M. van den Hauwe

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

The aim of this prospective longitudinal multi centric study was to evaluate the correlation between the Hammersmith Functional Motor Scale and the 20 item version of the Motor Function Measure in non ambulant SMA children and adults at baseline and over a 12 month period. Seventy-four non-ambulant patients performed both measures at baseline and 49 also had an assessment 12 month later. At baseline the scores ranged between 0 and 40 on the Hammersmith Motor function Scale and between 3 and 45 on the Motor Function Measure 20. The correlation between the two scales was 0.733. The 12 month changes ranged between -11 and 4 for the Hammersmith and between -11 and 7 for the Motor Function Measure 20. The correlation between changes was 0.48. Our results suggest that both scales provide useful information although they appeared to work differently at the two extremes of the spectrum of abilities. The Hammersmith Motor Function Scale appeared to be more suitable in strong non ambulant patients, while the Motor Function Measures appeared to be more sensitive to capture activities and possible changes in the very weak patients, including more items capturing axial and upper limb activities. The choice of these measures in clinical trials should therefore depend on inclusion criteria and magnitude of expected changes.

Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study.

The aim of our longitudinal multicentric study was to establish the changes on the 6min walk test (6MWT) in ambulant SMA type III children and adults over a 12month period. Thirty-eight ambulant type III patients performed the 6MWT at baseline and 12months after baseline. The distance covered in 6min ranged between 75 and 510m (mean 294.91, SD 127) at baseline and between 50 and 611m (mean 293.41m, SD 141) at 12months. The mean change in distance between baseline and 12months was -1.46 (SD 50.1; range: -183 to 131.8m). The changes were not correlated with age or baseline values (p>.05) even though younger patients reaching puberty, had a relatively higher risk of showing deterioration of more than 30m compared to older patients. Our findings provide the first longitudinal data using the 6MWT in ambulant SMA patients.

Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Pulmonary function loss in patients with Duchenne muscular dystrophy (DMD) is progressive and leads to pulmonary insufficiency. The purpose of this study in 10-18 year old patients with DMD is the assessment of the inter-correlation between pulmonary function tests (PFTs), their reliability and the association with the general disease stage measured by the Brooke score. Dynamic PFTs (peak expiratory flow [PEF], forced vital capacity [FVC], forced expiratory volume in one second [FEV1]) and maximum static airway pressures (MIP, MEP) were prospectively collected from 64 DMD patients enrolled in the DELOS trial (ClinicalTrials.gov, number NCT01027884). Baseline PEF percent predicted (PEF%p) was <80% and patients had stopped taking glucocorticoids at least 12 months prior to study start. At baseline PEF%p, FVC%p and FEV1%p correlated well with each other (Spearmans rho: PEF%p-FVC%p: 0.54; PEF%p-FEV1%p: 0.72; FVC%p-FEV1%p: 0.91). MIP%p and MEP%p correlated well with one another (MIP%p-MEP%p: 0.71) but less well with PEF%p (MIP%p-PEF%p: 0.40; MEP%p-PEF%p: 0.41) and slightly better with FVC%p (MIP%p-FVC%p: 0.59; MEP%p-FVC%p: 0.74). The within-subject coefficients of variation (CV) for successive measures were 6.97% for PEF%p, 6.69% for FVC%p and 11.11% for FEV1%p, indicating that these parameters could be more reliably assessed compared to maximum static airway pressures (CV for MIP%p: 18.00%; MEP%p: 15.73%). Yearly rates of PFT decline (placebo group) were larger in dynamic parameters (PEF%p: -8.9% [SD 2.0]; FVC%p: -8.7% [SD 1.1]; FEV1%p: -10.2% [SD 2.0]) than static airway pressures (MIP%p: -4.5 [SD 1.3]; MEP%p: -2.8 [SD 1.1]). A considerable drop in dynamic pulmonary function parameters was associated with loss of upper limb function (transition from Brooke score category 4 to category 5). In conclusion, these findings expand the understanding of the reliability, correlation and evolution of different pulmonary function measures in DMD patients who are in the pulmonary function decline phase.

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

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.

M.P.3.02 Detailed analysis of daily-life physical activity patterns in DMD children

Reference LMAM-CONF-2010-014doi:10.1016/j.nmd.2009.06.183View record in Web of Science Record created on 2010-01-21, modified on 2017-05-10

M.P.3.01 Gait steadiness and upper-body kinematics in DMD children

Reference LMAM-CONF-2010-013doi:10.1016/j.nmd.2009.06.182View record in Web of Science Record created on 2010-01-21, modified on 2017-05-10