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This study, which focuses on the follow-up of respiratory failure in neuromuscular patients, highlights the need to improve the supply of care and to compensate for gaps in care. Advanced practice nurses (APNs) as part of a multidisciplinary approach, could be the missing link. Improving the management of neuromuscular disorders is a key concern for the Filnemus neuromuscular rare disease network, the reference centers and the AFM-Téléthon. This is also where the need for an APN specialized in neuromuscular disorders is being discussed, and which could meet needs that are not covered, or are insufficiently covered, in the healthcare pathway., (© 2024 médecine/sciences – Inserm.)

Objectives: Guillain-Barré syndrome (GBS) and myasthenia gravis (MG) are the most common causes of acute neuromuscular respiratory failure resulting in ICU admission. This synthetic narrative review summarizes the evidence for the prediction and management of acute neuromuscular respiratory failure due to GBS and MG., Data Sources: We searched PubMed for relevant literature and reviewed bibliographies of included articles for additional relevant studies., Study Selection: English-language publications were reviewed., Data Extraction: Data regarding study methodology, patient population, evaluation metrics, respiratory interventions, and clinical outcomes were qualitatively assessed., Data Synthesis: No single tool has sufficient sensitivity and specificity for the prediction of acute neuromuscular respiratory failure requiring mechanical ventilation. Multimodal assessment, integrating history, examination maneuvers (single breath count, neck flexion strength, bulbar weakness, and paradoxical breathing) and pulmonary function testing are ideal for risk stratification. The Erasmus GBS Respiratory Insufficiency Score is a validated tool useful for GBS. Noninvasive ventilation can be effective in MG but may not be safe in early GBS. Airway management considerations are similar across both conditions, but dysautonomia in GBS requires specific attention. Extubation failure is common in MG, and early tracheostomy may be beneficial for MG. Prolonged ventilatory support is common, and good functional outcomes may occur even when prolonged ventilation is required., Conclusions: Multimodal assessments integrating several bedside indicators of bulbar and respiratory muscle function can aid in evidence-based risk stratification for respiratory failure among those with neuromuscular disease. Serial evaluations may help establish a patient's trajectory and to determine timing of respiratory intervention., Competing Interests: Dr. Mobach received funding from Biogen, Amylyx, Mitsubishi Tanabe, and Quralis. Dr. Rabinstein serves on the Clinical Events Classification committee for Boston Scientific and serves on advisory boards for Astra Zeneca, Shionogi, Brainomix, and Chiesi. The remaining authors have disclosed that they do not have any potential conflicts of interest., (Copyright © 2024 by the Society of Critical Care Medicine and Wolters Kluwer Health, Inc. All Rights Reserved.)

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. Specific attention should be given to possible muscle loss, use of accessory muscles of breathing, difficulty with neck flexion/extension, presence of thoraco-abdominal paradox, conversational dyspnea, cardiac examination, and should include a detailed neurological examination directed at the suspected differential diagnosis. Pulmonary function testing including sitting and supine spirometry, measures of inspiratory and expiratory muscle strength, cough peak flow, sniff nasal inspiratory pressure, pulse oximetry, transcutaneous CO 2 , and arterial blood gases will help determine the extent of the respiratory muscle involvement, assess for hypercapnic or hypoxemic respiratory failure, and qualify the patient for noninvasive ventilation when appropriate. Additional testing includes dynamic imaging with sniff fluoroscopy or diaphragm ultrasound, and diaphragm electromyography. Polysomnography is indicated for sleep related symptoms that are not otherwise explained. Noninvasive ventilation alleviates dyspnea and nocturnal symptoms, improves quality of life, and prolongs survival. Therapy targeted at neuromuscular disorders may help control the disease or favorably modify its course. For patients who have difficulty with secretion clearance, support of expiratory function with mechanical insufflation-exsufflation, oscillatory devices can reduce the aspiration risk., (© 2024 by the American Association of Neuromuscular & Electrodiagnostic Medicine, Inc. All rights reserved.)

