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Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: Collagen VI Related Myopathy (COL6-RM) and Laminin α2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RM and LAMA2-RD. In the first year, outcome measures tested included: Motor Function Measure 32 (MFM32), forced vital capacity (FVC) percent predicted sitting, myometry, goniometry, 10-meter walk, Egen Klassification 2, and PedsQL™ Generic and Neuromuscular Cores. In the second year, we added the North Star Ambulatory Assessment (NSAA), Hammersmith Functional Motor Scale (HFMS), timed functional tests, Measure of Activity Limitations (ACTIVLIM), Quality of Upper Extremity Skills Test (QUEST), and Patient-Reported Outcomes Measurement Information System (PROMIS) fatigue subscale. The MFM32 showed strong inter-rater (0.92) and internal consistency (0.96) reliabilities. Concurrent validity for the MFM32 was supported by large correlations (range 0.623–0.936) with the following: FVC, NSAA, HFMS, timed functional tests, ACTIVLIM, and QUEST. Significant correlations of the MFM32 were also found with select myometry measurements, mainly of the proximal extremities and domains of the PedsQL™ scales focusing on physical health and neuromuscular disease. Goniometry measurements were less reliable. The Motor Function Measure is reliable and valid in the two specific subtypes of CMD evaluated, COL6-RM and LAMA2-RD. The NSAA is useful as a complementary outcome measure in ambulatory individuals. Preliminary concurrent validity of several other clinical outcome measures was also demonstrated for these subtypes.

ObjectiveTo identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).MethodsOver the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts.ResultsTotal MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4.01 and 2.60 points, respectively, each year (p < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% (p < 0.05) and 2.55% (p < 0.01). Range-of-motion measurements decreased by 3.21° (p < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° (p < 0.01) in right knee extension each year in individuals with COL6-RDs. Pulmonary function demonstrated a yearly decline in sitting forced vital capacity percent predicted of 3.03% (p < 0.01) in individuals with COL6-RDs. There was no significant change in quality-of-life measures analyzed.ConclusionResults of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs.

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Word count = 9,107 excluding references Abstract PurposeSocial media such as blogs are being widely used in organizations in order to undertake internal communication and share knowledge, rendering them important boundary objects. A root metaphor of the boundary object domain is the notion of relatively static and inert objects spanning similarly static boundaries. A strong sociomaterial perspective allows the immisciblity of object and boundary to be challenged, since a key tenet of this perspective is the ongoing and mutually-constituted performance of the material and social. Design/methodology/approachThe aim of our research is to draw upon sociomateriality to explore the operation of social media platforms as intra-organizational boundary objects. Given the novel perspective of this study and its social constructivist ontology, we adopt an exploratory, interpretivist research design. This is operationalized as a case study of the use of an organizational blog by a major UK government department over an extended period. A novel aspect of the study is our use of data released under a Freedom of Information request. FindingsWe present three exemplar instances of how the blog and organizational boundaries were performed in the situated practice of the case study organization. We draw on literature on boundary objects, blogs and sociomateriality in order to provide a theoretical explication of the mutually-constituted performance of the blog and organizational boundaries. We also invoke the notion of 'extended chains of intra-action' to theorise changes in the wider organization. 2 Originality/valueAdoption of a sociomaterial lens provides a highly novel perspective of boundary objects and organizational boundaries. The study highlights the indeterminate and dynamic nature of boundary objects and boundaries, with both being in an intra-active state of becoming, challenging conventional conceptions. The study demonstrates that specific materialdiscursive practices arising from the situated practice of the blog at the respective boundaries were performative, reconfiguring the blog and boundaries and being generative of further changes in the organization.