Next Article in Journal
Pediatric Motor Inflammatory Neuropathy: The Role of Antiphospholipid Antibodies
Previous Article in Journal
The Role of Sartans in the Treatment of Stroke and Subarachnoid Hemorrhage: A Narrative Review of Preclinical and Clinical Studies
Previous Article in Special Issue
Therapeutic Advances for Huntington’s Disease
Open AccessArticle

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

1
Department of Neurology, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands
2
Department of Neurology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
3
Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
4
Department of Clinical Genetics, Maastricht University Medical Center, 6202 AZ Maastricht, The Netherlands
5
GROW Research Institute for Oncology and Developmental Biology, Maastricht University, 6200 MD Maastricht, The Netherlands
*
Author to whom correspondence should be addressed.
Brain Sci. 2020, 10(3), 155; https://doi.org/10.3390/brainsci10030155
Received: 6 February 2020 / Revised: 24 February 2020 / Accepted: 6 March 2020 / Published: 7 March 2020
(This article belongs to the Special Issue Early Onset Huntington’s Disease)
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. View Full-Text
Keywords: juvenile Huntington’s disease; pediatric Huntington’s disease; early-onset Huntington’s disease; personal experiences; caregivers juvenile Huntington’s disease; pediatric Huntington’s disease; early-onset Huntington’s disease; personal experiences; caregivers
Show Figures

Figure 1

MDPI and ACS Style

Oosterloo, M.; Bijlsma, E.K.; de Die-Smulders, C.; Roos, R.A.C. Diagnosing Juvenile Huntington’s Disease: An Explorative Study among Caregivers of Affected Children. Brain Sci. 2020, 10, 155.

Show more citation formats Show less citations formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Access Map by Country/Region

1
Back to TopTop