Important but not Enough – Information about HD Related Topics and Peer and Professional Support for Young Adults from HD Families

Abstract

Background: The number of people affected by Huntington’s disease (HD) is far greater than those with manifest HD because it also includes those at risk, both HD gene mutation carriers and family members not carrying the HD mutation. Many relevant needs of young adults from HD families may not be met at present. This includes advice on important life decisions e.g. family planning and having children, psychological support and treatment of medical conditions.

Objective: To survey the opinion of young adults from HD families about relevance and availability of information and support regarding several aspects of HD.

Methods: An online anonymous questionnaire translated into ten languages contained questions regarding the importance and availability of information and support about HD related topics, and attitudes towards research. Answers were captured in categories or on Likert scales.

Results: Information about HD related topics and the availability of peer and professional support are very important for young adults from HD families. In addition, with the exception of general information about HD, or predictive testing, the vast majority of respondents stated that they did not receive enough information on other important topics, for instance regarding legal advice and they did not feel supported enough by healthcare professionals. HD research was considered to be of high value, though most did not participate in HD research.

Conclusion: The results of this survey can help devise a strategy to address these unmet needs and also to facilitate research participation of more young adults from HD families.

Keywords

Genetic counselling life-style legal advice research participation care

INTRODUCTION

The prevalence of manifest Huntington’s disease (HD), an inherited neurodegenerative mixed movement disorder with dementia and behavioural abnormalities, is about 1/10.000 in the Western world [1]. HD is caused by a mutation in the HD gene, now called HTT, where a CAG trinucleotide repeat is mutated so that the HTT gene contains more than about 35 repeat units [1]. Given HD’s autosomal dominant mode of inheritance and its mean age at onset of clinically diagnosable disease in about the fourth or fifth decade of life [1] the number of people who are at risk of HD is far greater than the number of people exhibiting the overt signs and symptoms of manifest HD. The clinical features of HD clearly affect the individuals who have manifest HD. In addition, HD also impacts others in the family: individuals whose genetic status is unknown, premanifest gene mutation carriers and gene-negative relatives. It is therefore now recognized that HD impacts the whole family [2]. The overt symptoms of HD typically manifest after the child-bearing years, and the HTT CAG mutations that cause onset very early or very late in life are relatively rare (less than 10% in Europeans). Therefore, most of the at risk and premanifest individuals are young adults or children [3].

In HD, much effort has been expended upon addressing the specific needs of those who are clinically affected. However, many other relevant aspects, specifically those involving young adults and children from HD families who do not have manifest HD, may be under-recognised and under-covered. Important amongst these may be: resources focusing on important life decisions (i.e.: family planning and having children), specific psychological support, accurate information related to existing treatments and scientific developments. In fact, offering accurate information, support and treatment that is tailored to the needs of young adults may be expected to significantly contribute to improving their coping strategies and quality of life. However, at this time, little is known about the exact needs of young people impacted by HD. Filling this knowledge gap is important in order to improve the guidelines and standards of care dedicated to young people from HD families.

The main aim of the present study was therefore to gather knowledge about the kind of information and support this group needs. To this end we conducted a survey about 1) how important young adults from HD families judge the information on a number of HD related topics to be to them; 2) whether they judge these topics to be covered currently; and 3) how the availability, or lack of availability, of information and support on these topics may influence the participants’ perception on their life and happiness

MATERIAL AND METHODS

Questionnaire and participants

The questionnaire was designed using SurveyMonkey (www.surveymonkey.com). The content was developed in consultation with the European Huntington’s Disease Network’s Young Adult Working Group (http://www.euro-hd.net/html/network/groups/youth[groups/youth]). The questionnaire contained four parts. The first part captured general information: relation to HD (at risk; predictive testing: carrying/not carrying the HD gene mutation); country of origin; age (less than 20; 20–30; 30–40; above 40); sex; who had HD in family; education and employment; income (< € 20,000; € 20–40,000; € 40–60,000; > € 60,000); thinking about life on the whole on a Likert scale from 0 (worst) to 10 (best); and feeling yesterday (happy; contented; angry; anxious or sad). The second part was dedicated to the importance and availability of information about specific HD related topics (what is HD; being at risk; legal advice; predictive testing; what happens after the predictive test; lifestyle advice; having children; how to talk to children about HD; how to be a carer; growing up in a family with HD; relationships). The third part captured data on the importance and availability of support in several areas (peer support; online support; professional support in HD clinics, by a psychologist, predictive testing, advice on life decisions, treatment of medical conditions). The fourth part asked opinions about research (see the full questionnaire as supplementary data). The questionnaire was translated into ten languages by native speakers of the respective language who were also familiar with HD (English, German, Spanish, Italian, French, Norwegian, Swedish, Danish, Dutch, and Polish). The link to the questionnaire was posted on the webpages of the European Huntington’s Disease Network (www.euro-hd.net), the Huntington’s Disease Youth Organisation (www.hdyo.org) and PREDICT-HD (www.predict-hd.net/). The questionnaire was completed anonymously, and no data was collected that could identify participants.

