Children and adolescents with neuromuscular scoliosis usually undergo severe challenges with their respiratory and locomotor systems during growth. Early onset scoliotic deformities take a whole team of specialists to ease the problematic side effects associated with poor posture and seating abilities. Wheelchairs and seating shells need to be adjusted as does suitable bracing for the collapsing spine. Key issues are the maintenance of proper lung function and upright sitting in the wheelchair or seating shell. Although spine bracing can be helpful and has its place in seating, the natural history of progression in neuromuscular curvatures is rarely sustainably stopped. While bracing is sometimes not tolerated by patients with severe hypotonic thoracic collapse and breathing issues, it can otherwise buy time for some patients to gain height and weight before surgical intervention inevitably takes place.
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http://dx.doi.org/10.1007/s00132-021-04137-1 | DOI Listing |
Rev Esp Patol
January 2025
Laboratory of Genomics and Human Genetics, Pasteur Institute of Morocco, Casablanca, Morocco. Electronic address:
Early-onset Myopathy, Areflexia, Respiratory Distress and Dysphagia (EMARDD) is a congenital neuromuscular disease with a progressive muscle weakness, respiratory failure, joint contractures, and scoliosis without any symptoms of functional brain anomalies caused by variants in the MEGF10 gene. Here, we report the clinical phenotype and genetic features of a Moroccan patient who carries a novel variant associated with EMARDD on the MEGF10 gene. The Whole Exome Sequencing analysis conducted on a 11 year old boy with respiratory and swallowing difficulties revealed the presence of the novel variant c.
View Article and Find Full Text PDFSpine Deform
January 2025
Department of Orthopaedic Surgery, Scottish Rite Hospital for Children, Dallas, TX, USA.
Purpose: The etiology of early-onset scoliosis (EOS) has been shown to significantly influence baseline parent-reported health-related quality of life (HrQOL). In combining these etiology groups, we obligatorily lump together many disparate diagnoses, particularly true in the neuromuscular (NM) cohort. We sought to evaluate the influence of underlying neuromuscular diagnosis on the HrQOL at 5 years following surgery for EOS.
View Article and Find Full Text PDFGlobal Spine J
January 2025
Department of Orthopaedics, University Clinic Heidelberg, Heidelberg, Germany.
Study Design: Retrospective Cohort Study.
Objectives: Flexibility radiographs such as traction or bending radiographs are essential in preoperative imaging to assess for curve flexibility and to estimate the amount of operative correction in order to determine the type and length of instrumentation in growth-accompanying scoliosis treatment. Both traction and bending radiographs are controversially discussed in the literature.
J Clin Med
January 2025
Jackie and Gene Autry Children's Orthopedic Center, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA.
Postoperative ileus, the temporary cessation of gastrointestinal motility leading to accumulation of fluid and gas in the bowel, is a common complication following posterior spine fusion (PSF) in patients with neuromuscular scoliosis (NMS). Abdominal radiographs (KUBs) are often ordered to differentiate between ileus and mechanical obstruction but expose patients to radiation, add cost, and may lead to unnecessary work up. The aim of this study was to determine how often KUBs led to a change in treatment after PSF in patients with NMS.
View Article and Find Full Text PDFBrain Dev
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Chongqing, China. Electronic address:
Background: Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.
Methods: Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.
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