Made available in DSpace on 2016-04-27T18:12:26Z (GMT). No. of bitstreams: 1 Renata Mathias de Abreu.pdf: 1280744 bytes, checksum: 393c24827501b7ec922434fffb9da682 (MD5) Previous issue date: 2007-10-09 / This search´s objective was to describe and understand the development of the Speech Pathology intervention at babies in maternities from Salvador, how was the beginning of this intervention and how the practice is configured according the intitutions conditions. For this, a survey was realized to know the hospitals/maternities that exist in this city and then, a questionnaire was aplyed to verify if these places contain ICU´s and SICU s and Speech Pathologist working, the kind of relationship between this professional and the institution, and also the area that these professionals are working. Also were realized eight interviews with Speech Pathologists who introduced the service in maternities in Salvador (Ba). The interviews were transcribed, textualized, transformed to a deposition, and then analyzed and argued. From 16 maternities, only 14 answered the questionnaire, and there are Speech pathologists working in 9 of these- one of them is voluntary and another is under contract. Some Speech Pathologists just served the hospital or, in some cases, they were called by the newborn s family. The most part of these professionals work at the audiology area, realizing NHS; there are also some of them who realize sporadic sessions in oral motricity (OM). The interviews covered aspects like: scarcity at the undergraduation to act with babies; search of ways to complement the undergraduation and insert the professionals in the area; ways to spreading the service next to scientific production at the area, like the use of protocol; difficulties to be accepted at maternities, like delimitation of interested areas, resistance and lack of knowledge at others health professionals; possibility of acceptance in some multiprofessionals teams; initiative to introduce the service of Speech Pathology in maternities at audiology and oral motricity areas, like preconized at the literature; perspectives of work to Speech pathologists in public and private institutions. In spite of the area be in expansion, through this study was possible to know that there is a lack between the Speech pathologist´s presence necessity, and the way these professionals are working in hospitals/maternities in Salvador. Even with good searches around this topic, the ones that reflect the development of the most diversified clinical practices, there is already a question: why are there no Speech pathologists inserted at multiprofessionals teams in hospitals/maternities as a routine?! / Este estudo teve como objetivo descrever e compreender o desenvolvimento do trabalho do fonoaudiólogo com bebês nas maternidades de Salvador, como foi seu início e como as práticas estão configuradas diante das condições institucionais. Para tanto, foi realizado um levantamento dos hospitais/maternidades existentes nessa cidade e, em seguida, foi aplicado um questionário para verificar a existência de UTIN s e USIN s e em quais delas havia fonoaudiólogos atuando, o tipo de vínculo desse profissional com a instituição e qual a área de atuação. Foram também realizadas oito entrevistas com fonoaudiólogas que implantaram o trabalho em maternidades de Salvador (Ba). As entrevistas foram transcritas, textualizadas, transcriadas e, então, analisadas e discutidas. Das 16 maternidades existentes, apenas 14 responderam ao questionário, sendo que em 9 destas há fonoaudiólogos trabalhando - um deles como trabalho voluntário e outro, por contrato. Alguns apenas prestavam serviço ao hospital ou, em alguns casos, haviam sido contratadas pela família dos RN s. A maioria dos profissionais atua na área de audiologia, realizando a TAN; há também alguns que realizam atendimentos esporádicos de Motricidade Orofacial (MO). As entrevistadas abordaram aspectos como: escassez de formação acadêmica para a atuação com bebês; busca de recursos para complementar a formação e inserção na área; formas de divulgação do trabalho em consonância com a produção científica desse campo de conhecimento, como uso de protocolos; dificuldades de inserção nas maternidades, como delimitação de áreas afins, resistência e desconhecimento dos parte da equipe de saúde; possibilidades de inserção nas equipes multiprofissionais; iniciativas para implantação do serviço de Fonoaudiologia nas maternidades nas áreas de audiologia e motricidade oral, como preconizado na literatura da área; perspectiva do mercado de trabalho para o fonoaudiólogo em instituições públicas e privadas. Apesar de o campo estar em expansão, por meio deste estudo foi possível constatar que há ainda um descompasso entre a necessidade do trabalho fonoaudiológico e a real atuação desse profissional nas instituições hospitalares de Salvador. Mesmo com uma produção significativa de estudos na área, que refletem o crescimento das diversas práticas clínicas, ainda persiste uma pergunta: por que ainda não temos fonoaudiólogos inseridos nas equipes multiprofissionais de hospitais/maternidades como uma rotina?

