Patient satisfaction in the Central Institute for the Deaf Clinic

This paper discusses a patient satisfaction survey developed for the Central Institute for the Deaf Clinic. The goal of the survey project was to establish a patient satisfaction for services baseline and to examine factors affecting patient satisfaction, such as degree of hearing loss, gender, age, and experience of the audiologist.

The effects of noise exposure on nitric oxide synthase knockout mice

This paper studies the role of nitric oxide (NOS 1, NOS 2, and NOS 3 genes) in the mouse cochlea and in noise-induced hearing loss (NIHL). Mice genetically deficient of the NOS 2 and NOS 3 genes were protected from NIHL, indicating that one or both of these genes may be responsible for producing nitric oxide that damages the inner ear when exposed to harmful levels of noise.

Genetic and temporal aspects of protection by kanamycin against cochlear noise injury

Experiments explored the minimal kanamycin dosing regimen that renders protection against noise induced hearing loss in young CBA/J mice. We also tested the age-dependence of protection in CBA/J as well as the dependence of protection on a particular genetic background in experiments using young C57BL/6J and CBA/CaJ mice.

Cytomegalovirus: Educational outcomes and implications for newborn screening

The focus of this study was to review existing literature and analyze a survey of professional opinion regarding how children with hearing loss caused by congenital cytomegalovirus (CMV) function audiologically and educationally. This study proposes a benefit for adding CMV screening to the battery of tests included in the newborn screening protocol to improve educational outcomes of children deafened from CMV.

Investigation of language and motor skills in Serbian speaking children with specific language impairment and in typically developing children

Specific language impairment (SLI) is usually defined as a developmental language disorder which does not result from a hearing loss, autism, neurological and emotional difficulties, severe social deprivation, low non-verbal abilities. Children affected with SLI typically have difficulties with the acquisition of different aspects of language and by definition, their impairment is specific to language and no other skills are affected. However, there has been a growing body of literature to suggest that children with SLI also have non-linguistic deficits, including impaired motor abilities. The aim of the current study is to investigate language and motor abilities of a group of thirty children with SLI (aged between 4 and 7) in comparison to a group of 30 typically developing children matched for chronological age. The results showed that the group of children with SLI had significantly more difficulties on the language and motor assessments compared to the control group. The SLI group also showed delayed onset in the development of all motor skills under investigation in comparison to the typically developing group. More interestingly, the two groups differed with respect to which language abilities were correlated with motor abilities, however Imitation of Complex Movements was the unique skill which reliably predicted expressive vocabulary in both typically developing children and in children with SLI.

How level and type of deafness affects user perception of multimedia video clips

Our research investigates the impact that hearing has on the perception of digital video clips, with and without captions, by discussing how hearing loss, captions and deafness type affects user QoP (Quality of Perception). QoP encompasses not only a user's satisfaction with the quality of a multimedia presentation, but also their ability to analyse, synthesise and assimilate informational content of multimedia . Results show that hearing has a significant effect on participants’ ability to assimilate information, independent of video type and use of captions. It is shown that captions do not necessarily provide deaf users with a ‘greater level of information’ from video, but cause a change in user QoP, depending on deafness type, which provides a ‘greater level of context of the video’. It is also shown that post-lingual mild and moderately deaf participants predict less accurately their level of information assimilation than post-lingual profoundly deaf participants, despite residual hearing. A positive correlation was identified between level of enjoyment (LOE) and self-predicted level of information assimilation (PIA), independent of hearing level or hearing type. When this is considered in a QoP quality framework, it puts into question how the user perceives certain factors, such as ‘informative’ and ‘quality’.

Analysis of the variability of auditory brainstem response components through linear regression

(ABR) is of fundamental importance to the investiga- tion of the auditory system behavior, though its in- terpretation has a subjective nature because of the manual process employed in its study and the clinical experience required for its analysis. When analyzing the ABR, clinicians are often interested in the identi- fication of ABR signal components referred to as Jewett waves. In particular, the detection and study of the time when these waves occur (i.e., the wave la- tency) is a practical tool for the diagnosis of disorders affecting the auditory system. In this context, the aim of this research is to compare ABR manual/visual analysis provided by different examiners. Methods: The ABR data were collected from 10 normal-hearing subjects (5 men and 5 women, from 20 to 52 years). A total of 160 data samples were analyzed and a pair- wise comparison between four distinct examiners was executed. We carried out a statistical study aiming to identify significant differences between assessments provided by the examiners. For this, we used Linear Regression in conjunction with Bootstrap, as a me- thod for evaluating the relation between the responses given by the examiners. Results: The analysis sug- gests agreement among examiners however reveals differences between assessments of the variability of the waves. We quantified the magnitude of the ob- tained wave latency differences and 18% of the inves- tigated waves presented substantial differences (large and moderate) and of these 3.79% were considered not acceptable for the clinical practice. Conclusions: Our results characterize the variability of the manual analysis of ABR data and the necessity of establishing unified standards and protocols for the analysis of these data. These results may also contribute to the validation and development of automatic systems that are employed in the early diagnosis of hearing loss.

