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Introducción. El síndrome de Usher es una alteración genética caracterizada por la asociación de retinitis pigmentaria y sordera. Sin embargo, hay casos con familias en las cuales, a pesar de presentarse dicha asociación, no se puede diagnosticar un síndrome de Usher ni ninguno otro. Objetivo. Reevaluar fenotípicamente a 103 familias con diagnóstico previo de posible síndrome de Usher o retinitis pigmentaria asociada con sordera. Materiales y métodos. Se revisaron las historias clínicas de 103 familias con un posible diagnóstico clínico de síndrome de Usher o retinitis pigmentaria asociada con sordera. Se seleccionaron las familias cuyo diagnóstico clínico no correspondía a un síndrome de Usher típico. Los afectados fueron valorados oftalmológica y audiológicamente. Se analizaron variables demográficas y clínicas. Resultados. Se reevaluaron 14 familias cuyo diagnóstico clínico no correspondía al de síndrome de Usher. De las familias con diagnóstico inicial de síndrome de Usher típico, el 13,6 % recibieron uno posterior de "retinitis pigmentaria asociada con sordera" de "otro síntoma ocular asociado con hipoacusia',' o en forma aislada en una misma familia, de "retinitis pigmentaria" o "hipoacusia'.' Conclusiones. Es fundamental el estudio familiar en los casos en que la clínica no concuerda con el diagnóstico de síndrome de Usher típico. En los pacientes con retinitis pigmentaria asociada con sordera, el diagnóstico clínico acertado permite enfocar los análisis moleculares y, así, establecer un diagnóstico diferencial. Es necesario elaborar guías de nomenclatura en los casos con estos hallazgos atípicos para orientar a médicos e investigadores en cuanto a su correcto manejo.

Introduction: There are several syndromes that associate retinitis pigmentosa with deafness or hearing loss. The most frequent is Usher syndrome, a genetic disorder of autosomal recessive inheritance, which, in some cases, is accompanied by vestibular dysfunction. However, there are cases of families that despite having retinitis pigmentosa associated with deafness, cannot be classified as Usher or other syndromes due to additional findings. Objective: To reassess the phenotypes of 103 families previously diagnosed as possible Usher syndrome and/or retinitis pigmentosa associated with deafness. Materials and methods: We conducted a descriptive and retrospective study by reviewing the medical records of 103 families with a probable clinical diagnosis of Usher syndrome and/or retinitis pigmentosa associated with deafness. Families whose clinical diagnosis did not correspond to the typical Usher syndrome were selected and evaluated ophthalmologically and audiologically. Demographic and clinical variables were analyzed. Results: We selected and then reevaluated 14 families and 55 individuals as they did not correspond to a clinical diagnosis of Usher syndrome; 13.6% of the families initially considered to have typical Usher syndrome were later diagnosed with retinitis pigmentosa associated with deafness, another ocular symptom associated with hearing loss, retinitis pigmentosa, or isolated hearing loss in the same family. Conclusions: Family studies are essential in cases where the symptoms do not match the typical Usher' syndrome. In the cases of retinitis pigmentosa associated with deafness, a correct clinical diagnosis allows for focusing on the molecular analyses to establish a differential diagnosis. The need for nomenclature guidelines on these atypical findings is relevant to aid physicians and researchers in the best approach to these cases.

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Considering the importance of communication and independence for the deafblind community, this work presents findings of the use of technology to address the lack of information due to communication challenges among the deafblind community. Over time, many investigations have been carried out regarding this matter, but very few providing solution, which is why this study emerged, looking to making all the information broadcasted through television accessible for this community. The work team designed a technology (GoCC4All) to address the needs of the deafblind community. GoCC4All provides access to captions available on TV through braille displays and mobile devices. Our research process and results outline the path for creating, adapting, and adopting new technologies for people with disabilities who have the right to access the information just as their peers without disabilities. The information in this paper is based on two surveys, an initial beta testing (BT) and a final survey among a group of 14 users (UT) who tested the GoCC4All application. Our findings support the positive impact of the iterative creation of assistive technology based on users' experience and users' recommendations to better serve the needs of the deafblind community.

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Introducción: La sordoceguera es una discapacidad doble que implica problemas en el campo auditivo y visual, provoca problemas comunicativos y motrices únicos. Por lo que es necesario trazar estrategias docente-educativas especiales y personalizadas. Objetivo: Proponer actividades físicas adaptadas como parte de la terapia ocupacional para la corrección-compensación de las alteraciones motrices presentadas en niños sordociegos que estudian en el Instituto Especial Mariana de Jesús. Métodos: La muestra estuvo conformada por 20 niños, entre los 6-10 años de edad con problemas visuales y auditivos parciales provocados por diferentes padecimientos. La investigación se inició con el diagnóstico realizado a 11 especialistas, que estaban implicados directamente en el proceso docente-educativo. Se delimitaron las variables de investigación antes de la implementación de la estrategia. Se diseñaron 10 juegos adaptados a las individualidades y necesidades de la muestra estudiada, y aplicados durante el curso docente 2016-2017. Resultados: Con la aplicación de las 7 pruebas motrices antes y después de implementada la mejora, se obtuvieron progresos significativos en las habilidades motrices de los sujetos, aumentando el porcentaje de evaluados de bien, según se demostró estadísticamente al calcular las proporciones para muestras relacionadas. Conclusiones: Las actividades físicas adaptadas, dentro de estrategias lúdicas como terapia ocupacional, permiten mejorar el trabajo correctivo-compensativo y las capacidades motrices de niños sordociegos. Estas estrategias deben desarrollarse bajo los principios de una ética humanista e inclusiva y sobre la base de una atención personalizada(AU)

