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.

Estudo longitudinal da compreensão verbal de crianças usuárias de implante coclear

OBJETIVO: analisar a compreensão verbal de crianças surdas usuárias de implante coclear (IC) por meio de um estudo longitudinal. MÉTODOS: os participantes foram nove crianças surdas usuárias de IC. A idade cronológica das crianças variou entre quatro e oito anos e o tempo de uso do IC foi, em média, 1 ano e 6 meses na 1ª avaliação, 3 anos e 7 meses na 2ª avaliação e 4 anos e 9 meses na 3ª avaliação. As crianças foram avaliadas longitudinalmente por meio da Escala de Compreensão Verbal da RDLS. Os materiais usados foram brinquedos, objetos e figuras. Os dados foram analisados qualitativa e quantitativamente. RESULTADOS: os resultados mostraram que as crianças implantadas obtiveram uma evolução estatisticamente significante em relação às habilidades de linguagem receptiva. CONCLUSÃO: o estudo comprova a efetividade do IC para o desenvolvimento da compreensão verbal.

Estudo de família brasileira portadora de deficiência auditiva sensorioneural não-sindrômica com herança mitocondrial

O presente estudo teve como objetivo descrever os achados audiológicos e genéticos de nove membros de uma família brasileira que apresenta a mutação no DNA mitocondrial. Todos os nove membros realizaram estudo genético, avaliação foniátrica e audiológica (audiometria tonal e logoaudiometria). O estudo genético revelou a presença de mutação mitocondrial A1555G no gene 12S rRNA (MT-RNR-1) do DNA mitocondrial em todos os sujeitos. Oito sujeitos apresentaram deficiência auditiva e somente um apresentou limiares auditivos normais até o término da realização do estudo. Os resultados audiológicos apontaram para perdas auditivas bilaterais, com prevalência das simétricas, de configurações e graus variados (de moderado a profundo) e pós-linguais. Progressão da perda auditiva foi observada em dois irmãos afetados. Não foi possível afirmar a época do início da perda auditiva por falta de informação dos sujeitos, no entanto, observou-se manifestação da perda em crianças e adultos. As mutações no DNA mitocondrial representam uma causa importante de perda auditiva, sendo imprescindível a realização do diagnóstico etiopatológico, a fim de retardar o início ou evitar a progressão da surdez.

Medidas de audição de pais de indivíduos com deficiência auditiva de herança autossômica recessiva

TEMA: avaliação audiológica de pais de indivíduos com perda auditiva de herança autossômica recessiva. OBJETIVO: estudar o perfil audiológico de pais de indivíduos com perda auditiva, de herança autossômica recessiva, inferida pela história familial ou por testes moleculares que detectaram mutação no gene GJB2, responsável por codificar a Conexina 26. MÉTODO: 36 indivíduos entre 30 e 60 anos foram avaliados e divididos em dois grupos: grupo controle, sem queixas auditivas e sem história familiar de deficiência auditiva, e grupo de estudos composto por pais heterozigotos em relação a genes de surdez de herança autossômica recessiva inespecífica ou portadores heterozigotos de mutação no gene da Conexina 26. Todos foram submetidos à audiometria tonal liminar (0,25kHz a 8), audiometria de altas freqüências (9kHz a 20) e emissões otoacústicas produtos de distorção (EOAPD). RESULTADOS: houve diferenças significativas na amplitude das EOAPD nas freqüências 1001 e 1501Hz entre os grupos, sendo maior a amplitude no grupo controle. Não houve diferença significativa entre os grupos para os limiares tonais de 0,25 a 20KHz. CONCLUSÃO: as EOAPD foram mais eficazes, em comparação com a audiometria tonal liminar, para detectar diferenças auditivas entre os grupos. Mais pesquisas são necessárias para verificar a confiabilidade destes dados.

