Gillman Aviva, Ciobanu Teofil, Barrett Louise, Davies Evan W, Murphy Alexander P, Johnson Alex, Mills Jessica, Heinrich Phoebe, Przydzial Krystian, Ewens Bethany, Vandenberg Gerrit, Cano Stefan, Mayhew Anna
Modus Outcomes, a THREAD Company, London, United Kingdom.
F. Hoffmann-La Roche, Basel, Switzerland.
Front Neurol. 2025 Mar 4;16:1509174. doi: 10.3389/fneur.2025.1509174. eCollection 2025.
Duchenne Muscular Dystrophy (DMD) is a rare X-linked genetic disorder caused by mutations in the dystrophin gene. The North Star Ambulatory Assessment (NSAA) and Performance of Upper Limb (PUL) are used to measure motor performance in ambulatory and non-ambulatory individuals, respectively. There is limited published qualitative evidence on what constitutes a meaningful change on either instrument. The aim of this study is to understand meaningful change in functional abilities as measured by the NSAA and PUL at different ability levels from the perspective of individuals with DMD, caregivers of individuals with DMD, and clinicians.
The study utilized a non-interventional, descriptive, cross-sectional qualitative design consisting of 69 semi-structured interviews, including individuals with DMD ( = 18), caregivers of individuals with DMD ( = 51), and neuromuscular physiotherapists ( = 2) to understand meaningful change on the NSAA and PUL.
The results for both instruments indicated that: (i) items that are meaningful differ based on ability level; (ii) maintaining function in lower and upper limbs is the ultimate goal; (iii) meaningful change is often reported in relation to gain or loss of specific function, as opposed to number of total points on the scale; and (iv) losing one scale point corresponds to either a partial or full loss in function and activity, which has differing impacts on daily life.
The perception of meaningful change in DMD as measured by the NSAA is influenced by ability levels and ambulatory function, with participants describing their need to maximize certain abilities, maintain function, and retain independence. For the PUL, participants underscored the importance of maintenance of their functional abilities, and highlighted key themes related to maintaining independence in ADLs, reaching, eating/drinking, and finger function for technology use across score categories.
杜氏肌营养不良症（DMD）是一种罕见的X连锁遗传病，由肌营养不良蛋白基因突变引起。北极星动态评估（NSAA）和上肢功能表现（PUL）分别用于测量能行走和不能行走个体的运动表现。关于这两种工具中何种变化具有意义，已发表的定性证据有限。本研究的目的是从DMD患者、DMD患者的照料者以及临床医生的角度，了解在不同能力水平下，通过NSAA和PUL测量的功能能力的有意义变化。
本研究采用非干预性、描述性横断面定性设计，包括69次半结构化访谈，访谈对象包括DMD患者（n = 18）、DMD患者的照料者（n = 51）和神经肌肉物理治疗师（n = 2），以了解NSAA和PUL的有意义变化。
两种工具的结果均表明：（i）有意义的项目因能力水平而异；（ii）维持下肢和上肢功能是最终目标；（iii）有意义的变化通常与特定功能的获得或丧失有关，而非量表总分；（iv）量表上失去一分对应功能和活动的部分或完全丧失，这对日常生活有不同影响。
NSAA测量的DMD中有意义变化的认知受能力水平和行走功能影响，参与者描述了他们最大化某些能力、维持功能和保持独立的需求。对于PUL，参与者强调了维持其功能能力的重要性，并突出了与在日常生活活动中保持独立、够物、进食/饮水以及在不同分数类别中使用技术时手指功能相关的关键主题。