Visual field, and causes unique communicative and motor problems. So, it is necessary to draw special and customised educational-teaching strategies. Objective: To propose adapted physical activities as part of the occupational therapy for the correction-compensation of motor alterations presented in deafblind children studying in Mariana de Jesus Special Institute. Methods: The sample consisted of 20 children in the ages from 6 to10 years old with visual and auditory problems caused by different diseases. The investigation began with a diagnosis to 11 specialists whom were directly involved in the educational process. The research variables were defined prior to the implementation of the strategy. There were designed ten games adapted to the individualities and needs of the sample studied, and those were used during the school year 2016-2017. Results: With the implementation of the 7 motor tests before and after the implementation of the improvement, significant breakthroughs in the motor skills of the subjects were achieved, and with it an increase in the percentage of subjects evaluated as well, as demonstrated statistically when calculating the proportions for related samples. Conclusions: The adapted physical activities, within playful strategies as occupational therapy, improve the corrective-compensative work and the motor abilities of deafblind children. These strategies should be developed under the principles of a humanist and inclusive ethics and on the basis of a personalized attention(AU)

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A comunicação apresenta-se gravemente afetada em crianças e jovens com multideficiência e surdocegueira, constituindo-se como uma área de intervenção prioritária. Objetivo: Analisar e sistematizar a literatura no que diz respeito a intervenção com comunicação aumentativa / alternativa com crianças e jovens com multideficiência e surdocegueira, considerando o modo de implementação e avaliação da eficácia destas intervenções. Método: Revisão sistemática da literatura baseada no PRISMA Statement. A pesquisa foi realizada nas bases de dados SciELO, LILACS, PubMed e B-On, até à data de 31 de maio de 2018, utilizando os termos "multideficiência", "surdocegueira" e "comunicação aumentativa e alternativa", em português e em inglês, combinados entre si. Resultados: Um total de nove artigos foram selecionados após cuidadosa análise e atendendo a rigorosos critérios de inclusão e exclusão. Conclusão: Algumas discrepâncias foram identificadas quanto ao modo de implementação e avaliação da eficácia de comunicação aumentativa e alternativa, tendo-se concluído que é necessário desenvolver mais investigação que evidencie o impacto do uso desta ferramenta relativamente aos múltiplos contextos naturais, funcionalidade comunicativa mais complexa, instrução de parceiros de comunicação, frequência da intervenção e percepções de pais / profissionais.

Communication is seriously affected in children and young people with multiple disabilities and deafblindness, which makes it a priority area of intervention. Objective: Analyse and systematise the literature regarding the intervention with augmentative and alternative communication in children and young people with multiple disabilities and deafblindness, considering the mode of implementation and evaluation of the effectiveness of that intervention. Methods: Systematic review of the literature following the PRISMA Statement. The research was carried out in the databases SciELO, LILACS, PubMed and B-On, until May 31st, 2018, using the terms "multiple disabilities", "deafblindness" and "augmentative and alternative communication" in Portuguese and in English, combined between them. Results: A total of nine articles were selected after careful analysis and the application of strict inclusion and exclusion criteria. Conclusion: Some differences have been identified concerning the implementation and evaluation of augmentative and alternative communication effectiveness, revealing that further research is needed in order to demonstrate the impact of the use of this tool in the following aspects: multiple natural settings, complex communicative function, communicative partners, frequency of intervention and perceptions of parents / professionals.

Introduccion: La comunicación se ve gravemente afectada en niños y jóvenes con multideficiencia y sordoceguera, constituyéndose como una área de intervención prioritaria. Objetivo: Analizar y sistematizar la literatura en lo que se refiere a la intervención con comunicación aumentativa y alternativa con niños y jóvenes con multideficiencia y sordoceguera, en lo que se relaciona con el modo de implementación y evaluación de la eficacia en estas intervenciones. Metodos: Revisión sistemática de la literatura atendiendo a las conceptualizaciones establecidas por el PRISMA Statement. La búsqueda se realizó en las bases de datos SciELO, LILACS, PubMed y B-On, al 31 de mayo, 2018, com los términos "multidiscapacidad", "sordoceguera" y "comunicación aumentativa y alternativa" en portugués y en inglés, combinados entre sí. Resultados: Un total de nueve artículos fueron seleccionados después de un cuidadoso análisis y atendiendo a rigurosos criterios de inclusión y exclusión. Conclusión: Algunas discrepancias se identificaron en lo que se refiere al modo de aplicación y evaluación de la eficacia de la comunicación aumentativa y alternativa y se concluyó que es necesario desarrollar más investigación que evidencie el impacto del uso de esta herramienta en lo que respecta a los múltiples contextos naturales, funcionalidad comunicativa compleja, de socios de comunicación, frecuencia de la intervención y percepciones de padres / profesionales.

