There has been little research into the impact of Juvenile Huntington's Disease (JHD) on the family, and the issues facing this group are poorly understood. The study reported here is part of larger project that aimed to address this. Ten semi-structured interviews with the main carer were carried out, and were analysed using Interpretative Phenomenological Analysis (IPA). This article reports three themes arising from the study relating to the psychosocial impact of JHD on the family: (1) dealing with something so different; (2) lack of understanding (3) isolation. This information is useful in developing appropriate services for families affected by JHD, as well as being of relevance to other childhood conditions.

There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews with the main caregiver(s) were carried out and were analyzed using the qualitative methodology interpretative phenomenological analysis. The main themes arising from the analysis are reported here: first becoming aware something is wrong; physical symptoms; speech and communication difficulties; behavioral problems; a slow but relentless process. These are discussed in relation to extant literature. We hope the article will be helpful to clinicians working with families where a child is affected by JHD and also contribute to the general literature on understanding symptoms in childhood illness.

There has been little research into the psychosocial impact of Juvenile Huntington's Disease on the child and family. This study investigates the social and health care needs of those affected by Juvenile Huntington's Disease. Ten semi-structured interviews with carers were analysed using the qualitative methodology interpretative phenomenological analysis. This article reports three themes on the social support that families received. The first theme describes how parents perceived the support that they received from family and friends. The second and third themes describe how parents perceived helpful and unhelpful experiences of professional support. This corresponds to the view that social support is a 'double-edged sword', which can both ameliorate the effects of, and be a source of, stress. This information should be useful to those supporting the family of a child with a chronic or terminal illness.

[346/ 350 words]Background and Objectives:Huntington’s Disease (HD) is a rare, inherited and highly complex neuro-degenerative disorder with no currently approved disease modifying treatments. We investigated the impact of HD on health-related quality of life (HRQoL) and other patient-reported outcomes in the Huntington’s Disease Burden of Illness (HDBOI) study.Methods:The HDBOI study is a retrospective, cross-sectional study conducted between September 2020 and May 2021 in France, Germany, Italy, Spain, the United Kingdom and the United States. People with symptomatic onset HD (PwHD) were recruited by their HD-treating physicians and categorized as early (ES), mid (MS) or advanced stage (AS) HD. Physicians provided sociodemographic and clinical information from the participant’s medical records in electronic case report forms (eCRF); participants or their proxies completed online Patient Public Involvement Engagement questionnaires (PPIE-P). Patient-reported outcomes included the EQ-5D-5L, SF-36 v2 (and SF-6D utility), Huntington Quality of Life Instrument (H-QoL-I), and the Work Productivity and Activity Impairment Specific Health Problem (WPAI-SHP). All outcomes were summarized using descriptive statistics, differences between disease stages were assessed by Kruskal-Wallis tests.Results:A total of 2,094 PwHD were enrolled with completed eCRFs (100%) and PPIE-P forms (n=482, 23%). Participants mean age was 47.3 years, they were generally evenly distributed across countries, with the majority being ES (40%) followed by MS (33%) and LS (26%). Mean EQ-5D-5L (n=336) utility scores was 0.59 (SD, 0.27), with the highest mean utility scores [SD] in ES (0.72 [0.22]) followed by MS (0.62 [0.18]) and AS (0.37 [0.30]), p<0.001. Mean SF-6D score (n=482) was 0.57 (SD, 0.10), with mean values decreasing with advanced disease (ES, 0.61; MS, 0.56; AS, 0.50, p<0.001). H-QoL-I mean scores (n=482) also worsened with more advanced disease, from 0.58 for ES to 0.49 for MS and 0.37 for AS, p<0.001. Impairment in daily activities and in work productivity. Overall proxy-respondents reported on average worse outcomes than PwHD (self-reported) across all outcomes and disease stages suggesting a possible unawareness of deficits by PwHD.Conclusion:The HDBOI study provides new insights into the characteristics and humanistic burden of PwHD, and offers a meaningful contribution to this underserved research area.