Coelho Maíra, Zonta Marise Bueno, Raskin Salmo, Valderramas Silvia
Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
Laboratório de Genética, Curitiba, Paraná, Brazil.
Rev Paul Pediatr. 2025 Jan 17;43:e2024073. doi: 10.1590/1984-0462/2025/43/2024073. eCollection 2025.
The aim of this study was to assess the perception of quality of life of patients with spinal muscular atrophy (SMA) and investigate whether there is a correlation between patients' perception and that of their carers.
Cross-sectional analytical observational study. In the first part, socioeconomic, demographic, clinical, and treatment information were collected from patients diagnosed with SMA, regardless of type, sex, or age. SMA type 1 does not sit; SMA type 2 sits; SMA type 3 walks; and SMA type 4 begins in adulthood. In the second part of the study, patients aged between 2 and 25 years and their caregivers responded to the Pediatric Quality of Life Inventory 4.0 questionnaire.
Of the 235 families recruited, 167 were eligible to respond to the questionnaire, 115 caregivers and 49 patients were included. The results point to a different perception of quality of life between patients and caregivers. Patients with SMA type 2 perceive more impaired physical and emotional capacity compared to SMA type 3 and 1, respectively. As for caregivers, the perception of quality of life in relation to physical and social capacity and the total score are worse for patients with SMA type 1 compared to other types. Perceptions correlate with emotional capacity in SMA type 2 and the total aspect in SMA type 3.
Patients with SMA type 2 had a worse perception of their quality of life than other patients. Perception differed between patients and their caregivers, with the former having a better perception than the latter.
本研究旨在评估脊髓性肌萎缩症（SMA）患者对生活质量的认知，并调查患者与照料者的认知之间是否存在相关性。
横断面分析观察性研究。第一部分，收集被诊断为SMA患者的社会经济、人口统计学、临床和治疗信息，不考虑类型、性别或年龄。1型SMA患者不能坐；2型SMA患者能坐；3型SMA患者能行走；4型SMA患者成年起病。研究的第二部分，年龄在2至25岁之间的患者及其照料者对儿童生活质量量表4.0问卷进行了回答。
在招募的235个家庭中，167个家庭有资格回答问卷，纳入了115名照料者和49名患者。结果表明患者和照料者对生活质量的认知不同。与3型和1型SMA患者相比，2型SMA患者分别感觉身体和情感能力受损更严重。至于照料者，与其他类型相比，1型SMA患者的身体和社会能力以及生活质量总分的认知更差。2型SMA患者的认知与情感能力相关，3型SMA患者的认知与整体方面相关。
2型SMA患者对其生活质量的认知比其他患者更差。患者和照料者的认知存在差异，前者的认知比后者更好。