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O presente artigo é composto de parte de minha pesquisa de doutorado, cujo propósito foi buscar interfaces entre os campos da Surdocegueira e da Arte. O trabalho foi desenvolvido com pessoas surdocegas, seus familiares e profissionais do Programa de Atendimento e Apoio ao Surdocego (PAAS), do Instituto Benjamin Constant, situado no Rio de Janeiro. Através do método da cartografia, a pesquisa acompanhou processos de trabalho no PAAS agenciando-se aos interesses do território estudado e dos sujeitos participantes, dentre os quais destacamos neste artigo aexperiência vivida com uma pessoa surdocega. Para lidar com as especificidades da surdocegueira busquei suporte em estudos filosóficos e sociológicos. Na filosofia, de grande ajuda foram as reflexões sobre a fenomenologia da percepção de Maurice Merleau-Ponty. Na sociologia, tornaramse muito operativos os conceitos de Pensamento Abissal e Ecologia de saberes trazidos por Boaventura de Souza Santos. Para uma reflexão filosófica sobre a arte, busquei em Rancière e sua política estética instrumentos para legitimar as experiências observadas. No campo da deficiência e da Surdocegueira, foram fundamentais os diálogos com os saberes de perspectivas biopsicossociais a respeito da surdocegueira. Os resultados apontam a relevância da arte para a expressão do ser, para a comunicação, para a ampliação da percepção e para o entendimento de mundo de pessoas surdocegas. Do mesmo modo, revelam o potencial do campo da surdocegueira para o campo das artes, suscitando ampliações e enriquecimentos nos modos de perceber, conceber, fazer e fruir arte....(AU)

This article is composed of part of my PhD research, whose purpose was to search for interfaces between the Deafblind and Art fields. The work was developed with deafblind people, their relatives and professionals of the Program of Attention and Support to the Deafblind, from the Benjamin Constant Institute, located in Rio de Janeiro. Through the method of cartography, the research followed work processes in the Program of Attention and Support to the Deafblind taking care of the interests of the territory studied and the subjects involved, among which we highlight in this article the experience lived with a deafblind person. In order to deal with the specifics of deafblindness I sought support in philosophical and sociological studies. In the philosophy, of great help were the reflections on the phenomenology of the perception of Maurice Merleau-Ponty. In sociology, the concepts of Abyssal Thought and Ecology of knowledge brought by Boaventura de Souza Santos became very operative. For a philosophical reflection on art, I sought in Rancière and his aesthetic policy instruments to legitimize the observed experiences. In the field of disability and the Deafblindness, the dialogues with the knowledge of biopsychosocial perspectives on deafblindness were fundamental. The results point to the relevance of art to the expression of being, to communication, to the expansion of perception and to the world understanding of deafblind people. Likewise, they reveal the potential of the field of deafblindness to the field of the arts, raising extensions and enrichments in the ways of perceiving, conceiving, making and enjoying art....(AU)

El presente artículo se compone de parte de mi investigación de doctorado, cuyo propósito fue buscar interfaces entre los campos de la Sordoceguera y del Arte. El trabajo fue desarrollado con personas sordociegas, sus familiares y profesionales del Programa de Atención y Apoyo al Sordociego (PAAS), del Instituto Benjamin Constant, situado en Río de Janeiro. A través del método de la cartografía, la investigación acompañó procesos de trabajo en el PAAS agenciándose a los intereses del territorio estudiado y de los sujetos participantes, entre los cuales destacamos en este artículo la experiencia vivida con una persona sordociega. Para tratar con las especificidades de la sordoceguera busqué soporte en estudios filosóficos y sociológicos. En la filosofía, de gran ayuda fueron las reflexiones sobre la fenomenología de la percepción de Maurice Merleau-Ponty. En la sociología, se tornaron muy operativos los conceptos de Pensamiento Abisal y Ecología de saberes traídos por Boaventura de Souza Santos. Para una reflexión filosófica sobre el arte, busqué en Rancière y su política estética instrumentos para legitimar las experiencias observadas. En elcampo de la discapacidad y de la Sordoceguera, fueron fundamentales los diálogos con los saberes de perspectivas biopsicosociales acerca de la sordoceguera. Los resultados apuntan a la relevancia del arte para la expresión del ser, para la comunicación, para la ampliación de la percepción y para el entendimiento de mundo de personas sordociegas. De la misma manera, revelan el potencial del campo de la sordoceguera para el campo de las artes, suscitando ampliaciones y enriquecimientos en los modos de percibir, concebir, hacer y disfrutar arte....(AU)

