Yao Mei, Ma Ying, Qian Ruiying, Xia Yu, Yuan Changzheng, Bai Guannan, Mao Shanshan
Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
School Public Health of Zhejiang University, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Orphanet J Rare Dis. 2021 Jan 6;16(1):7. doi: 10.1186/s13023-020-01638-8.
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.
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.
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).
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.
脊髓性肌萎缩症（SMA）是一种常染色体隐性运动神经元疾病，可导致多器官功能障碍。SMA会损害患者及其家庭的生活质量（QoL）。我们旨在评估中国一项横断面研究中SMA患儿及其照料者的生活质量，并确定与生活质量相关的因素。
我们从中国一家儿童医院招募了101名0至17岁的SMA患儿及其照料者。其中26名患儿为I型SMA，56名患儿为II型，19名患儿为III型。每个孩子的生活质量由儿童生活质量量表3.0神经肌肉模块（PedsQL NMM）进行测量，该量表由孩子的照料者完成。照料者的生活质量由儿童生活质量量表家庭影响模块（PedsQL FIM）进行测量。使用代理报告问卷收集社会人口学特征、疾病特异性特征和治疗方面的信息。采用两样本t检验和单因素方差分析比较各亚组生活质量平均得分的差异。
与I型或II型SMA患儿相比，III型SMA患儿的PedsQL NMM总平均分以及神经肌肉疾病和家庭资源领域的平均分更高（p < 0.001）。III型SMA患儿的照料者在PedsQL FIM的身体、情感、社会和认知功能领域的平均得分高于I型或II型SMA患儿的照料者（p < 0.05）。此外，疾病相关特征（如活动受限、疾病病程稳定、骨骼畸形和消化系统功能障碍）以及呼吸支持与PedsQL NMM和PedsQL FIM的较低平均得分相关（p < 0.05）。运动训练、多学科团队管理以及使用药物诺西那生钠均与PedsQL NMM和FIM的较高平均得分相关（p < 0.05）。
我们研究表明了可能损害或改善SMA患儿及其父母生活质量的因素。特别是，与III型SMA患儿及其照料者相比，I型和II型SMA患儿及其照料者的生活质量相对较差。我们强烈建议加强多学科团队的护理标准，以提高SMA患者的生活质量。我们的研究呼吁临床医生在临床实践中更多关注生活质量的测量，以增进对SMA影响的理解，并做出更好的治疗决策。