Dyspnea, the subjective sensation of breathlessness, is a distressing and potentially traumatic symptom. Dyspnea associated with mechanical ventilation may contribute to intensive care unit (ICU) associated post-traumatic stress disorder and impaired quality of life. Dyspnea is both difficult to alleviate and a cause of significant distress to patients, their loved ones, and care providers People living with neuromuscular disease, such as amyotrophic lateral sclerosis (ALS) or myasthenia gravis (MG), often rely on a ventilator at late stages of illness due to complications of progressive respiratory muscle weakness and paralysis. When unable to wean from the ventilator, conversations turn towards goals of care and release from the ventilator for comfort and end of life (EOL). Patients with and without neuromuscular disease have high risk for dyspnea at EOL upon ventilator liberation. Although limited recommendations have been published specific to patients with ALS, no guidelines currently exist for the terminal liberation from mechanical ventilation in patients experiencing respiratory muscle insufficiency from a neuromuscular disease. Further research on this topic is needed, including creation of a protocol for ventilator release in patients with neuromuscular disease. The following case reports detail the dissimilar EOL experiences of two patients with different forms of neuromuscular disease., (Copyright © 2024 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.)

Background: Neuromuscular early-onset scoliosis (N-EOS) often presents with a long sweeping thoracolumbar scoliosis and pelvic obliquity. With severe pelvic obliquity, the ribs come into contact with the high side of the pelvis, termed rib-on-pelvis deformity (ROP). The goal of this study is to evaluate whether ROP is associated with reported pain and other health-related quality of life (HRQOL) measures. We hypothesize that ROP is associated with increased pain and negative HRQOL., Methods: A multicenter international registry was queried for all nonambulatory patients with N-EOS from 2012 to 2022. Both surgical and nonsurgical patients were included. ROP was classified as a binary radiographic assessment of preoperative (surgical patients) and most recent follow-up (nonsurgical patients) upright radiographs. Reported pain and other HRQOL measures were assessed through the 24-Item Early Onset Scoliosis Questionnaire (EOSQ-24). Patients with nonupright radiographs or EOSQ-24 questionnaires and corresponding radiographs >4 months apart were excluded., Results: Totally, 225 patients (8.4±3.1 y, 55% female) were included. The median major curve was 63.3 (IQR: 40.6 to 81.2) degrees and median pelvic obliquity was 15.5 degrees (IQR: 8.8 to 26.4). Eighty-three patients (37%) had ROP. ROP was associated with both frequency ( P <0.001) and severity ( P <0.001) of pain. ROP was associated with worse general health ( P =0.01), increased difficulty with vocalization ( P =0.02), increased frequency of shortness of breath ( P =0.002), and increased difficulty sitting upright ( P =0.04). Regarding overall EOSQ-24 domains, ROP was associated with worse general health, pain/discomfort, pulmonary function, and physical function ( P <0.01). In a subanalysis of 76 patients who underwent surgical intervention with at least 2 years of follow-up, patients with preoperative ROP experienced significantly greater improvements in both frequency ( P =0.004) and severity ( P =0.001) of pain than the patients without preoperative ROP at 2 years postoperatively., Conclusions: The overall incidence of ROP in N-EOS is about 37%. ROP is associated with greater pain and worse HRQOL through the EOSQ-24 questionnaire. Furthermore, these patients experienced a greater reduction in pain after surgery. Clinicians and parents must be aware that ROP is possibly a pain generator, but responds positively to surgical intervention., Level of Evidence: Level III., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Acute flaccid myelitis (AFM) is a rare debilitating poliomyelitis-like illness characterized by the sudden onset of flaccid palsy in the extremities. The purpose of this study was to report the mid-term clinical course of knee extension in AFM and the effect of contralateral obturator nerve-to-femoral nerve transfer (CONFNT) for restoration of knee extension in AFM., Methods: Twenty-six patients with lower extremity palsy due to AFM were referred to our clinic for possible surgical reconstruction. Their median age was 4.0 years, and the first evaluation of the palsy was done at a mean of 6 months after paralysis onset. The paralysis ranged from lower limb monoplegia to quadriplegia. The clinical course of knee extension was assessed using the British Medical Research Council (MRC) grading scale and surface electromyography (EMG). Five patients with unilateral paralysis of knee extension underwent CONFNT., Results: The mean follow-up period for 19 limbs with complete paralysis of knee extension (MRC grade M0) in 13 patients who were evaluated for spontaneous recovery was 43 months. No patient who had complete paralysis of knee extension at >6 months and paralysis of the hip adductor muscle had improvement of knee extension to better than M2. Five of the original 26 patients were treated with CONFNT and followed for a mean of 61 months. Two of 5 patients had the CONFNT ≤8 months after paralysis onset and obtained M4 knee extension. Only 1 of the 3 patients with CONFNT performed approximately 12 months after paralysis onset obtained M3 knee extension; the other 2 obtained only M1 or M2 knee extension., Conclusions: The paralysis of the lower extremity in our patients with AFM was similar to that in poliomyelitis. However, in AFM, spontaneous recovery of knee extension was possible if there were signs of recovery from hip adductor paralysis up to 6 months after paralysis onset. CONFNT may enhance the recovery of knee extension and seems to be a reliable reconstruction for restoring knee extension if performed no more than 8 months after paralysis onset., Level of Evidence: Therapeutic Level IV . See Instructions for Authors for a complete description of levels of evidence., Competing Interests: Disclosure: No external funding was received for this study. The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article ( http://links.lww.com/JBJS/I47 )., (Copyright © 2024 by The Journal of Bone and Joint Surgery, Incorporated.)

