A Study on the Impact of Disease in Patients With Spinal Muscular Atrophy: Perspectives of Patients and Their Families in Northwest China

OBJECTIVES: The healthcare sector and the public are not well aware of spinal muscular atrophy (SMA), which may affect the management of SMA under the construction of medical insurance system. This study investigated the impact of SMA on patients and their families in Shaanxi Province, China.

METHODS: SMA patients and their family members in Shaanxi Province were invited to be recruited to conduct a mixed-methods cross-sectional study, which consisted of filling out questionnaires and in-depth interviews. The results of the questionnaire were recorded and later analyzed for data analysis, and the in-depth interview process took the audio recording, which was then transcribed into text for thematic analysis.

RESULTS: After the diagnosis of the patient family members showed changes in low mood, vulnerability to depression and breakdowns, poorer sleep quality, limited personal development planning, more family conflicts and less socialization. Analysis of the questionnaire data revealed a significant correlation between the predominance of the mental burden of the interviewed caregivers and whether or not they were the patient's primary caregiver, they were caring full-time, and income of the patient's family. Patient family perceptions of the health care system included themes such as low reimbursement rates, cumbersome health care reimbursement processes, low awareness of the disease among government workers, and gratitude for China's health care-related policies.

CONCLUSIONS: Through this study, the main reason for these effects of SMA disease is the difficulty of diagnosis and treatment of SMA patients, because most of the patients and their families are willing to accept the treatment under medical insurance system, but due to the earlier the SMA is treated, the better the clinical outcome will be. Therefore, we suggest that the publicity and clinical diagnosis of SMA disease should be improved in Northwest China.