{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:32:44Z","timestamp":1790767964663,"version":"4.1.0"},"reference-count":18,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,7]],"date-time":"2020-03-07T00:00:00Z","timestamp":1583539200000},"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>Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington\u2019s disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis. Eligible participants were parents and caregivers of juvenile Huntington\u2019s disease patients. Results: Eight parents were interviewed, who consulted up to four health care professionals. The diagnostic process lasted three to ten years. Parents believe that careful listening and follow-up would have improved the diagnostic process. Although they believe an earlier diagnosis would have benefited their child\u2019s wellbeing, they felt they would not have been able to cope with more grief at that time. Conclusion: The delay in diagnosis is caused by the lack of knowledge among health care professionals on the one hand, and the resistance of the parent on the other. For professionals, the advice is to personalize their advice in which a conscious doctor\u2019s delay is acceptable or even useful.<\/jats:p>","DOI":"10.3390\/brainsci10030155","type":"journal-article","created":{"date-parts":[[2020,3,9]],"date-time":"2020-03-09T05:37:34Z","timestamp":1583732254000},"page":"155","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Diagnosing Juvenile Huntington\u2019s Disease: An Explorative Study among Caregivers of Affected Children"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0732-4406","authenticated-orcid":false,"given":"Mayke","family":"Oosterloo","sequence":"first","affiliation":[{"name":"Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands"},{"name":"Department of Neurology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia K.","family":"Bijlsma","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"de Die-Smulders","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands"},{"name":"GROW Research Institute for Oncology and Developmental Biology, Maastricht University, 6200 MD Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymund A. C.","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"The Huntington\u2032s Disease Collaborative Research Group (1993). A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington\u2032s disease chromosomes. Cell, 72, 971\u2013983.","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1007\/BF00401235","article-title":"Juvenile Huntington disease","volume":"73","author":"Roos","year":"1986","journal-title":"Hum. 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