The aim of this study was to determine the potential cognitive impairment associated with motor disability in a group of children attending regular schools and to analyze whether there were different cognitive profiles according to the type of motor disability they presented. The study had 87 participants, 31 healthy and 56 with three types of motor disability: Neuromuscular Diseases (NMD Group), Cerebral Palsy-Hemiparesis (CP- HPx Group) and Cerebral Palsy-Diplegia (CP-DP). Ages ranged from 6 to 18 years and they had medium and medium-high socioeconomic and cultural levels. All participants attended regular state-funded and independent schools in an inclusive modality. The neuropsychological assessment included the following cognitive domains: processing speed, working memory, verbal and visual episodic memory, language, visuo-perception and constructive praxis and executive functioning. A second analysis was performed with the groups with CP: one based on the severity of gross motor impairment (GMFCS-E&R scale) and the other based on the levels of manual dexterity (MACS scale). ANCOVAs were performed controlling for age and processing speed in the three analyses. The group with CP-HPx was shown to be the most cognitively impaired of the three groups, with significant deficits in visuo-perception, verbal working memory, and visuo-spatial memory. Subjects with greater gross motor dysfunction (GMFCS-E&R) did not show the greatest cognitive impairment, while those with worse manual dexterity (MACS) exhibited greater cognitive impairment. Children and adolescents with motor disabilities, a priori cognitively normal, present different levels of cognitive impairment. This should be considered when planning educational adaptations for this infant-juvenile population.

Although not often discussed, many of the neuromuscular disorders (NMDs) affect the gastrointestinal tract (GIT). Depending on the type of NMD, the prevalence of GIT involvement ranges from <5% (e.g. hereditary neuropathies, myofibrillar myopathies) to 100% (e.g. MNGIE, OPMD). Particularly in NMDs with multisystem affection, involvement of the GIT can dominate the clinical presentation or at least make up a significant part of the clinical picture. The most prominent representatives of NMDs with multisystem involvement are the mitochondrial disorders (MIDs) and the myotonic dystrophies. The best known syndromic MIDs with GIT involvement are MNGIE, MELAS, Leigh, and Pearson syndromes. Among neuropathies, GIT involvement is most commonly found in ALS and GBS. GIT involvement may also be a feature of myasthenia. The clinical manifestations of GIT involvement are diverse and can affect the entire GIT, from the teeth to the rectum, including the liver and pancreas. The most well-known clinical manifestations of GIT involvement are dysphagia, nausea, vomiting, reflux, hollow organ dysmotility, hepatopathy, diabetes, diarrhea, constipation, and fecal incontinence. Even if treatment can usually only be symptomatic, the therapeutic options are diverse, are often effective, and can significantly and beneficially influence the course of the underlying NMD., (© 2024 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia, Ltd.)

