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. 2020 Mar 7;10(3):155.
doi: 10.3390/brainsci10030155.

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

Mayke Oosterloo  1   2 , Emilia K Bijlsma  3 , Christine de Die-Smulders  4   5 , Raymund A C Roos  2
Affiliations

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

Mayke Oosterloo et al. Brain Sci. .

Abstract

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.

Keywords: caregivers; early-onset Huntington’s disease; juvenile Huntington’s disease; pediatric Huntington’s disease; personal experiences.

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Conflict of interest statement

Raymund Roos is an advisor for Uniqure, and received a grant for clinical trial from TEVA. The other authors declare they have no conflict of interest concerning the research related to this manuscript.

Figures

Figure 1
Figure 1
Diagnostic process timeline. † = death.
See this image and copyright information in PMC

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