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

Brain Sciences
Mayke OosterlooRaymund A Roos

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.

References

Jul 1, 1986·Human Genetics·J G van DijkG W Bruyn
Sep 13, 2001·Mental Retardation and Developmental Disabilities Research Reviews·M A Nance, R H Myers
Feb 9, 2007·Journal of Child Health Care : for Professionals Working with Children in the Hospital and Community·Helen M BrewerOliver W J Quarrell
Dec 19, 2007·Journal of Health Psychology·Helen M BrewerOliver W J Quarrell
Feb 8, 2013·Neurology·Georgios KoutsisMarios Panas
Feb 28, 2013·European Journal of Human Genetics : EJHG·Virginia EatoughJonathan A Smith
Jan 15, 2014·Neurodegenerative Disease Management·Oliver W J QuarrellFerdinando Squitieri
Apr 13, 2017·Orphanet Journal of Rare Diseases·Yvonne ZurynskiUNKNOWN APSU Rare Diseases Impacts on Families Study group
Feb 23, 2019·Movement Disorders : Official Journal of the Movement Disorder Society·Oliver W J QuarrellUNKNOWN Juvenile Huntington Disease Working Group of the European Huntington Disease Network

❮ Previous
Next ❯

Citations

Sep 24, 2020·Brain Sciences·Peg C Nopoulos

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.