The prevalence of sleep disorders (SD) is notoriously increased in children with chronic neurological disease, with a negative bidirectional link that aggravates their symptomatology and has a negative impact on the quality of life of the child and their families. Identifying and recognizing this association is key for the child neurologist since the treatment of SD significantly improves daytime symptomatology in neurodevelopmental disorders, epilepsy, primary headaches, cerebral palsy and neuromuscular diseases.

Objectives: Poor sleep is frequently reported in children with neuromuscular diseases (NMD) and cerebral palsy (CP) however breathing disorders during sleep are often the clinical focus. Periodic limb movements (PLMs) have an increased prevalence in adults with NMD and may contribute to sleep disturbance in this population. We assessed the prevalence of PLMs in children with NMD or CP., Methods: Retrospective review of polysomnography (PSG) with leg electromyography in children age 1-18 years with NMD (including Duchenne muscular dystrophy, myotonic dystrophy, spinal muscular atrophy) or CP performed at a paediatric sleep centre 2004-2022., Results: Leg electromyography was available in at least 1 PSG in 239 children (125 NMD, 114 CP), and in 2 PSGs in 105 children (73 NMD, 32 CP). At initial PSG, 72 (30 %) were female with a median age 9y and respiratory disturbance index 3.5/h (interquartile range 1.3-9.9/h). Elevated PLM index (PLMI; >5/h) occurred in 9.6 % of each of the CP and NMD groups, quantified by initial PSG. Overall, PLMI increased from baseline (median 0, maximum 33/h) to follow-up (median 0, maximum 55.8/h; p < 0.05). In those with an elevated PLMI, arousal percentage attributable to PLMs was up to 25 % (median 7.5 %)., Conclusions: Elevated PLMI occurred at a higher prevalence in children with NMD and CP than reported in other clinic-referred paediatric populations. It is important that PLMs are not overlooked as identification and treatment may help improve sleep outcomes. Further research is required to understand the pathophysiology and consequences of PLMs specifically in this population., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Respiratory sequelae are a frequent cause of morbidity and mortality in children with NMD. Impaired cough strength and resulting airway clearance as well as sleep disordered breathing are the two main categories of respiratory sequelae. Routine clinical evaluation and diagnostic testing by pulmonologists is an important pillar of the multidisciplinary care required for children with NMD. Regular surveillance for respiratory disease and timely implementation of treatment including pulmonary clearance techniques as well as ventilation can prevent respiratory related morbidity including hospital admissions and improve survival. Additionally, novel disease modifying therapies for some NMDs are now available which has significantly improved the clinical trajectories of patients resulting in a paradigm shift in clinical care. Pulmonologists are 'learning' the new natural history for these diseases and adjusting clinical management accordingly., Competing Interests: Disclosure The authors have indicated they have no potential conflicts of interest to disclose., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Dysphagia is commonly associated with neurologic/neuromuscular disorders including prematurity, cerebral palsy, traumatic brain injury, brain tumors, genetic disorders, and neuromuscular diseases. This article aims to review the major categories of neurologic dysphagia, to outline specific findings and special considerations for each population, and to acknowledge the importance of integrating each patient's medical prognosis, goals of care, and developmental stage into a multidisciplinary treatment plan., Competing Interests: Disclosure The authors have no financial disclosures or conflicts of interest., (Copyright © 2024 Elsevier Inc. All rights reserved.)

In recent decades, the patient survival is increased due to advances in intensive care units and development of modern mechanic ventilators. Unfortunately, it is not always possible to wean these children from mechanical ventilation. Recently, after placement a tracheostomy tube, these children can be supported at home with noninvasive or invasive mechanical ventilation. Most of the children who need ventilation support at home have neurological impairment. The nutritional issues and gastrointestinal (GI) complications are well defined in critically ill patients, but there are very limited studies on children with tracheostomy. Considering that majority of the patients have neuromuscular disorders, the nutritional and GI problems of the children with tracheostomy are discussed in light of the knowledge of critically ill patients., (© 2023 The Authors. Pediatric Pulmonology published by Wiley Periodicals LLC.)

