Muscle activation during gait in children with Duchenne muscular dystrophy

The aim of this prospective study was to investigate changes in muscle activity during gait in children with Duchenne muscular Dystrophy (DMD). Dynamic surface electromyography recordings (EMGs) of 16 children with DMD and pathological gait were compared with those of 15 control children. The activity of the rectus femoris (RF), vastus lateralis (VL), medial hamstrings (HS), tibialis anterior (TA) and gastrocnemius soleus (GAS) muscles was recorded and analysed quantitatively and qualitatively. The overall muscle activity in the children with DMD was significantly different from that of the control group. Percentage activation amplitudes of RF, HS and TA were greater throughout the gait cycle in the children with DMD and the timing of GAS activity differed from the control children. Significantly greater muscle coactivation was found in the children with DMD. There were no significant differences between sides. Since the motor command is normal in DMD, the hyper-activity and co-contractions likely compensate for gait instability and muscle weakness, however may have negative consequences on the muscles and may increase the energy cost of gait. Simple rehabilitative strategies such as targeted physical therapies may improve stability and thus the pattern of muscle activity

Micro/mini-dystrophines et dystrophie musculaire de Duchenne : entre espoirs et défis

Les nombreux travaux précliniques de thérapie génique (TG) mis en œuvre afin de modifier l’histoire naturelle de la dystrophie musculaire de Duchenne (DMD), ont aujourd’hui abouti à la mise en place d’essais cliniques évaluant la sécurité et l’efficacité de l’administration de mini- ou micro-dystrophines chez l’enfant, et à terme peut-être chez l’adulte. Nous reprendrons dans cet article le principe général de la TG, les modèles animaux étudiés, les essais cliniques avec mini- ou micro-dystrophine actuellement en cours, et enfin les limites et effets indésirables possibles de ce type de thérapeutique innovante

Le syndrome de Schwartz-Jampel

Le syndrome de Schwartz-Jampel (SJS, OMIM #255800) est une affection génétique ultra-rare définie par des manifestations myotoniques et des anomalies ostéo-articulaires. Transmis selon un mode autosomique récessif, sa prévalence est plus élevée dans les zones de forte endogamie. La découverte du gène HSPG2 codant une protéine de la lame basale a permis de mieux en délimiter les contours nosologiques. Le diagnostic est généralement très fortement suspecté cliniquement puis confirmé en biologie moléculaire. Le traitement reste à ce jour essentiellement symptomatique

Clinical applications of mobile health wearable–based sleep monitoring: Systematic review

Background: Sleep disorders are a major public health issue. Nearly 1 in 2 people experience sleep disturbances during their lifetime, with a potential harmful impact on well-being and physical and mental health. Objective: The aim of this study was to better understand the clinical applications of wearable-based sleep monitoring; therefore, we conducted a review of the literature, including feasibility studies and clinical trials on this topic. Methods: We searched PubMed, PsycINFO, ScienceDirect, the Cochrane Library, Scopus, and the Web of Science through June 2019. We created the list of keywords based on 2 domains: wearables and sleep. The primary selection criterion was the reporting of clinical trials using wearable devices for sleep recording in adults. Results: The initial search identified 645 articles; 19 articles meeting the inclusion criteria were included in the final analysis. In all, 4 categories of the selected articles appeared. Of the 19 studies in this review, 58 % (11/19) were comparison studies with the gold standard, 21% (4/19) were feasibility studies, 15% (3/19) were population comparison studies, and 5% (1/19) assessed the impact of sleep disorders in the clinic. The samples were heterogeneous in size, ranging from 1 to 15,839 patients. Our review shows that mobile-health (mHealth) wearable–based sleep monitoring is feasible. However, we identified some major limitations to the reliability of wearable-based monitoring methods compared with polysomnography. Conclusions: This review showed that wearables provide acceptable sleep monitoring but with poor reliability. However, wearable mHealth devices appear to be promising tools for ecological monitoring

Semi-automatic muscle segmentation in MR images using deep registration-based label propagation

