Prevalence of GJB2 (Connexin-26) and GJB6 (Connexin-30) Mutations in a Cohort of 300 Brazilian Hearing-Impaired Individuals: Implications for Diagnosis and Genetic Counseling

Objective: Hereditary nonsyndromic deafness is an autosomal recessive condition in about 80% of cases, and point mutations in the GJB2 gene (connexin 26) and two deletions in the GJB6 gene (connexin 30), del(GJB6-D13S1830) and del(GJB6-D13S1854), are reported to account for 50% of recessive deafness, Aiming at establishing the frequencies of GJB2 mutations and GJB6 deletions in the Brazilian population, we screened 300 unrelated individuals with hearing impairment, who were not affected by known deafness related syndromes. Methods: We firstly screened the most frequently reported mutations, c.35delG and c.167delT in the GJB2 gene, and del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene, through specific techniques. The detected c.35delG and c.167delT mutations were validated by sequencing. Other mutations in the GJB2 gene were screened by single-strand conformation polymorphism and the coding region was sequenced when abnormal patterns were found. Results: Pathogenic mutations in GJB2 and GJB6 genes were detected in 41 individuals (13.7%), and 80.5% (33/41) presented these mutations in homozygosis or compound heterozygosis, thus explaining their hearing defect. The c.35delG in the GJB2 gene was the most frequent mutation (37/300; 12.4%), detected in 23% familial and 6.2% the sporadic cases. The second most frequent mutation (1%; 3/300) was the del(GJB6- D13S1830), always found associated with the c.35delG mutation. Nineteen different sequence variations were found in the GJB2 gene. In addition to the c.35delG mutation, nine known pathogenic alterations were detected 0 67delT, p.Trp24X, p.Val37lle, c.176_191del16, c.235delC, p.Leu90Pro, p.Arg127His, c.509insA, and p.Arg184Pro, Five substitutions had been previously considered benign polymorphisms: c.-15C>T, p.Val27lle, p.Met34hr, p.Ala40Ala, and p.Gly160Ser. Two previously reported Mutations of unknown pathogenicity were found (p.Lys168Arg, and c.684C>A), and two novel substitutions, p.Leu81Val (c.G241C) and p.Met195Val (c.A583G), both in heterozygosis without an accompanying mutation in the other allele. None of these latter four variants of undefined status was present in a sample of 100 hearing controls. Conclusions: The present study demonstrates that Mutations in the GJB2 gene and del(GJB6 D13S1830) are important causes of hearing impairment in Brazil, thus justifying their screening in a routine basis. The diversity of variants in our sample reflects the ethnic heterogeneity of the Brazilian population.

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

Escuta clínica e atitude fenomenológica no atendimento à pessoa surda: reflexões sobre um processo psicoterápico

Psychology uses listening as a work resource. When it comes to psychotherapy, listening establishes communication and makes psychologist-client dialogue easier. This qualitative research aims to discuss the clinic listening in phenomenological attitude in existential-phenomenological psychotherapy with deaf people. This perspective is based on the thinking of German philosopher Martin Heidegger, who considers humane a being-with and being-in-the-world, always unveiling meanings. Regarding the deaf people, Libras is currently the natural language of Brazilian deaf people. In this new language configuration, communication occurs in a visual-spatial modality. Thus, listening and speech gain new dimensions, demanding different ways of understanding in the field of psychotherapy. To the development of this research, we present excerpts from therapeutic sessions narratives with a deaf client, interpreted in the light of Heidegger s hermeneutics. We consider that it is possible for the psychotherapist to listen to deaf people in phenomenological attitude. Such position, which does not naturalize and limit the humane, helps so that the clients do not feel responsible for their existence and can hermeneutically converse in their language. In this context, the psychologist must be qualified to conduct the treatment in Libras. We hope that this research can, somehow, fill the existing gap of the scientific production about such theme in the field of Psychology and, mainly, instigate discussion in the context of Psychology courses on the importance and need to qualify psychologists for the management of clinical practice with deaf people

