Date
1-16-2025
Department
School of Health Sciences
Degree
Doctor of Philosophy in Health Sciences (PhD)
Chair
Joseph Francis
Keywords
Joint manifestations, RASopathies, quality of life, qualitative phenomenological design, activities of daily living
Disciplines
Medicine and Health Sciences
Recommended Citation
Dobrea, Lavinia, "Exploring Joint Manifestations in RASopathies: A Prospective Survey" (2025). Doctoral Dissertations and Projects. 6460.
https://digitalcommons.liberty.edu/doctoral/6460
Abstract
RASopathies, a group of genetic diseases, affects approximately 1 in 1000 people worldwide. Despite advances documented in medical journals, there is limited understanding about the impact of various joint problems on activities of daily living (ADL) and quality of life (QOL) among those afflicted. This study was conducted, utilizing a qualitative phenomenological methodology, to better understand the lived experiences of people with RASopathies impacted by joint problems. Participants were selected from RASopathy communities by employing purposeful sampling to ensure population representation. Data was obtained through online surveys and virtual interviews. Thematic analysis was used to identify recurring themes, and data triangulation provided research validity and reliability. Overall, participants reported difficulties with ADLs due to chronic joint pain and impairment, prompting low levels of social engagement and loneliness. Diagnostic and access problems were also common, with adults waiting longer for proper diagnosis while children were diagnosed sooner based on genetic testing but not related to their joint manifestations. Participants recommended a variety of personalized approaches to care management. Results also indicated that social and emotional support would be beneficial for both the individual and their family. The study’s findings highlight the deep impact of joint issues on RASopathies patients and emphasize the need for: 1) a validated screening tool to determine joint problems in RASopathy patients, 2) improved access to specialized care and, 3) more personalized approaches to care management. The study also offers the unique perspectives regarding the broader management of RASopathies related to family and community, calling on policy change in professional medical and counseling services and a need for global collaboration to optimize patient outcomes and support networks comprehensively.
