A03 Juvenile Huntington's disease. (29th August 2012)

• Record Type: Journal Article
• Authors: Quarrell, O
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 83(2012)Supplement 1
• Page Start: A1
• Page End: A1
• Publication Date: 2012-08-29
• Subjects: Juvenile HD -- proportion of cases -- cag repaet length -- duration of illness qualitative analysis; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp-2012-303524.3
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Juvenile Huntington's disease is defined as having an onset <20 years. Based on a meta analyisis of 11 post 1980 studies using multiple methods of ascertainment from high income countries (as defined by the World Bank), the proportion of JHD cases was 4.81%, 95% CI 3.31% to 6.58%. These patients are more likely to have bradykinesia and dystonia at an early stage of the illness. A review of the literature on CAG repeat lengths, duration of illness and pharmacological treatment in JHD will be presented. The results of in depth semi-structured interviews with 14 parents from 4 European countries studied using interpretative phenomenological analysis will be reported. Five main themes emerged: early signs of JHD; parental understanding of JHD; living with JHD; knowledge and understanding; and support. These results will be compared with a similar, previously reported study from the UK. The lecture will conclude with proposals for future activity and research.