A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives

Abstract

Background Spinal Muscular Atrophy (SMA) is a rare, recessively inherited neuromuscular disorder that causes progressive muscle weakness. There is a low degree of awareness about SMA amongst the public and healthcare providers, which may impact the perception of the disease and its proper management. To understand how this lack of awareness may have affected diagnosis, care and support for SMA patients and their caregivers, this study aims to investigate the impact of SMA on the lives and daily activities of SMA patients and their caregivers in Malaysia. Methods Nationwide recruitment was carried out via invitations coordinated by a local SMA advocacy organization. A mixed method cross-sectional study consisting of a self-administered questionnaire followed by in-depth interviews (IDIs) and focus group discussions (FGDs) was conducted. The interview sessions were audio-taped, and verbatim transcripts analyzed thematically. Results Participants reported feeling stressed, anxious and depressed. There were issues with delayed diagnosis, lack of information from healthcare professionals about the disease progression, and limited access to supportive services like physiotherapy. Participants expressed their concerns living with self-doubt and turmoil with having to modify their lifestyles, relationships with family and friends, and challenges with educational and career opportunities. Various themes of their hopes for the future touched on having access to treatment, clinical trials, holistic care for symptom management, as well as improving infrastructure for disability access. Conclusion This study, to the best of our knowledge represents the first comprehensive study on SMA in South East Asia, highlights a plethora of issues and challenges experienced by persons with spinal muscular atrophy (PWSMA) and their caregivers in Malaysia, from the point of SMA diagnosis and throughout the management of care, in addition to the deep psychosocial impact of living with SMA. The significant findings of this study may contribute to a better understanding among stakeholders to make improvements in clinical practice, the education system, the work environment as well as holistic care support and society at large.

Analysis of scores of Symptom Checklist 90 (SCL-90) questionnaire of 182 parents of children with spinal muscular atrophy: a cross-sectional study

“…It can control or delay the onset of SMA, which can reduce parenting pressure and promote parents' psychiatric symptoms. In our current study, we for the first time found that the lack of rehabilitation management was a relevant factor for increased anxiety in SMA parents, which is the first finding compared with previous similar studies (10,20,22,23), suggesting that rehabilitation management in SMA children can relieve or prevent anxiety in SMA parents.…”

“…Mothers of long-term home-living SMA patients in the Netherlands (n=48) frequently reported disturbed sleep, and the Hospital Anxiety and Depression Scale indicated that the incidence rates of depression and anxiety were 35% and 42%, respectively (20). In Malaysia, 83% (n=24) of caregivers of SMA patients complained of stress, anxiety, and depression (23). In our current study, we compared the SCL-90 scores of 182 parents in 27 provinces with the 2018 national norms in China (17) and found that the scores of depression, anxiety, and sleep and eating problems were higher than those of the general population, which was consistent with previous studies (10,20,22,23).…”

“…In Malaysia, 83% (n=24) of caregivers of SMA patients complained of stress, anxiety, and depression (23). In our current study, we compared the SCL-90 scores of 182 parents in 27 provinces with the 2018 national norms in China (17) and found that the scores of depression, anxiety, and sleep and eating problems were higher than those of the general population, which was consistent with previous studies (10,20,22,23). However, the results also showed that the somatization and fear scores of the SCL-90 scale were also higher than those of the general population, which has not been reported in previous studies (10,20,22,23).…”

Understanding Challenges of Genetic Testing on Neuromuscular Disorders from the Parental Lens

“…Examples of neuromuscular disorders include amyotrophic lateral sclerosis (ALS), multiple sclerosis, myasthenia gravis, myopathy, myositis, and peripheral neuropathy [10]. Currently, the most prevalent neuromuscular diseases in Malaysia are Charcot-Marie-Tooth (CMT) disease (1 in 2500 live births), followed by DMD (1 in 3500 to 6000 live male births) and spinal muscular atrophy (SMA) (1 in 20,000 live births), which manifest during infancy and adolescence [9,[11][12][13][14].…”