S.P.9 Development of an upper limb functional scale in dystrophinopathies

Abstract

Abstract Development of appropriate outcome measures that are able to measure both deterioration and therapeutic effectiveness across the spectrum of severity in dystrophinopathies is complex. A multi-disciplinary international Clinical Outcomes Group consisting of clinicians, scientists, and patient advocacy groups specifically identified a need for a scale to measure motor performance of the upper limb. Out of this larger group, a Physiotherapy Focus Group was formed. Two in person meetings were held where existing upper extremity scales were reviewed for common elements and functional relevance in DMD. Individuals with DMD contributed in these meetings by participating in the proposed assessments and offering their expert opinion on task difficulty and relevance. In parallel, patient focus groups identified patient related outcome measures. The aim of the two parallel groups was to ensure that the scale clearly related to meaningful functional activities. A new scale, PUL (Performance of the Upper Limb), was then designed according to a specific contextual framework, of upper limb function in both ambulant and non-ambulant individuals with dystrophinopathy. The methodology included establishment of the scale framework considering functional muscle strength, growth and contractures on motor performance. Item generation was based on expert review of the assessments and test implementation. Item suitability was based on clinical progression patterns, patient testing and observation, scoring detail, and video review of movement patterns with item performance. Operational definitions and manuals were generated to standardize PUL assessments and piloted across seven international sites. The results from a preliminary Rasch analysis of 70 patients were then interpreted for clinical sensibility and the scale appropriately modified.