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RESUMO Crianças com deficiência múltipla sensorial podem não desenvolver a linguagem de forma efetiva, pois a combinação de deficiências tende a reduzir a participação em seu meio e prejudicar o desenvolvimento da linguagem. O objetivo desta pesquisa foi analisar os processos interacionais, ou seja, os comportamentos de atenção (atenção à pessoa, atenção ao objeto e atenção conjunta) e comunicativos, entre uma aluna com deficiência múltipla sensorial (4 anos e 6 meses de idade) e sua professora, especializada na área da surdocegueira e deficiência múltipla sensorial. Os dados foram coletados durante atividades em sala de aula, por meio de observação participante e de gravações audiovisuais da interação/díade, e analisados com auxilio do programa ATLAS.TI. Os resultados apontaram que a aluna apresentou atenção ao objeto, em atividades que envolveram música e ritmo. Como potencial forma de comunicação não verbal, observou-se olhar, movimentos corporais e vocalização. As formas de comunicação da professora foram verbal, toque, visual, auditiva (ritmo) e sinais de Língua Brasileira de Sinais. A aluna apresentou potenciais trocas de turnos apenas quando a ação foi iniciada pela professora. A qualidade das atividades, os materiais utilizados e a participação mostraram ter impacto sobre os níveis de atenção e comunicação. Mais pesquisas devem considerar esses resultados, como forma de definir quais as atividades que podem contribuir para apoiar o desenvolvimento e a qualidade de vida das crianças com deficiência múltipla sensorial. Assim, professor e fonoaudiólogo devem conhecer a forma como cada criança se comunica e manterem-se alertas para os comportamentos não verbais, a fim de estabelecerem uma comunicação efetiva.

ABSTRACT Children with multiple sensory disabilities may not develop the language effectively, given that the combination of disabilities tends to reduce their participation in the environment and harm language development. The objective of this research was to analyze the interaction processes, i.e., the attention (attention to the person, attention to the object and joint attention) and communicative behaviors between a student with multiple disabilities (age: 4 years and 6 months) and her teacher specialized in the field of sensory multiple disabilities. The data were collected during activities in the classroom, through participant observations and audiovisual recordings of teacher/child interactions and analyzed with the ATLAS.TI program. The results indicated that the student showed attention to the object in activities involving music and rhythm. As potential forms of nonverbal communication it was observed eye gaze body movement and vocalizations. The teacher forms of communication were verbal, touch, visual, auditory (rhythm) and Brazilian Sign Language. The student presented potential turn-taking only when the action was initiated by the teacher. The quality of the activities, the materials used and the participation showed to have impact on the levels of attention and communication. More researches should consider these results as a way to define which activities that can contribute to support the development and quality of life of children with sensory multiple disabilities. Thus, teacher and speech/language therapist should know the way each child communicates and to be alert to nonverbal behaviors as a way to establish effective communication.

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El síndrome de Usher es una enfermedad determinada genéticamente, con una gran heterogeneidad clínica y genética; está caracterizada por hipoacusia neurosensorial de moderada a severa, retinosis pigmentaria progresiva y puede acompañarse de alteración vestibular. Por la alta prevalencia de esta enfermedad en la provincia de Holguín, se considera necesario este estudio. Objetivo: Caracterizar clínicamente todos los enfermos con diagnóstico clínico de síndrome de Usher en la provincia Holguín, en el período de enero del 2009 a enero del 2016. Metodología: Se realizó un estudio descriptivo, retrospectivo, tipo serie de casos, a los 53 pacientes con diagnóstico clínico de síndrome de Usher en la provincia Holguín. La muestra estuvo formada por los 53 enfermos residentes en la provincia. Se revisaron los registros del Centro Provincial de Retinosis Pigmentaria y las historias clínicas de estos pacientes; se recogieron los datos de interés en un instrumento que se confeccionó para ello. Las variables estudiadas fueron el sexo, la edad, edad del diagnóstico de la hipoacusia y severidad, edad del diagnóstico de la retinosis pigmentaria y los resultados de las pruebas audiológicas, lo que permitió conocer la función vestibular. Resultados: Se caracterizó clínicamente el 100 porciento de los enfermos estudiados. Predominó el sexo masculino (60,37 porciento). El 80 porciento presentó la retinosis pigmentaria en la primera infancia y la hipoacusia congénita profunda en 67,92 porciento. Las pruebas vestibulares demostraron que el 71,70 porciento presenta síndrome de Usher tipo II y el 28,30 porciento tiene el tipo I. Conclusiones: Predominó el sexo masculino, la hipoacusia precedió a la alteración visual. Se logró caracterizar clínicamente a estos afectados. Prevaleció el síndrome de Usher tipo II(AU)

Usher syndrome is a genetically determined disease with great clinical and genetic heterogeneity. This disease is characterized by sensorineural hearing loss of moderate to severe, progressive pigmentosa retinitis and may be accompanied by vestibular alteration. At the high prevalence of this disease in the province of Holguin, this study is considered necessary. Objective: To characterize all patients clinically with clinical diagnosis of Usher syndrome in Holguin province, in the period from January 2009 to January 2016. Methodology: A series types of retrospective cases, descriptive study with 53 patients with clinical diagnosis of Usher syndrome in Holguin province was conducted. The sample consisted of 53 patients residing in the province. Provincial records Pigmentosa Retinitis Pigmentosa Center and the medical records of these patients were reviewed, the data of interest are collected in an instrument that was drawn up for these. The variables studied were sex, age, age at diagnosis of hearing loss and severity, age of diagnosis of pigmentosa retinitis and the results of the audiological tests, allowing knowing the vestibular function. Results: It was possible to clinically characterize 100 percent of the patients studied, predominantly male in a 60.37 percent. 80 percent had pigmentosa retinitis in early childhood and profound congenital hearing loss in 67.92 percent. Vestibular tests showed that 71. 70 percent have Usher syndrome type II and 28.30 percent have the type I. Conclusions: mainly males, hearing loss preceded visual impairment. It was possible to clinically characterize those affected. It prevailed Usher syndrome type II(AU)