Acessibilidade aos serviços de saúde por pessoas com deficiência

OBJETIVO: Analisar as dificuldades de acessibilidade aos serviços de saúde vividas por pessoas com deficiência. PROCEDIMENTOS METODOLÓGICOS: Estudo qualitativo realizado com pessoas que relataram ter algum tipo de deficiência (paralisia ou amputação de membros; baixa visão, cegueira unilateral ou total; baixa audição, surdez unilateral ou total). Foram entrevistados 25 indivíduos (14 mulheres) na cidade de São Paulo, SP, de junho a agosto de 2007, que responderam perguntas referentes a deslocamento e acessibilidade aos serviços de saúde. A metodologia utilizada para análise foi o discurso do sujeito coletivo e as análises foram conduzidas com recurso do programa Qualiquantisoft. ANÁLISE DOS RESULTADOS: A análise dos discursos sobre o deslocamento ao serviço de saúde mostrou diversidade quanto ao usuário ir ao serviço sozinho ou acompanhado, utilizar carro particular, transporte coletivo, ir a pé ou de ambulância e demandar tempo variado para chegar ao serviço. Com relação às dificuldades oferecidas de acessibilidade pelos serviços de saúde, houve relatos de demora no atendimento, problemas com estacionamento, falta de rampas, elevadores, cadeiras de rodas, sanitários adaptados e de médicos. CONCLUSÕES: As pessoas com algum tipo de deficiência fizeram uso de meios de transporte diversificados, necessitando de companhia em alguns casos. Problemas na acessibilidade dos serviços de saúde foram relatados pelos sujeitos com deficiências, contrariando o princípio da eqüidade, preceito do Sistema Único de Saúde.

Age of Child, More than HPV Type, Is Associated with Clinical Course in Recurrent Respiratory Papillomatosis

Background: RRP is a devastating disease in which papillomas in the airway cause hoarseness and breathing difficulty. The disease is caused by human papillomavirus (HPV) 6 or 11 and is very variable. Patients undergo multiple surgeries to maintain a patent airway and in order to communicate vocally. Several small studies have been published in which most have noted that HPV 11 is associated with a more aggressive course. Methodology/Principal Findings: Papilloma biopsies were taken from patients undergoing surgical treatment of RRP and were subjected to HPV typing. 118 patients with juvenile-onset RRP with at least 1 year of clinical data and infected with a single HPV type were analyzed. HPV 11 was encountered in 40% of the patients. By our definition, most of the patients in the sample (81%) had run an aggressive course. The odds of a patient with HPV 11 running an aggressive course were 3.9 times higher than that of patients with HPV 6 (Fisher's exact p = 0.017). However, clinical course was more closely associated with age of the patient (at diagnosis and at the time of the current surgery) than with HPV type. Patients with HPV 11 were diagnosed at a younger age (2.4y) than were those with HPV 6 (3.4y) (p = 0.014). Both by multiple linear regression and by multiple logistic regression HPV type was only weakly associated with metrics of disease course when simultaneously accounting for age. Conclusions/Significance Abstract: The course of RRP is variable and a quarter of the variability can be accounted for by the age of the patient. HPV 11 is more closely associated with a younger age at diagnosis than it is associated with an aggressive clinical course. These data suggest that there are factors other than HPV type and age of the patient that determine disease course.

Interability interactions: Impact of type and visibility of disability on perceptions

Research on perceptions of people with disabilities has in general focussed on a single disability or on unspecified 'disability.' The aim of this study was to compare perceptions of several acquired disabilities from an intergroup perspective. It was hypothesised that the type (sensory or motor) and visibility of the disability would influence perceptions, and that prior contact would increase the positivity of perceptions. Participants were 155 students who gave their own, other, perceived self, and communication perceptions of male and female targets (with deafness, blindness, aphasia, or paraplegia) in vignettes. Results indicated that for most measures, people with motor disabilities were perceived more negatively than those with sensory ones, visible sensory disabilities more negatively than invisible sensory, but contrary to predictions, invisible motor more negatively than visible motor. There was some support for the association between prior contact and more positive perceptions.

Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: A case report

Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disease characterized by sensorineural hearing loss and multiple cranial nerve palsies, usually involving the VIIth and IXth to XIIth cranial nerves. We describe the clinical and pathological features of a 33-year-old woman with BVVLS. The patient developed progressive exertional dyspnea, with clinical and laboratory findings of right-sided heart failure and pulmonary hypertension. She developed status epilepticus in the setting of cardiac deterioration and respiratory infection, and died of cardiogenic and septic shock. Autopsy disclosed bilateral neuronal loss and gliosis in the inferior colliculi, locus coeruleus and facial and vestibular nuclei. Cor pulmonale is a complication of hypoventilation-induced hypoxia and hypercapnia and had not yet been reported in BVVLS. (C) 2010 Elsevier B.V. All rights reserved.

