Diagnosing Juvenile Huntington's Disease: An Explorative Study among Caregivers of Affected Children

Mayke Oosterloo*, Emilia K. Bijlsma, Christine de Die-Smulders, Raymund A. C. Roos

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


Objective: To investigate the reasons for the diagnostic delay of juvenile Huntington's disease patients in the Netherlands. Methods: This study uses interpretative phenomenological analysis. Eligible participants were parents and caregivers of juvenile Huntington's 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's 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's delay is acceptable or even useful.

Original languageEnglish
Article number155
Number of pages12
JournalBrain Sciences
Issue number3
Publication statusPublished - Mar 2020


  • juvenile Huntington's disease
  • pediatric Huntington's disease
  • early-onset Huntington's disease
  • personal experiences
  • caregivers


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