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La superación de los logopedas no debe valorarse alejada del concepto de educación permanente, que es el enfoque que en el presente y desde hace varios años se aplica en Cuba, el que ha sido estudiado desde la época de Platón hasta la actualidad; de ahí la necesidad de superación constante de los logopedas, para desde su desempeño lograr los objetivos propuestos, permitiéndoles a todos los niños implantados después de la rehabilitación la incorporación social a partir de sus capacidades, y en los que, la colocación de este tipo de dispositivo garantice el mejoramiento de su calidad de vida.(AU)

The improvement of speech therapists cannot be seen away from the concept of permanent education, which is an approach that, presently and for some years, has been used in Cuba, which has also been studied since Platos times to present days. That is the reason for the need of a constant improvement of speech therapists, so that from their performance they can achieve their purposes, allowing all implanted children their social reinstatement after rehabilitation, taking into account their abilities, as well as the corresponding improvement of quality of life with the use of the implanted devise.(AU)

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La superación de los logopedas no debe valorarse alejada del concepto de educación permanente, que es el enfoque que en el presente y desde hace varios años se aplica en Cuba, el que ha sido estudiado desde la época de Platón hasta la actualidad; de ahí la necesidad de superación constante de los logopedas, para desde su desempeño lograr los objetivos propuestos, permitiéndoles a todos los niños implantados después de la rehabilitación la incorporación social a partir de sus capacidades, y en los que, la colocación de este tipo de dispositivo garantice el mejoramiento de su calidad de vida.

The improvement of speech therapists cannot be seen away from the concept of permanent education, which is an approach that, presently and for some years, has been used in Cuba, which has also been studied since Plato’s times to present days. That is the reason for the need of a constant improvement of speech therapists, so that from their performance they can achieve their purposes, allowing all implanted children their social reinstatement after rehabilitation, taking into account their abilities, as well as the corresponding improvement of quality of life with the use of the implanted devise.

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Determinar la presencia de las mutaciones 2299delG y C759F en 37 individuos colombianos no relacionados con asociación de RP e hipoacusia neurosensorial. Materiales y métodos: análisis de secuencia directa del exón 13 del gen USH2A en todos los individuos seleccionados para el estudio. Resultados: la mutación 2299delG fue observada únicamente en individuos con Síndrome de Usher tipo II, mientras que la mutación C759F, no fue observada en ninguno de los individuos del estudio...

To determine the presence of 2299delG and C759F mutations in 37 non-related subjects from Colombia suffering from RP and sensorineural deafness. Materials and methods: Exon 13 of USH2A gene was directly sequenced in all subjects selected for the study. Results: In this work, the 2299delG mutation was only observed in subjects suffering from Usher syndrome type II while the C759F mutation was not detected in any subject...

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INTRODUCTION: Cross-modal plasticity has been extensively studied in deaf adults with neuroimaging studies, yielding valuable results. A recent study in our laboratory with deaf-blind children found evidence of cross-modal plasticity, revealed in over-representation of median nerve somatosensory evoked potentials (SEP N20) in left hemisphere parietal, temporal and occipital regions. This finding led to asking whether SEP N20 changes are peculiar to deaf-blindness or are also present in sighted deaf children. OBJECTIVE: Assess cross-modal plasticity in deaf child cochlear implant candidates using neurophysiological techniques (visual evoked potentials and median nerve somatosensory evoked potentials). METHODS: Participants were 14 prelingually deaf children assessed in the Cuban Cochlear Implant Program. Flash visual-evoked potentials and SEP N20 were recorded at 19 scalp recording sites. Topographic maps were obtained and compared to those of control group children with normal hearing. Analysis took into account duration of hearing loss. RESULTS: Topographic maps of flash visual-evoked potentials did not show changes in deaf child cochlear implant candidates. However, SEP N20 from right median nerve stimulation did show changes from expansion of cortical activation into the left temporal region in deaf children aged ≥7 years, which was interpreted as neurophysiological evidence of cross-modal plasticity, not previously described for this technique and type of somatosensory stimulus. We interpret this finding as due in part to duration of deafness, particularly related to handedness, since expansion was selective for the left hemisphere in the children, who were all right-handed. CONCLUSIONS: Cortical over-representation of SEP N20 in the left temporal region is interpreted as evidence of cross-modal plasticity that occurs if the deaf child does not receive a cochlear implant early in life-before concluding the critical period of neural development-and relies on sign language for communication.

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Este trabalho tem a intenção de apresentar para a Fonoaudiologia a surdocegueira, sua conceituação, classificação, etiologia, as formas de comunicação, o papel do guia-intérprete, o processo da orientaçãoe mobilidade, a importância da participação da família, os processos de reabilitação e seu papel no desenvolvimento e na vida da pessoa com surdocegueira. Para o fonoaudiólogo, conhecer o impacto que as deficiências auditivas e visuais têm na linguagem e as formas de comunicação que poderão ser estabelecidas são aspectos de extrema valia para o delineamento de novas áreas de atuação e para o desenvolvimento de programas terapêuticos e educacionais...

This study aims to present the deafblindness, its conceptualization, classification, etiology, the communication ways, the role of guide-interpreter, the process of orientation and mobility, the importance of family involvement, the rehabilitation processes and its role in the development and in the life of people with deafblindness. For the speech therapeutic, to know the impact that visual and hearing impairments have in language and the forms of communication that may be established are aspects extremely importantto the design of new areas of actuation and to develop therapeutic and educational programs...

