Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.

Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.

Musculoskeletal Issues in Children and Adolescents: Adolescent Idiopathic Scoliosis.

Adolescent idiopathic scoliosis (AIS) is the most common type of scoliosis in children older than 10 years in the United States. AIS is defined as a lateral spine curvature of 10° or more in the coronal plane, without congenital or neuromuscular comorbidities. The U.

Evaluation and management of dyspnea as the dominant presenting feature in neuromuscular disorders.

Dyspnea is a common symptom in neuromuscular disorders and, although multifactorial, it is usually due to respiratory muscle involvement, associated musculoskeletal changes such as scoliosis or, in certain neuromuscular conditions, cardiomyopathy. Clinical history can elicit symptoms such as orthopnea, trepopnea, sleep disruption, dysphagia, weak cough, and difficulty with secretion clearance. The examination is essential to assist with the diagnosis of an underlying neurologic disorder and determine whether dyspnea is from a cardiac or pulmonary origin.

Topical vancomycin powder for the prevention of surgical site infections in spinal deformity surgery: a systematic review and meta-analysis.

Purpose: To assess the effectiveness and safety of topical vancomycin powder (VP) in preventing surgical site infections (SSIs) in spinal deformity surgeries.

Methods: A literature search was conducted on Web of Science, PubMed, and Cochrane Library databases for comparative studies of VP in spinal deformity surgeries published before February 2024. Two reviewers independently screened eligible articles based on the inclusion and exclusion criteria, assessed study quality, and extracted data.

Incidence of Parental Requests to Discontinue Growth-Friendly Surgical Lengthening for Early Onset Scoliosis.

Background: The STOP questionnaire was developed to document reasons for discontinuation of growth-friendly (GF) treatment in early onset scoliosis (EOS). This study investigated the incidence of parental request (PR) on the STOP questionnaire and compared clinical information and Early Onset Scoliosis 24-Item Questionnaire (EOSQ-24) scores of PR patients with those whose parents did not request discontinuation (non-parent request [NPR]).

Materials And Methods: An international pediatric spine registry was queried for EOS patients with STOP questionnaires completed by their surgeon.

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.

Background: LAMA2-related muscular dystrophy (LAMA2-MD) and SELENON-related myopathy (SELENON-RM) are two rare neuromuscular diseases characterized by proximal and axial muscle weakness, scoliosis, spinal rigidity, low bone quality and respiratory impairment. Cardiac involvement has previously been described in retrospective studies and case reports, but large case series and prospective studies in unselected cohorts are lacking.

Objective: The objective of this study is to conduct prevalence estimations, perform cardiac phenotyping, and provide recommendations for clinical care.

Adoption of an Enhanced Recovery after Surgery Protocol for Neuromuscular Scoliosis Shortens Length of Hospital Stay.

Introduction: We aimed to implement the enhanced recovery after surgery (ERAS) protocol for pediatric neuromuscular scoliosis (NMS) surgery and to examine the effectiveness of this program in this study.

Methods: Subjects were children with NMS who underwent scoliosis surgery at our department by a surgeon using a single posterior approach. A series of 27 cases before the introduction of ERAS and 27 cases during program stabilization were included in the study.

Factors Associated With Unplanned Readmissions and Prolonged Length of Stay in Patients Undergoing Primary Fusion for Congenital Scoliosis.

Background: Approximately 50% of patients with congenital scoliosis will require surgical treatment to prevent further progression. Outcomes following congenital scoliosis are sparse in the literature. The purpose of this study was to identify independent risk factors associated with unplanned readmission and prolonged length of stay (LOS) in patients undergoing primary surgical treatment for congenital scoliosis.

Unveiling the adverse events of Nusinersen in spinal muscular atrophy management based on FAERS database.

This study aims to collect and analyze adverse event (AE) reports related to Nusinersen from the FAERS database. The study employed a combination of signal quantification techniques, including the Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Multi-item Gamma Poisson Shrinker (MGPS), to enhance the accuracy of signal detection and reduce the risk of false positives or negatives. Between the first quarter of 2017 and the third quarter of 2023, the FAERS database collected a total of 11,485,105 drug AE reports, of which 5772 were related to Nusinersen.

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study.

Background: SMA is a hereditary neuromuscular disease that causes progressive muscle weakness and atrophy. Several studies have shown that the burden of SMA is very high at many levels. Functional assessment tools currently used do not completely address the impact of the disease in patients' life.