Speech perception in adolescents with pre-lingual hearing impairment with cochlear implants

Profound hearing loss is a disability that affects personality and when it involves teenagers before language acquisition, these bio-psychosocial conflicts can be exacerbated, requiring careful evaluation and choice of them for cochlear implant. Aim: To evaluate speech perception by adolescents with profound hearing loss, users of cochlear Implants. Study Design: Prospective. Materials and Methods: Twenty-five individuals with severe or profound pre-lingual hearing loss who underwent cochlear implantation during adolescence, between 10 to 17 years and 11 months, who went through speech perception tests before the implant and 2 years after device activation. For comparison and analysis we used the results from tests of four choice, recognition of vowels and recognition of sentences in a closed setting and the open environment. Results: The average percentage of correct answers in the four choice test before the implant was 46.9% and after 24 months of device use, this value went up to 86.1% in the vowels recognition test, the average difference was 45.13% to 83.13% and the sentences recognition test together in closed and open settings was 19.3% to 60.6% and 1.08% to 20.47% respectively. Conclusion: All patients, although with mixed results, achieved statistical improvement in all speech tests that were employed.

Selective Inner Hair Cell Loss in Prematurity: A Temporal Bone Study of Infants from a Neonatal Intensive Care Unit

Premature birth is a well-known risk factor for sensorineural hearing loss in general and auditory neuropathy in particular. However, relatively little is known about the underlying causes, in part because there are so few relevant histopathological studies. Here, we report on the analysis of hair cell loss patterns in 54 temporal bones from premature infants and a control group of 46 bones from full-term infants, all of whom spent time in the neonatal intensive care unit at the Hospital de Nios in San Jose, Costa Rica, between 1977 and 1993. The prevalence of significant hair cell loss was higher in the preterm group than the full-term group (41% vs. 28%, respectively). The most striking finding was the frequency of selective inner hair cell loss, an extremely rare histopathological pattern, in the preterm vs. the full-term babies (27% vs. 3%, respectively). The findings suggest that a common cause of non-genetic auditory neuropathy is selective loss of inner hair cells rather than primary damage to the cochlear nerve.

Nonsense Mutations in FGF8 Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency

Context: FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. Recently, missense mutations in FGF8, a key ligand for fibroblast growth factor receptor (FGFR) 1 in the ontogenesis of GnRH, were identified in IHH patients, thus establishing FGF8 as a novel locus for human GnRH deficiency. Objective: Our objective was to analyze the clinical, hormonal, and molecular findings of two familial IHH patients due to FGF8 gene mutations. Methods and Patients: The entire coding region of the FGF8 gene was amplified and sequenced in two well-phenotyped IHH probands and their relatives. Results: Two unique heterozygous nonsense mutations in FGF8(p.R127X and p.R129X) were identified in two unrelated IHH probands, which were absent in 150 control individuals. These two mutations, mapped to the core domain of FGF8, impact all four human FGF8 isoforms, and lead to the deletion of a large portion of the protein, generating nonfunctional FGF8 ligands. The p.R127X mutation was identified in an 18-yr-old Kallmann syndrome female. Her four affected siblings with normosmic IHH or delayed puberty also carried the p.R127X mutation. Additional developmental anomalies, including cleft lip and palate and neurosensorial deafness, were also present in this family. The p.R129X mutation was identified in a 30-yr-old man with familial normosmic IHH and severe GnRH deficiency. Conclusions: We identified the first nonsense mutations in the FGF8 gene in familial IHH with variable degrees of GnRH deficiency and olfactory phenotypes, confirming that loss-of-function mutations in FGF8 cause human GnRH deficiency. (J Clin Endocrinol Metab 95: 3491-3496, 2010)

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome

Objective: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene. However. some studies have provided evidence for genetic heterogeneity and the genotype-phenotype relationships are not clear. Our aim was to ascertain the spectrum of WFS1 mutations in Brazilian patients with WS and to examine the phenotype-genotype relationships in these patients. Design and methods: Clinical characterization and analyses of the WFS1. gene were performed in 27 Brazilian patients with WS from 19 families. Results: We identified 15 different mutations in the WFS1 gene in 26 patients, among which nine are novel. All mutations occurred in exon 8, except for one missense mutation which was located in exon 5. Although we did not find any clear phenotype-genotype relationship in patients with mutations in exon 8, the homozygous missense mutation in exon 5 was associated with a mild phenotype: onset of diabetes mellitus and optic atrophy during adulthood with good metabolic control being achieved with low doses of sulfonylurea Conclusions: Our data show that WFS1 is the major gene involved in WS in Brazilian patients and most mutations are concentrated in exon 8. Also, our study increases the spectrum of WFS1 mutations. Although no clear phenotype-genotype relationship was found for mutations in exon 8, a mild phenotype was associated with a homozygous missense mutation in exon 5.

