Abstract
International guidelines on Huntington’s Disease recommend neurological examination in the predictive testing trajectory. Experiences and personal wishes of persons at risk of Huntington’s Disease regarding this topic have never been evaluated. The objective was to provide an overview of the experiences of Dutch at-risk persons, opting for predictive testing, in consulting a neurologist before and after DNA analysis. Persons who were counseled in four Dutch clinics between 2017 and 2019 were retrospectively or prospectively approached for a questionnaire which listed topics as experiences with consultation and personal wishes. From 71 participants, 44 participants visited a neurologist. 41 participants indicated their visit to a neurologist as positive (93.2%). The majority of participants (n = 59) desired consulting a neurologist. Thirty-two participants indicated consultation shortly after (Desired After Group) and twenty-seven before DNA analysis (Desired Before Group) as personal wish. The Desired Before Group consisted of a significantly higher number of participants who actually consulted a neurologist before predictive testing (n = 26) compared with the number of participants who actually consulted a neurologist after DNA analysis in the Desired After Group (n = 11) (p < 0.001). The Desired After Group (n = 19) had a significantly higher number of Huntington’s disease gene expansion carriers compared with the Desired Before Group (n = 5) (p 0.003). Participants are content with consultation. However, persons without the gene expansion still feel the need to get in touch with a neurologist. Therefore, offering a consultation with a neurologist before DNA analysis might be beneficial for all.
Highlights
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by involuntary movements, psychiatric disorders, and cognitive deterioration
The international guidelines of the Huntington Association and the World Federation of Neurology Research Group on Huntington’s chorea of 1994 and the revised version of 2013 posits that neurological examinations are considered important to establish a baseline evaluation of each person
Whilst more than one reason was given for being positive visiting a neurologist, 24 (58.5%) gave meeting the future treating neurologist as one of these, followed by the possibility to get informed about HD (n = 20; 48.9%)
Summary
Huntington’s disease (HD) is an autosomal dominant neurodegenerative disease characterized by involuntary movements, psychiatric disorders, and cognitive deterioration. Persons at risk are those from an HD family who do not know their genetic status. They have the availability to opt for predictive DNA testing. If predictive testing shows an expanded CAG repeat (>39), this person will develop HD in time (HD gene expansion carrier, HDGEC). A CAG repeat of 36 to 39 gives reduced penetrance which means that the clinical symptoms might not appear. The main reasons for persons at risk to get predictive testing are: prepare for the future, wanting to inform their children and family planning [3,4,5,6,7,8]
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