189 resultados para AUTOSOMAL-RECESSIVE DEAFNESS


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The storytelling is central to the early literacy of children, part of the objectives for the entire kindergarten. The story circle or storytelling is important and helpful in cognitive and emotional development of children, including the ones with disabilities. Seeking communicational accessibility, the aim of this work is to make the book "O Penuginha" by Luiz Vitor Martinello available in LIBRAS (Brazilian Sign Language). To facilitate the achievement of this objective, it was considered appropriate to develop a descriptive study following the methodology of qualitative research, to search for literature on how learning takes place in the Portuguese language by deaf students. This study resulted in a DVD with video recordings, the translation of the book "O Penuginha" in LIBRAS and the narration of the book in Portuguese. Therefore, this research is relevant because the paradigm of the twenty first century is the inclusion of all people in different scenarios and the school is one of the first places where the removal of barriers is essential.

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This study aimed to evaluate the effects of a systematic teaching of relation between printed words and Brazilian Sign Language on the emergence of reading in one child with deafness, user of Brazilian Sign Language, diagnosed with deafness bi-lateral deep user of hearing, with 9 years and 4 months of age, enrolled in 4th year elementary school. Baseline evaluation selected nine words and their signs and figures to compose the teaching steps and tests that consisted of: (a) relationship between a sign and figure teaching, (b) the relationship between sign and printed word, (c) test of relationship between figure and the printed word and its symmetric (d) test signal in front of picture and the printed word. The participant learned the relationship between sign, figure and printed word and demonstrated reading. This procedure was effective for the participant to emit signals, verbally agreed with the community of Libras in front of textual stimuli, which is characterized as reading.

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The use of Brazilian Sign Language (BSL) in the education of deaf people is guaranteed by Brazilian laws, but its adoption in educational policies requires an adjustment in terms of stimulus and response modalities. This study aimed at characterizing reading and writing performances of four deaf students who are BSL users and are in early literacy phases. The assessment was performed through selection tasks – signaling and writing – using an evaluation and teaching procedure that is usually adopted with hearing children. The results replicated data that has been documented in hearing children: performance was satisfactory in copying and identity matching tasks among pictures and graphic stimulus; performance was lower in reading and dictation tasks. Data show that investment targets regarding reading and writing teaching conditions programming require adjustments that are more related to the communication modality than to the teaching procedures.

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This research analyses the development of children presented with profound deafness and benefited by the cochlear implant, discovery of great significance in hearing health. The work is based, theoretically, on Winnicott, and methodologically, in anamnesis data and playing on a set of ludic scenes, systematically organized. Ten pre-school children with implants, selected by hospital and homogenization eligibility criteria participate in this study encompassing interviews with parents and playful observation sessions with the children, besides Lynn´s Dolls Structured Game. In the children, the results show immaturity, regression to earlier stages of their development, dependency and behavioral disorders, in particular, those related to language, interrelationship and anxiety. In the parents, family disorientation, partly overcome. The children and family participating are assisted by a multidisciplinary health team, at the hospital where they are attended.

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Neurofibromatosis type 1 (NF1) is an autosomal dominant multisystem disorder affecting approximately 1 in 3500 individuals. Patients with the disorder can develop carcinoid tumors, medullary thyroid carcinoma, pheochromocytoma and tumor of the hypothalamus. The association of NF1 with Primary Hyperparathyroidism (HPP) is very rare. We report a 56-year-old woman with NF1 who was referred to our service because of nephrolithiasis. Physical examination revealed the characteristic signs of NF1, and her laboratory calcium profile was compatible with HPP. The patient was referred for parathyroidectomy, but during the surgical work-up she underwent spontaneous remission of her HPP. This case is significant not only for the rarity of this presentation in NF1 patients, but also because of the spontaneous remission of HPP.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)