Sierra Ellsworth 

Health Related Quality of Life in Individuals Diagnosed with Juvenile-Onset Huntington’s Disease

Huntington’s Disease is a neurodegenerative disorder inherited through either a single parent or both parents. The disease is caused by a mutation of the CAG repeat in the huntingtin gene. Affected individuals usually have a repeat length of at least 60 and the age of onset tends to decrease as the length of the repeat increases. Huntington’s Disease typically has an onset between the ages of 30-45, or mid-life. A juvenile form, known as juvenile-onset, has an onset age under the age of 21 and is only present in approximately 7% of all diagnoses of Huntington’s Disease. The symptoms of juvenile-onset can vary slightly from those of adult-onset but follow the same pattern of progression. The first symptoms are usually behavioral disturbances and slight cognitive difficulties followed by the manifestation of physical difficulties, such as issues with walking or balancing. The objective of this study was to determine the effect of juvenile-onset Huntington’s Disease on an individual’s health related quality of life. This was done through a questionnaire with pediatric specific questions, as well as sections from the Unified Huntington’s Disease Rating Scale (UHDRS). Our research showed that the first symptoms were noticed by a parent in the home setting and were often seen as simple behavioral problems. These issues progressed into physical difficulties that made it hard for the individual to care for themselves, lowering their health related quality of life.