Novel OTOF mutations in Brazilian patients with auditory neuropathy

The OTOF gene encoding otoferlin is associated with auditory neuropathy (AN), a type of non-syndromic deafness. We investigated the contribution of OTOF mutations to AN and to non-syndromic recessive deafness in Brazil. A test for the Q829X mutation was carried out on a sample of 342 unrelated individuals with non-syndromic hearing loss, but none presented this mutation. We selected 48 cases suggestive of autosomal recessive inheritance, plus four familial and seven isolated cases of AN, for genotyping of five microsatellite markers linked to the OTOF gene. The haplotype analysis showed compatibility with linkage in 11 families (including the four families with AN). Samples of the 11 probands from these families and from seven isolated cases of AN were selected for an exon-by-exon screening for mutations in the OTOF gene. Ten different pathogenic variants were detected, among which six are novel. Among the 52 pedigrees with autosomal recessive inheritance (including four familial cases of AN), mutations were identified in 4 (7.7%). Among the 11 probands with AN, seven had at least one pathogenic mutation in the OTOF gene. Mutations in the OTOF gene are frequent causes of AN in Brazil and our results confirm that they are spread worldwide. Journal of Human Genetics (2009) 54, 382-385; doi: 10.1038/jhg.2009.45; published online 22 May 2009

Funding special education provision by means of discriminant function analysis

This thesis is concerned with the development of a funding mechanism, the Student Resource Index, which has been designed to resolve a number of difficulties which emerged following the introduction of integration or inclusion as an alternative means of providing educational support to students with disabilities in the Australian State of Victoria. Prior to 1984, the year in which the major integration or inclusion initiatives were introduced, the great majority of students with disabilities were educated in segregated special schools, however, by 1992 the integration initiatives had been successful in including within regular classes approximately half of the students in receipt of additional educational assistance on the basis of disability. The success of the integration program brought with it a number of administrative and financial problems which were the subject of three government enquiries. Central to these difficulties was the development of a dual system of special education provision. On one hand, additional resources were provided for the students attending segregated special schools by means of weighted student ratios, with one teacher being provided for each six students attending a special school. On the other hand, the requirements of individual students integrated into regular schools were assessed by school-based committees on the basis of their perceived extra educational needs. The major criticism of this dual system of special education funding was that it created inequities in the distribution of resources both between the systems and also within the systems. For example, three students with equivalent needs, one of whom attended a special school and two of whom attended different regular schools could each be funded at substantially differing levels. The solution to these inequities of funding was seen to be in the development of a needs based funding device which encompassed all students in receipt of additional disability related educational support. The Student Resource Index developed in this thesis is a set of behavioural descriptors designed to assess degree of additional educational need across a number of disability domains. These domains include hearing, vision, communication, health, co-ordination (manual and mobility), intellectual capacity and behaviour. The completed Student Resource Index provides a profile of the students’ needs across all of these domains and as such addresses the multiple nature of many disabling conditions. The Student Resource Index was validated in terms of its capacity to predict the ‘known’ membership or the type of special school which some 1200 students in the sample currently attended. The decision to use the existing special school populations as the criterion against which the Student Resource Index was validated was based on the premise that the differing resource levels of these schools had been historically determined by expert opinion, industrial negotiation and reference to other special education systems as the most reliable estimate of the enrolled students’ needs. When discriminant function analysis was applied to some 178 students attending one school for students with mild intellectual disability and one facility for students with moderate to severe intellectual disability the Student Resource Index was successful in predicting the student's known school in 92 percent of cases. An analysis of those students (8 percent) which the Student Resource Index had failed to predict their known school enrolment revealed that 13 students had, for a variety of reasons, been inappropriately placed in these settings. When these students were removed from the sample the predictive accuracy of the Student Resource Index was raised to 96 percent of the sample. By comparison the domains of the Vineland Adaptive Behaviour Scale accurately predicted known enrolments of 76 percent of the sample. By way of replication discriminant function analysis was then applied to the Student Resource Index profiles of 518 students attending Day Special Schools (Mild Intellectual Disability) and 287 students attending Special Developmental Schools (Moderate to Severe Intellectual Disability). In this case, the Student Resource Index profiles were successful in predicting the known enrolments of 85 percent of students. When a third group was added, 147 students attending Day Special Schools for students with physical disabilities, the Student Resource Index predicted known enrolments in 80 percent of cases. The addition of a fourth group of 116 students attending Day Special Schools (Hearing Impaired) to the discriminant analysis led to a small reduction in predictive accuracy from 80 percent to 78 percent of the sample. A final analysis which included students attending a School for the Deaf-Blind, a Hospital School and a Social and Behavioural Unit was successful in predicting known enrolments in 71 percent of the 1114 students in the sample. For reasons which are expanded upon within the thesis it was concluded that the Student Resource Index when used in conjunction with discriminant function analysis was capable of isolating four distinct groups on the basis of their additional educational needs. If the historically determined and varied funding levels provided to these groups, inherent in the cash equivalent of the staffing ratios of Day Special Schools (Mild Intellectual Disability), Special Development Schools (Moderate to Severe Intellectual Disability), Day Special Schools (Physical Disability) and Day Special Schools (Hearing Impairment) are accepted as reasonable reflections of these students’ needs these funding levels can be translated into funding bands. These funding bands can then be applied to students in segregated or inclusive placements. The thesis demonstrates that a new applicant for funding can be introduced into the existing data base and by the use of discriminant function analysis be allocated to one of the four groups. The analysis is in effect saying that this new student’s profile of educational needs has more in common with Group A than with the members of Groups B, C, or D. The student would then be funded at Group A level. It is immaterial from a funding point of view whether the student decides to attend a segregated or inclusive setting. The thesis then examines the impact of the introduction of Student Resource Index based funding upon the current funding of the special schools in one of the major metropolitan regions. Overall, such an initiative would lead to a reduction of 1.54 percent of the total funding accruing to the region’s special schools.

