Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana / Congenital sensorineural deafness X-linked, with inner ear malformation in a Mexican family

Introducción. Las sorderas o hipoacusias prelinguales son de etiología genética entre el 60 y el 68% de los casos; de estos, del 20 al 40% son malformaciones del oído interno. De los casos de hipoacusia no sindrómica ligada al X se han descrito siete tipos. De las malformaciones de oído interno, la partición coclear incompleta tipo III es la menos frecuente.Objetivo. Presentar el reporte clínico-genético de una familia mexicana, con indi-viduos varones afectados por sordera neurosensorial congénita con malformación de oído interno. Material y Métodos. Se realizó estudio de una familia en la que nueve miembros presentaban sordera. Se estudiaron cuatro de ellos y una madre sin manifestaciones, a través del estudio clínico general por médico genetista, el estudio audiológico (otos-copía y audiometría) por médico audiólogo y el estudio de tomografía computada (TC) por médico radiólogo.Resultados. Los pacientes estudiados presentaron sordera neurosensorial congéni-ta, de severa a profunda bilateral. A través de la TC, se evidenció malformación de oído interno. Tres pacientes presentaron partición coclear incompleta tipo III y un paciente partición incompleta tipo I. Debido al estudio clínico y al árbol genealógico, se definió diagnóstico de hipoacusia neurosensorial no sindrómica ligada al X. La TC de la madre sin manifestaciones no presentó evidencia de malformaciones en oído interno (MOI).Conclusión. El estudio de imagen es fundamental para definir presencia o no de MOI en todos los pacientes con hipoacusia y así poder guiar la terapéutica y el aseso-ramiento genético, así como realizar los estudios moleculares más adecuados

Introduction. The pre-lingual deafness or hearing loss are of genetic cause in be-tween 60% and 68% of cases, among these, between 20% and 40% are malforma-tion of the inner ear. From the non-syndromic hearing loss cases that are linked to the X chromosome, seven types have been described. Among these inner ear malforma-tions, incomplete cochlear partition type III is the less frequent.Objective. Present the clinical genetical report of a Mexican family, with male in-dividuals affected by congenital neurosensory deafness with inner ear malformation.Materials and methodology. A study on a family in which nine members were affected by deafness was done. Four of them, plus a mother without manifestation, were studied through a general clinical study by a geneticist, an audiological study (otoscopy and audiometry) by an audiologist, and a computed tomography (CT) scan by a radiologist.Results. The studied patients presented congenital neurosensory deafness, from se-vere to deep bilateral. Via the CT, the inner ear malformation was made clear. Three of the patients presented incomplete cochlear partition type III and one patient in-complete cochlear partition type I. Due to the clinical study and the family tree, it was diagnosed non-syndromic neurosensory deafness linked to X. The CT of the mother without manifestation did not show evidence of inner ear malformations.Conclusion. The study by image is fundamental to define whether there is or not a presence of inner ear malformations in any patient with heading loss to be able to guide the therapeutics and the genetic counseling, as well as to make more accurate molecular studies

Protocolo clínico para Serviços de Saúde Auditiva na atenção a adultos e idosos / Clinical protocol for Hearing Health Services for the care of adults and elderly

RESUMO Objetivo Desenvolver um protocolo clínico para o atendimento ao paciente no processo de seleção, verificação e validação das próteses auditivas e estabelecer a representação gráfica do protocolo por meio de um fluxograma com algoritmos. Método Foi realizado um estudo bibliográfico para levantamento dos procedimentos necessários na elaboração de protocolos clínicos em saúde e quanto aos principais procedimentos em cada etapa do processo de seleção e adaptação de próteses auditivas. Posteriormente, foi realizada a elaboração por extenso do protocolo, que passou pela avaliação de oito fonoaudiólogos quanto ao conteúdo e aplicabilidade. Houve a adequação dos fatores levantados pelos profissionais e elaboração do documento final, além da constituição de um fluxograma com algoritmos do processo. Resultados: O protocolo foi desenvolvido após extenso levantamento de literatura; todos os fonoaudiólogos participantes referiram ser de grande valia a utilização do instrumento em sua prática clínica; e, ao final, houve a constituição do fluxograma com algoritmos, realizada após a elaboração do protocolo por extenso, originando o Procedimento Operacional Padrão no processo de seleção e adaptação de próteses auditivas. Conclusão O protocolo clínico para o atendimento ao paciente no processo de seleção, verificação e validação do uso das próteses auditivas foi desenvolvido e validado por meio de sua aplicação por profissionais, o que gerou, posteriormente, a representação gráfica do protocolo e suas etapas por meio de um fluxograma com algoritmos.

