Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy

Abstract

Aim An international Clinical Outcomes Group consisting of clinicians, scientists, patient advocacy groups, and industries identified a need for a scale to measure motor performance of the upper limb. We report the steps leading to the development of the Performance of the Upper Limb (PUL), a tool specifically designed for assessing upper limb function in ambulant and non‐ambulant patients with Duchenne muscular dystrophy (DMD). Method The development of the PUL followed a number of steps, from the systematic review and a preliminary study exploring the suitability of the existing measures, to the application of a pilot version in a multicentric setting, with Rasch analysis of the preliminary results, leading to a revised pro forma. Results The PUL was specifically designed for DMD, with a conceptual framework reflecting the progression of weakness and natural history of functional decline in DMD. Modern psychometric methods were used to create a scale with robust internal reliability, validity, and hierarchical scalability; males with DMD and their families were involved iteratively throughout the process of the clinician‐reported outcome assessment tool development to establish clinical meaningfulness and relevance of individual PUL items to activities of daily living. Interpretation The module was developed using innovative approaches and will be useful for designing clinical trials.

Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study

“…aBased on one or more points on the facial weakness domain of the FSHD clinical score.bPerformance of the upper limb shoulder module 31c

Defined by school level; none of the patients attended specialized education.

d

Based on complaints of upper or lower back pain.

e

Based on clinical examination of the spine.

CSS = Clinical Severity Score; ECG = electrocardiogram; EEG = electroencephalogram; FSHD = facioscapulohumeral dystrophy; MRC = Medical Research Council; PUL = Performance of Upper Limb; SD = standard deviation.

…”

How often should sitting and rising from a chair be evaluated in patients with Duchenne muscular dystrophy?

“…Previous studies have shown that patients need upper limb support and employ compensatory movements as DMD progresses 23,24 . The spontaneous selection of compensatory movements can vary among DMD patients, although some synergies are more frequent than others 6 .…”

Skeletal Muscle Quantitative Nuclear Magnetic Resonance Imaging and Spectroscopy as an Outcome Measure for Clinical Trials (Part I)

“…Основными являются методы функциональной оценки, для которых разработано большое число из-мерительных устройств и протоколов, причем многие из них оптимизированы для измерения отдельных движений, тогда как другие направлены на выявление глобальных изменений в активности пациента [14][15][16][17][18][19][20][21][22][23][24][25]. Методы функциональной оценки относятся к акти-метрии, новой быстро развивающейся дисциплине, и часто становятся единственным способом оценки состояния пациента в привычной для него среде через определенные периоды времени.…”