We analysed 683 completed questionnaires of young adults from HD families from 35 countries worldwide (see Table 1). Questionnaires were evaluated if participants stated they were at risk of HD, premanifest HD gene mutation carriers or had been at risk but did not carry the HD mutation. Questionnaires from people with manifest HD were not considered.

Statistical analysis

From the questionnaire we used the information about the relation to HD, country of origin, age, gender, income, feeling of life on the whole, feeling yesterday and questions about the need of information and support regarding different HD topics e.g. legal advice, predictive testing, lifestyle advice (see Supplementary material). Age, income, feeling yesterday and the needs of young adults from HD families were captured in the questionnaire as categorical variables. The feeling of life on the whole was captured on an 11-point Likert scale. We classified the available countries into 7 geographic regions (see Table 1). Most of the participants came from Central Europe.

In a first step descriptive analyses consisted of frequency calculations for answers to each of the questions. In a second step multiple regression analyses were conducted to evaluate which factors influenced whether information and support were available and which factors influenced the feeling about life. Relation to HD, age group, gender, income, region, happiness, availability of information and support were used as covariates. P < 0.05 was considered to be significant. For the target variable ‘feeling of life’ a linear regression and for the target variables ‘sufficient information’ and ‘sufficient support’ a logistic regression were performed. The descriptive analyses were conducted using the software SPSS 22 and Excel. Linear and logistic regression analysis, respectively, were conducted using R (version 3.2.1.) [4] and SAS (version 9.3) [SAS Institute Inc., Cary, NC, USA], respectively.

RESULTS

Data from 683 completed questionnaires from 35 countries all over the world were included in our study. The characteristics of the study population are reported in Table 2. Regarding categories with the highest frequency, the typical participant of the survey was at risk for HD, between 20 and 29 years old, female, earned less than € 20,000, lived in Central Europe and was contented with life.

In a first step we evaluated the view of young adults about the importance and the need for information and support, respectively, regarding several aspects of HD like e.g. predictive testing, having children or dealing with HD concerning relationships (see Fig. 1(A-D)). Information and support for all topics were considered important (see Fig. 1C). More than 50% of participants felt they had enough information about the topics ‘what is HD?’, ‘being at risk’ and ‘predictive testing’ (see Fig. 1B). ‘Legal advice’ was the topic where participants felt the greatest lack of information. Separated by region, between 75% (Northern Europe) and 90% (South Europe) of the participants said they did not have enough information about legal advice. In ascending order: Northern Europe (75%), Eastern Europe (78%), Central Europe and South America (80%), English-speaking Europe (82%), English-speaking world (88%) and Southern Europe (90%). With respect to support, throughout all the topics that were addressed in the survey only 13.2% of participants stated that they had enough support while 86.8% said they had no or not enough support (Fig. 1D). In a second step we conducted logistic regression analyses to examine if some groups of participants were more likely to have more or less information or support. Participants at risk for HD felt significantly less well supported compared to the HD gene mutation positive group (OR = 0.5, p = 0.03, Table 3). Furthermore, HD gene negative group felt significantly more supported compared to participants at risk for HD (OR = 2.9, p = 0.005). As a tendency, the older participants were the more likely they felt sufficiently informed and supported. Participants with an income of € 20,000 – € 40,000 felt less well supported compared to participants with an income below € 20,000 (OR = 0.4, p = 0.02). Furthermore, there was a tendency that the better they felt they were informed the happier participants were with their life as a whole (OR = 1.1, p = 0.06) or supported (OR = 1.2, p = 0.02). Sex or region did not show a significant effect on having sufficient information or support.

