Quality of life in NF1

Abstract

Health-related quality of life (QoL) reflects a patient-centred view that is distinct from a medical diagnosis or a catalogue of signs and symptoms. It is influenced by, and in turn influences patients' clinical symptoms, familial and societal supports and life situation. QoL is a legitimate alternative to traditional clinical outcome measures of treatment efficacy and is central to assessments of general well-being. QoL is quantifiable by general measures of disease burden that profile physical, mental, and functional health and well-being as well as by instruments specific to certain manifestations such as skin findings or speech difficulties. Longitudinal measures of QoL can track changes over time. Scores on both generic and specific instruments tend to be lower in people of all ages with NF1 than in the general population. However, positive self-perceptions in both children and adults with NF1 have been observed and have been proposed to be a psychological compensatory mechanism. Continuing support and guidance as well as proactive interventions to minimize cosmetic and functional impacts of NF1 has potential for lifelong impact on QoL for the patient and his or her family.