Hypoacousis prevalence in Kaiowá and Guarani indigenous children

OBJETIVOS: identificar a prevalência de hipoacusia em crianças indígenas Kaiowá e Guarani. MÉTODOS: estudo transversal, com uma amostra de 126 crianças indígenas de zero a 59 meses da Terra Indígena de Caarapó, em Mato Grosso do Sul, Brasil. As crianças foram submetidas ao exame das emissões otoacústicas evocadas transitórias, que serviu como triagem auditiva. O reteste foi realizado nas crianças que apresentaram resultado alterado na triagem auditiva. Os casos que, no reteste, permaneceram alterados foram encaminhados para o exame da imitanciometria. RESULTADOS: na triagem auditiva, foram identificadas 25 (23,6%) crianças com resultado alterado; dessas, 17 apresentaram resultado normal no reteste e 6 permaneceram com resultado alterado, sendo encaminhadas para imitanciometria. A prevalência de hipoacusia identificada ao final do estudo foi de 5,6%, sendo 3 (2,8%) do tipo condutiva e 3 (2,8%) do tipo neurossensorial. Estas últimas foram encaminhadas à avaliação otorrinolaringológica complementar para confirmação diagnóstica. As alterações auditivas identificadas neste estudo não apresentaram diferenças significantes quanto ao sexo e grupo etário. CONCLUSÕES: a prevalência de alteração auditiva encontrada nesta população alerta para a necessidade de implantação de programas de saúde auditiva e sua articulação com outras ações desenvolvidas na atenção à saúde infantil dos Kaiowá e Guarani.

As implicações sociais da deficiência auditiva adquirida em adultos

O objetivo deste estudo foi analisar as implicações da surdez adquirida em adultos, na vida familiar, social e no trabalho, com uma abordagem qualitativa. Foram selecionadas 27 pessoas residentes em Bauru-SP, com diagnóstico de perda auditiva de manifestação súbita na faixa etária de 18 a 60 anos, matriculados no Hospital de Reabilitação de Anomalias Craniofaciais (HRAC/USP) entre janeiro de 2000 e fevereiro de 2005, sendo entrevistados 16. Utilizaram-se a entrevista e a análise de conteúdo. Constatou-se: a perda auditiva ocorreu entre os 40 e 44 anos, 37,5%; 62,5% dos que perderam a audição eram do sexo masculino, 62,5% não tinham o ensino fundamental; 62,5% eram da classe Baixa Superior; 75% apresentaram perda auditiva bilateral, 18,75% de grau moderado/profundo. Dos 13 que estavam trabalhando quando perderam a audição, 30,77% pararam de trabalhar e 15,38% mudaram de profissão. Foram relatadas situações como: afastamento do trabalho, demissão a pedido e demissão pelo empregador, dificuldade de aceitação, cobranças, falta de esclarecimentos e desconhecimento dos próprios profissionais de saúde. Os dados sugerem a necessidade dos recursos de reabilitação, de apoio terapêutico, respeito e alternativas de conhecimentos.

