Synopsis Limb contractures are a common impairment in neuromuscular diseases (NMD). They contribute to increased disability due to decreased motor performance, mobility limitations, reduced functional range of motion, loss of function for activities of daily living (ADL), and increased pain. The pathogenesis of contractures is multifactorial. Myopathic conditions are associated with more severe limb contractures in comparison to neuropathic disorders. Although the evidence supporting the efficacy of multiple interventions to improve ROM in NMD in a sustained manner is lacking, there are generally accepted principles with regard to splinting, bracing, stretching, and surgery that help minimize the impact or disability from the contractures.
Monitoring body motion is relevant to motor control disorders as well as assessment of fine motor skills in child development. Furthermore, motion tracking is necessary for rehabilitation monitoring and injury prevention and benefits both sick and healthy individuals. Flexible pressure sensors based on resistors, capacitors, inductors, or transistors are reviewed in the context of healthcare measurements, ranging from physiological signals to body movement characteristics such as grip and gait. To demonstrate the use of flexible pressure sensors for motor assessment, a touch sensing glove that evaluates fine motor skills in autism research is developed. The results show that autistic children perform fewer taps per minute compared to typically developing children, with larger variations in tap durations. In a second example, a force and motion sensing glove is developed to assess spasticity, a neuromuscular disorder that causes muscle stiffness/resistance and jerky movement. Analyses of force versus velocity show movement-dependent muscle resistance in a patient with spasticity. Through these flexible sensor systems, the shift from subjective scores to objective measurement will promote better diagnosis and dramatically improve the accuracy in tracking patient response to therapy.patients doing certain movements, and then clinicians rank each patient's level according to qualitative descriptions in benchmark classification scales. [12,13] The subjective scores can be inconsistent between raters and do not capture finelevel changes in a patient's progress in response to therapy. Therefore, there is a critical need to tackle the issue of imprecise assessment of motor disorders.With recent advances in flexible sensors and innovations in tactile sensing, [14][15][16][17][18][19] we have new low-cost technologies that are prime to facilitate quantitative evaluation of motor control. This progress report presents current developments in wearable sensor systems applicable to motor disorders, so that consistent, objective metrics become available to accurately track whether a treatment effectively relieves symptoms. The wearable sensors are not limited to placement on patients but can also be worn by clinicians or caregivers to assist them in taking measurements during patient interactions. [20,21] The point-of-care sensor systems will allow frequent monitoring, which is highly desirable to offer a better understanding of the patient's short and long-term response to therapies, to tailor treatment and improve outcome and quality of life for patients.Other reviews [14][15][16][17][18][19] have already extensively covered the flexible materials and devices used in tracking vital signs and electronic skin applications. In light of that, this progress report focuses on the applications in monitoring motor skills, in particular to implement pressure sensor designs for wearable systems with diverse form factors, for instance, gloves, [20,22,23] epidermal tags tags, [24,25] and shoe insoles. [26,27] We will discuss the mechanis...
The purpose of this study was to assess regional body composition and its correlation with regional strength in Duchenne muscular dystrophy (DMD) subjects and able-bodied controls. Regional dual-energy X-ray absorptiometry (DEXA) measurements and isometric strength were obtained for 23 DMD subjects and 23 control subjects. DMD subjects showed a decreased regional lean mass (P < 0.001). The correlation between regional strength and regional lean mass was stronger for controls than for DMD subjects. DMD subjects had decreased regional lean mass, increased regional fat mass, and decreased strength. Muscle Nerve 39: 647-651, 2009.
