Development of quality of life (QoL) scales for patients affected by Niemann-Pick disease type C

Abstract

Background: Niemann Pick Disease Type C (NPC) is a rare inherited degenerative disorder, which characterises itself predominately in neurological deterioration and there is currently no cure. The age of onset and the progression of the disease varies. Individuals who present symptoms during childhood hold a more aggressive form of the disease and may not survive to adolescence. The aim of this study is to explore the impact of NPC on patients and develop and validate age-appropriate QoL scales. Methods: Ten carers were interviewed; 1 interview included a patient. Participants were recruited through the NPC charity and took part in a semi-structured interview based on key areas of QoL: six face-to-face and four over the telephone. The age of patients ranged from 3 to 56 years. Interviews were analysed using content analysis. Findings: Preliminary findings suggest NPC has physical, psychological, cognitive, social and environmental effects. All participants experienced physical decline, which affected mobility. This caused patients to become frustrated due to the impact this had on their life, especially in teenage and adult patients. The majority of participants who were school age had gone, or were in the process of going from mainstream to specialist school due to cognitive decline. Current stage of work: Continuing interviews and transcript analysis. Further examination will enable the extraction of relevant items for a prototype scale, firstly for children aged 0-11 years. Discussion: Results from the interviews will provide a holistic picture of life with NPC and provide a means of measuring QoL.