A vivência do pai no processo de reabilitação da criança com deficiência auditiva

Este estudo visou investigar as vivências emocionais e mecanismos de defesa de pais de crianças com deficiência auditiva. Foram entrevistados 12 genitores masculinos, de 25 a 38 anos, com escolaridade de primeiro grau incompleto a superior incompleto. Dos entrevistados, sete eram pais de filhos únicos, três, pais pela segunda vez e um pai pela terceira vez da criança com necessidade específica. As respostas foram categorizadas e analisadas com base no referencial psicodinâmico e apresentam vivências de choque, ansiedade e angústia e o uso de mecanismos de defesa frente ao diagnóstico e implicações da deficiência. As defesas constatadas foram analisadas como reações situacionalmente esperadas, podendo favorecer formas mais realistas de enfrentamento posterior. Sugere-se que, assim como mães, pais vivenciam impacto e dificuldades emocionais frente ao diagnóstico de seus filhos. Diferenças de papéis familiares facilitam ao pai um menor envolvimento na educação da criança, devendo-se valorizar a sua importância no processo de reabilitação.

Seqüência de moebius: Manifestações clínicas e avaliação auditiva

Introduction: Children with Moebius syndrome may present paralysis of cranial nerves III, IV, V, VI, VII, VIII, IX, X and XII, compromising motor and sensorial functions. Hands and feet defects (syndactyly, equinovarus and arthrogryposis) are frequently associated. These manifestations can be attributed to the use of misoprostol during pregnancy to induce abortion. Study design: Clinical prospective. Aim: To evaluate the main clinical manifestations, hearing acuity and possible etiologic factors in children with Moebius syndrome. Material and method: The children were submitted to clinical, otolaryngological and hearing acuity assessment. Hearing acuity was evaluated through behavioral tests, pure tone audiometry, tympanometry and auditory brainstem response (ABR). We investigated possible etiologic factors. Results: Three boys and two girls were evaluated. The main manifestations were: facial paralysis, paralysis of masseter muscle, defects in dental occlusion, retraction of tympanic membrane, equinovarus, oblique palpebral fissure and tongue atrophy. Conductive hearing loss was detected in three children and sensorineural hearing loss in one child. The use of misoprostol during pregnancy was reported by four mothers. Conclusions: The children with Moebius syndrome evaluated in the present study manifested palsies of various cranial nerves, especially V, VII and XII nerves, responsible for motor and sensorial alterations. Inadequate eustachian tube function associated to conductive hearing loss was frequent. The use of misoprostol during pregnancy was reported by the mothers and it was considered a possible etiologic factor.

Perfil de usuários de AASI com fissura labiopalatina

Cleft palates cause alterations in palate and lip structures, and it may also cause hearing loss because of recurrent otitis media. The appropriate treatment is controversial. It may include the prescription of antibiotics and insertion of a ventilation tube, or even otorhinolaryngological and audiological assistance, and hearing rehabilitation, with the use of an individual sound amplifier aid (ISAA). Aim: To characterize the profile of individuals with cleft palate and hearing loss, users of ISAA are assisted by the center of otorhinolaryngology and speech therapy of a hospital specialized in craniofacial anomalies and hearing impairment. Retrospective Study. Material and Methods: Retrospective analysis of 131 charts of patients with corrected cleft palate and hearing loss, fitted with ISAA by the center abovementioned. Results: The sample (n=131) was characterized by a prevalence of females (53%), unilateral incisive transforaminal cleft (27%), presence of associated anomalies (51%), history of alterations of the middle ear (56%) and surgery intervention (56%). Conclusion: The general profile of the individuals with cleft palate and hearing loss, fitted with ISAA, was characterized by the predominance of cleft lip and palate, positive history of middle ear alterations, surgery intervention and bilateral sensorineural hearing loss. © Revista Brasileira de Otorrinolaringologia. All Rights reserved.

Perfil audiológico e genético de pacientes com perda auditiva sensorioneural não sindrônica atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu-Universidade Estadual Paulista

Pós-graduação em Bases Gerais da Cirurgia - FMB

Triagem auditiva neonatal universal: a experiência de dois hospitais públicos no município de Campo Grande - MS, no período de janeiro de 2002 a dezembro de 2005

Pós-graduação em Pediatria - FMB

Escolares com malformação de orelha externa e/ou média: avaliação do desempenho escolar e dos comportamentos sociais

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Avaliação audiomética em pacientes tratados de meningite por Cryptococcus gattii