Este documento tiene como objetivo presentar la sordoceguera, su conceptualización, clasificación, etiología, formas de comunicación, el papel de guía-intérprete, el proceso de orientación y movilidad, la importancia de la participación de la familia, los procesos de rehabilitación y su desarrollo y la vida de las personas con sordoceguera. Para fonoaudiología, conocer el impacto que tienen deficiencias visuales y auditivas en el lenguaje y las formas de comunicación que se estlabezcan los aspectos son muy importantes para el diseño de nuevas áreas y para desarrollo de programas terapéuticosy educativos...

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Este trabalho tem a intenção de apresentar para a Fonoaudiologia a surdocegueira, sua conceituação, classificação, etiologia, as formas de comunicação, o papel do guia-intérprete, o processo da orientaçãoe mobilidade, a importância da participação da família, os processos de reabilitação e seu papel no desenvolvimento e na vida da pessoa com surdocegueira. Para o fonoaudiólogo, conhecer o impacto que as deficiências auditivas e visuais têm na linguagem e as formas de comunicação que poderão ser estabelecidas são aspectos de extrema valia para o delineamento de novas áreas de atuação e para o desenvolvimento de programas terapêuticos e educacionais.(AU)

This study aims to present the deafblindness, its conceptualization, classification, etiology, the communication ways, the role of guide-interpreter, the process of orientation and mobility, the importance of family involvement, the rehabilitation processes and its role in the development and in the life of people with deafblindness. For the speech therapeutic, to know the impact that visual and hearing impairments have in language and the forms of communication that may be established are aspects extremely importantto the design of new areas of actuation and to develop therapeutic and educational programs.(AU)

Este documento tiene como objetivo presentar la sordoceguera, su conceptualización, clasificación, etiología, formas de comunicación, el papel de guía-intérprete, el proceso de orientación y movilidad, la importancia de la participación de la familia, los procesos de rehabilitación y su desarrollo y la vida de las personas con sordoceguera. Para fonoaudiología, conocer el impacto que tienen deficiencias visuales y auditivas en el lenguaje y las formas de comunicación que se estlabezcan los aspectos son muy importantes para el diseño de nuevas áreas y para desarrollo de programas terapéuticosy educativos.(AU)

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INTRODUCTION: Studies of neuroplasticity have shown that the brain's neural networks change in the absence of sensory input such as hearing or vision. However, little is known about what happens when both sensory modalities are lost (deaf-blindness). Hence, this study of cortical reorganization in visually-impaired child cochlear implant (CI) candidates. OBJECTIVE: Assess cross-modal plasticity, specifically cortical reorganization for tactile representation in visually-impaired child CI candidates, through study of topography of somatosensory evoked potentials (SEP). METHODS: From April through September 2005, SEP from median and tibial nerve electrical stimulation were studied in 12 visually-impaired child CI candidates aged 3-15 years and 23 healthy controls. Following placement of 19 recording electrodes using the International 10-20 System , SEP were recorded and then processed. Topographic maps were obtained for SEP N20 (median nerve) and SEP P40 (tibial nerve), permitting assessment of cortical reorganization by comparing visually-impaired, deaf children's maps with those of healthy children by means of visual inspection and statistical comparison using a permutation test. RESULTS: SEP N20 topography was significantly more extensive in visually-impaired child CI candidates than in healthy children. An asymmetrical pattern occurred from the expansion of hand tactile activation into the temporal and occipital regions in the left hemisphere on right median nerve stimulation. This did not occur for SEP P40 on tibial nerve stimulation (right and left). Magnitude of expanded SEP N20 response was related to severity of visual impairment and longer duration of dual sensory loss. CONCLUSIONS: Changes in SEP N20 topography are evidence of cross-modal plasticity in visually-impaired child CI candidates, appearing to result from a complex interaction between severity of visual impairment and duration of multisensory deprivation.

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El síndrome Usher es una enfermedad genética, que se caracteriza por hipoacusia neurosensorial progresiva bilateral congénita, pérdida de visión debida a la retinosis pigmentaria y en ocasiones presenta también trastornos vestibulares. Objetivo: describir los principales aspectos médicos, genéticos y psicosociales presentes en los pacientes con síndrome Usher. Método: se realizó un estudio descriptivo transversal en 14 pacientes con diagnóstico de síndrome Usher atendidos en el Centro de Retinosis Pigmentaria de Camagüey, desde 1991 hasta 2008. Resultados: los 14 pacientes provenían de familias diferentes y seis de ellos tenían antecedentes patológicos familiares. Se encontró consanguinidad entre los padres de las personas afectadas en el 35,72 % de las familias, el principal grado de parentesco fue el de primos hermanos. El síndrome Usher tipo II fue la forma más frecuente. La mayoría de los pacientes eran procedentes de zonas urbanas; los que portaban el síndrome levemente aspiraban a alcanzar un mayor nivel de escolaridad, así como aquellos procedentes de las áreas urbanas. Tenían ocupación laboral nueve; algunos con trabajos riesgosos. De los nueve, cuatro no trabajaban y sólo dos eran del sexo femenino. Conclusiones: las manifestaciones clínicas del síndrome Usher provocan una doble limitación (visual y auditiva), que son responsables de los trastornos psicológicos y sociales que se asocian al mismo. Las personas afectadas necesitan de una atención especial que contribuya a mejorar la calidad de sus vidas (AU)