Análise da produção científica nacional fonoaudiológica acerca da linguagem escrita

TEMA: a produção científica nacional sobre a linguagem escrita no âmbito da Fonoaudiologia. OBJETIVO: analisar parte da produção fonoaudiológica brasileira acerca da linguagem escrita, entre os anos de 1980 a 2004, levando em conta o período da publicação; a distribuição de freqüência por período; os tipos de publicações; as sub-temáticas abordadas e a autoria. MÉTODO: a pesquisa de caráter documental configurou a opção metodológica selecionada para a realização desse estudo. Foram analisados livros, capítulos de livros e artigos publicados em sete periódicos nacionais de Fonoaudiologia (1980 a 2004). RESULTADOS: as produções científicas em torno da linguagem escrita, no período considerado, perfazem um total de 236 publicações. Desse total, 3,39% foram publicadas na década de 1980; 44,1% na década de 1990; e 52,5% durante o período de 2000-2004. Quanto ao tipo das publicações, 18,5% foram publicadas em forma de livro, 39% de capítulo de livro e 42,5% de artigo em periódico. Quanto à autoria das publicações, 42 autores (76,36%), são vinculados a instituições de ensino superior, como docentes ou discentes, com maior concentração no Estado de São Paulo e menor no Rio de Janeiro. As produções analisadas versaram sobre cinco sub-temáticas: distúrbios de linguagem escrita (52%); processo de apropriação da linguagem escrita (23,5%); surdez e linguagem escrita (8,90%); alterações neurológicas e linguagem escrita (8,22%) e escola e linguagem escrita (7,53%). CONCLUSÃO: a pesquisa permitiu recuperar parte da memória acerca da construção de um campo de atuação e de conhecimento da área fonoaudiológica: a linguagem escrita. O ascendente crescimento de publicações em torno dessa temática aponta para o implemento de pesquisas nesse campo da Fonoaudiologia e, portanto, a pertinência de estudos que objetivem analisar os rumos da produção científica relativa ao mesmo.

Potencial evocado auditivo para diagnóstico de surdez bilateral em dois cães

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

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.

Recognition of altered segments in Brazilian Sign Language

The purpose of this study was to verify discriminative control by segments of signs in adolescents with deafness who use Brazilian Sign Language (BSL). Four adolescent with bilateral deafness, with 3 years of BSL teaching, saw a video presenting a children's tale in BSL. After showing accurate understanding of the story, participants saw another video of the same story with 12 signs altered in one of their segments (hand configuration, place of articulation, or movement). They apparently did not detect the alterations. However, when the signs were presented in isolation in a matching-to-sample test, they virtually always selected the picture corresponding to the unaltered signs. Three participants selected an unfamiliar picture in 50% or more trials with an altered sign as a sample, showing that they could detect the majority of the altered signs.

Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva

INTRODUÇÃO: A Síndrome de Rubinstein-Taybi foi descrita pela primeira vez em 1963, após a observação dos traços físicos semelhantes apresentados por sete crianças com retardo mental, baixa estatura, polegares grandes e largos e anomalias faciais. Mais tarde, novas publicações definiram outras características dessa síndrome, a qual incide em 1 a cada 300.000 nascidos e apresenta etiologia incerta. Sintomas otorrinolaringológicos e fonoaudiológicos são freqüentes, daí a importância de melhor conhecimento dessa síndrome por esses especialistas. RELATO DE CASO: Apresentamos as principais manifestações clínicas, traços físicos e as avaliações auditivas de cinco crianças portadoras da Síndrome de Rubinstein-Taybi, em atendimento na Faculdade de Medicina de Botucatu (UNESP). Para as avaliações auditivas foram realizados exames de audiometria tonal, imitanciometria e potenciais evocados do tronco encefálico (BERA). As principais características observadas foram: retardo mental, baixa estatura, polegares largos, pirâmide nasal alta, palato ogival, má oclusão dentária, atraso no desenvolvimento neuropsicomotor e de linguagem. DISCUSSÃO: Os traços físicos característicos dos portadores dessa síndrome facilitam o diagnóstico, e muitos deles são responsáveis por sintomas otorrinolaringológicos e fonoaudiológicos, como infeções de vias aéreas superiores, obstrução nasal, otites médias, hipertrofia adenoamigdaliana, surdez condutiva, hipotonia perioral e disfagia. O importante comprometimento cognitivo é responsável pelo atraso no desenvolvimento da linguagem e pelo baixo rendimento escolar. CONCLUSÕES: Frente às várias manifestações otorrinolaringológicas e fonoaudiológicas apresentadas pelas crianças portadoras da Síndrome de Rubinstein-Taybi, torna-se necessário que esses especialistas conheçam melhor essa síndrome para que possam fazer o diagnóstico precoce e orientar o tratamento dessas crianças.

