Beyond chorea: a qualitative study of lived experiences in NKX2-1-related disorders

Abstract Mutations in the NKX2-1 gene cause a group of rare diseases characterised by choreiform movements at early stages along with endocrine and respiratory abnormalities. These manifestations significantly impact patients’ daily lives and quality of life. However, the full extent of functional limitations in daily living remains poorly understood. A qualitative study, employing a focus group and 5 individual interviews, was conducted to investigate the preferences, needs and daily impact of NKX2-1- related disorders among participants spanning caregivers of children and adolescents to adult patients across Europe and North America. Thematic analysis informed by selected principles of Grounded Theory such as constant comparison, was used. Participant narratives focused on diagnostic-related issues, daily life challenges (including movement limitations and urinary incontinence), psychological and psychosocial impact, communication with healthcare providers, and information needs. Additionally, a variety of strategies and tools are provided to help patients manage their daily lives with the disease. Using qualitative methods, this study explored aspects of the disease that patients find significant but might be overlooked by clinicians. This will inform future guidelines for more patient-centred care. The insights gathered in this study lead us to propose a developmental psychology-based approach to address mental health and well-being in rare diseases in future research and interventions. Furthermore, future research is encouraged to explore the efficacy of the identified support strategies, with the aim of integrating them into future care initiatives.