Caracterización fenotípica de la retinitis pigmentaria asociada a sordera / Phenotypic characterization of retinitis pigmentosa associated with deafness

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.

Implantes cocleares: prioridad para niños con pérdida sensorial dual en Cuba / Cochlear implants: priority for children with dual sensory loss in Cuba

RESUMEN Fundamento: desde el año 2005 se crea el Programa Cubano de Implantes Cocleares para niños sordos y sordociegos, con prioridad para niños con pérdida sensorial dual. Objetivo: describir el comportamiento de la pérdida sensorial dual en niños del Programa Cubano de Implantes Cocleares. Métodos: se realizó un estudio observacional, descriptivo, retrospectivo de niños con pérdida sensorial dual que recibieron implante coclear entre febrero de 2005 y marzo de 2013 en Cuba. De las historias clínicas y la base de datos del programa fue obtenida la información que permitió elaborar el informe. Con antelación, se ilustran los primeros resultados sobre neuroplasticidad obtenidos con potencial evocado somatosensorial de nervio mediano realizado con parte del protocolo de estudio de investigación preimplante coclear en el Programa Cubano de Implantes Cocleares. Resultados: con el programa se han beneficiado 27 niños con pérdida sensorial dual con implantes cocleares, con cobertura a todas las provincias del país. Seis niños presentaron una enfermedad asociada, predominaron los factores pre/peri-natales y el síndrome de Usher como principales agentes causales de la sordoceguera. La pérdida auditiva fue prelocutiva en 24 niños, confirmada y caracterizada mediante electroaudiometría. Los estudios de imágenes de oídos no mostraron malformaciones. La implantación fue unilateral, sobre todo el oído derecho, sin complicaciones quirúrgicas en ninguno de los niños. Mientras que el estudio de neuroplasticidad evidencia reorganización cortical somestésica en niños con pérdida sensorial dual. Conclusiones: el Programa Cubano de Implantes Cocleares ha logrado un trabajo sostenido en la evaluación e implantación de niños con pérdida sensorial dual, distinguiéndose la investigación sobre neuroplasticidad, la cual ha dado evidencias de representación cortical somestésico preimplante coclear en estos niños. Ello será útil para evaluar la reorganización cortical post-implante coclear y correlacionarlo con el aprovechamiento del uso del implante coclear.

ABSTRACT Background : since 2005 the Cuban Cochlear Implant Program for deaf and deaf-blind children has been created, with priority for children with dual sensory loss. Objective: is to describe the work of the Cuban Cochlear Implant Program with children with dual sensory loss. Methods : a descriptive, retrospective study of children with dual sensory loss who received a cochlear implant between February 2005 and March 2013 in Cuba. The information to conform this descriptive report was obtained from the clinical histories and the database of the program; it also illustrates the first results on neuroplasticity obtained with the somatosensory evoked potential of the median nerve carried out with part of the pre-cochlear implant research study protocol in the Cuban Cochlear Implant Program. Results : the program has benefited 27 children with dual sensory loss with cochlear implants, covering all provinces of the country. Six children presented an associated pathology, with pre/peri-natal factors and Usher Syndrome as the main causal agents of deaf-blindness. Hearing loss was pre-lingual in 24 children, confirmed and characterized by electro-audiometry. No malformations were found in the ear images. The implantation was unilateral, mostly the right ear, without surgical complications in all the children. While the neuroplasticity study shows somesthetic cortical reorganization in children with dual sensory loss. Conclusions : the Cuban Cochlear Implant Program has achieved sustained work in the evaluation and implantation of children with dual sensory loss, a distinctive aspect being the research on neuroplasticity, which has provided evidence of somesthetic cortical representation pre-cochlear implantation in these children. This will be useful to assess cortical reorganization post- cochlear implant and correlate it with the use of the cochlear implant.

La corrección-compensación en niños sordociegos con alteraciones motrices a través de actividades físicas adaptadas / Correction-compensation in the deafblind children with motor alterations through adapted physical activities

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)

Caracterización clínica del síndrome de Usher. Provincia Holguín / Usher syndrome clinical characterization. Holguin province

Fundamento: 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 % de los enfermos estudiados. Predominó el sexo masculino (60,37 %). El 80 % presentó la retinosis pigmentaria en la primera infancia y la hipoacusia congénita profunda en 67,92 %. Las pruebas vestibulares demostraron que el 71,70 % presenta síndrome de Usher tipo II y el 28,30 % 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.

Background: 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 % of the patients studied, predominantly male in a 60.37 %. 80 % had pigmentosa retinitis in early childhood and profound congenital hearing loss in 67.92 %. Vestibular tests showed that 71. 70 % have Usher syndrome type II and 28.30 % 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.

Análisis Molecular de las Mutaciones 2299delG y C759F en Individuos Colombianos con Retinitis Pigmentosa e Hipoacusia Neurosensorial / Molecular analyses of 2299delG and C759F mutations in Colombian Retinitis Pigmentosa and Sensorineural hearing loss affected individuals

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...

