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• W4294052013 abstract "Huntington's disease (HD) is a neurodegenerative and hereditary disorder. Due to the predictive diagnosis, incipient clinical characteristics have been described in the prodromal phase. Several studies have reported an increase in psychiatric symptoms in carriers of the HD gene without motor symptoms. To identify psychological distress in carriers of the mutation that causes HD, without motor symptoms, utilizing the Symptom Checklist 90 (SCL-90), and to correlate with the burden and proximity of the disease. A sample of 175 participants in a HD Predictive Diagnostic Program (PDP-HD) was divided into HEP carriers (39.4%) and NPEH non-carriers (61.6%) of the HD-causing mutation. By means of mathematical formulas, the disease burden and proximity to the manifest stage in the PEH group were obtained and it was correlated with the results of the SCL-90-R. Comparing the results obtained in the SCL-90-R of the PEH and NPEH, the difference is observed in the positive somatic male index, where the PEH obtains higher average scores. The correlations between disease burden and psychological distress occur in the domains; obsessions and compulsions, interpersonal sensitivity, hostility, global severity index and positive somatic distress index. A low correlation is observed between the burden of disease and the scores obtained in psychological discomfort. In general, we found that the PEH group obtained a higher score in the dimensions evaluated with the SCL-90-R, showing a relationship with the burden and differences due to the proximity of the disease. Higher scores on the SCL-90-R dimensions in carriers of the HD gene may suggest an early finding of psychological symptoms in the disease. La enfermedad de Huntington (EH) es un trastorno neurodegenerativo y hereditario, a partir del diagnóstico predictivo se han descrito características clínicas incipientes en la fase prodrómica, varios estudios han reportado aumento de síntomas psiquiátricos en portadores de la mutación causante de la EH, sin síntomas motores, en esta fase. Identificar malestar psicológico en portadores de la mutación causante de la EH sin síntomas motores, mediante el SCL-90, y correlacionar con la carga y cercanía de la enfermedad. Una muestra de 175 participantes de un Programa de Diagnóstico Predictivo de EH (PDP-EH) se dividió en portadores PEH (39.4%) y no portadores NPEH (61.6%) de la mutación causante de EH. Mediante fórmulas matemáticas se obtuvo la carga de enfermedad y cercanía a la etapa manifiesta en el grupo PEH y se correlacionó con los resultados de inventario SCL-90-R. Al comparar los resultados obtenidos en el SCL-90-R de los PEH y NPEH, la diferencia se observa en el índice de malestar por síntomas positivos, donde los portadores obtienen mayor puntuación promedio. Las correlaciones entre carga de enfermedad y síntomas psicológicos se dan en los dominios; obsesiones y compulsiones, sensibilidad interpersonal, hostilidad, índice de severidad global e índice de malestar somático positivo. Se observa una correlación baja entre la carga de enfermedad y las puntuaciones obtenidas en el malestar psicológico. En general encontramos que el grupo PEH obtiene puntaje mayor en las dimensiones evaluadas con el SCL-90, muestran relación con la carga y diferencias por la cercanía de la enfermedad. Puntajes mayores en las dimensiones del SCL-90-R en portadores del gen para la EH pueden sugerir un hallazgo temprano de la sintomatología psicológica en la enfermedad." @default.
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• W4294052013 date "2022-09-01" @default.
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• W4294052013 title "Psychological discomfort in carriers and non-carriers of the Huntington disease mutation and its relationship with disease burden" @default.
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• W4294052013 doi "https://doi.org/10.1016/j.nrleng.2022.06.005" @default.
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