International audienceFully automated approaches based on convolutional neural networks have shown promising performances on muscle segmentation from magnetic resonance (MR) images, but still rely on an extensive amount of training data to achieve valuable results. Muscle segmentation for pediatric and rare diseases cohorts is therefore still often done manually. Producing dense delineations over 3D volumes remains a timeconsuming and tedious task, with significant redundancy between successive slices. In this work, we propose a segmentation method relying on registration-based label propagation, which provides 3D muscle delineations from a limited number of annotated 2D slices. Based on an unsupervised deep registration scheme, our approach ensures the preservation of anatomical structures by penalizing deformation compositions that do not produce consistent segmentation from one annotated slice to another. Evaluation is performed on MR data from lower leg and shoulder joints. Results demonstrate that the proposed few-shot multi-label segmentation model outperforms state-of-the-art techniques

Care-related pain and discomfort in children with motor disabilities in rehabilitation centres

International audienc

No pain, no gain? Children with cerebral palsy and their experience with physiotherapy.

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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.

OBJECTIVE: To evaluate the safety and clinical efficacy of nusinersen in patients older than 7 months with spinal muscular atrophy type 1 (SMA1). METHODS: Patients with SMA1 were treated with nusinersen by intrathecal injections as a part of the Expanded Access Program (EAP; NCT02865109). We evaluated patients before treatment initiation (M0) and at 2 months (M2) and 6 months (M6) after treatment initiation. Survival, respiratory, and nutritional data were collected. Motor function was assessed with the modified Hammersmith Infant Neurologic Examination Part 2 (HINE-2) and physiotherapist scales adjusted to patient age (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and the Motor Function Measure 20 or 32). RESULTS: We treated 33 children ranging in age from 8.3 to 113.1 months between December 2016 and May 2017. All patients were alive and were continuing treatment at M6. Median progress on the modified HINE-2 score was 1.5 points after 6 months of treatment (p < 0.001). The need for respiratory support significantly increased over time. There were no statistically significant differences between patients presenting with 2 and those presenting with 3 copies of the survival motor neuron 2 (SMN2) gene. CONCLUSIONS: Our results are in line with the phase 3 study for nusinersen in patients with SMA1 treated before 7 months of age and indicate that patients benefit from nusinersen even at a later stage of the disease. CLINICALTRIALSGOV IDENTIFIER: NCT02865109. CLASSIFICATION OF EVIDENCE: This study provides Class IV evidence that for patients with SMA1 who are older than 7 months, nusinersen is beneficial

Ecological Assessment of Clinicians' Antipsychotic Prescription Habits in Psychiatric Inpatients: A Novel Web- and Mobile Phone-Based Prototype for a Dynamic Clinical Decision Support System

International audienceBackground: Electronic prescribing devices with clinical decision support systems (CDSSs) hold the potential to significantly improve pharmacological treatment management. Objective: The aim of our study was to develop a novel Web- and mobile phone-based application to provide a dynamic CDSS by monitoring and analyzing practitioners' antipsychotic prescription habits and simultaneously linking these data to inpatients' symptom changes. Methods: We recruited 353 psychiatric inpatients whose symptom levels and prescribed medications were inputted into the MEmind application. We standardized all medications in the MEmind database using the Anatomical Therapeutic Chemical (ATC) classification system and the defined daily dose (DDD). For each patient, MEmind calculated an average for the daily dose prescribed for antipsychotics (using the N05A ATC code), prescribed daily dose (PDD), and the PDD to DDD ratio. Results: MEmind results found that antipsychotics were used by 61.5% (217/353) of inpatients, with the largest proportion being patients with schizophrenia spectrum disorders (33.4%, 118/353). Of the 217 patients, 137 (63.2%, 137/217) were administered pharmacological monotherapy and 80 (36.8%, 80/217) were administered polytherapy. Antipsychotics were used mostly in schizophrenia spectrum and related psychotic disorders, but they were also prescribed in other nonpsychotic diagnoses. Notably, we observed polypharmacy going against current antipsychotics guidelines. Conclusions: MEmind data indicated that antipsychotic polypharmacy and off-label use in inpatient units is commonly practiced. MEmind holds the potential to create a dynamic CDSS that provides real-time tracking of prescription practices and symptom change. Such feedback can help practitioners determine a maximally therapeutic drug treatment while avoiding unproductive overprescription and off-label use