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature

Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive end autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. Clin Dysmorphol 18:67-77 (C) 2009 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Mandibulofacial Dysostosis, Severe Lower Eyelid Coloboma, Cleft Palate, and Alopecia: A New Distinct Form of Mandibulofacial Dysostosis or a Severe Form of Johnson-McMillin Syndrome?

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson McMillin syndrome. (C) 2010 Wiley-Liss, Inc.

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Brazilian pedigree with 26 subjects affected by prelingual deafness. Given the extensive consanguinity found in this pedigree, the most probable pattern of inheritance is autosomal recessive. However, our linkage and mutational analysis revealed, instead of an expected homozygous mutation in a single gene, two different mutant alleles and a possible third undetected mutant allele in the MYO15A gene (DFNB3 locus), as well as evidence for other causes for deafness in the same pedigree. Among the 26 affected subjects, 15 were homozygous for the novel c.10573delA mutation in the MYO15A gene, 5 were compound heterozygous for the mutation c.10573delA and the novel deletion c.9957_9960delTGAC and one inherited only a single c.10573delA mutant allele, while the other one could not be identified. Given the extensive consanguinity of the pedigree, there might be at least one more deafness locus segregating to explain the condition in some of the subjects whose deafness is not clearly associated with MYO15A mutations, although overlooked environmental causes could not be ruled out. Our findings illustrate a high level of etiological heterogeneity for deafness in the family and highlight some of the pitfalls of genetic analysis of large genes in extended pedigrees, when homozygosity for a single mutant allele is expected.

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

Prevalência de perda auditiva em recém-nascidos de muito baixo peso

Objetivos: avaliar a prevalência de alterações auditivas em recém-nascidos de muito baixo peso na Unidade de Tratamento Intensivo Neonatal do Hospital de Clínicas de Porto Alegre e estudar as variáveis que possam estar relacionadas com as alterações da acui-dade auditiva. Métodos: foi realizado um estudo transversal que incluiu todos os recém-nascidos de muito baixo peso admitidos na Unidade de Tratamento Intensivo Neonatal do Hospital de Clínicas de Porto Alegre no período de 1o de setembro de 2001 a 31 de janeiro de 2002. To-dos os pacientes foram submetidos ao exame de otoemissão acústica evocada por produto de distorção no momento da alta hospitalar. O exame foi repetido em 30 dias quando havia alte-ração no primeiro exame. Quando o paciente apresentava o exame de otoemissão acústica al-terada em duas ocasiões, era realizado o potencial auditivo evocado cerebral, considerado al-terado a partir de 35 dB NA. Resultados: foram estudados 96 recém-nascidos. Seis tiveram tanto o exame de otoemissão acústica quanto o potencial auditivo evocado cerebral alterados. A média da idade gestacional foi de 31,5 ± 2,6 semanas, o peso de nascimento variou de 640 a 1.500 g e 57,3% dos pacientes eram do sexo feminino. A idade gestacional e o índice de Apgar no 5o minuto foram inferiores no grupo otoemissão acústica e potencial auditivo evocado cerebral alterados em relação aos demais grupos, atingindo significância limítrofe. Conclusões: a prevalência de perda auditiva nos recém-nascidos de muito baixo peso da Unidade de Tratamento Intensivo Neonatal do Hospital de Clínicas de Porto Alegre foi de 6,3%, tendo sido observadas associações de significância limítrofe com idade gestacional e índice de Apgar no 5o minuto.

Estudo da prevalência e das características do zumbido em trabalhadores expostos ao ruído ocupacional