Made available in DSpace on 2016-04-27T18:12:29Z (GMT). No. of bitstreams: 1 Patricia de Carvalho Monteiro.pdf: 932655 bytes, checksum: 461ce0c9497d2864e3b6c289eadbeefc (MD5) Previous issue date: 2008-02-27 / Conselho Nacional de Desenvolvimento Científico e Tecnológico / Objective: To investigate the cost x effectiveness of five newborn hearing screening (NHS) protocols in a public hospital in São Paulo. Methods: Clinical outcomes from 2060 newborns, screened during a nine months period, using a protocol of NHS with Transient Otoacoustic Emissions (TEOAE) and Automated Auditory Brainstem Response (AABR). It was possible to analyze five protocols for cost and effectiveness. Protocol 1: UNHS with TEOAE in two stages; protocol 2: UNHS with TEOAE in the first stage, AABR in the second stage; protocol 3: UNHS - neonates without Risk Factors were screened with TEOAE in the first stage and AABR in second stage. Neonates with risk factors were screened only with AABR; protocol 4: Selective NHS (SNHS) - using TEOAE in a combination with AABR in two stages; protocol 5: SNHS - with AABR in two stages. All newborns who referred before discharge should return in 15 days for re-screen. The effectiveness of the protocols was evaluated by the indicators of quality of Joint Committee on Infant Hearing (2007) and the cost was estimated by the proposal of the National Center for Hearing Assessment and Management (2003). Results: The results were presented regarding the percentage of newborns screened, newborns referred for diagnosis and the cost per newborn screened. We found the following results: protocol 1: 92% of newborns screened, 2.1% of newborns referred for diagnosis and cost of $7.53; protocol 2: 88% of newborns screened, 0.5% of newborns referred for diagnosis and cost of $8.9; protocol 3: 86% of newborns screened, 0.6% of newborns referred for diagnosis and cost of $9.16; protocol 4: 71% of newborns screened, 7.3% of newborns referred for diagnosis and cost of $61.1; protocol 5: 71% of newborns screened, 2% of newborns referred for diagnosis and cost of $56.1. Conclusion: The protocol 3 was considered the better for cost and effectiveness in order to identify cochlear hearing loss for newborns without risk factors, and cochlear and retrocochlear hearing loss for neonates with risk factors / Objetivo: O objetivo desta pesquisa foi descrever as relações de custo x efetividade para cinco protocolos de Triagem Auditiva Neonatal (TAN), no ano de sua implementação em uma maternidade de São Paulo. Método: Durante o período de nove meses, nasceram 2060 neonatos, os quais realizaram um protocolo padrão de TAN com uso de Emissões Otoacústicas por Estímulo Transiente (EOAT) e Potencial Evocado Auditivo de Tronco Encefálico Automático (PEATE-A). Este protocolo propiciou o estudo de cinco protocolos para análise de custo e efetividade. Protocolo 1: TANU com o uso de EOAT em duas etapas; Protocolo 2: TANU com uso de EOAT na primeira etapa, PEATE-A na segunda etapa, ainda antes da alta.; Protocolo 3: TANU - neonatos sem Indicador de Risco para Perda Auditiva foi utilizada a EOAT na primeira etapa e PEATE-A ainda antes da alta para os que falharam. Para os neonatos com indicadores de risco foi utilizado o PEATE-A em duas etapas; Protocolo 4: TAN Seletiva (TANS) - com o uso de EOAT e PEATE-A combinados em duas etapas; Protocolo 5: TANS - com o uso de PEATE-A em duas etapas. Todos os neonatos que falharam no retorno foram encaminhados para diagnóstico. A efetividade dos protocolos foi avaliada pelos indicadores de qualidade do Joint Committee on Infant Hearing (2007) e o custo foi estimado por meio da proposta do National Center of Hearing Assesment and Management (2003). Resultados: Os resultados foram apresentados em relação à porcentagem de neonatos