A novel role for MNTB neuron dendrites in regulating action potential amplitude and cell excitability during repetitive firing

Principal cells of the medial nucleus of the trapezoid body (MNTB) are simple round neurons that receive a large excitatory synapse (the calyx of Held) and many small inhibitory synapses on the soma. Strangely, these neurons also possess one or two short tufted dendrites, whose function is unknown. Here we assess the role of these MNTB cell dendrites using patch-clamp recordings, imaging and immunohistochemistry techniques. Using outside-out patches and immunohistochemistry, we demonstrate the presence of dendritic Na(+) channels. Current-clamp recordings show that tetrodotoxin applied onto dendrites impairs action potential (AP) firing. Using Na(+) imaging, we show that the dendrite may serve to maintain AP amplitudes during high-frequency firing, as Na(+) clearance in dendritic compartments is faster than axonal compartments. Prolonged high-frequency firing can diminish Na(+) gradients in the axon while the dendritic gradient remains closer to resting conditions; therefore, the dendrite can provide additional inward current during prolonged firing. Using electron microscopy, we demonstrate that there are small excitatory synaptic boutons on dendrites. Multi-compartment MNTB cell simulations show that, with an active dendrite, dendritic excitatory postsynaptic currents (EPSCs) elicit delayed APs compared with calyceal EPSCs. Together with high- and low-threshold voltage-gated K(+) currents, we suggest that the function of the MNTB dendrite is to improve high-fidelity firing, and our modelling results indicate that an active dendrite could contribute to a `dual` firing mode for MNTB cells (an instantaneous response to calyceal inputs and a delayed response to non-calyceal dendritic excitatory postsynaptic potentials).

Multi-system neurological disease is common in patients with OPA1 mutations

Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal `dominant optic atrophy plus` variants and the extent of neurological involvement have not been established. In this large multi-centre study of 104 patients from 45 independent families, including 60 new cases, we show that extra-ocular neurological complications are common in OPA1 disease, and affect up to 20% of all mutational carriers. Bilateral sensorineural deafness beginning in late childhood and early adulthood was a prominent manifestation, followed by a combination of ataxia, myopathy, peripheral neuropathy and progressive external ophthalmoplegia from the third decade of life onwards. We also identified novel clinical presentations with spastic paraparesis mimicking hereditary spastic paraplegia, and a multiple sclerosis-like illness. In contrast to initial reports, multi-system neurological disease was associated with all mutational subtypes, although there was an increased risk with missense mutations [odds ratio = 3.06, 95% confidence interval = 1.44-6.49; P = 0.0027], and mutations located within the guanosine triphosphate-ase region (odds ratio = 2.29, 95% confidence interval = 1.08-4.82; P = 0.0271). Histochemical and molecular characterization of skeletal muscle biopsies revealed the presence of cytochrome c oxidase-deficient fibres and multiple mitochondrial DNA deletions in the majority of patients harbouring OPA1 mutations, even in those with isolated optic nerve involvement. However, the cytochrome c oxidase-deficient load was over four times higher in the dominant optic atrophy + group compared to the pure optic neuropathy group, implicating a causal role for these secondary mitochondrial DNA defects in disease pathophysiology. Individuals with dominant optic atrophy plus phenotypes also had significantly worse visual outcomes, and careful surveillance is therefore mandatory to optimize the detection and management of neurological disability in a group of patients who already have significant visual impairment.

Mindreading and moral awareness in popular and rejected preschoolers

This study sought to examine links among young children's peer relations, their moral understanding in terms of the ability to distinguish lies from mistakes, and their theory-of-mind development. Based on sociometric measures, 109 children with a mean age of 4.8 years were divided into groups of popular and rejected preschoolers. Rejected children who had a stable mutual friend scored higher on measures of moral understanding and theory of mind than did rejected children without such friendships. Similarly, popular children who had a stable mutual friendship outperformed other popular children on mindreading, although their moral understanding was no better than that of the popular group who lacked mutual friends. Hierarchical multiple regression analyses revealed that peer popularity was a significant independent predictor of children's moral understanding after any effects of verbal maturity, age and theory-of-mind were statistically controlled. Moreover, having a reciprocal stable friendship made a significant independent contribution to the explanation of individual differences in mindreading, over and above age and verbal maturity, which also contributed significantly. These results are discussed in terms of conversational, cognitive, and emotional processes in the development of social cognition.