Conhecimentos de professores sobre perda auditiva e suas atitudes frente á inclusão

OBJETIVOS: verificar os conhecimentos dos professores sobre a perda auditiva, suas opiniões sobre a educação de alunos com esse tipo de privação sensorial e também conhecer suas atitudes frente à proposta da inclusão. MÉTODOS: participaram desta pesquisa quatro grupos de professores do ensino fundamental, com e sem experiência com aluno com perda auditiva. Os instrumentos utilizados na coleta de dados foram a Escala Lickert de Atitudes Sociais em Relação à Inclusão (ELASI) e um questionário. Comparações entre os resultados de diferentes grupos, por meio de provas estatísticas apropriadas, foram feitas, sempre que a natureza dos dados o recomendava. RESULTADOS: os professores de 1ª a 4ª séries, com e sem experiência com alunos com perda auditiva, apresentaram respostas semelhantes com referência às atitudes sociais acerca da inclusão, tanto na dimensão ideológica quanto na operacional. Professores de 5ª a 8ª séries, com e sem experiência com alunos com perda auditiva, apresentaram respostas semelhantes nos itens ideológicos, porém divergiram nos itens operacionais. em relação aos conhecimentos, os grupos de professores com experiência não apresentaram conhecimentos diferenciados sobre aspectos relativos à perda auditiva, quando comparados com os grupos de professores sem experiência, e todos os grupos enfatizaram os aspectos comunicativos. CONCLUSÃO: a análise revela que os dados provenientes de diferentes instrumentos se complementam e sugerem que os professores são ideologicamente favoráveis à inclusão, entretanto, não têm conhecimentos suficientes para operacionalizar tal proposta.

Anatomy of the oral cavity of hylid larvae from the genera Aplastodiscus, Bokermannohyla, and Hypsiboas (Amphibia, anura): Description and systematic implications

Internal larval oral anatomy was used to explore morphological diversity and its contribution to the systematics of the genera Aplastodiscus, Bokerinannohyla, and Hypsiboas, belonging to the tribe Cophomantini. Internal oral morphology was examined for tadpoles of 12 species. All species have a large pair of infralabial papillae on the buccal floor and other papillae on the prelingual region. In Aplastodiscus and Bokerinannohyla, the large infralabial papillae have digitiform secondary projections. The number and arrangement of the buccal floor papillae varies among species, but they are more numerous in Aplastodiscus and Bokerinannohyla. The arrangement of the postnarial papillae is variable, but in Aplastodiscus and Bokerinannohyla, they show a definite, inverted V-shape pattern. The lateral ridge papillae are more complex in larvae of Bokertnannohyla with long digitiform secondary projections. Tadpoles of only Aplastodiscus albofrenatus, Aplastodiscus eugenioi, and Bokerinannohyla luctuosa have papillae on the buccal roof arena and larvae of all species have lateral roof papillae except Hypsiboas albomarginatus and Hypsiboas cinerascens. Larvae of Aplastodiscus, Bokermannohyla, and Hypsiboas presumably share the presence of vacuities anterior to the internal nares; although this character state is clearly synapomorphic within hylids, it is still uncertain whether it is exclusive of these three genera or whether it is present in the other genera of the tribe Cophomantini (Hyloscirtus and Myersiohyla). The inclusion of internal oral anatomy characters, such as the narial vacuities, in systematic studies is certainly valuable because it will provide additional information toward the understanding of phylogenetic relationships.