Study Design Retrospective review of scoliosis progression, pulmonary and cardiac function in a series of patients with Duchenne Muscular Dystrophy (DMD). Objective To determine whether operative treatment of scoliosis decreases the rate of pulmonary function loss in patients with DMD. Summary of Background Data It is generally accepted that surgical intervention should be undertaken in DMD scoliosis once curve sizes reach 35 degrees to allow intervention before critical respiratory decline has occurred. There are conflicting reports, however, regarding the effect of scoliosis stabilization on the rate of pulmonary function decline when compared to non operative cohorts. Methods We reviewed spinal radiographs, echocardiograms, and spirometry, hospital, and operative records of all patients seen at our tertiary referral center from July 1, 1992 to June 1, 2007 Data was recorded to Microsoft Excel and analyzed with SAS and R statistical processing software. Results The percent predicted forced vital capacity (PPFVC) decreased 5% /year prior to operation. The mean PPFVC was 54% (sd=21%) prior to operation with a mean postoperative PPFVC of 43% (sd=14%). Surgical treatment was associated with a 12% decline in PPFVC independent of other treatment variables. PPFVC after operation declined at a rate of 1% per year and while this rate was lower, it was not significantly different than the rate of decline present prior to operation (p=0.18). Cardiac function as measured by left ventricular fractional shortening declined at a rate of 1%/year with most individuals exhibiting an LVFS rate of >30 prior to operation. Conclusion Operative treatment of scoliosis in DMD using the Luque Galveston method was associated with a reduction of FVC related to operation. The rate of pulmonary function decline after operation was not significantly reduced when compared to the rate of preoperative FVC decline.
Introduction:We carried out a population-based study of dystrophin mutations in patients followed by members of the Canadian Paediatric Neuromuscular Group (CPNG) over a ten-year period. Objectives: We aimed to describe the changes in diagnostic testing for dystrophinopathy and to determine the frequency of dystrophin mutations from 2000 to 2009. Methods: De-identified data containing the clinical phenotypes, diagnostic methods, and mutational reports from dystrophinopathy patients followed by CPNG centres from January 2000 to December 2009 were analyzed using descriptive statistics. Results: 773 patients had a confirmed diagnosis of dystrophinopathy based on genetic testing (97%), muscle biopsy (2%), or family history (1%). 573 (74%) had complete deletion/duplication analysis of all 79 exons or whole gene sequencing, resulting in 366 (64%) deletions, 64 (11%) duplications, and 143 (25%) point mutations. The percentage of patients who were diagnosed using currently accepted genetic testing methods varied across Canada, with a mean of 63% (SD 23). 246 (43%) mutations involved exons 45 to 53. The top ten deletions (n=147, 26%) were exons 45-47, 45-48, 45, 45-50, 45-55, 51, 45-49, 45-52, 49-50, and 46-47. 169 (29%) mutations involved exons 2 to 20. The most common duplications (n=29, 5.1%) were exons 2, 2-7, 2-17, 3-7, 8-11, 10, 10-11, and 12. Conclusion: This is the most comprehensive report of dystrophin mutations in Canada. Consensus guidelines regarding the diagnostic approach to dystrophinopathy will hopefully reduce the geographical variation in mutation detection rates in the coming decade.RÉSUMÉ: Étude de population sur les mutations de la dystrophine au Canada. Contexte : Nous avons effectué une étude de population sur les mutations du gène de la dystrophine chez des patients suivis par des membres du Canadian Paediatric Neuromuscular Group (CPNG) au cours d'une période de 10 ans. Objectifs : Notre but était de décrire l'évolution des tests diagnostiques des dystrophinopathies et de déterminer la fréquence des mutations du gène de la dystrophine de 2000 à 2009. Méthode : Nous avons analysé par des méthodes statistiques descriptives des données anomymisées, soit le phénotype clinique, les méthodes diagnostiques et l'identification de la mutation, chez des patients atteints de dystrophinopathies suivis dans des centres du CPNG de janvier 2000 à décembre 2009. Résultats : Un diagnostic de dystrophinopathie, confirmé par un test génétique (97%), une biopsie musculaire (2%) ou une histoire familiale (1%), a été posé chez 773 patients. Chez 573 patients (74%) une analyse complète des délétions/duplications des 79 exons ou un séquençage complet du gène a été effectué. Nous avons identifié des délétions chez 366 (64%) patients, des duplications chez 64 (11%) et des mutations ponctuelles chez 143 (25%). Le pourcentage de patients chez qui le diagnostic de la maladie a été posé au moyen d'un test génétique dont la méthode de laboratoire est actuellement reconnue, était variable à travers le Canada, soit c...
Shunted hydrocephalus has a negative impact on the perception of quality of life, an effect that may be attenuated by age. Further study and more-specific measurement tools are needed to better understand health-related quality of life in children with spina bifida.
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