Usher´s syndrome is a genetic disease that is characterized by congenital bilateral progressive neurosensory hypoacusis, loss of vision due to retinitis pigmentosa and occasionally also presents vestibular disorders. Objective: to describe the main medical, genetic, and psychosocial aspects present in patients with Usher´s syndrome. Method: a cross-sectional descriptive study was conducted in 14 patients with Usher´s syndrome diagnosis treated at the pigmentary retinosis Center in Camagüey, from 1991 to 2008. Results: fourteen patients came from different families and six of them had family pathological history. Found consanguinity among parents of persons affected by 35,72 % of families, cousins was the main degree of kinship. Usher´s syndrome type II was the most common form. The majority of patients were from urban areas; which carried the syndrome slightly aspired to achieve a higher level of schooling, as well as those from urban areas. Nine of them had jobs, some risky works. Four out of nine, did not work and only two were female. Conclusions: clinical manifestations of Usher´s syndrome cause a double constraint (visual and auditory), which are responsible for the psychological and social disorders that are associated to it. Affected persons need a special care to help improve the quality of their lives (AU)

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El síndrome Usher es una enfermedad genética, que se caracteriza por hipoacusia neurosensorial progresiva bilateral congénita, pérdida de visión debida a la retinosis pigmentaria y en ocasiones presenta también trastornos vestibulares. Objetivo: describir los principales aspectos médicos, genéticos y psicosociales presentes en los pacientes con síndrome Usher. Método: se realizó un estudio descriptivo transversal en 14 pacientes con diagnóstico de síndrome Usher atendidos en el Centro de Retinosis Pigmentaria de Camagüey, desde 1991 hasta 2008. Resultados: los 14 pacientes provenían de familias diferentes y seis de ellos tenían antecedentes patológicos familiares. Se encontró consanguinidad entre los padres de las personas afectadas en el 35,72 % de las familias, el principal grado de parentesco fue el de primos hermanos. El síndrome Usher tipo II fue la forma más frecuente. La mayoría de los pacientes eran procedentes de zonas urbanas; los que portaban el síndrome levemente aspiraban a alcanzar un mayor nivel de escolaridad, así como aquellos procedentes de las áreas urbanas. Tenían ocupación laboral nueve; algunos con trabajos riesgosos. De los nueve, cuatro no trabajaban y sólo dos eran del sexo femenino. Conclusiones: las manifestaciones clínicas del síndrome Usher provocan una doble limitación (visual y auditiva), que son responsables de los trastornos psicológicos y sociales que se asocian al mismo. Las personas afectadas necesitan de una atención especial que contribuya a mejorar la calidad de sus vidas.

Usher´s syndrome is a genetic disease that is characterized by congenital bilateral progressive neurosensory hypoacusis, loss of vision due to retinitis pigmentosa and occasionally also presents vestibular disorders. Objective: to describe the main medical, genetic, and psychosocial aspects present in patients with Usher´s syndrome. Method: a cross-sectional descriptive study was conducted in 14 patients with Usher´s syndrome diagnosis treated at the pigmentary retinosis Center in Camagüey, from 1991 to 2008. Results: fourteen patients came from different families and six of them had family pathological history. Found consanguinity among parents of persons affected by 35,72 % of families, cousins was the main degree of kinship. Usher´s syndrome type II was the most common form. The majority of patients were from urban areas; which carried the syndrome slightly aspired to achieve a higher level of schooling, as well as those from urban areas. Nine of them had jobs, some risky works. Four out of nine, did not work and only two were female. Conclusions: clinical manifestations of Usher´s syndrome cause a double constraint (visual and auditory), which are responsible for the psychological and social disorders that are associated to it. Affected persons need a special care to help improve the quality of their lives.

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Introdução: nas últimas décadas, novas tecnologias de assistência,muitas baseadas em eletrônica e computação, têm sido adaptadas para formas mais efetivas de promover a substituição sensorial para indivíduos portadores de deficiência auditiva e visual. Métodos: as pesquisas em neurociência cognitivativeram um salto qualitativo e quantitativo considerável,permitindo avanços surpreendentes no conhecimento das interações entre as ações cognitivas e sensório-motoras. Isto é especialmente verdadeiro para as melhorias proporcionadas aos indivíduos surdo-cegos que se utilizando de aparatos tecnológicos tem conseguido diminuir a exclusão social a que muitas vezes são submetidos por conta de suas deficiências. Resultados: o presente artigo faz uma revisão das principais tecnologias disponíveis para a acessibilidade e a inclusão socialdestes indivíduos, buscando desta forma reunir subsídios para futuras pesquisas e desenvolvimentos tecnológicos na área de comunicação alternativa. Conclusão: a inclusão socialde qualquer indivíduo esbarra muitas vezes em aspectos educacionais e, diante do quadro de exclusão a que é submetido o portador desta deficiência, a solução parte da melhoriadas condições de acesso às formas de comunicação e incremento nos processos cognitivos, diminuindo a barreira existente entre o mundo “real” e o universo destes deficientes.

