A triagem auditiva neonatal universal - TANU - tem sido recomendada no Brasil e no exterior como o principal instrumento para assegurar, nos primeiros anos de vida, o diagnóstico da deficiência auditiva. Nessa medida, o objetivo do presente estudo foi identificar o grau de preocupação e conhecimento a respeito desse procedimento por parte dos familiares, visando contribuir para o planejamento de ações que viabilizem estratégias ainda mais eficazes de orientações fonoaudiológicas. Também foi possível observar o quanto os pais sabem a respeito da audição do bebê, o que pode levar à criação de maneiras mais acolhedoras de acompanhamento e atenção às necessidades reais da família durante o diagnóstico audiológico. Para a pesquisa, foram então selecionadas, inicialmente, 42 famílias, das quais restaram trinta e oito cujos bebês não haviam passado no teste e reteste da TANU, realizados na maternidade Santa Isabel - Bauru/SP, pelo projeto \"Modelo de Saúde Auditiva no Recém-nascido\". A coleta de dados e o registro foram realizados na Clínica de Audiologia Infantil do Departamento de Fonoaudiologia da FOB-USP, Bauru/SP, por meio da aplicação de um instrumento integralmente adaptado, tomando por base dois questionários: o Rhode Island Hearing Screen Program Questionnarie, aplicado em Rhode Island Hearing Assesment Program; e o questionário aplicado por HERGILS; HERGILS17, 2000 na University Hospital, Linköping-Suécia. Foram incluídas, ainda, seis questões pelos juízes que validaram o instrumento. Os resultados foram: houve um aumento significativo do grau de preocupação materna entre o teste e reteste da TANU (p = 0.002); a maior parte das participantes (50%) soube da TANU após a alta hospitalar, 34% durante a internação e 16% antes da internação hospitalar; 55% informaram que não sabiam qual profissional havia realizado a TANU; 100% declararam ser favoráveis ao programa de TANU, sendo que, destas, 53% mostraram-se insatisfeitas com as informações recebidas, tanto sobre os objetivos como sobre as conseqüências da avaliação. O presente estudo confirmou os resultados de outras pesquisas que ressaltam a importância dos programas de Saúde Auditiva no sentido de assegurar que as famílias compreendam a necessidade da TANU, bem como a continuação do diagnóstico audiológico e intervenção precoce, quando necessários. / The universal newborn hearing screening - UNHS - has been recommended in Brazil and other foreign countries as the main instrument to assure, in the first years of life, the diagnosis of the auditory deficiency. In this measure, the goal of the current study was to identify the worry and knowledge degrees concerning to this procedure regarding the familiar people, aiming to contribute for the planning of actions that make possible audiologist guidance strategies even more efficient. It was also possible to observe how much the parents know about the baby hearing, and what can be taken to create more welcoming ways of attendance and attention to the real necessities of the family during the audiologist diagnosis. For the research, 42 families were initially selected, for those 38 remained, whose babies did not pass in the UNHS test and retest, which were held at the Maternity Saint Isabel - Bauru/SP, for the project \"Auditory Health Model in the Newborn\". Data and registers collecting were carried through the Audiologist Infantile Clinic of the Therapy Speech-Audiologist Department at FOBUSP, Bauru/SP, over the application of an integrally adapted instrument, based on two questionnaires: the Rhode Island Hearing Screen Program Questionnaire, applied in Rhode Island Hearing Assessment Program; and the questionnaire applied for HERGILS; HERGILS17, 2000 in the University Hospital, Linköping-Sweden. Six questions were included by the judges that validated the instrument. The results showed a significant increase of the maternal concern degree between the UNHS test and retest (p = 0,002); most of the participants (50%) was informed about UNHS procedures after the hospital discharge, 34% during hospital admission and 16% before the hospital admission; 55% informed that they did not know the professional name that performed the UNHS procedures; 100% declared to be for to the UNHS program. From all participants, 53% confirmed unsatisfied with the received information, not only on the objectives but also on the consequences of the evaluation. The recent study confirmed the results of other researches that point out the importance of the Auditory Health programs in order to assure that the families understand the necessity of the UNHS procedures, as well as the continuation of the audiologist diagnosis and previous intervention, when necessary.

