PDF(Pubmed)
Abstract：
BACKGROUND: SMA is a hereditary neuromuscular disease that causes progressive muscle weakness and atrophy. Several studies have shown that the burden of SMA is very high at many levels. Functional assessment tools currently used do not completely address the impact of the disease in patients\' life. The objective of this qualitative study was to identify aspects of SMA that are relevant to patients and to design items useful for assessment purposes.
RESULTS: Five focus group sessions were run during an annual SMA families meeting in Madrid, Spain. Focus groups were composed by parents of SMA type I children, sitter children type II-III, parents of sitter children type II-III, adult patients, and parents of walker children. Two trained facilitators conducted the focus groups using a semi-structured guideline to cover previously agreed topics based on the input of a Scientific and Patient Advisory Committee. The guideline was adapted for the different groups. According to what was communicated by participants, SMA entails a high burden of disease for both patients and their parents. Burden was perceived in physical, psychological, and social areas. Patient\'s physical domain was the most relevant for participants, especially for parents of non-ambulant children, followed by limitations of motor scales to capture all changes, parents psychological burden, treatment expectations and patient\'s psychological burden. Ten domains were the main areas identified as impacted by the disease: mobility and independence, fatigue and fatigability, infections and hospital consultations, scoliosis and contractures, vulnerability, pain, feeding, time spent in care, breathing, and sleep and rest.
CONCLUSIONS: This study confirms the necessity of evaluating other aspects of the disease that are not assessed in the functional motor scale. Measures of other aspects of the disease, such as pain, fatigue, feeding, should be also considered. A patient-reported outcomes instrument measuring such aspects in a valid and reliable way would be very useful. This study generated a list of new items relevant to be systematically measured in the assessment of the impact of SMA on the patients\' everyday life.
RESULTS: Five focus group sessions were run during an annual SMA families meeting in Madrid, Spain. Focus groups were composed by parents of SMA type I children, sitter children type II-III, parents of sitter children type II-III, adult patients, and parents of walker children. Two trained facilitators conducted the focus groups using a semi-structured guideline to cover previously agreed topics based on the input of a Scientific and Patient Advisory Committee. The guideline was adapted for the different groups. According to what was communicated by participants, SMA entails a high burden of disease for both patients and their parents. Burden was perceived in physical, psychological, and social areas. Patient\'s physical domain was the most relevant for participants, especially for parents of non-ambulant children, followed by limitations of motor scales to capture all changes, parents psychological burden, treatment expectations and patient\'s psychological burden. Ten domains were the main areas identified as impacted by the disease: mobility and independence, fatigue and fatigability, infections and hospital consultations, scoliosis and contractures, vulnerability, pain, feeding, time spent in care, breathing, and sleep and rest.
CONCLUSIONS: This study confirms the necessity of evaluating other aspects of the disease that are not assessed in the functional motor scale. Measures of other aspects of the disease, such as pain, fatigue, feeding, should be also considered. A patient-reported outcomes instrument measuring such aspects in a valid and reliable way would be very useful. This study generated a list of new items relevant to be systematically measured in the assessment of the impact of SMA on the patients\' everyday life.
摘要：
背景：SMA是一种遗传性神经肌肉疾病，可导致进行性肌肉无力和萎缩。一些研究表明，SMA的负担在许多水平上都非常高。目前使用的功能评估工具不能完全解决疾病对患者生活的影响。这项定性研究的目的是确定与患者相关的SMA方面，并设计可用于评估目的的项目。
结果：在马德里举行的SMA家庭年度会议期间举办了五次焦点小组会议，西班牙。焦点小组由SMAI型儿童的父母组成，II-III型儿童，II-III型保姆儿童的父母，成年患者,和沃克孩子的父母。两名经过培训的主持人使用半结构化指南进行了焦点小组，以根据科学和患者咨询委员会的意见涵盖先前商定的主题。该指南适用于不同的群体。根据参与者传达的信息，SMA为患者及其父母带来了很高的疾病负担。负担是在身体上感知的，心理,和社会领域。患者的身体领域与参与者最相关，特别是对于非流动儿童的父母，其次是运动秤的限制，以捕捉所有的变化，父母的心理负担，治疗期望和患者的心理负担。十个领域是被确定为受疾病影响的主要领域：流动性和独立性，疲劳和易疲劳，感染和医院咨询，脊柱侧凸和挛缩，脆弱性,疼痛,喂养,花在护理上的时间，呼吸,睡觉和休息。
结论：这项研究证实了评估未在功能性运动量表中评估的疾病其他方面的必要性。疾病其他方面的措施，如疼痛，疲劳,喂养,也应该考虑。以有效且可靠的方式测量这些方面的患者报告结果仪器将非常有用。这项研究产生了一系列相关的新项目，用于评估SMA对患者日常生活的影响。
结果：在马德里举行的SMA家庭年度会议期间举办了五次焦点小组会议，西班牙。焦点小组由SMAI型儿童的父母组成，II-III型儿童，II-III型保姆儿童的父母，成年患者,和沃克孩子的父母。两名经过培训的主持人使用半结构化指南进行了焦点小组，以根据科学和患者咨询委员会的意见涵盖先前商定的主题。该指南适用于不同的群体。根据参与者传达的信息，SMA为患者及其父母带来了很高的疾病负担。负担是在身体上感知的，心理,和社会领域。患者的身体领域与参与者最相关，特别是对于非流动儿童的父母，其次是运动秤的限制，以捕捉所有的变化，父母的心理负担，治疗期望和患者的心理负担。十个领域是被确定为受疾病影响的主要领域：流动性和独立性，疲劳和易疲劳，感染和医院咨询，脊柱侧凸和挛缩，脆弱性,疼痛,喂养,花在护理上的时间，呼吸,睡觉和休息。
结论：这项研究证实了评估未在功能性运动量表中评估的疾病其他方面的必要性。疾病其他方面的措施，如疼痛，疲劳,喂养,也应该考虑。以有效且可靠的方式测量这些方面的患者报告结果仪器将非常有用。这项研究产生了一系列相关的新项目，用于评估SMA对患者日常生活的影响。