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Se realizó una investigación de niños sordociegos desde el punto de vista audiológico pesquisados y diagnosticados en un estudio prospectivo en la provincia Granma incluidos en el programa social para la atención a niños sordociegos desde noviembre del 2003 a marzo del 2004 en el rango de edades de 0-14 años, con el objetivo de valorar la afectación audiológica y determinar variables relacionadas con edad, sexo, causas más frecuentes, entidades asociadas, necesidades de rehabilitación y sociales. A dichos pacientes se les confeccionó una historia audiológica que incluyó historia de la enfermedad, antecedentes patológicos personales y familiares, examen de otorrinolaringología, audiometría, potenciales evocados auditivos de tallo cerebral y de estado estable en múltiples frecuencias moduladas en amplitud así como impedanciometría, conjuntamente con la evaluación psicopedagógica y social. El sexo predominante fue el masculino con 11 niños (91.7 por ciento) y el grupo de 11 a 14 años con 8 niños (66.8 por ciento). Dentro de las causas congénitas, las de origen genético, la hipoxia al nacer, la ototoxicidad y el parto pretérmino fueron las más significativas, mientras que el retraso mental, el retardo del desarrollo psicomotor, la epilepsia y la parálisis cerebral infantil constituyeron las principales afecciones asociadas. La rehabilitación protésica biaural, los ejercicios fisioterapéuticos y enseñanza especial fueron indicados en la casi totalidad de los pacientes. Las dificultades constructivas, las necesidades de lencería, artículos de aseo y prestación de ayuda económica constituyeron las prioridades de la asistencia social. Se concluyó que es imprescindible la valoración integral de los pacientes sordociegos con el fin de incorporarlos a nuestra sociedad(AU)

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Esta revisão de literatura sobre intervenção precoce na surdocegueira tem por objetivo conhecer as condutas existentes, ressaltando a importância da estimulação precoce. A estimulação precoce e o estabelecimento da educação e de serviços de suporte para crianças durante os três primeiros anos de idade. A criança surdocega necessita de intervenção imediata a partir do momento do diagnóstico para que tenha mais chances de se desenvolver social, mental e biologicamente. A atenção ao diagnóstico é de suma importância, para não se correr o risco de intervenções inadequadas. A literatura mostra as conseqüências da perda visual, auditiva ou de ambos os canais sensoriais e, com a intervenção precoce, pode-se minimizar as dificuldades encontradas nessa situação. O fato de existir um grande número de combinações entre grau e perda da visão e da audição dificulta a definição da surdocegueira bem como o planejamento de um programa adequado de estimulação. Neste sentido, o papel dos pais, dos cuidadores e dos terapeutas se somam, visando atingir o desenvolvimento potencial máximo da criança.(AU)

This review on deaf-blindness diagnosis and early intervention has the objective to know the existing procedures in these conducts which outline the importance of early stimulation. From the moment of the diagnosis the deaf-blind needs immediate intervention to increase his/her chances for a social, mental and biological development. Therefore, a careful diagnosis is utterly important in order to decrease the risk of an inadequate intervention. Early intervention is the establishment of education and supporting services for children during the first three years of life. The literature presents the consequences of visual, hearing or both sensorial channels loss, and how early intervention can diminish the difficulties in these situations. The fact that there is a great number of different combinations in visual and hearing levels and loss makes difficult the definition of deaf-blindness as well as the planning of the adequate stimulation program. This way the role of the parents, caretakers as well as therapists will inevitably be complementary aiming at the children's best potential development.(AU)

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Esta revisão de literatura sobre intervenção precoce na surdocegueira tem por objetivo conhecer as condutas existentes, ressaltando a importância da estimulação precoce. A estimulação precoce e o estabelecimento da educação e de serviços de suporte para crianças durante os três primeiros anos de idade. A criança surdocega necessita de intervenção imediata a partir do momento do diagnóstico para que tenha mais chances de se desenvolver social, mental e biologicamente. A atenção ao diagnóstico é de suma importância, para não se correr o risco de intervenções inadequadas. A literatura mostra as conseqüências da perda visual, auditiva ou de ambos os canais sensoriais e, com a intervenção precoce, pode-se minimizar as dificuldades encontradas nessa situação. O fato de existir um grande número de combinações entre grau e perda da visão e da audição dificulta a definição da surdocegueira bem como o planejamento de um programa adequado de estimulação. Neste sentido, o papel dos pais, dos cuidadores e dos terapeutas se somam, visando atingir o desenvolvimento potencial máximo da criança.

This review on deaf-blindness diagnosis and early intervention has the objective to know the existing procedures in these conducts which outline the importance of early stimulation. From the moment of the diagnosis the deaf-blind needs immediate intervention to increase his/her chances for a social, mental and biological development. Therefore, a careful diagnosis is utterly important in order to decrease the risk of an inadequate intervention. Early intervention is the establishment of education and supporting services for children during the first three years of life. The literature presents the consequences of visual, hearing or both sensorial channels loss, and how early intervention can diminish the difficulties in these situations. The fact that there is a great number of different combinations in visual and hearing levels and loss makes difficult the definition of deaf-blindness as well as the planning of the adequate stimulation program. This way the role of the parents, caretakers as well as therapists will inevitably be complementary aiming at the children's best potential development.

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