A triagem auditiva neonatal universal - TANU - tem sido recomendada no Brasil e no exterior como o principal instrumento para assegurar, nos primeiros anos de vida, o diagnóstico da deficiência auditiva. Nessa medida, o objetivo do presente estudo foi identificar o grau de preocupação e conhecimento a respeito desse procedimento por parte dos familiares, visando contribuir para o planejamento de ações que viabilizem estratégias ainda mais eficazes de orientações fonoaudiológicas. Também foi possível observar o quanto os pais sabem a respeito da audição do bebê, o que pode levar à criação de maneiras mais acolhedoras de acompanhamento e atenção às necessidades reais da família durante o diagnóstico audiológico. Para a pesquisa, foram então selecionadas, inicialmente, 42 famílias, das quais restaram trinta e oito cujos bebês não haviam passado no teste e reteste da TANU, realizados na maternidade Santa Isabel - Bauru/SP, pelo projeto \"Modelo de Saúde Auditiva no Recém-nascido\". A coleta de dados e o registro foram realizados na Clínica de Audiologia Infantil do Departamento de Fonoaudiologia da FOB-USP, Bauru/SP, por meio da aplicação de um instrumento integralmente adaptado, tomando por base dois questionários: o Rhode Island Hearing Screen Program Questionnarie, aplicado em Rhode Island Hearing Assesment Program; e o questionário aplicado por HERGILS; HERGILS17, 2000 na University Hospital, Linköping-Suécia. Foram incluídas, ainda, seis questões pelos juízes que validaram o instrumento. Os resultados foram: houve um aumento significativo do grau de preocupação materna entre o teste e reteste da TANU (p = 0.002); a maior parte das participantes (50%) soube da TANU após a alta hospitalar, 34% durante a internação e 16% antes da internação hospitalar; 55% informaram que não sabiam qual profissional havia realizado a TANU; 100% declararam ser favoráveis ao programa de TANU, sendo que, destas, 53% mostraram-se insatisfeitas com as informações recebidas, tanto sobre os objetivos como sobre as conseqüências da avaliação. O presente estudo confirmou os resultados de outras pesquisas que ressaltam a importância dos programas de Saúde Auditiva no sentido de assegurar que as famílias compreendam a necessidade da TANU, bem como a continuação do diagnóstico audiológico e intervenção precoce, quando necessários. / The universal newborn hearing screening - UNHS - has been recommended in Brazil and other foreign countries as the main instrument to assure, in the first years of life, the diagnosis of the auditory deficiency. In this measure, the goal of the current study was to identify the worry and knowledge degrees concerning to this procedure regarding the familiar people, aiming to contribute for the planning of actions that make possible audiologist guidance strategies even more efficient. It was also possible to observe how much the parents know about the baby hearing, and what can be taken to create more welcoming ways of attendance and attention to the real necessities of the family during the audiologist diagnosis. For the research, 42 families were initially selected, for those 38 remained, whose babies did not pass in the UNHS test and retest, which were held at the Maternity Saint Isabel - Bauru/SP, for the project \"Auditory Health Model in the Newborn\". Data and registers collecting were carried through the Audiologist Infantile Clinic of the Therapy Speech-Audiologist Department at FOBUSP, Bauru/SP, over the application of an integrally adapted instrument, based on two questionnaires: the Rhode Island Hearing Screen Program Questionnaire, applied in Rhode Island Hearing Assessment Program; and the questionnaire applied for HERGILS; HERGILS17, 2000 in the University Hospital, Linköping-Sweden. Six questions were included by the judges that validated the instrument. The results showed a significant increase of the maternal concern degree between the UNHS test and retest (p = 0,002); most of the participants (50%) was informed about UNHS procedures after the hospital discharge, 34% during hospital admission and 16% before the hospital admission; 55% informed that they did not know the professional name that performed the UNHS procedures; 100% declared to be for to the UNHS program. From all participants, 53% confirmed unsatisfied with the received information, not only on the objectives but also on the consequences of the evaluation. The recent study confirmed the results of other researches that point out the importance of the Auditory Health programs in order to assure that the families understand the necessity of the UNHS procedures, as well as the continuation of the audiologist diagnosis and previous intervention, when necessary.

No description available.

Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass spectrometry (MS/MS), making it possible to screen for 40–50 conditions using a single blood spot. The most recent additions to screening programmes (screening for cystic fibrosis, severe combined immunodeficiency and spinal muscular atrophy) were assisted by or realised through the introduction of molecular technologies. For this survey, we collected data from 51 European countries. We report the developments between 2010 and 2020 and highlight the achievements reached with the progress made in this period. We also identify areas where further progress can be made, mainly by exchanging knowledge and learning from experiences in neighbouring countries. Between 2010 and 2020, most NBS programmes in geographical Europe matured considerably, both in terms of methodology (modernised) and with regard to the panel of conditions screened (expanded). These developments indicate that more collaboration in Europe through European organisations is gaining momentum. We can only accomplish the timely detection of newborn infants potentially suffering from one of the many rare diseases and take appropriate action by working together.