triados, neonatos encaminhados para diagnóstico e respectivo custo por neonato triado. Foram encontrados os seguintes resultados: protocolo 1: 92% de neonatos triados, 2,1% de neonatos encaminhados para diagnóstico e custo de R$13,56; protocolo 2: 88% de neonatos triados, 0,5% de neonatos encaminhados para diagnóstico e custo de R$ 16; protocolo 3: 86% de neonatos triados, 0,6% de neonatos encaminhados para diagnóstico e custo de R$16,43; protocolo 4: 71% de neonatos triados, 7,3% de neonatos encaminhados para diagnóstico e custo de R$110; protocolo 5: 71% de neonatos triados, 2% de neonatos encaminhados para diagnóstico e custo de R$101. Conclusões: Concluiu-se que o melhor protocolo na relação custo x efetividade foi o Protocolo 3, com utilização de EOAT para neonatos sem indicadores de risco, PEATEA no caso de falha antes da alta hospitalar, e apenas o PEATE-A para crianças com indicadores de risco, na TANU

Objetivo: Analisar a etapa do reteste da Triagem Auditiva Neonatal (TAN) a partir dos dados encontrados em um hospital de Porto Alegre, bem como analisar os motivos da falta ao reteste, dos bebês que falharam no teste neste mesmo hospital e sugerir possíveis intervenções na gestão. Método: Trata-se de um estudo quanti-qualitativo, descritivo e transversal, desenhado a partir da análise dos dados da fase do reteste da TAN. Para analisar os motivos da falta ao reteste dos bebês que falharam na TAN, foram realizadas entrevistas por telefone, a fim de, obter informações que apontassem as causas das faltas. Resultados: o total de casos analisados foi de 1.202 bebês. Na indicação para o reteste foram identificados 165 (13.8%). Quanto aos faltosos - na etapa do reteste - foram encontrados 38 bebês (23%), cabe ressaltar que o número de faltosos foram calculados sobre o número dos indicados para o reteste. Das 38 famílias contatadas, 32 responderam ao contato telefônico. Os diagnosticados com surdez foram 24 (2%), ficaram em monitoramento 301 (25.2%) e tiveram alta 651 (54.5%) bebês. Quanto ao motivo mais prevalente do não comparecimento à etapa do reteste, foi esquecimento. Para reverter esse cenário, a sugestão é articulação com políticas públicas existentes, como Atenção Básica e Primeira Infância Melhor, com busca ativa dos bebês e reforço no processo de informação das mães e familiares. / Objective: To analyze the stage of retest of Newborn Hearing Screening (NHS) from data found in a hospital in Porto Alegre, analyze the reasons for the absence to the retest of infants who failed the test in this hospital and suggest possible interventions in management. Method: This is a quantitative-qualitative, descriptive and cross-sectional study drawn from the data analysis phase of the NHS retest. To analyze the reasons for the absence to the retest of babies who failed the NHS, interviews were conducted by telephone so as to obtain information that pointed out the causes of absences. Results: The total number of analyzed cases was 1.202 babies. In the indication for retesting 165 (13.8%) were indentified. As for absences – in the retest step - 38 infants (23%) were found. It is worth noting that the number of absences was calculated from the number of indications for retest. From the 38 telephone calls made to families, 32 replied to contact. Cases diagnosed with deafness were 24 (2%). Other 301 (25.2%) cases remained in monitoring and 651(54.5%) infants were discharged. The most common reason for not attending the retest step was forgetfulness. In order to reverse this scenario, the suggestion is the articulation in conjunction with existing public policies, such as Primary Care and Better Early Childhood Development Program and an active search for infants and the strengthening of the information process of mothers and family.

