Narrativas de mães de crianças cegas congênitas sobre itinerários terapêuticos, arranjos de cuidados e experiências maternas: uma pesquisa no Instituto Benjamin Constant / Narratives of mothers of congenitally blind children on therapeutic pathways, care arrangements and maternal experiences: a study at the Benjamin Constant Institute

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)

Psychoacoustic Measures and Speech Perception of Compressed Rate of Sentences in Noise in Individuals with Congenital and Acquired Blindness

Without visual information, blind speakers rely solely on the auditory signal to recover phonological information. We wanted to measure the psychoacoustic measures and perception of compressed speech in noise in individuals with congenital and acquired blindness and correlate the temporal resolution and frequency resolution ability with individuals with normal sight.METHODSThe clinical group (age range-12-20 years) contains two subgroups- congenital blindness and acquired blindness, with normal hearing each containing 15 participants. 15 participants with normal vision were selected as controls. To measure the temporal processing ability each participant was asked to perform Gap detection test. Similarly, difference limen frequency was estimated from pitch discrimination of pure tones. The task for speech perception of compressed sentences was done at different rate of compression at different SNRs.RESULTSResults indicated that there was significant difference in gap detection threshold between congenital blinds and normal sighted participants as well as between acquired blinds and normal sighted participants. There was significant difference in frequency discrimination scores between blind listeners and normal sighted participants. The sentence perception score was better in those participants who have congenital blindness than acquired blindness followed by normal sighted participants in each experimental condition.CONCLUSIONSFrom the investigation, it can be concluded that the psychoacoustic measures are better in individuals with blindness than individuals with normal sight. speech perception deteriorates with an increase in noise in both normal sighted individuals and individuals with blindness. Effect of noise is more for individuals with normal sight than blind listeners.

Amaurosis congénita de Leber: Reporte de caso / Leber's congenital amaurosis: Case report

La amaurosis congénita de Leber es un desorden clínico, genético y heterogéneo caracterizado por una severa pérdida de la visión al nacimiento. Se presenta en un 10 a 18% de los casos de ceguera congénita. Algunos pacientes muestran solamente ceguera de origen retinal mostrando evidencia de un involucro multisistémico. En la presentación de este caso se hace la revisión bibliográfica del tema, la presentación de un caso clínico y se describe la importancia del manejo estomatológico de estos pacientes, ya que es importante el conocimiento y el entendimiento de la patología y de las consecuencias de su tratamiento.

Leber's congenital amaurosis is an heterogeneous and genetic clinical disorder characterized by severe loss of vision at birth. It accounts for 10 to 18% of congenital blindness cases. Some patients exhibit solely retinal blindness and show evidence of multi-systemic involvement. The presentation of this case includes bibliographic review of the subject, presentation of a clinical case and description of the importance of stomatologic handling of these patients. Knowledge and understanding of the disease as well as treatment sequels are paramount.

Presentación de un paciente con enfermedad de Norrie / Presentation of a Patient with Norrie Disease

La enfermedad de Norrie es un raro trastorno genético ligado al cromosoma X que afecta principalmente a los ojos y casi siempre conduce a la ceguera. Además de los síntomas oculares congénitos, algunos pacientes sufren una pérdida progresiva de la audición sobre todo a partir de su segunda década de vida, mientras que otros afectados pueden tener problemas mentales. Los pacientes con la enfermedad de Norrie pueden desarrollar cataratas y leucocoria, junto con otras afecciones de desarrollo en el ojo, como la contracción del globo ocular y el desgaste del iris. Se presentó un niño de cuatro años con ceguera congénita y antecedentes familiares de cuatro tíos y primos de sexo masculino, ciegos desde el nacimiento; su mamá preocupada solicitó asesoramiento genético ante un nuevo embarazo a la cual le brindó toda la información necesaria y se le realizó estudio molecular de sexo.

Norrie disease is a rare genetic disorder that is associated with chromosome X, affecting the eyes and often causes blindness. Besides congenital ocular symptoms, some patients suffer from progressive hearing loss, mainly from its second decade of life, while others may be affected by mental problems. The patients with this diagnosis may develop cataracts and leukocoria, together with other development eye disorders, such as shrinking of the eyeball and the iris wear. This paper presented a four- year- old boy with congenital blindness and family history of four uncles and male cousins, blind from birth, his mother worried requested genetic consultation, and she needed information to take into consideration for her next pregnancy. The informed everything about the disease and molecular study was performed.

Comparison of cerebellar volume between subjects with bilateral congenital blindness and healthy individuals / Comparación del volumen cerebelar entre individuos sanos y con ceguera bilateral congénita

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.

