Oliveira M R, Schwartz I, Costa L S, Maia H, Ribeiro M, Guerreiro L B, Acosta A, Rocha N S
Universidade Federal do Rio Grande do Sul, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Santa Cecília, Porto Alegre, RS, 90035-903, Brazil.
Universidade Federal Fluminense, Rua Miguel de Frias, 9 Icaraí, Niterói, RJ, 24220-008, Brazil.
BMC Res Notes. 2018 Jan 15;11(1):28. doi: 10.1186/s13104-018-3157-4.
To describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro).
Three versions of the new instrument were developed, each for a different age group: children (age 8-12 years), adolescents (age 13-17), and adults (age ≥ 18). The FGs mostly confirmed the relevance of items. All FGs unanimously agreed on the facets: School, Happiness, Life Prospects, Religiosity, Pain, Continuity of Treatment, Trust in Treatment, Relationship with Family, Relationship with Healthcare Providers, Acceptance, and Meaning of Life. The overall concept of QoL (as proposed by the WHO-World Health Organization) and its facets apply to this patient population. However, other specific facets-particularly concerning clinical manifestations and the reality of the disease-were suggested, confirming the need for the development of a specific QoL instrument for MPS.
采用定性焦点小组（FG）设计，描述患者、其照料者及其医疗服务提供者对开发一种用于评估黏多糖贮积症（MPS）患者生活质量（QoL）的新型特定工具的看法。焦点小组在巴西的两个州（南里奥格兰德州和里约热内卢州）举行。
开发了该新工具的三个版本，每个版本针对不同年龄组：儿童（8至12岁）、青少年（13至17岁）和成人（≥18岁）。焦点小组大多确认了各条目的相关性。所有焦点小组一致认同以下方面：学校、幸福、生活前景、宗教信仰、疼痛、治疗的连续性、对治疗的信任、与家人的关系、与医疗服务提供者的关系、接纳以及生活意义。生活质量的总体概念（如世界卫生组织所提出的）及其方面适用于该患者群体。然而，有人提出了其他特定方面，特别是关于临床表现和疾病实际情况的方面，这证实了需要为黏多糖贮积症开发一种特定的生活质量工具。
