Braisch Ulrike, Martinez-Horta Saul, MacDonald Marcy, Orth Michael
Institute of Epidemiology and Medical Biometry, Ulm University, Germany.
Biomedical Research Institute Sant Pau (IIB-Sant Pau). Movement Disorders Group. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
J Huntingtons Dis. 2016 Dec 15;5(4):379-387. doi: 10.3233/JHD-160218.
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.
To survey the opinion of young adults from HD families about relevance and availability of information and support regarding several aspects of HD.
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.
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.
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.
受亨廷顿舞蹈症（HD）影响的人数远多于患有明显HD症状的人数，因为这还包括有患病风险的人，即HD基因突变携带者以及未携带HD突变的家庭成员。目前，HD家庭中许多年轻成年人的相关需求可能无法得到满足。这包括关于重要人生决策的建议，例如计划生育和生育、心理支持以及疾病治疗。
调查HD家庭中年轻成年人对HD几个方面信息和支持的相关性及可获得性的看法。
一份翻译成十种语言的在线匿名问卷包含了关于HD相关主题信息和支持的重要性及可获得性的问题，以及对研究的态度。答案通过分类或李克特量表收集。
HD相关主题的信息以及同伴和专业支持的可获得性对HD家庭中的年轻成年人非常重要。此外，除了关于HD的一般信息或预测性检测外，绝大多数受访者表示他们在其他重要主题上没有得到足够的信息，例如法律建议，并且他们觉得医疗保健专业人员提供的支持不够。HD研究被认为具有很高的价值，尽管大多数人没有参与HD研究。
这项调查的结果有助于制定一项策略，以满足这些未得到满足的需求，并促进更多HD家庭中的年轻成年人参与研究。