In a third step using linear regression analysis we evaluated the impact of several factors (e.g. having enough information or support) on participants‘ feeling of life as a whole (see Table 4). Having enough support or information had no significant effect on happiness. HD gene negative participants were on average 0.5 points (p = 0.04) happier compared to HD gene positive participants. Age or sex had no major effect on happiness. Participants with an income between € 20,000 and € 40,000 and participants with an income between € 40,000 and € 60,000, respectively, were about 0.6 points (p = 0.006), or 0.8 points (p = 0.009), happier than participants with an income below € 20,000. In participants with an income above € 60,000 there was no further increase of happiness. Likewise, geographic origin had a relevant and significant influence on happiness. Participants from South America and Southern Europe, respectively, were 1.3 points (p = 0.001), or 0.6 points (p = 0.008), happier than participants from Central Europe. In contrast, participants from Eastern Europe were 1 point (p = 0.006) less happy than participants from Central Europe. How people felt yesterday had the greatest impact on the valuation of the feeling of life as a whole. Participants who had been angry yesterday had minus 4 points (p < 0.001), which is the worst feeling of life in comparison to participants who had been happy yesterday. Participants who had been anxious or sad yesterday rated their feeling of life as a whole 3 points (p < 0.001) worse than participants who had been happy yesterday. The difference in yesterday‘s mood between contented and happy regarding the rating of the feeling of life was just 1 point (p < 0.001) in favour of happiness.

Almost all participants thought that research was important, and about 70% had an interest in taking part in research (Table 5). However, only a third stated that they knew how to take part, and only about 20% were already taking part in research. Bivariate analysis shows that among people who have adequate access to information and among people with no sufficient access a similar percentage (20%) are involved in research (p = 0.926). Bivariate analysis further revealed that among people who are being involved in research 20% feel sufficiently supported. In contrast, among people who are not being involved in research only 11.6% feel sufficiently supported. In addition, a chi-quadrat test shows a significant association between being involved in research and having sufficient support (p = 0.031).

DISCUSSION

The results of this survey indicate that information about HD related topics and the availability of peer and professional support are very important for young adults from HD families. However, with the exception of general information about HD, or predictive testing, the vast majority of respondents stated that they did not have enough information and support, for instance regarding legal advice or professional support. The results of this survey can help devise a strategy to address these unmet needs. The high valuation of research yet low participation suggests that this could also help recruit more young adults from HD families into research.

We evaluated the view of young adults about the relevance and availability of information and support, respectively, regarding several aspects of HD e.g. predictive testing, having children or dealing with HD concerning relationships. Information and support, both by peers and by health care professionals, are clearly important in dealing with a devastating inherited disorder like HD that affects the whole family. The results of this survey therefore come as no surprise since they clearly document that all the topics that were covered were deemed important. The majority of participants felt that they had enough information about what HD is. There are many sources of information about the cause of HD, the main clinical manifestations and the course the disease runs. It is therefore maybe expected that the majority of participants said that they had enough information. The survey did not investigate the sources and quality of that information. The same may be true for predictive testing for which the majority of respondents also said that they had enough information. The results of the survey do therefore not necessarily mean that there is no need to invest into high quality information material about HD, its inheritance or predictive testing.

On the topics lifestyle and legal advice participants felt they had too little information and support. Lifestyle encompasses, for instance, exercise, diet and how to deal with day-to-day stress. However, it is difficult to provide clear guidelines, or general advice, for questions of lifestyle. Such advice may have to be tailored to the individual seeking advice. Moreover, the evidence from research studies is equivocal. In laboratory mice created to have the HD mutation, there is some evidence demonstrating that survival is improved by simple environmental enrichment, for example having activities and toys to play with [5]. In cardiovascular disease, diet for example, has been shown to be an important consideration [6]. However, HD clinical trials have not shown significant effects of coenzyme Q10, a mitochondrial anti-oxidant, or ethylEPA, an omega-3 fatty acid, on clinical manifestations of HD [7, 8]. Exercise may have beneficial effects [9], however, it could be dose dependent [10]. Similarly, it is also difficult to provide clear guidelines for legal advice, since legal systems differ between countries. Therefore, any information and advice has to be given in the context of the respective legal system. This underlines the need for local, country specific initiatives to provide such information as far as it can be generalised. However, a case by case approach that requires personal contact e.g with a lawyer may often be warranted to fully appreciate the complexities of legal issues.