Hypercapnic respiratory failure arises due to an imbalance in the load-capacity-drive relationship of the respiratory muscle pump, typically arising in patients with chronic obstructive pulmonary disease, obesity-related respiratory failure, and neuromuscular disease. Patients at risk of developing chronic respiratory failure and those with established disease should be referred to a specialist ventilation unit for evaluation and consideration of home noninvasive ventilation (NIV) initiation. Clinical trials demonstrate that, following careful patient selection, home NIV can improve a range of clinical, patient-reported, and physiological outcomes. This narrative review provides an overview of the pathophysiology of chronic respiratory failure, evidence-based applications of home NIV, and monitoring of patients established on home ventilation and describes technological advances in ventilation devices, interfaces, and monitoring to enhance comfort, promote long-term adherence, and optimise gas exchange., Competing Interests: RFD has received consulting fees from Astra Zeneca, ResMed, Aerogen, and Fisher and Paykel. LT, PN, and EG declare that they have no conflicts of interest., (Copyright © 2024 Laura Tregidgo et al.)

Scoliosis is a common complication of neuromuscular disorders. These patients are frequently recalcitrant to nonoperative treatment. When treated surgically, they have the highest risk of complications of all forms of scoliosis. While recent studies have shown an improvement in the rate of complications, they still remain high ranging from 6.3 to 75% depending upon the underlying etiology and the treatment center (Mohamad et al. in J Pediatr Orthop 27:392-397, 2007; McElroy et al. in Spine, 2012; Toll et al. in J Neurosurg Pediatr 22:207-213, 2018; Cognetti et al. in Neurosurg Focus 43:E10, 2017). For those patients who are able to recover from the perioperative period without major complications, several recent studies have shown decreased long-term mortality and improved health-related quality of life in neuromuscular patients who have undergone spine fusion (Bohtz et al. in J Pediatr Orthop 31:668-673, 2011; Ahonen et al. in Neurology 101:e1787-e1792, 2023; Jain et al. in JBJS 98:1821-1828, 2016). It is critically important to optimize patients preoperatively to minimize the risk of post-operative complications and maximize long-term outcomes. In order to do so, one must familiarize themselves with the common complications and their treatment. The most common complications are pulmonary in nature. With reported rates as high as 23-29%, pre-operative optimization should be employed for these patients to minimize the risk of post-operative complications (Sharma et al. in Eur Spine J 22:1230-1249, 2013; Rumalla et al. in J Neurosurg Spine 25:500-508, 2016). The next most common cause of complications are implant related, with 13-23% of patients experiencing an implant-related complication that may require a second procedure (Toll et al. in J Neurosurg Pediatr 22:207-213, 2018; Sharma et al. in Eur Spine J 22:1230-1249, 2013) Therefore optimization of bone quality prior to surgical intervention is important to help minimize the risk of instrumentation failure. Optimization of muscle tone and spasticity may help to decrease the risk of instrumentation complications, but may also contribute to the progression of scoliosis. While only 3% of patients have neurologic complication, significant equipoise remains regarding whether or not patients should undergo prophylactic detethering procedures to minimize those risks (Sharma et al. in Eur Spine J 22:1230-1249, 2013). Although only 1.8% of complications are classified as cardiac related, they can be among the most devastating (Rumalla et al. in J Neurosurg Spine 25:500-508, 2016). Simply understanding the underlying etiology and the potential risks associated with each condition (i.e., conduction abnormalities in a patient with Rett syndrome or cardiomyopathies patients with muscular dystrophy) can be lifesaving. The following article is a summation of the half day course on neuromuscular scoliosis from the 58th annual SRS annual meeting, summarizing the recommendations from some of the world's experts on medical considerations in surgical treatment of neuromuscular scoliosis., (© 2024. The Author(s), under exclusive licence to Scoliosis Research Society.)