Atendimento educacional especializado para alunos com surdocegueira: um estudo de caso no espaço da escola regular / Specialized educational support for deafblind students: a case study in a regular school

This article examines and discusses the different forms of Specialized Educational Support offered to students with deafblindness, in Basic Education, in regular schools of the city of Salvador, Bahia, pointing out significant aspects, highlighted the barriers and opportunities to meet the special needs of these students . This work is part of a doctorate research in education and has a qualitative approach, the case study, taking as sample, four deafblind students, three of them are in elementary school, and one in a high school. The instrument for colect the information was an interview with the professionals and the data were organized using three categories: the dynamics of the Specialized Educational Support, the action of the professional development in the Specialized Educational Support and the connection between the Specialized Educational Support and the special needs of students with deafblindness. The results indicated: the absence of a planned action, leading an improvisations and fragmentation of the Specialized Educational Support; isolation of professionals. This situation originates in pedagogical actions disjointed between the regular classroom teachers and specialists; ignore the special educational needs of students with deafblindness with consequent invisibility of these students in school.

Comunicação em adultos surdocegos com síndrome de Usher: estudo observacional retrospectivo / Communication in deafblind adults with Usher syndrome: retrospective observational study

OBJETIVO: Conhecer as características e desafios enfrentados por surdocegos para comunicar-se e locomover-se; avaliar as repercussões da surdocegueira na vida dos sujeitos, especialmente em relação à comunicação e locomoção. MÉTODOS: Relato de série de casos realizado a partir de entrevistas semiestruturadas com questões relativas à funcionalidade da comunicação, com indivíduos com diagnóstico clínico de síndrome de Usher que frequentaram um ambulatório especializado em um serviço universitário, durante o ano de 2007. A amostra foi composta por 11 sujeitos surdocegos portadores da síndrome de Usher, com idades entre 20 e 57 anos (média de 43 anos e DP=12,27), dos quais 7 (63,6%) eram do gênero feminino. As respostas foram analisadas qualiquantitativamente pela técnica do Discurso do Sujeito Coletivo (DSC). RESULTADOS: Todos os entrevistados referiram que os sintomas visuais e auditivos tiveram início na infância. Dos 11 entrevistados, 6 sentiram que a doença afetou negativamente suas atividades cotidianas, 6 sentiram dificuldade no trabalho, 2 no lazer. Quatro relataram que houve mudança no relacionamento familiar e 5 relataram que não houve mudança na interação com a família e com os amigos. Na análise do discurso, quase 30% dos entrevistados relataram utilizar-se de formas alternativas de comunicação; 40% afirmaram deslocar-se sozinho se o trajeto for previamente conhecido. CONCLUSÃO: Os indivíduos com síndrome de Usher enfrentam situações desafiadoras nas atividades cotidianas, nos relacionamentos pessoais, no trabalho e no lazer. Formas alternativas de comunicação são muito utilizadas quando a comunicação oral não é possível. A maioria dos entrevistados referiu independência de locomoção, ou procurava alcançá-la.

PURPOSE: To characterize the communication and the main mechanisms that facilitate interpersonal relationships of deafblind, especially in relation to communication and locomotion and the impact of these aspects on deafblindness. METHODS: Report of a series of cases conducted from semi-structured interviews with questions relating to the functionality of communication, with Usher syndrome patients attended in a specialized clinic in a university service, in the year 2007. The sample consisted of 11 deafblind subjects, with Usher syndrome, aged between 20 and 57 years (mean age 43 years and SD=12.27), of which 7 (63.6%) were female. The responses were analyzed by qualitative-quantitative technique of the Discurso do Sujeito Coletivo (DSC). RESULTS: All participants reported that visual and auditory symptoms began in childhood. Of the 11 interviewed, 6 reported that the disease has negatively affected their daily activities, 6 experienced difficulty at work, and 2 at leisure. Four reported that there was a change in family relationships, and 5 reported no change in the interaction with family and friends. In discourse analysis, almost 30% of respondents reported to use alternative forms of communication, 40% said move alone if the way is known before. Only 1 of 11 participants said they did not ask for help when needed. CONCLUSION: Individuals diagnosed with Usher syndrome face challenging situations in daily activities, personal relationships, at work and at play. Alternative forms of communication are often used when verbal communication is not possible. The majority of respondents have independence of locomotion, or seeking ways to achieve it.

A novel mutation in the translocase of inner mitochondrial membrane 8 homolog A gene in a family with Mohr-Tranebjaerg syndrome / 中华神经科杂志

Objective To report the clinical and genetic features in a family with Mohr-Tranebjaerg syndrome (MTS).Methods After collecting clinical data of the family,visual and auditory evoked potentials,pure tone audiometry,transient evoked otoacoustic emissions and distortion product otoacoustic emissions were carried out in proband (Ⅲ5).The translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) gene was sequenced in proband,Ⅰ2,Ⅱ 4 and Ⅱ 6.Results Ⅲ5,a 15-year-old boy presented with deafness,slurred speech,difficulty in finger extension and dystonia gradually since 2 years old.Ⅲ1,Ⅲ 2 and Ⅲ 3 presented with deafness at the age of 2.Ⅰ 2,Ⅱ 2,Ⅱ 4 and Ⅱ 6 showed mild decreased visual acuity at the age of 12.Visual evoked potentials revealed prolonged P100 latency in both eyes.Pure tone audiometry revealed severe sensorineural hearing loss.The auditory evoked potentials showed no wave in the bilateral ears.Otoacoustic emissions were not elicited bilaterally.A novel c.133-2delA mutation in TIMM8A gene was identified in Ⅲ 5,Ⅰ2,Ⅱ 4 and Ⅱ 6.Conclusions We confirm the MTS caused by a novel c.133-2delA mutation in TIMM8A gene.Except for the deafness,the development of other symptoms of the disease vary obviously from case to case in the same family.The female carriers with mild lesion of optic nerves.