ABSTRACT Purpose To develop a clinical protocol for patient care in the selection, verification, and validation process of hearing aids; to verify the viability of the protocol during its use by specialists in the field; to establish the graphical representation of the protocol by means of a flowchart with algorithms. Methods We conducted a literature review to collect the procedures required for developing clinical protocols in healthcare services and the main procedures at each step along the process of fitting hearing aids. Subsequently, we developed the protocol, which was evaluated by eight audiologists in terms of its content and ease of use. We considered the issues raised by the professionals and then drew up a final document, as well as a flowchart with process algorithms. Results A protocol after having conducted an extensive survey of the literature was developed; all audiologists reported that the use of the instrument was of great value in their clinical practice; finally, we created the flowchart with algorithms after having developed the protocol and, by extension, we also created the Standard Operational Procedure for the selection, verification and validation process of hearing aids. Conclusion The clinical protocol for the care of patients in the selection, verification and validation process of hearing aids was developed and validated by means of its use by professionals. The information and data we collected allowed a graphical representation of the protocol and its steps as a flowchart with algorithms.

Parámetros de programación del implante coclear / Parameter fitting for cochlear implant

Resumen: La programación de un paciente con implante coclear resulta un proceso inicialmente estandarizado, pero que debe individualizarse para cada caso. En la mayoría de las ocasiones, dicho proceso implica el establecimiento de parámetros comunes. Sin embargo, existe un porcentaje de usuarios en los que por alguna circunstancia no es posible establecer niveles adecuados de estimulación, por lo que el médico audiólogo tiene que realizar ajustes en parámetros especiales, como cambio de estrategia, tasa de estimulación, ancho de pulso, entre otros, con el fin de obtener un desempeño auditivo de acuerdo a lo esperado.

Abstract: Programming a patient with cochlear impant follows a standardized and individualized protocol, although there is a percentage of users in which, for some reason, it is not possible to establish appropriate levels of stimulation. In these patients, the audiologist has to make adjustments in some special parameters such as a change in the strategy, stimulation rate, pulse width, among others, in order to obtain an auditory performance as expected.

Infant hearing screening from a developing country context: status from two South African provinces

Background: New-born hearing screening (NHS) programmes are an important step toward early detection of hearing loss and require careful examination and planning within each context. The Health Professions Council of South Africa (HPCSA) has recommended specific contexts in which to actualise early hearing detection and intervention (EHDI) application. It is imperative therefore to explore if and how the current experience measures up to these recommendations.Objective: to explore the feasibility of and the current status of the implementation of NHS at various levels of health care within the South African context.Methods: A non-experimental, descriptive, cross-sectional survey research design was employed, using a combination of questionnaires and face-to-face semi-structured interviews. Participants comprised 30 primary health care (PHC) nursing managers across two provinces (Gauteng and North West) and 24 speech-language therapists and/or audiologists directly involved with NHS in secondary and tertiary levels of care within Gauteng.Results: Current findings indicated lack of formal, standardised, and systematic EHDI implementation at all three levels of health care (primary, secondary and tertiary) with valuable reasons such as insufficient knowledge, lack of equipment, budgetary constraints, and human resource challenges being provided for this. Regardless of the level of care and their varied resource allocations and levels of specialisation; EHDI implementation as advocated by the HPCSA (2007) position statement currently does not seem feasible, unless the number of barriers identified are addressed, and NHS becomes mandated.Conclusion: Current findings have highlighted the need for ensuring that context specific studies in EHDI are conducted to ensure that national position statements are sensitive to contextual challenges and therefore allow for evidence-based practice, particularly in developing countries where resource constraints dictate success and/or failure of any well-intentioned programme