Objetivo: Analisar a etapa do reteste da Triagem Auditiva Neonatal (TAN) a partir dos dados encontrados em um hospital de Porto Alegre, bem como analisar os motivos da falta ao reteste, dos bebês que falharam no teste neste mesmo hospital e sugerir possíveis intervenções na gestão. Método: Trata-se de um estudo quanti-qualitativo, descritivo e transversal, desenhado a partir da análise dos dados da fase do reteste da TAN. Para analisar os motivos da falta ao reteste dos bebês que falharam na TAN, foram realizadas entrevistas por telefone, a fim de, obter informações que apontassem as causas das faltas. Resultados: o total de casos analisados foi de 1.202 bebês. Na indicação para o reteste foram identificados 165 (13.8%). Quanto aos faltosos - na etapa do reteste - foram encontrados 38 bebês (23%), cabe ressaltar que o número de faltosos foram calculados sobre o número dos indicados para o reteste. Das 38 famílias contatadas, 32 responderam ao contato telefônico. Os diagnosticados com surdez foram 24 (2%), ficaram em monitoramento 301 (25.2%) e tiveram alta 651 (54.5%) bebês. Quanto ao motivo mais prevalente do não comparecimento à etapa do reteste, foi esquecimento. Para reverter esse cenário, a sugestão é articulação com políticas públicas existentes, como Atenção Básica e Primeira Infância Melhor, com busca ativa dos bebês e reforço no processo de informação das mães e familiares. / Objective: To analyze the stage of retest of Newborn Hearing Screening (NHS) from data found in a hospital in Porto Alegre, analyze the reasons for the absence to the retest of infants who failed the test in this hospital and suggest possible interventions in management. Method: This is a quantitative-qualitative, descriptive and cross-sectional study drawn from the data analysis phase of the NHS retest. To analyze the reasons for the absence to the retest of babies who failed the NHS, interviews were conducted by telephone so as to obtain information that pointed out the causes of absences. Results: The total number of analyzed cases was 1.202 babies. In the indication for retesting 165 (13.8%) were indentified. As for absences – in the retest step - 38 infants (23%) were found. It is worth noting that the number of absences was calculated from the number of indications for retest. From the 38 telephone calls made to families, 32 replied to contact. Cases diagnosed with deafness were 24 (2%). Other 301 (25.2%) cases remained in monitoring and 651(54.5%) infants were discharged. The most common reason for not attending the retest step was forgetfulness. In order to reverse this scenario, the suggestion is the articulation in conjunction with existing public policies, such as Primary Care and Better Early Childhood Development Program and an active search for infants and the strengthening of the information process of mothers and family.

Objetivo: Analisar a etapa do reteste da Triagem Auditiva Neonatal (TAN) a partir dos dados encontrados em um hospital de Porto Alegre, bem como analisar os motivos da falta ao reteste, dos bebês que falharam no teste neste mesmo hospital e sugerir possíveis intervenções na gestão. Método: Trata-se de um estudo quanti-qualitativo, descritivo e transversal, desenhado a partir da análise dos dados da fase do reteste da TAN. Para analisar os motivos da falta ao reteste dos bebês que falharam na TAN, foram realizadas entrevistas por telefone, a fim de, obter informações que apontassem as causas das faltas. Resultados: o total de casos analisados foi de 1.202 bebês. Na indicação para o reteste foram identificados 165 (13.8%). Quanto aos faltosos - na etapa do reteste - foram encontrados 38 bebês (23%), cabe ressaltar que o número de faltosos foram calculados sobre o número dos indicados para o reteste. Das 38 famílias contatadas, 32 responderam ao contato telefônico. Os diagnosticados com surdez foram 24 (2%), ficaram em monitoramento 301 (25.2%) e tiveram alta 651 (54.5%) bebês. Quanto ao motivo mais prevalente do não comparecimento à etapa do reteste, foi esquecimento. Para reverter esse cenário, a sugestão é articulação com políticas públicas existentes, como Atenção Básica e Primeira Infância Melhor, com busca ativa dos bebês e reforço no processo de informação das mães e familiares. / Objective: To analyze the stage of retest of Newborn Hearing Screening (NHS) from data found in a hospital in Porto Alegre, analyze the reasons for the absence to the retest of infants who failed the test in this hospital and suggest possible interventions in management. Method: This is a quantitative-qualitative, descriptive and cross-sectional study drawn from the data analysis phase of the NHS retest. To analyze the reasons for the absence to the retest of babies who failed the NHS, interviews were conducted by telephone so as to obtain information that pointed out the causes of absences. Results: The total number of analyzed cases was 1.202 babies. In the indication for retesting 165 (13.8%) were indentified. As for absences – in the retest step - 38 infants (23%) were found. It is worth noting that the number of absences was calculated from the number of indications for retest. From the 38 telephone calls made to families, 32 replied to contact. Cases diagnosed with deafness were 24 (2%). Other 301 (25.2%) cases remained in monitoring and 651(54.5%) infants were discharged. The most common reason for not attending the retest step was forgetfulness. In order to reverse this scenario, the suggestion is the articulation in conjunction with existing public policies, such as Primary Care and Better Early Childhood Development Program and an active search for infants and the strengthening of the information process of mothers and family.

