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(DZNE) in der Helmholtz-Gemeinschaft"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Friedreich\u2019s ataxia (FA) is a rare, autosomal recessive neurodegenerative disease that primarily affects children and adolescents in their transition to adulthood, which is associated with several adverse life events caused by the disease progression. This article aims to describe life events associated with FA and their impact on patient-reported outcomes in pediatric and adult onsets. A newly adapted Life Events Questionnaire was applied within the PROFA study. The questionnaire captured various disease-, relationship-, and work-related life events. The outcomes were stratified by pediatric and adult-onset groups at subcategory and item levels. Non-parametric tests, along with multivariate regressions with adjustments were employed. A total of 73 patients (44 pediatric-\/29 adult-onset) completed the Life Events Questionnaire. Both pediatric and adult onset groups reported a similar number of life events (M\n                    <jats:sub>events<\/jats:sub>\n                    = 5.3), with disease-related events being the most prevalent. Item-level analyses revealed that adult-onset had a higher likelihood in identifying life events, including positive life events, compared to pediatric-onset group. Regression analyses revealedassociations between increased disability and increased adverse life events particularly relationship-related adverse life events(IRR\n                    <jats:sub>assist<\/jats:sub>\n                    = 2.044,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.05; IRR\n                    <jats:sub>non\u2212ambulant<\/jats:sub>\n                    = 2.589,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.01), as well as moderating effect of age at onset specifically for non-ambulant patients (IRR\u2009=\u20090.061,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.01). The pediatric onset group were more prone to relationship-related adverse life events, especially in non-ambulant stage. In contrast, with adult-onset may benefit from established social identity in which their partners play a supportive role. Psychosocial support should be offered preemptively at the start of diagnosis for example concurrently with genetic counseling. The findings suggests that disease management strategies should be tailored to different age groups.\n                  <\/jats:p>","DOI":"10.1007\/s12311-026-02038-7","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T05:09:05Z","timestamp":1782191345000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives"],"prefix":"10.1007","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6400-507X","authenticated-orcid":false,"given":"Audrey","family":"Iskandar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maresa","family":"Buchholz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Sarwinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Borel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Durr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Atencio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Ewenczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Heinzmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sacha","family":"Weber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania","family":"Hilab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany","family":"Humphries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klockgether","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Grobe-Einsler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Feldmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phan","family":"Rouillon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Nadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elin Haf","family":"Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Minnerop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Friedrich","family":"Erdlenbruch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almut T.","family":"Bischoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Klopstock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia","family":"Fleszar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Indelicato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg B.","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathrin","family":"Reetz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Michalowsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,23]]},"reference":[{"key":"2038_CR1","unstructured":"Williams CT, De Jesus O. 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Approval was granted by Ethikkommission der Universit\u00e4tsmedizin Greifswald (Greifswald), Ethik-Kommission an der Medizinischen Fakult\u00e4t der RWTH Aachen (Aachen), Ethikkommission der Medizinischen Fakult\u00e4t Bonn, Ethik-Kommission an der Medizinischen Fakult\u00e4t der Eberhard-Karls-Universit\u00e4t und am Universit\u00e4tsklinikum T\u00fcbingen (T\u00fcbingen), Ethikkommission der Medizinischen Universit\u00e4t Innsbruck (Innsbruck), Ethikkommission bei der LMU M\u00fcnchen (Munich), Neuroscience, Ethics and Society (NES) is an initiative of Institut du Cerveau - ICM (Paris).","order":1,"name":"Ethics","label":"Ethics Approval","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All individual adult participants (aged 18 years and older) included in the study provided informed consent. For pediatric patients (under 18 years old), written informed consent was obtained from the parents or legal guardians.","order":2,"name":"Ethics","label":"Informed Consent","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"96"}}