Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience.

purposeRing 14 Syndrome is a rare genetic disorder caused by an anomaly in the 14th chromosome that often leads to intractable epilepsy, moderate to severe intellectual disabilities, slow growth, ocular abnormalities, and more. The presentation and severity of symptoms can greatly vary, making Ring 14 syndrome a complex condition to understand, manage, and treat. Conceptual disease models, also known as disease concept models, provide a formal framework based on the lived experience of patients and families that helps to describe the functional and quality of life impacts of a disease across various domains using qualitative methods.

methodsTo inform the development of a conceptual disease model on Ring 14 Syndrome, 17 caregivers representing 12 patients with Ring 14 Syndrome participated in semi-structured interviews over the course of four months. Data were analyzed using a mix of deductive and inductive inquiry through NVivo Software. Concepts were grouped into domains of patient symptoms and caregiver symptoms, with patient symptoms consisting of two sub-domains: functional impacts (which included cognitive impacts, physical impacts, behavioral impacts, and social-emotional-expressive impacts) and quality of life impacts (which included ADLs, medication side effects, and school/social/community). Caregiver impacts were categorized by mental health, family and social aspects, and medical care.

resultsPatient impacts listed under the cognitive and physical categories align closely with patient impacts referenced in the medical literature. However, impacts listed under the patient quality of life domain as well as the caregiver domain are inadequately represented in the literature, suggesting that the patient perspective has previously been neglected in the medical literature on Ring 14 Syndrome. Further, the numerous mental and physical health impacts on caregivers, grouped with the negative quality of life impacts on Ring 14 patients themselves, warrants further attention, as both have profound effects on health-related quality of life. Finally, while many of the impacts listed in the conceptual disease model may be considered negative aspects of the disorder, there were also positive impacts identified (such as happy demeanor, resilience, and social support) by the community as well.