TY - JOUR
T1 - A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta
AU - Members of the BBDC
AU - Rork, W. Conor
AU - Hertz, Alyssa G.
AU - Wiese, Andrew D.
AU - Kostick, Kristin M.
AU - Nguyen, Dianne
AU - Schneider, Sophie C.
AU - Shepherd, Whitney S.
AU - Cho, Hannah
AU - Lee, Brendan
AU - Sutton, V. Reid
AU - Nagamani, Sandesh C.S.
AU - Rauch, Frank
AU - Glorieux, Francis
AU - Retrouvey, Jean Marc
AU - Lee, Janice
AU - Esposito, Paul
AU - Wallace, Maegen
AU - Bober, Michael
AU - Eyre, David
AU - Gomez, Danielle
AU - Harris, Gerald
AU - Hart, Tracy
AU - Jain, Mahim
AU - Krakow, Deborah
AU - Krischer, Jeffrey
AU - Orwoll, Eric
AU - Nicol, Lindsey
AU - Raggio, Cathleen
AU - Smith, Peter
AU - Tosi, Laura
AU - Murali, Chaya N.
AU - Lee, Brendan
AU - Sutton, V. Reid
AU - Storch, Eric A.
N1 - Publisher Copyright:
© 2023 Wiley Periodicals LLC.
PY - 2023/9
Y1 - 2023/9
N2 - Osteogenesis imperfecta (OI) is a pleiotropic, heritable connective tissue disorder associated with a wide range of health implications, including frequent bone fracture. While progress has been made to understand the spectrum of these physical health implications, the impact of OI on psychosocial well-being, as well as protective factors that buffer against adverse psychosocial outcomes, remain understudied. This present study relies on a qualitative approach to assess patient perspectives on both protective and adverse psychosocial factors specific to OI in 15 adults with varying disease status. Semi-structured interviews were conducted, subsequently coded, and themes extracted. Themes concerning psychosocial burdens (i.e., negative affective and behavioral impacts of disease status) and protective factors were identified from cooperatively-coded transcripts (two coders per transcript). Participants reported experiencing an increase in negative affect and disease-related distress after fracturing a bone and during recovery. Fear and concern specific to the uncertainty of future bone fractures and negative self-image was common. In contrast to these negative impacts, participants additionally described positive orientations toward their disease and attributed positive traits to their lived experience with a chronic disease. While limited due to small sample size and lack of ethno-racial diversity, findings highlight a need for continued research on the relationship between OI disease status and psychosocial outcomes, as well as the development of psychological interventions designed for OI populations. Findings have relevant clinical applications for healthcare providers working with those diagnosed with OI.
AB - Osteogenesis imperfecta (OI) is a pleiotropic, heritable connective tissue disorder associated with a wide range of health implications, including frequent bone fracture. While progress has been made to understand the spectrum of these physical health implications, the impact of OI on psychosocial well-being, as well as protective factors that buffer against adverse psychosocial outcomes, remain understudied. This present study relies on a qualitative approach to assess patient perspectives on both protective and adverse psychosocial factors specific to OI in 15 adults with varying disease status. Semi-structured interviews were conducted, subsequently coded, and themes extracted. Themes concerning psychosocial burdens (i.e., negative affective and behavioral impacts of disease status) and protective factors were identified from cooperatively-coded transcripts (two coders per transcript). Participants reported experiencing an increase in negative affect and disease-related distress after fracturing a bone and during recovery. Fear and concern specific to the uncertainty of future bone fractures and negative self-image was common. In contrast to these negative impacts, participants additionally described positive orientations toward their disease and attributed positive traits to their lived experience with a chronic disease. While limited due to small sample size and lack of ethno-racial diversity, findings highlight a need for continued research on the relationship between OI disease status and psychosocial outcomes, as well as the development of psychological interventions designed for OI populations. Findings have relevant clinical applications for healthcare providers working with those diagnosed with OI.
KW - anxiety
KW - brittle bone disease
KW - osteogenesis imperfecta
KW - pain
KW - patient perspectives
KW - treatment
UR - http://www.scopus.com/inward/record.url?scp=85161906730&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85161906730&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.63323
DO - 10.1002/ajmg.a.63323
M3 - Article
C2 - 37317786
AN - SCOPUS:85161906730
SN - 1552-4825
VL - 191
SP - 2267
EP - 2275
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 9
ER -