{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T14:53:34Z","timestamp":1793372014726,"version":"4.5.0"},"reference-count":19,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Early-onset Alzheimer\u2019s disease (EOAD) is an autosomal dominantly inherited disease, in which a founder effect has been described for A431E mutation in the PSEN1 gene, with most of the affected patients being residents of a small town in the state of Jalisco in Mexico. To date, no studies have been performed in order to know the impact of the disease on this population. Therefore, the objective of this study was to investigate the perceptions in the knowledge, the impact of the disease and the intention to take the predictive genetic testing in the population at genetic risk of Jalisco. For this objective, we performed a mixed study that included a qualitative methodology (semi-structured interviews), and, in addition, we measured suicidal ideation, stress and depression with quantitative instruments in order to compare them with a control group. Of the 28 invited individuals, 9 accepted to participate, from which, 5 (55.56%) participants did not know their genetic risk to develop the disease and 5 (55.56%) would want to take the predictive genetic testing in order to be prepared to face the disease; however, among those who did not want to know, 2 individuals (22.22%) mentioned that they would consider suicide if they were positive for the pathogenic variant. On the impact of the disease, we detected that the adaptation to the familiar\u2019s needs was the most frequent answer, including changes in their lifestyle (being responsible since very young, changes in social life and familiar dynamic), this being their main stressor, followed by changes in plans for the future and contemplating the possibility of being affected. Although no differences in stress and depression between groups were observed, we detected that suicidal ideation was significantly higher in the group of cases. These results highlight the importance to involve all the family in genetic counseling in order to clarify any doubts and also to attend to them psychologically to prevent suicidal ideation and attempts.<\/jats:p>","DOI":"10.3390\/brainsci13030501","type":"journal-article","created":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T02:59:26Z","timestamp":1679021966000},"page":"501","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer\u2019s Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study"],"prefix":"10.3390","volume":"13","author":[{"given":"Yesica Arlae","family":"Reyes-Dom\u00ednguez","sequence":"first","affiliation":[{"name":"Maestr\u00eda en Psicolog\u00eda de la Salud, Departamento de Psicolog\u00eda B\u00e1sica, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis E.","family":"Figuera","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente (CIBO), Instituto Mexicano del Seguro Social (IMSS), Guadalajara 44340, Jalisco, Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6455-3662","authenticated-orcid":false,"given":"Aniel Jessica Leticia","family":"Brambila-Tapia","sequence":"additional","affiliation":[{"name":"Departamento de Psicolog\u00eda B\u00e1sica, Centro Universitario de Ciencias de la Salud (CUCS), Universidad de Guadalajara, Guadalajara 44340, Jalisco, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Fung, T.Y., Iyaswamy, A., Sreenivasmurthy, S.G., Krishnamoorthi, S., Guan, X., Zhu, Z., Su, C., Liu, J., Kan, Y., and Zhang, Y. 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