Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study

Abstract

Background Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a cross-sectional study conducted in China. Methods We recruited 101 children aged 0–17 years with SMA and their caregivers from a children’s hospital in China. Twenty-six children had type I SMA, 56 type II and 19 type III. Each child’s QoL was measured by the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL NMM), which was completed by the child’s caregivers. The caregiver’s QoL was measured by the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM). Information on sociodemographic characteristics, disease-specific characteristics, and treatments were collected using the proxy-reported questionnaire. Two-sample t tests and one-way ANOVA were used to compare differences in average scores of QoL across subgroups. Results Children with type III SMA had a higher average Total score of PedsQL NMM and higher average scores in domains Neuromuscular disease and Family resources than children with type I or type II SMA (p < 0.001). Caregivers of children with type III SMA reported higher average scores in the domains of Physical, Emotional, Social, and Cognitive functioning of the PedsQL FIM than those of children with types I or II SMA (p < 0.05). In addition, disease-related characteristics (e.g. limited mobility, stable course of disease, skeleton deformity, and digestive system dysfunction) and respiratory support were associated with lower average scores of PedsQL NMM and PedsQL FIM (p < 0.05). Exercise training, multidisciplinary team management and use of the medication Nusinersen were each associated with higher average scores in both PedsQL NMM and FIM (p < 0.05). Conclusion Our study has demonstrated factors that may impair or improve QoL of children patients with SMA and their parents. Particularly, QoL was relatively poor in children with type I and type II SMA as well as in their caregivers compared to those with type III SMA. We strongly recommend that standard of care in a multidisciplinary team be strengthened to improve the QoL of SMA patients. Our study called for increased attention from clinical physicians on measuring QoL in their clinical practices in order to enhance the understanding of impacts of SMA and to make better decisions regarding treatment.

Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs

“…Spinal surgery was associated with improved parental quality of life and family impact ( p < 0.03; 0 for worst and 100 for best score). Yao et al [ 40 ] China Cross-sectional study, self-report online March 2020, clinic N = 101 Sex: NR Age: NR Family Status: NR Employment: NR Comparison groups: subtypes, medical intervention N = 101 Sex: 51.5% female Age: M = 7.2 (range = 0.5–16.2) SMA type: I = 26%, II = 55%, III = 19% Medication: nusinersen = 9% Comparison groups: subtypes, medical intervention Quality of life (PedsQL™ Family Impact Module, FIM) Quality of life : Parents of children and adolescents with type III reported higher average scores in domains of physical, emotional, social, and cognitive functioning than those of children and adolescents with types I or II SMA ( p < 0.05). Disease-related characteristics (e.g., limited mobility, stable course of disease, skeleton deformity, and digestive system dysfunction) and respiratory support were associated with lower average PedsQL™ FIM total scores ( p < 0.05).…”

“…Most studies focused on affected families or patients and parents equally [ 29 , 31 , 37 – 40 ]. Five studies focused primarily on caregiver outcomes [ 15 , 32 , 33 , 36 , 41 ] and four studies assessed patients’ perspectives but, additionally, reported outcomes for parents [ 16 , 17 , 30 , 34 ].…”

“…In almost all of the included studies, the parents were the informal caregivers of affected children and adolescents, only three studies (19%) also reported on grandparents [ 29 , 30 , 40 ]. In studies reporting the parents’ sex (n = 10) and age (n = 8), participants were mostly mothers as primary caregivers (44–100%).…”

“…Most studies compared families within SMA subtypes (type I–III) and/or different status of medical interventions (e.g., receiving nusinersen, spinal surgery) [ 38 – 40 ]. Other studies compared affected families in different countries [ 15 , 17 ], to healthy controls [ 30 , 36 , 37 ], or to families affected by other diseases [ 33 , 37 ].…”

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

“…Despite SMA being one of the most common inherited neuromuscular disorders, to the best of our knowledge, this is the first report on SMA perspectives in PWSMA and their caregivers in South East Asia. When compared with studies that have been done in other populations across the world, including in China [ 8 ], Europe [ 9 , 10 ], South and North America [ 11 ], this study aims to fill this significant gap in our knowledge of the issues and challenges faced by PWSMA and their caregivers in Malaysia, where economic, cultural and religious nuances may give rise to different challenges and influence perspectives compared to the reported studies in Western countries. It is especially critical to understand more about these aspects in under-reported populations given the dynamic and fast-changing landscape for disease modifying therapies in SMA.…”