The field of early detection and intervention of hearing loss in neonates and infants has been marked by a growing international body of research investigating hearing screening programmes, protocols and outcomes of early detection for hearing loss. In South Africa, screening for neonates and infants in general and particularly for hearing loss is not common practice and is not meeting the needs of the South African population, with very few infants identified with hearing loss early in life. The Year 2002 Hearing Screening Position Statement recommends an intermediate step toward universal screening in the form of Targeted Newborn Hearing Screening (TNHS) as an option for developing countries with limited resources. The Neonatal Intensive Care Unit (NICU) provides a starting point for TNHS because it encompasses a number of risk factors for hearing loss. A combined descriptive and exploratory research methodology was followed to provide a comprehensive perspective on longitudinal hearing screening for NICU neonates and infants at a provincial hospital in South Africa. The quantitative methods included a structured interview to compile risk factor information. Immittance measurements used included acoustic reflex measurements, 226 Hz and 1000 Hz tympanometry. Automated Otoacoustic Emission (AOAE) as well as Automated Auditory Brainstem Response (AABR) screening was conducted. Routine follow-up visits at three month intervals were booked if a subject passed the screen and a follow-up screening for further testing was booked if a subject referred the screening. A total of 49 neonates and infants as well as mothers were enrolled in the first year and followed up for the second year of data collection period. The results indicated that the NICU had potential as platform for TNHS in South Africa. The high incidence of risk factors reported is more when compared with developed countries and highlights the importance of hearing screening in the at risk population for a developing country. The results confirmed reports that 226 Hz probe tone tympanometry produces erroneous responses in young infants. A high correspondence between high frequency tympanometry and AOAE results was found and underlines the need for differential diagnosis to accurately detect middle ear effusion and/or sensorineural hearing loss in neonates and infants. The unilateral AOAE refer rate (7%) was within range of the reported values for initial screening at discharge from the NICU. AABR results indicated a relatively high unilateral refer result (24%) and may be attributed to irritability and restlessness. The highest referral rates in the current study were recorded during the second and third visit and may be attributed to the presence of middle-ear pathology in older infants. The perceptions of mothers emphasized the lack of awareness regarding hearing and hearing loss in South Africa. Lack of knowledge may be a contributing actor to poor compliance with screening follow-up. Despite prevailing challenges, such as a low follow-up return rate, lack of awareness regarding the benefits of early detection of hearing loss, the effect of middle ear effusion on screening results, the cost of hearing screening and different priorities of the national healthcare system, such as Human Immunodeficiency Virus, demonstrated the NICU promise as platform for TNHS in South Africa. TNHS programmes may serve as starting point to direct universal neonatal hearing screening programmes in South Africa. / Dissertation (MCommunication Pathology)--University of Pretoria, 2008. / Speech-Language Pathology and Audiology / MComm Path / unrestricted

Rapid implementation of universal newborn hearing screening programs has exposed a need for a reliable test of middle ear function for timely identification of middle ear pathology and for differentiation between true sensorineural and conductive hearing losses. Use of higher probe tone frequencies for the assessment of immitance measures have proven to be more reliable and accurate in identifying MEE in infants. However a lack of classification-guidelines and age specific normative data exists. This study investigated the characteristics and normative values of high frequency tympanometric and acoustic reflex results for infants (n = 936 ears). Participants were 510 infants (262 male, 248 female) aged 0 – 12 months (mean age = 12.8 weeks) recruited from primary health care and immunization clinics in a South African community. A three-part procedure was performed on each test ear: 1) OAEs were recorded and pass results served as control variable for normal middle ear functioning; 2) 1000 Hz probe tone admittance, susceptance and conductance tympanograms were recorded and analysed in terms of shape, tympanometric peak pressure and maximum (peak) admittance; 3) 1000 Hz probe tone acoustic reflexes, measured with a 1000 Hz ipsilateral stimulus, were recorded and thresholds determined. Significant associations were observed between tympanogram shape, and OAE pass or fail results. 