Racismo como verbalismo? Delineamentos para compreensão da aquisição do racismo entre cegos congênitos / Racism as verbalism? Designs for understanding the acquisition of racismo among congenitally blind

O artigo discute a questão da aquisição do racismo e do preconceito racial em crianças cegas congênitas. Está parcialmente fundamentado na perspectiva do antropólogo Lawrence A. Hirschfeld, estudioso da dimensão cultural da vida mental, pela ênfase que confere à linguagem na formação de conceitos raciais, em detrimento de indicadores visuais. O cerne do artigo reside em considerar algumas possibilidades alternativas para a construção de conceitos raciais e para a vivência do fenômeno do racismo que ora apontam para um padrão próprio aos cegos, ora apontam para um padrão semelhante ao dos videntes ou, ainda, para o mero artificialismo na vivência do racismo. Para esta alternativa, torna pertinente a introdução de uma discussão sobre relações de poder entre cegos e videntes numa sociedade visual, onde se observa que as condições sociais influenciam significativamente. O verbalismo se constitui num processo que parece acentuar a condição de subordinação dos cegos.

This article discusses the issue of the acquisition of racism and racial prejudice in children with congenital blindness.This study was partially based on the perspective of the viewpoint of the anthropologist Lawrence A. Hirschfeld, who has researched cultural dimension of the mental life through emphasis on the role of language on the development of racial concepts, at the expense of visual indicators. The core of the study stands on considering alternative possibilities for shaping racial concepts and experiencing racism which, which at times suggest a pattern unique to the blind and, at others, one similar to the sighted, and yet occasionally evoke the mere artificiality of the experience of racism.Under this premise, the article finds it pertinent to introduce a discussion about power relations between the blind and the sighted in a visual society, whereby the social context associated with blindness significantly influences. Verbalism becomes thus a process which appears to accentuate the subordinate status of the blind.

Clinical Characteristics of Leber's Congenital Amaurosis in Korea

PURPOSE: To study the clinical characteristics and visual prognosis of Leber's congenital amaurosis in Korea. METHODS: Children who were diagnosed with Leber's congenital amaurosis at Seoul Natioanl University Children's Hospital between 1992 and 2004, were included in this study. The medical records pertaining to the clinical characteristics and visual outcomes of the patients were retrospectively reviewed. RESULTS: The mean age of the patients at presentation and during the subsequent follow-up period was 15.5 and 62.7 months, respectively. The principal symptoms included lack of fixation (69.0%) and nystagmus (23.8%). At first observation, nystagmus was found in 40 patients, and the appearance of the fundi were variable, including 'normal' (23.8%), pigmentary degeneration (54.8%), vascular attenuation (35.7%) and macular coloboma (19.0%). At the age of three to five years, 44.4% of patients had hyperopia greater than +5D. At the time of last follow-up, the visual acuities of the patients who were examined after the age of four were 'hand motion' in 68.7%, > or =20/400 in 9.4%. No patient had visual acuity better than 20/200. Eight (25%) patients could read with glasses or low-vision aids. CONCLUSIONS: The visual prognosis of patients with Leber's congenital amaurosis was poor in most cases, but a majority of our patients displayed a stable clinical course. Progression was rare, and one fourth of the patients were able to read with appropriate aides. In conclusion, regular follow-up care to assess visual function is necessary for optimal outcomes.

Clinical Characteristics of Leber's Congenital Amaurosis in Korea

PURPOSE: To study the clinical characteristics and visual prognosis of Leber's congenital amaurosis in Korea. METHODS: Children who were diagnosed with Leber's congenital amaurosis at Seoul Natioanl University Children's Hospital between 1992 and 2004, were included in this study. The medical records pertaining to the clinical characteristics and visual outcomes of the patients were retrospectively reviewed. RESULTS: The mean age of the patients at presentation and during the subsequent follow-up period was 15.5 and 62.7 months, respectively. The principal symptoms included lack of fixation (69.0%) and nystagmus (23.8%). At first observation, nystagmus was found in 40 patients, and the appearance of the fundi were variable, including 'normal' (23.8%), pigmentary degeneration (54.8%), vascular attenuation (35.7%) and macular coloboma (19.0%). At the age of three to five years, 44.4% of patients had hyperopia greater than +5D. At the time of last follow-up, the visual acuities of the patients who were examined after the age of four were 'hand motion' in 68.7%, > or =20/400 in 9.4%. No patient had visual acuity better than 20/200. Eight (25%) patients could read with glasses or low-vision aids. CONCLUSIONS: The visual prognosis of patients with Leber's congenital amaurosis was poor in most cases, but a majority of our patients displayed a stable clinical course. Progression was rare, and one fourth of the patients were able to read with appropriate aides. In conclusion, regular follow-up care to assess visual function is necessary for optimal outcomes.