Promoção da saúde em famílias com paramiloidose: papéis dos mais velhos junto dos mais novos / Health promotion in families with paramyloidosis: the role of elders with younger family members / Promoción de la salud en familias con paramiloidosis: papeles de los más viejos junto a los más jóvenes

Resumo: Atualmente os cidadãos são parceiros dos sistemas formais na promoção da saúde. Na gestão das doenças hereditárias, o papel dos familiares como fonte de suporte é vital. O papel dos mais velhos emerge como crucial pela longa relação com a doença e com os doentes na família. Contudo, esse papel permanece pouco explorado, em particular, em doenças genéticas, como a paramiloidose. Este estudo qualitativo exploratório analisa o papel dos mais velhos, em famílias com paramiloidose, na promoção da saúde dos mais novos. Adotou-se a técnica dos incidentes críticos, aplicada por entrevista semiestruturada. O estudo envolve 18 participantes que relataram 76 incidentes críticos. As entrevistas foram gravadas e submetidas a análise de conteúdo. Os principais resultados sugerem os seguintes papéis dos mais velhos junto dos mais novos: modelar (comportamentos), encorajar, informar e apoiar. As gerações mais velhas podem ser envolvidas pelos profissionais de saúde como parceiras no apoio aos mais novos em famílias com paramiloidose.

Abstract: Citizens are now partners in the formal health promotion system. In the management of hereditary diseases, the role of family members is a vital source of support. Elders play a crucial role due to their long relationship with the disease and with patients in the family. However, this role has still been insufficiently explored, particularly in genetic disorders like paramyloidosis. This exploratory qualitative study analyzes the role of elders in families with paramyloidosis, in health promotion for younger members. The critical incidents technique was applied using a semi-structured interview. The study involved 18 participants who reported 76 critical incidents. The interviews were taped and submitted to content analysis. The principal results suggest the following roles for elders with younger family members: act as role models (in behaviors), encourage, inform, and support. The older generations can be mobilized by health professionals as partners to support younger generations in families with paramyloidosis.

Resumen: Actualmente, los ciudadanos son agentes activos en los sistemas formales en la promoción de la salud. En la gestión de las enfermedades hereditarias, el papel de los familiares como fuente de apoyo es vital. El papel de los más viejos emerge como crucial por la larga relación con la enfermedad y con los enfermos en la familia. No obstante, este papel permanece poco explorado, en particular, en enfermedades genéticas, como la paramiloidosis. Este estudio cualitativo exploratorio analiza el papel de los más viejos, en familias con paramiloidosis, en la promoción de la salud de los más jóvenes. Se adoptó la técnica de los incidentes críticos, aplicada por entrevista semiestructurada. El estudio involucró a 18 participantes que relataron 76 incidentes críticos. Las entrevistas fueron grabadas y sometidas a un análisis de contenido. Los principales resultados sugieren los siguientes papeles de los más viejos, junto a los más jóvenes: modelar (comportamientos), animar, informar y apoyar. Las generaciones más viejas pueden estar involucradas por los profesionales de salud como agentes activos en el apoyo a los más jóvenes en familias con paramiloidosis.

Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's Disease, Machado-Joseph Disease, Machado-Joseph disease, and familial amyloid polyneuropathy

Objective: To study anxiety as a variable of the mid- and long-term psychological impact of pre-symptomatic testing for three autosomal dominant late-onset disorders – Huntington’s disease (HD), Machado-Joseph disease (MJD) and familial amyloid polyneuropathy (FAP) TTR V30M – in a Portuguese sample. Methods: This cross-sectional study included 203 participants: 170 (83.7%) underwent pre-symptomatic testing for FAP, 29 (14.3%) for HD, and 4 (2%) for MJD. Of the 203 participants, 73 (36.0%) were asymptomatic carriers, 29 (14.5%) were symptomatic carriers, 9 (4.5%) were diagnosed with FAP and had a liver transplant, and 89 (44.5%) were non-carriers. Most were women (58.1%) and married (66.5%). The anxiety variable was assessed using the Zung Self-Rating Anxiety Scale (SAS). Results: The anxiety scores were higher for symptomatic carriers and for those who underwent psychological support consultations over the years. For symptomatic carriers, the mean scores were superior to 40 points, which reflects clinical anxiety. Conclusion: Although it was not possible to differentiate between the mid- and long-term psychological impacts, this study supports the conclusion that the proximity to the age of symptoms onset might be a trigger for anxiety.