicates the level of patient satisfaction with their vision, ranging from low to high respectively. Epidemiological data and scores of the four groups were recorded and analyzed statistically. RESULTS: The interview by the VF-14 with 56 subjects revealed that the highest score was similar between controls and patients with congenital monocular vision, and low and intermediate levels were obtained by individuals with acquired monocular vision and bilaterally blind, respectively (p<0.001). The more difficult activities for individuals with acquired monocular vision were to identify small print, recognize people, to distinguish traffic lights and watch TV. CONCLUSION: The study confirmed that the vision loss has an adverse impact on the performance of such activities being higher in congenital than in acquired monocular vision. The data suggest that rehabilitation measures should be considered to improve the quality of vision in intractable diseases, high risk or low prognosis.
Assuntos
Cegueira/fisiopatologia , Autoavaliação Diagnóstica , Visão Monocular/fisiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Cegueira/congênito , Cegueira/epidemiologia , Cegueira/etiologia , Brasil/epidemiologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Distribuição por Sexo , Inquéritos e Questionários , Visão Binocular/fisiologia , Visão Monocular/genética , Acuidade Visual/fisiologia , Adulto JovemRESUMO
UNLABELLED: Osteoporosis-pseudoglioma (OPPG) is a rare syndrome characterized by severe osteoporosis and ocular defects caused by homozygotic inactivation mutations in the LRP5 gene. Bisphosphonate has been demonstrated to improve bone mineral density (BMD) in children with OPPG. We present here a 3 years follow-up of two brothers with OPPG carrying a novel mutation in the LRP5 gene, who were treated with intravenous pamidronate. PATIENT REPORT: We looked for a mutation in the LRP5 gene in two brothers (12 and 4 years old) with clinical features of OPPG (blindness, low BMD and fragility fractures) and in their consanguineous parents to confirm the diagnosis of OPPG. The patients were treated with bisphosphonate for 3 years. They received 1 mg/kg/day of pamidronate for 2 consecutive days, every 3 months during the first year, and every 4 months in subsequent years. Calcium, phosphorus, total alkaline phosphatase, parathyroid hormone, hepatic transaminases, creatinine and hemogram tests were performed before each infusion. Bone densitometry was performed at baseline and at the end of the follow-up. RESULTS AND CONCLUSION: The affected brothers carry a missense mutation in the third codon of exon 8 (AAT-->ATT) that led to the exchange of an asparagine for an isoleucine (N531I). Both parents were found to be heterozygous for this mutation. The intravenous pamidronate therapy was safe for up to 3 years of use. Moreover, increased BMD and decreased fracture rate were observed in our patients with OPPG.
Assuntos
Cegueira/complicações , Difosfonatos/uso terapêutico , Proteínas Relacionadas a Receptor de LDL/genética , Osteoporose/complicações , Irmãos , Antineoplásicos/uso terapêutico , Cegueira/congênito , Cegueira/genética , Densidade Óssea/efeitos dos fármacos , Conservadores da Densidade Óssea/uso terapêutico , Criança , Pré-Escolar , Consanguinidade , Seguimentos , Fraturas Ósseas/prevenção & controle , Humanos , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade , Masculino , Mutação , Osteoporose/genética , Pamidronato , Linhagem , SíndromeRESUMO
The aim of this work was to analyze electromyographically the facial muscles: orbicularis oris (upper and lower fascicles), orbicularis oculi (right and left lateral portions) and frontal, in blind and clinically normal (control) individuals, in various clinical conditions. Electromyographic averages of all data collected were normalized by maximal voluntary contraction of the studied muscles and statistical analysis was performed by Student's t test, using "Statistical Package for the Social Sciences" software--SPSS 12.0 (Chicago, IL). It was found that electromyographic alterations occur in the facial musculature that influences facial expressions of individuals. Results for the orbicularis oris muscle demonstrated that myoelectric activity among blind and control subjects was greater for the control group at muscular rest, blowing, and in labial projection. Electromyographic analysis of the orbicularis oculi among blind and control subjects in three clinical conditions studied demonstrated that activity was greater for the control group at muscular rest, blinking, and forced blinking. For the frontal muscles were demonstrated that electromyographic activity was greater for blind individuals. These data suggest the influence of congenital blindness on muscular development, including alterations in electromyographic activity of skin musculature in individuals with visual impairment.