93% of ears with an OAE pass result displayed peaked tympanograms, while 79% of ears with absent OAE’s displayed flat tympanograms. Single peaked tympanograms were recorded in 782 ears (84%), double peaked tympanograms in 41 (4%) ears and flat sloping tympanograms in 112 (12%) ears. Admittance (Ya) tympanograms for the total sample displayed a mean admittance value of 2.9 mmho, with a standard deviation of 1.1 mmho. The 90th percent range was determined at 1.5 mmho (5th percentile) to 4.9 mmho (95th percentile). Mean tympanometric peak pressure in Ya tympanograms was 0.1 daPa, with a standard deviation of 61 daPa. The 90th percent range was -110 daPa to 90 daPa for the 5th and 95th percentiles respectively. Gender specific norms indicated a higher admittance for male ears. Age specific norms indicate a gradual increase in admittance indicating the need for age specific normative classification systems. Ipsilateral 1000 Hz stimuli acoustic reflex measurement proved successful with a 1000 Hz probe tone and present reflexes were recorded in 84% of ears tested. Significant association between acoustic reflex presence, OAE pass and peaked tympanogram results were observed. The normative tympanometric values derived from the cohort may serve as a guide for identification of middle ear effusion in neonates. High frequency tympanometry in combination with acoustic reflexes proves a useful measure for verifying middle ear functioning in young infants. / Dissertation (M (Communication Pathology))--University of Pretoria, 2006. / Speech-Language Pathology and Audiology / M (Communication Pathology) / unrestricted

Submitted by Renata Lopes (renatasil82@gmail.com) on 2016-01-11T11:36:31Z No. of bitstreams: 1 helgamendesdiasbinato.pdf: 3740763 bytes, checksum: 68d192870046cd2d79d431fc61985c7e (MD5) / Approved for entry into archive by Adriana Oliveira (adriana.oliveira@ufjf.edu.br) on 2016-01-25T17:04:48Z (GMT) No. of bitstreams: 1 helgamendesdiasbinato.pdf: 3740763 bytes, checksum: 68d192870046cd2d79d431fc61985c7e (MD5) / Made available in DSpace on 2016-01-25T17:04:48Z (GMT). No. of bitstreams: 1 helgamendesdiasbinato.pdf: 3740763 bytes, checksum: 68d192870046cd2d79d431fc61985c7e (MD5) Previous issue date: 2015-03-27 / O sistema auditivo é responsável por identificar, localizar e processar os sons, permitindo ao recém-nascido a percepção do mundo sonoro e o aprendizado da linguagem oral. Deficiências nesse sistema prejudicam as habilidades da comunicação, dificultam ou impedem a compreensão do discurso, acarretam prejuízos cognitivos, sociais e emocionais. As literaturas nacional e internacional preconizam a detecção e intervenção precoces seguidas do monitoramento audiológico dos neonatos e lactentes com presença de indicadores de risco para a deficiência auditiva, haja vista a existência das deficiências tardias. São considerados indicadores de risco as intercorrências pré, peri e pós natais que possam vir a causar a deficiência auditiva. O presente estudo teve como objetivo verificar a associação entre os indicadores de risco e as alterações auditivas em neonatos e lactentes através de estudo transversal. Foram analisados 292 prontuários pertencentes a uma clínica de referência em saúde auditiva do município de Juiz de Fora, de onde foram coletados dados referentes à idade, sexo, intercorrências pré, peri e pós natais, resultados das emissões otoacústicas, imitanciometria e potencial evocado auditivo de tronco encefálico. Os dados foram processados através do programa estatístico Statistical Package for the Social Sciences (SPSS), versão 14.0. Foi realizada uma estimativa do grau da alteração auditiva, onde se verificou na OD normalidade em 67,1%, alterações leves em 4,1%, moderadas também em 4,1%, moderadamente severas em 4,8%, severas em 7,2% e profundas em 12,7% da população do estudo. Na OE observou-se normalidade em 63,4%, alterações leves em 4,8%, moderadas em 6,2%, moderadamente severas em 5,5%, severas em 5,1% e profundas em 15,1%. Constataram-se alterações em 121 exames de potencial evocado auditivo de tronco encefálico, sendo que 13,4% apresentaram alteração em apenas uma orelha e 28,1% apresentaram alteração bilateral. Na análise bivariada foram encontradas diferenças estatisticamente significantes para as variáveis exposição à ventilação mecânica, passagem pela unidade de terapia intensiva neonatal, ficar na incubadora, não reagir ao barulho (percepção dos pais), alterações neurológicas, encefalopatia, meningite, utilização de medicamento no período neonatal e a alteração auditiva. Foram desenvolvidos modelos de regressão logística, nos quais foram incluídas as variáveis com valor-p menor do que 0,05. Verificou-se que o fator mais fortemente associado a alteração auditiva nos neonatos e lactentes foi a percepção dos pais quanto a reação ao barulho (OR= 15), seguido da utilização de medicação no período neonatal (OR=3,06), passagem pela UTIN (OR=2,49) e utilização de VM (OR=2,29). / The hearing system is responsible for identifying, finding and processing sounds, allowing the newborn to both perceive different sounds and learn oral language. Disabilities in the hearing system may hinder communication skills. In addition, they may hinder or impede speech comprehension as well as give rise to cognitive, social and emotional losses. According to national and international literature, detection and intervention should be done as soon as possible followed by audiology monitoring in newborns and infants with risk indicators. Risk indicators are pre, peri and postnatal complications that may cause hearing disabilities. The present article aims to study the relation between risk indicators and hearing impairment in newborns and infants through a cross-sectional study. 