Prevalencia de personas sordas que cuentan con un intérprete profesional de Lengua de Señas Argentina en la consulta médica de sus hijos / Prevalence of deaf people who have a professional Argentine Sign Language interpreter during their children's medical consultations

Introducción. En Argentina, la discapacidad auditiva representa 18% de las discapacidades. La Lengua de Señas Argentina (LSA) es el sistema de comunicación de elección en personas sordas (PS). La incorrecta comunicación con el médico impide una adecuada asistencia. Las PS precisan a un intérprete profesional de LSA (IPLSA) durante la atención médica de sus hijos. La Ley Nacional 26378 establece ofrecer IPLSA para facilitar el acceso a instalaciones públicas. Sin embargo, la mayoría de las PS no cuentan con intérprete ni conocen este derecho. Objetivos. Describir la prevalencia de PS que cuentan con IPLSA en la consulta médica de sus hijos y que conocen su derecho a tener acceso gratuito a un IPLSA. Material y método. Estudio descriptivo, transversal, con encuesta estructurada autoadministrada. Se incluyeron PS que supieran LSA, con hijos entre 1 mes y 18 años. Variables de resultado: contar con IPLSA y conocer el derecho a tenerlo. Tamaño de muestra calculado: 220. Muestreo por conveniencia en la Ciudad de Buenos Aires y la provincia del Chaco. Se calculó prevalencia e intervalo de confianza del 95% (IC95%). Estudio aprobado y registrado. Resultados. Se analizaron 222 encuestas. Edad: 34,9 ± 10,1 años. El 15,3% (IC95%: 11,1-20,6) contaron con un IPLSA en alguna consulta de sus hijos. El 48,6% (IC95%: 42,1-55,1) conocía su derecho a contar con uno. Conclusión. La prevalencia de PS que han contado con un IPLSA en la consulta médica de sus hijos fue baja. Casi la mitad conocía su derecho de contar con un IPLSA.

Introduction. In Argentina, hearing disability accounts for 18% of disabilities. Argentine Sign Language (ASL) is the communication system of choice used by deaf people (DP). An incorrect communication with physicians hampers the adequate provision of health care. DP require a professional ASL interpreter (PASLI) in the context of health care provided to their children. National Act no. 26378 stipulates the provision of a PASLI to facilitate access to public facilities. However, most DP neither have an interpreter nor know this right. Objectives. To describe the prevalence of DP who have a PASLI present during their children's medical consultations and who know their right to access one at no charge. Material and method. Approved and registered, descriptive, cross-sectional study with a structured, self-administered survey. Participants: DP who knew ASL and had children aged 1 month to 18 years old. Outcome variables: to have a PASLI and to know the right to have one. Estimated sample size: 220. Convenience sampling selected from the Autonomous City of Buenos Aires and the province of Chaco. The prevalence and 95% confidence interval (95% CI) were estimated. Results. Two hundred and twenty-two surveys were analyzed. Age: 34.9 ± 10.1 years old. Among all participants, 15.3% (95% CI: 11.1-20.6) sometimes had a PASLI during their children's medical consultations. Also, 48.6% (95% CI: 42.155.1) knew their right to have one. Conclusion. The prevalence of DP who had a PASLI present during their children's medical consultations was low. Less than a half knew their right to have one.

Juvenile Huntington disease in Argentina / Doença de Huntington juvenil na Argentina

ABSTRACT We analyzed demographic, clinical and genetic characteristics of juvenile Huntington disease (JHD) and it frequency in an Argentinean cohort. Age at onset was defined as the age at which behavioral, cognitive, psychiatric or motor abnormalities suggestive of JHD were first reported. Clinical and genetic data were similar to other international series, however, in this context we identified the highest JHD frequency reported so far (19.72%; 14/71). Age at onset of JHD is challenging and still under discussion. Our findings reinforce the hypothesis that clinical manifestations, other than the typical movement disorder, may anticipate age at onset of even many years. Analyses of JHD cohorts are required to explore it frequency in populations with different backgrounds to avoid an underestimation of this rare phenotype. Moreover, data from selected populations may open new pathways in therapeutic approaches and may explain new potential correlations between HD presentations and environmental or biological factors.

RESUMO Foram analisadas as características demográficas, clínicas e genéticas de doença de Huntington juvenil (JHD) e na freqüência em uma coorte argentino. A idade de início foi definida como a idade em que distúrbios comportamentais, cognitivos, psiquiátricos ou anormalidades motoras sugestivas de JHD foram relatada pela primeira vez. Os dados clínicos e genéticos foram semelhantes aos de outras séries internacionais, no entanto, neste contexto identificamos a maior freqüência de JHD relatados até agora (19,72%; 14/71). A idade de início de JHD é um desafio ainda em discussão. Nossos resultados reforçam a hipótese de que as manifestações clínicas, além do transtorno de movimento típico, pode antecipar a idade de início em muitos anos. As análises de coortes de JHD são obrigados a explorar frequências em populações com diferentes formações, para evitar uma subestimação deste fenótipo raro. Além disso, os dados de populações selecionadas podem abrir novos caminhos em abordagens terapêuticas e pode explicar novas correlações potenciais entre apresentações de HD e fatores ambientais ou biológicas.