Introdução: O zumbido é definido como uma sensação auditiva ilusória sem a presença de um som externo. Acomete homens e mulheres, mais comumente entre 40 e 70 anos de idade, às vezes podendo ocorrer em crianças. Análises de dados epidemiológicos indicam que a exposição ao ruído é uma das causas mais comuns de zumbido. Objetivos: Os objetivos gerais deste estudo foram verificar a prevalência do zumbido em trabalhadores expostos ao ruído ocupacional e avaliar a freqüência e a intensidade do zumbido. Os objetivos específicos foram avaliar a gravidade do zumbido; analisar a presença do zumbido por sexo, cor, idade e tempo de trabalho com exposição ao ruído e analisar a relação do zumbido com as freqüências mais acometidas na audiometria e com a presença e grau da perda auditiva, independente do nexo da perda. Materiais e Métodos: Trata-se de um estudo transversal para o qual foram selecionados 362 prontuários de trabalhadores expostos a ruído ocupacional ≥80dB(NA)/8h diárias. Estes trabalhadores haviam sido submetidos a meatoscopia, anamnese clínica e ocupacional, audiometria de via aérea, avaliação de freqüência e intensidade do zumbido e à escala de avaliação da gravidade do zumbido. Conclusão: A prevalência do zumbido foi de 9,9%. Nas análises de regressão conclui-se que trabalhadores com presença de perda auditiva em pelo menos um dos ouvidos têm 2,396 vezes mais chances de ter zumbido quando comparados com os que não tem perda auditiva. Os trabalhadores com faixa etária acima ou igual a 30 anos tem 5,353 vezes mais chances de ter perda auditiva em pelo menos um dos ouvidos quando comparados com os de faixa etária menor que 30 anos. Com relação ao tempo de trabalho em contato com o ruído, a analise estatística revela que trabalhadores com diferença de 1 ano no tempo de trabalho em contato com ruído tem um risco 5,3 % (OR=1,053) maior de apresentar perda auditiva.

A Perda Auditiva Induzida pelo Ruído (PAIR) na formação odontológica: conhecimentos e níveis de exposição

The rationalization of work in the Dentistry has been taking the professional to work for ways and systems based in the ergonomics, turning their work efficient and less tiring. Since their academic formation, the dentists surgeons are concerned with the high productivity in clinic and with the final result of the work, neglecting the way as it is executed, which reduce their work capacity and exhibits them to occupational diseases that could be minimized and/or forewarned. This research had as the main objective to investigate the knowledge of the Dentistry academics of Rio Grande do Norte Federal University concerning the Noise-induced Hearing Loss (NIHL), relating them at the noise levels that they are exposed, as well as to the preventive measures taken during the clinical activities. Was observed that 95% of the individuals know that the dentist surgeon is a professional in risk for NIHL. Among the causes of NIHL, the one that obtained the largest frequency citation was the high-speed handpieces, reminded by 92,4% of the academics. Among the students which enumerated protective measures for NIHL, 92% mentioned the use of the ear plugs, although 97% of the researched have told do not use any kind of preventive measure related to the noise. Was also observed that 96% of the academics notice the noise during the clinical attendance, what inconvenience 28,1% of them. Related the noise levels, the high-speed handpieces of the academics presented a medium value of 80,5 dB varying from 72,3 to 88,3 dB. The average of the ambient noise observed at the Integrated Clinic was about 74,8 dB. In spite of the noise levels in this research were observed below the established limits of tolerance by the legislation, they can provoke damages to the Dentistry professionals' health, or that suggests the need of an intervention and use of immediate preventive measures able to generate a healthy atmosphere of work and less risky

Desempenho auditivo ao longo do tempo e satisfação dos usuários de implante coclear com perda auditiva pós-lingual

Most cochlear implant (CI) users, who suffer from post lingual hearing loss, are able to perceive sounds and comprehend speech after the implant. The prediction of maximal benefit over time, with the use of CI, can be useful for counseling patients about their expectations in using the new device. The measurement of satisfaction should be of primary interest in medical intervention, as the results may be used for intervention feedback. The purpose of this study is to analyze auditory performance of CI over time, as well as to evaluate users‟ satisfaction. Therefore two types of study designs were employed: a) retrospective cohort study with the analysis of medical records from 59 subjects about auditory performance before and after surgery. Results were submitted to the Kaplan -Meier estimator of cumulative probability and compared to prognostic factors of auditory performance using the logrank test. b) A sectional study design was conducted to evaluate the satisfaction of 51 subjects. The instrument consists of two specific questionnaires: Satisfaction with Amplification in Daily Life SADL and International Outcome Inventory Cochlear Implant IOI- CI. Results show statistical significant differences (p<0,001) in auditory performance before and after CI. The majority obtained satisfactory results of CI use during the first six months. Logrank tests does not indicate significant correlation between the analyzed covariates and the time in which adequate speech perception occurs. SADL e IOI-CI questionnaires indicate that most of the CI users are satisfied with their devices. The SADL detected a 27, 5% insatisfaction amongst CI users in relation to services and costs involved with the CI. The results of the IOI show 4% of insatisfaction with the use of CI and the social environment. In conclusion CI is capable to rehabilitate social auditory function in a short period of time and CI users demonstrate satisfaction with auditory, social and psychological gain offered through CI device