292 medical charts were analysed from an auditory clinic in Juiz de Fora. Collected data included age, sex, pre, peri and postnatal complications, otoacoustic emission results and brainstem auditory evoked potential. Data were analysed through 14.0 Statistical Package for the Social Sciences (SPSS) program. The degree of hearing impairment was estimated. For the right ear, 67.1% were normal, 4.1% showed mild impairment, 4.1% moderate impairment, 4.8% slightly severe impairment, 7.2% severe impairment and 12.7% extremely severe impairment in the study group. For the left ear, 63.4% were normal, 4.8% showed mild impairment, 6.2% moderate impairment, 5.5% slightly severe impairment, 5.1% severe impairment and 15.1% extremely severe impairment. Out of 121 abnormal brainstem auditory evoked potential tests, 13.4% showed hearing impairment in only one of the ears. 28.1% showed hearing impairments in both ears. In the bivariate analyses, statistically significant differences were found regarding mechanical ventilation, admittance to neonatal intensive care unit, being in an incubator, no reaction to noise (as told by the parents), neurological conditions, encephalopathy, meningitis, medication use after being born and hearing impairment. Logistic regression models were developed. They included p value < 0.05. It was found that the most important factor for hearing impairment was reaction to noise (as told by parents) (OR=15), followed by medication use after being born (OR=3.06), admittance to neonatal intensive care unit (OR=2.49) and mechanical ventilation use (OR=2.29).

The aetiological diagnosis of recessive non-syndromic hearing loss poses a challenge owing to marked heterogeneity and the lack of identifying clinical features. The finding that up to 50% of recessive non-syndromal genetic hearing loss among Caucasians was due to mutations in GJB2, the gene encoding Connexin 26 (Cx26) was a breakthrough, whose value as a diagnostic tool has been limited by the significant variation in the prevalence of deafness genes and loci among population groups. The significant association of the GJB6-D13S1830 deletion among individuals with one mutant GJB2 allele highlighted the need to explore population specific genetic mutations for NSHL. Although data from Sub-Saharan Africa is limited, reported studies found a high prevalence of R143W GJB2 mutation among Ghanaian, the 35delG mutation in 5 out of 139 Sudanese and a low prevalence of GJB2 variations among 385 Kenyan deaf children. The mutation spectrum of Waardenburg Syndrome (WS) in Africans has not been documented. During a visit to a School for the Deaf in the Limpopo Province of South Africa in 1997, it was noted that a high number of students came from Nzhelele sub-district. All had childhood onset hearing loss with no associated anomalies or disorders. The question arose as to whether there was a high-risk area for deafness in the Limpopo Province and what the aetiology of this hearing loss was.The main aim of this study was to investigate the role of GJB2, the GJB6-D13S1830 deletion, and the four common mitochondrial mutations, A1555G, A3243G, A7511C and A7445G, in the African hearing-impaired population of Limpopo province in South Africa, and to identify the mutation spectrum of the deafness genes found. The type and degree of hearing loss in this hearing impaired population would also be assessed. Secondly, this study sought to identify the mutations in a sibling pair with 2 clinical WS and to use the findings in a future study to establish the mutation spectrum of WS in the African population of the Limpopo province and of South Africa in general. The study was designed as a two phase study, in which phase 1 was used for hypothesis formulation and phase 2 was for hypothesis testing. While phase 1 was a descriptive retrospective case study, phase 2 was a combination of sample survey and prospective descriptive case study. In phase 1, demographic data of 361 students in two schools of the deaf in the Limpopo province was analyzed for evidence of areas of high risk populations for deafness in the province. In phase 2, a group of 182 individuals with genetic non-syndromic hearing loss (NSHL) and two siblings with clinical WS from two schools for the Deaf in the Limpopo Province of South Africa were investigated. A thorough clinical examination, audiological evaluation and urinalysis were done. Mutational screening was carried out in all 184 subjects using genomic DNA