We next assessed the availability of information and support in HD subgroups. This revealed that participants at risk felt overall less well supported than those who had either tested HD gene mutation positive or negative. It is likely that participants who know their gene status underwent predictive genetic testing in the context of which they were counselled according to international guidelines and therefore informed and supported in different ways [11]. Older participants also felt better informed and supported maybe because they had more access to various sources of information over their lifetime. Interestingly, the availability of information and support had no effect on participants’ ratings of their happiness. HD gene mutation negative participants were happier than HD gene positive participants as expected, but the difference was small. Age or sex had no relevant effect on happiness, but participants from Latin America and Southern Europe rated themselves happier than participants from Central or Eastern Europe, and those with higher income stated they were happier than those with lower income, all of which is in keeping with the World Happiness Report 2015 [12]. Other factors may also influence happiness, and the survey does not measure them. This would be an interesting question to pursue in further research.

In summary, the results of this survey highlight the need for information and support for young people from HD families. This includes online but also local in person peer and professional support. The evidence suggesting that professional support could be improved points to a need for training of health care professionals who see young people from HD families. One possibility would be the involvement of young people from HD families, for instance a local representative, to raise awareness of the kind of topics for which professional support is needed. Recently, web based information in lay language on a number of topics relevant to HD has become available through the Huntington’s Disease Youth Organisation (HDYO; www.hdyo.org), and there are websites offering information about predictive testing (e.g. www.predictivetestingforhd.com). While these websites are very welcome and, at least some of them, are available in different languages they require online access. Therefore, young people from HD families without online access do not benefit. In addition, online information is no substitute for but rather complements local personal peer and professional support. This is supported by our data indicating that both online and peer support are deemed very important. Peer support may be even more relevant for some regions such as Latin America where online access is patchier. Because this survey was conducted online it probably does not capture any difference between respondents from different regions. Moreover, there is some risk of malicious contamination of the data (e.g. gene status cannot be verified). This is a limitation. Participants had to have the means to know about the survey and to access the internet to take it. Even though internet coverage has certainly spread in recent years there may be young people in HD families without access to the internet, with disabilities, or not connected to existing online HD communities especially in under resourced remote areas for example in countries like Colombia or Venezuela [13]. It is possible that this survey covers the opinions of rather better connected HD family youth and is not representative of the majority of young people in HD families. Compared with reported predictive testing uptake rates of about 20% [14] the uptake rate amongst participants in this survey seems much higher. This is further evidence for a potential ascertainment bias. Despite these shortcomings, the fact that the results already clearly illustrate the gaps in information and support suggests that those gaps are likely underestimated. Closing those gaps may help improve quality of life of young people from HD families. Given that the attitude towards research was very positive yet research participation fairly low an improved offer of information and, in light of our results, in particular professional support e.g. in HD clinics may also increase participation in research and thus facilitate the hunt for better treatments for HD. Online information in lay language about results of ongoing research (www.HDBuzz.net) is an important step in this direction. There is hope that the treatment of those with HD will improve in the near future. The ultimate goal is to develop disease-modifying treatments that prevent HD from manifesting in someone carrying the mutated gene. A number of promising but still untested approaches to lower levels of mutant huntingtin are being explored [15]. Inevitably, the clinical trials of the future will have to involve healthy individuals carrying the HD gene mutation. There is therefore an increasing interest/need to study this population of individuals including the development of novel tools for clinical assessment in these future trials. In this context, the PREDICT-HD and TRACK-HD studies have resulted in valuable insights [16, 17]. A clinical service that offered information, support and appropriate treatment advice might help attract that group to potentially taking part in the research necessary to prepare for the future clinical trials in preHD that aim to prevent HD from manifesting.

CONFLICT OF INTEREST

The authors have no conflict of interest to report.

Footnotes

ACKNOWLEDGMENTS

We thank all anonymous participants for their time and effort, the members of the European Huntington’s Disease Network’s Young Adults working group for many helpful discussions and David Drain, specialist youth advisor of the Scottish Huntington’s Association, for his helpful comments on the manuscript.

Appendix

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