Manifestações otorrinolaringológicas em crianças com AIDS

Introduction: The study of otolaryngologic manifestations in children HIV + can lead to early diagnosis of AIDS, allowing specific treatment, responsible by reduced morbidity and mortality. Objectives: Detect the otolaryngologic manifestations in children with AIDS and alert to the importance of the early diagnosis. Study design: Clinical prospective. Material and method: We evaluated 22 children with AIDS assisted at Faculdade de Medicina de Botucatu (São Paulo, Brasil). The medical records were reviewed and the children were submitted to otolaryngologic and hearing acuity exams. Results: We evaluated 12 boys and 10 girls, whose ages ranged from 8 months to 12 years. In B and C clinical classification were included 18 children who were using anti-retroviral medicaments. Physical examination mainly indicated cervical lymphadenopathy (18 cases), paleness of the nasal mucous membrane with abundant mucous secretion over the nasal epithelium (15 cases) and retraction of tympanic membranes (seven cases). The main otolaryngologic diagnoses were: rhinosinusitis (16 cases), oral candidiasis (13 cases), inadequate eustachian tube function (seven cases) and recurrent tonsillar infections (six cases). Conductive hearing loss were detected in 4 children. No child presented sensorineural hearing loss. Conclusions: The main otolaryngologic manifestations presented by the children with HIV virus were rhinosinusitis, oral candidiasis, inadequate eustachian tube function and recurrent tonsillar infections. The allergic aspect of the nasal mucous membrane and the cervical lymphadenopathy were frequent signs and could alert the otolaryngologyst to AIDS during the exam.

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.

The large vestibular aqueduct syndrome: A cause of neurosensory dysacusia

Background: The large vestibular aqueduct syndrome (LVAS) is characterized by the enlargement of the vestibular aqueduct associated with sensorioneural hearing loss. The level of hearing loss varies and may be fluctuant, progressive or sudden. Vestibular symptoms may be present. The diagnosis is reached by imaging methods. Aim: To report an LVAS case. Method: A female infant was submitted to a computerized tomography of the ears and to audiologic tests. Results: Enlargement of the vestibular aqueduct of more than 1.5mm and sensorioneural hearing loss in the right ear were observed. Conclusion: With an early hearing evaluation it is possible to diagnose hearing loss, even in children were this loss is unilateral. Although the literature indicates that the diagnosis of LVAS occurs at a later age, in this case time etiologic diagnosis was enabled by computerized tomography.

Associação entre otalgia, zumbido, vertigem e hipoacusia com desordens temporomandibulares

Because nonespecific symptoms and signs are associated with others well-established in the temporomandibular disorders, it is difficult for the clinician to decide what symptoms and signs should be considered during the diagnosis and the treatment plan. Therefore, the aim of this literature review was to evaluate the prevalence of aural symptoms (otalgias, tinnitus, dizziness and deafness) in patients with orofacial pain. Although several hypotheses have been proposed to explain the association between aural symptoms and temporomandibular disorders, the results of the previous studies differed in magnitude. For this reason, it is difficult to establish the prevalence of these aural symptoms concomitantly with temporomandibular disorders. Moreover, such relationship does not necessarily imply a cause-effect relationship. Because of the diagnosis complexity, different treatments must be considered, so the nonespecific symptoms of temporomandibular disorders can be effectively controlled as well. It is crucial for the the clinician to be aware of the possible etiology of aural symptoms, so he should determine if such symptoms may be associated with temporomandibular disorders and thus include them in the treatment.