using single-strand conformation polymorphism (SSCP), multiplex polymerase chain reaction (PCR), and direct sequencing for GJB2, and Restriction Fragment-Length Polymorphism (PCR–RFLP) analysis for GJB6, and SSCP, hetero-duplex analysis, and direct sequencing of the first 8 exons of PAX3 and all of MITF for Waarenburg syndrome. Data analysis was by geographical mapping, frequency tables, tests of association with calculation of odds ratios, and binary logistic regression analysis using STATA and GIS mapping systems. The results indicate that there seem to be areas of genuine populations at risk for hearing loss in the Limpopo province of South Africa, namely Mutale and parts of Makhado and Thulamela municipalities. In Thulamela (NP343) wards 11-15, 26-30 and 31-35, and in Mutale (NP 344) wards 6-10, together accounted for 67 (18%) of participants in phase 1, and 33 (18%) of the participants in phase 2 of the study. Mutale municipality in the Vhembe 3 district gave with a projected prevalence of at least 13.14 deaf children per 100,000 African population attending the local school for the deaf. The observed hearing loss is a genetic, non-syndromic form, which is mainly severe and severe to profound, although without any clear defining configuration or shape. It is a stable, non-progressive and prelingual form of hearing loss, implying that this may be a recessive form of deafness. No identifiable environmental confounding factors or associations were identified. The deafness is not linked the common known auditory gene mutations in GJB2, the GJB6-D13S1830 deletion, or the common mitochondrial mutations A1555G, A3243G, A7511C and A7445G. Severe and profound levels of hearing loss were found in 22.8% and 75% of the cohort respectively, with the majority exhibiting flat (70.1%) or sloping (23.4%) audiograms that were commonly symmetrical (81.5%). However, as indicated, there was no clear pattern in the audiological findings overall. None of the 184 hearing impaired individuals exhibited any of the reported disease causing mutations of GJB2, including 35delG. There was, however, a high prevalence of two variants, the C>T variant at position g.3318-15 and the C>T variant at position g.3318-34, occurring in 21.4% and 46.2% of the deaf cohort respectively. The same variants were found to occur in 35% and 42.6% of a normal hearing control group (n = 63) respectively, indicating that these variations are polymorphisms. In three subjects (1.63% of the cohort), a T>A homozygous variation at position g.3318-6 was detected. Its significance in the causation of NSSNHL is yet to be determined. The GJB6-D13S1830 deletion was not detected in any of the participants. None of the four mitochondrial mutations screened for were found. 4 These results indicate that GJB2 is not a significant deafness gene in the African population of the Limpopo Province of South Africa and that significant genes for non-syndromic recessive hearing loss in this population are yet to be found. The geographical clustering of deafness found in this study, combined with the lack of identifiable common associated clinical features among the subjects of this study (excluding the WS sibling pair), suggests that these subjects have a genetic recessive non-syndromal type of hearing loss. In the context of historical and cultural evidence of consanguinity in this population, a founder effect cannot be ruled out. A rare mutation, R223X, previously identified only once out of 470 WS patients, was identified in the PAX3 gene among the WS sibling pair. A novel silent change GGG>GGT at amino acid 293, was also identified. These identical findings document, for the first time, a molecular defect in WS in an African sibling pair, and confirm WS Type I in this family, which could be found in other WS type I South Africans in the Limpopo Province of South Africa. The current study demonstrated that parents of genetically hearing impaired children in these areas are able to detect hearing loss at an early age, with over 60% suspecting their children’s hearing loss below 6 months of age. A child-centered management model encompassing all the areas relevant to childhood deafness/hearing impairment, which takes into consideration the prevailing logistical and financial constraints of the available healthcare system, is proposed. The implementation of this model requires a paradigm shift from the current fragmented model of service delivery to a cohesive patient-centered approach, based on concrete data from appropriate community based research, in which all the relevant parties communicate and share resources. 5 It would achieve the goals of early detection and intervention, as well as inclusive education for all. The relevant health and education policies are already in place and the posts funded. Equitable implementation of these policies would require appropriate community based research, as well as improved communication and consultation between the various stakeholders to ensure an efficient and affordable quality healthcare service for all hearing impaired South Africans.