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Its cerebral form presents as a learning and behavioral disorder that, if untreated, leads to rapid neurological regression, disability, and death within 10 years of diagnosis. Therefore, the disease significantly impacts patients\u2019 quality of life, making quality of life assessment crucial for effective medical treatment and care. However, no disease-specific quality of life scale exists for ALD. Therefore, we conducted qualitative research to determine the experiences of patients and their families as a preliminary step toward developing one.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Four mothers of patients with cerebral ALD were interviewed. Based on classification using the qualitative content analysis method, the verbatim transcripts were grouped into four themes: support needs for patients, support needs for families, the impact of treatment, and challenges within support systems.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Support for patients and family members is required after ALD is diagnosed. In addition to addressing symptoms, daily life support and caregiving burden should be considered. Furthermore, several challenges and opportunities exist for improving treatment and support systems. Therefore, combining appropriate supporters and support systems according to the progressive and hereditary characteristics of ALD is crucial.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03424-2","type":"journal-article","created":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T10:02:42Z","timestamp":1730109762000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4314-4955","authenticated-orcid":false,"given":"Yuta","family":"Koto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nozomi","family":"Hadano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,10,28]]},"reference":[{"key":"3424_CR1","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1038\/nrendo.2016.90","volume":"12","author":"S Kemp","year":"2016","unstructured":"Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M. <ArticleTitle Language=\u201cEn\u201d>Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history. 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Written informed consent was obtained from all participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Participants were informed in writing that the data would be processed in a manner that individual information could not be identified, and the data would be published in an article or presented at a conference. Their consent was obtained in writing.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"YK received research grants and honoraria from Takeda Pharmaceutical Company, Ltd. NS received research grants and honoraria for lectures from Takeda Pharmaceutical Company, Ltd. NH declares no conflict of interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"401"}}