Affiliations: [a] 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
| [c] Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA
| [d] Department of Neurology, Ulm University, Germany
Correspondence to: Michael Orth, M.D., Ph.D., Department of Neurology, Ulm University Hospital, Oberer
Eselsberg 45/1, 89081 Ulm, Germany. Tel.: +49 731 50063095; Fax: +49 731 50063082;
E-mail: [email protected].
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