Yu-Juan Zheng,1 Yong-Chao Hou,2 Hua Zhao,3 Xiao-Yun Wang,4 Yu-Dan Liu,3 Li Li,5 Liang Yu,6 Ming-Mei Guo1 

1Department of Cardiology, Shanxi Provincial People’s Hospital, Taiyuan, 030012, People’s Republic of China; 2Department of Emergency, Shanxi Provincial People’s Hospital, Taiyuan, 030012, People’s Republic of China; 3College of Nursing, Shanxi University of Chinese Medicine, Jinzhong, 030619, People’s Republic of China; 4Department of Endocrinology, Shanxi Provincial People’s Hospital, Taiyuan, 030012, People’s Republic of China; 5Department of Gynecology, Shanxi Provincial People’s Hospital, Taiyuan, 030012, People’s Republic of China; 6Neonatal Disease Screening Center, Shanxi Provincial Children’s Hospital, Taiyuan, 030013, People’s Republic of China

Correspondence: Ming-Mei Guo, Department of Cardiology, Shanxi Provincial People’s Hospital, No. 29 Shuangtasi Street, Yingze District, Taiyuan, 030012, People’s Republic of China, Tel +86 13934533989, Email guomingmeigmm@126.com

Objective: To conduct an in-depth exploration of the factors influencing unfulfilled needs in caregivers of patients with phenylketonuria.
Methods: A rapid qualitative analysis approach was used to conduct semi-structured interviews with 16 caregivers of patients with phenylketonuria undergoing specialized dietary interventions, along with 5 medical professionals, within a designated phenylketonuria diagnosis and treatment center in Shanxi Province. Interview data were systematically organized, analyzed, and thematically extracted.
Results: Four primary themes were extracted: self-imposed constraints (including insufficient caregiver engagement, economic limitations, and stigma); interpersonal constraints (encompassing social isolation, inadequate social support networks, and lack of doctor-patient interactions); structural limitation factors (inadequate provision of specialized professional support systems, lack of medical dietary supplements, and deficiencies in national policies); and experiential limitation factors (encompassing sensory perceptions of medical dietary supplements and insufficient continuity in psycho-emotional care).
Conclusion: The unfulfilled needs of caregivers of patients with phenylketonuria primarily manifest across four dimensions. Greater emphasis on addressing these needs is warranted, necessitating increased attention to patients with phenylketonuria and their caregivers. Specifically, the focus should be directed toward addressing their emotional requirements, along with proactive development of the medical service infrastructure. Such measures are imperative for reducing unfulfilled needs among caregivers of patients and enhancing their prognosis.

Keywords: caregivers, influencing factors, phenylketonuria, qualitative research, rare diseases, unmet needs