Este estudo mostra a avaliação audiométrica, composta de audiometria tonal limiar e imitanciometria, em pacientes tratados de meningite por Cryptococcus gattii. Trata-se de um estudo tipo relato de casos. Foram avaliados seis pacientes com infecção comprovada do sistema nervoso central pelo Cryptococcus gattii, internados no Hospital Universitário João de Barros Barreto, entre janeiro de 2000 a novembro de 2007, para tratamento antifúngico. A idade dos pacientes analisados variou entre 12 e 37 anos. Três eram homens e três mulheres. Todos procedentes de municípios vizinhos, não sendo ninguém da capital Belém. As principais manifestações clínicas foram cefaléia e vômitos, presentes nas histórias de todos os pacientes, seguidas de febre e rigidez de nuca, cada uma delas ausentes em apenas um paciente, não coincidentes. O tempo de doença até o diagnóstico variou de 3 a 8 semanas. Dos três homens avaliados, dois apresentaram perda auditiva. Num deles a perda foi moderada e unilateral e no outro foi assimétrica e bilateral. Das três mulheres, apenas uma apresentou alteração auditiva. Nessa paciente houve apenas um rebaixamento leve numa freqüência isolada, de 4.000 Hz. Descreve-se achados audiométricos em relato de casos de pacientes tratados de meningite por Cryptococcus gattii.

Estudo de mutações no gene GJB2 e deleção delGJB6-D13S1830 em indivíduos com surdez não sindrômica da região Amazônica

A deficiência auditiva afeta cerca de 1 em cada 1000 recém-nascidos. Mutações no gene da conexina 26 (GJB2) são as causas mais frequentes de surdez não sindrômica em diferentes populações e é sabido que a mutação delGJB6-D13S1830 em DFNB30 é causadora de surdez neurossensorial. Muitos estudos descrevem o envolvimento de mutações no gene GJB2 com a deficiência auditiva em diferentes populações. Entretanto, existe pouca informação sobre a surdez genética no Brasil, especialmente na região Amazônica. OBJETIVO: Determinar a prevalência de mutações no gene GJB2 e da mutação delGJB6-D13S1830 em 77 casos esporádicos de surdez não sindrômicas. MÉTODO: A região codificante do gene GJB2 foi sequenciada e a PCR foi realizada para detectar a mutação delGJB6-D13S1830. RESULTADOS: O alelo 35delG foi encontrado em 9% dos pacientes (7/77). As mutações M34T e V95M foram detectadas em dois distintos pacientes heterozigotos. A mutação não patogênica V27I foi detectada em 28,6% (22/77). Não foi detectada a mutação delGJB6-D13S1830 em nenhum paciente estudado. CONCLUSÃO: Alelos mutantes no gene GJB2 foram observados em 40% (31/77) da amostra. Variantes patogênicas foram detectadas em apenas 12% (9/77). Mais estudos são necessários para elucidar causas genéticas de deficiência auditiva em populações miscigenadas.

Uso de aparelho de amplificação sonora individual por idosos: estudo SABE - saúde, bem- estar e envelhecimento

PURPOSE: Describe hearing aid use by the elderly population in the city of São Paulo and identify associated factors. METHODS: A cross-sectional, descriptive, quantitative study integrated with the SABE (health, well-being and aging) project developed in 2006. A total of 1.115 individuals aged 65 or over were interviewed. Sample selection occurred in two stages, with replacement and probabilities proportional to the population to complement those aged 75 or over. Structured questionnaires and validated instruments were used. The data were weighted, the Rao-Scott test was used for univariate analysis and backward stepwise logistic regression was used for multivariate analysis, performed on Stata 10® software. RESULTS: Three hundred and seventy-seven subjects (30.4%) were classified as hearing impaired and 10.1% of these reported using hearing aids. To acquire the devices, 78.8% used their own resources and 16.9% acquired them through the Brazilian public health system (SUS). Among non-users of hearing aids, 16.6% reported prior indication; however, 8.6% were unable to adapt to the device and 8.0% could not afford to acquire one. Hearing aid use was associated with lower prevalence of probable dementia. CONCLUSION: The low number of hearing aid users indicates the difficulties elderly people face in acquiring them and/or that the health services face in effectively helping them to adapt. These findings may influence the quality of life of elderly with hearing impairment, given the association with probable dementia revealed by this study.

Estudo evolutivo de concepções de crianças e adolescentes sem deficiência sobre as deficiências e suas atitudes sociais em relação à inclusão

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Perfil audiológico e habilidades auditivas em crianças e adolescentes com perda auditiva

The main impact of hearing loss, in childhood, is the difficult to speech perception. The hearing aids and the cochlear implant are resources used to decrease a result of hearing loss. After the adjustment of these resources, with the therapeutic process, is possible that children with profound hearing impairment develop their hearing abilities, so they will have possibilities to notice phonetic and phonological characteristics of the language. Different speech perception procedures investigate which phonetic and phonological characteristics of the speech segment can be noticed by children with hearing loss. This study aims at analyzing the audiology profile and the speech perception in deaf children and adolescent.