Development and validation of a motor function classification in patients with neuromuscular disease: the NM-score.

OBJECTIVE: To develop a classification for neuromuscular disease patients in each of the three motor function domains (D1: standing and transfers; D2: axial and proximal function; D3: distal function). MATERIALS AND METHODS: A draft classification was developed by a study group and then improved by qualitative validation studies (according to the Delphi method) and quantitative validation studies (content validity, criterion validity and inter-rater reliability). A total of 448 patients with genetic neuromuscular diseases participated in the studies. RESULTS: On average, it took 6.3minutes to rate a patient. The inter-rater agreement was good when the classification was based on patient observation or an interview with the patient (Cohen's kappa=0.770, 0.690 and 0.642 for NM-Score D1, D2 and D3 domains, respectively). Stronger correlations (according to Spearman's coefficient) with the respective "gold standard" classifications were found for NM-Score D1 (0.86 vs. the Vignos Scale and -0.88 vs. the Motor Function Measure [MFM]-D1) and NM-Score D2 (-0.7 vs. the Brooke Scale and 0.64 vs. MFM D2) than for NM-Score D3 (0.49 vs. the Brooke scale and -0.49 vs. MFM D3). DISCUSSION/CONCLUSIONS: The NM-Score is a reliable, reproducible outcome measure with value in clinical practice and in clinical research for the description of patients and the constitution of uniform patient groups (in terms of motor function).

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]. / Variabilité phénotypique et corrélations génotype-phénotype des dystrophinopathies : contribution des banques de données.

The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of the clinical part of the French DMD database. The collection of 70,000 clinical data for 600 patients with an average longitudinal follow-up of 12years enabled clarification of the natural history of Duchenne and Becker muscular dystrophies and clinical presentations in symptomatic females. We were able to specify the phenotypic heterogeneity of motor, orthopedic and respiratory involvements (severe, standard and intermediary form), of the cardiac disorder (severe, standard or absent cardiomyopathy, absence of correlation between motor and cardiac involvements), and of brain function (mental deficiency in the patients with Becker muscular dystrophy, psychopathological disorders in dystrophinopathies). Phenotypic variability did not correlate with a specific mutational spectrum. We propose a model of phenotypic analysis based on the presence or not of muscular and cardiac involvements (described by age at onset and rate of progression) and brain involvement (described by the type and the severity of the cognitive impairment and of the psychological disorders). The methodology developed for the DMD gene can be generalized and used for other databases dedicated to genetic diseases. Application of this model of phenotypic analysis for each patient and further development of the database should contribute substantially to clinical research providing useful tools for future clinical trials.

[Scoliosis outcome in cerebral palsy patients with total body involvement: a descriptive study of 61 children and adults, with or without spinal fusion]. / Retentissement de la scoliose chez les patients polyhandicapés: étude descriptive de 61 enfants et adultes polyhandicapés avec ou sans arthrodèse vertébrale.

INTRODUCTION: The literature is controversial about how to manage scoliosis in cerebral palsy patients with total body involvement. Spinal fusion is admitted as the only means to stop the evolution of the curve but remains associated with many complications. OBJECTIVES: The aim of this descriptive study was to formulate hypotheses concerning the interest of spinal fusion in this population. METHODS: This descriptive cross-sectional study was conducted in 61 patients aged 4 to 48 years (mean 24 years, median 20 years) with severe scoliosis (Cobb score>40 degrees ). Each patient had undergone recent X-ray of the spine and hips and a clinical exam. Data were collected on orthopaedic and functional status, health level (pulmonary, digestive, nutrition, skin parameters), pain, and subjective quality of life (sQoL). RESULTS: Data were collected for all 61 patients (35 females, 26 males), 16 underwent spinal fusion at a mean age of 16.5 years (prevalence of 32.0%). No significant difference was found between patients with a spinal instrumentation and others in variables tested. A difference might be present with functional level, but only results from a longitudinal study would be conclusive. Pain was prevalent (19.7%), not treated sufficiently (only 50% receive treatment), and contributes to poor sQoL (p<0.042). Among the other data collected, nutritional level has the greatest influence on general health status (p<0.05). CONCLUSIONS: Systematic spinal fusion cannot be generalized for this population of patients with cerebral palsy and total body involvement. However, health status and quality of life could be improved with better care of nutritional problems and pain.