Background and Objectives: Children with chronic neuromuscular conditions (CCNMC) have many coexisting conditions and often require musculoskeletal surgery for progressive neuromuscular scoliosis or hip dysplasia. Adequate perioperative optimization may decrease adverse perioperative outcomes. The purpose of this scoping review was to allow us to assess associations of perioperative health interventions (POHI) with perioperative outcomes in CCNMC., Methods: Eligible articles included those published from January 1, 2000 through March 1, 2022 in which the authors evaluated the impact of POHI on perioperative outcomes in CCNMC undergoing major musculoskeletal surgery. Multiple databases, including PubMed, Embase, Cumulative Index of Nursing and Allied Health Literature, Web of Science, the Cochrane Library, Google Scholar, and ClinicalTrials.gov, were searched by using controlled vocabulary terms and relevant natural language keywords. Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines were used to perform the review. A risk of bias assessment for included studies was performed by using the Risk of Bias in Non-randomized Studies of Interventions tool., Results: A total of 7013 unique articles were initially identified, of which 6286 (89.6%) were excluded after abstract review. The remaining 727 articles' full texts were then reviewed for eligibility, resulting in the exclusion of 709 (97.5%) articles. Ultimately, 18 articles were retained for final analysis. The authors of these studies reported various impacts of POHI on perioperative outcomes, including postoperative complications, hospital length of stay, and hospitalization costs. Because of the heterogeneity of interventions and outcome measures, meta-analyses with pooled data were not feasible., Conclusions: The findings reveal various impacts of POHI in CCNMC undergoing major musculoskeletal surgery. Multicenter prospective studies are needed to better address the overall impact of specific interventions on perioperative outcomes in CCNMC., (Copyright © 2024 by the American Academy of Pediatrics.)

Neuromuscular diseases (NMDs) comprise a heterogeneous group of conditions characterized by extreme progressive muscle weakness leading to respiratory failure. Noninvasive mechanical ventilation (NIV) has emerged as a cornerstone in the management of respiratory complications associated with NMDs. This review aims to elucidate the role of NMV in respiratory function, improving quality of life, and prolonging survival in individuals with NMD. The physiological basis of respiratory impairment in NMDs, principles of NMV application, evidence supporting its efficacy, patient selection criteria, and potential challenges in its application are discussed., (Copyright © 2024 Gaetano Conte Academy - Mediterranean Society of Myology.)

Objectives: The functions of eating, drinking, speaking, and breathing demand close coordination of the upper airway musculature which may be challenged by the long-term use of daytime non-invasive ventilation (NIV). This rapid review explores the challenges and practicalities of these interactions in people with neuromuscular disorders., Methods: A search was performed on PubMed (period 2000-2023) using generic terms to refer to eating, drinking, and speaking related to people with neuromuscular disorders on NIV. A narrative approach was used to summarize the available literature., Results: Our review shows only a small number of studies exist exploring the use of NIV on swallowing and speaking in people with neuromuscular disorders. We summarize study findings and provide practical advice on eating, drinking and speaking with NIV., Conclusions: By understanding breathing, NIV mechanics and upper airway interactions, it is possible to optimize swallowing and speaking whilst using NIV. There is a lack of specific guidelines, and concerns regarding aspiration warrant further research and guideline development., (Copyright © 2024 Gaetano Conte Academy - Mediterranean Society of Myology.)

Purpose: There is limited information on the clustering or co-occurrence of complications after spinal fusion surgery for neuromuscular disease in children. We aimed to identify the frequency and predictive factors of co-occurring perioperative complications in these children., Methods: In this retrospective database cohort study, we identified children (ages 10-18 years) with neuromuscular scoliosis who underwent elective spinal fusion in 2012-2020 from the National Surgical Quality Improvement Program-Pediatric database. The rates of co-occurring complications within 30 days were calculated, and associated factors were identified by logistic regression analysis. Correlation between a number of complications and outcomes was assessed., Results: Approximately 11% (709/6677 children with neuromuscular scoliosis undergoing spinal fusion had co-occurring complications: 7% experienced two complications and 4% experienced ≥ 3. The most common complication was bleeding/transfusion (80%), which most frequently co-occurred with pneumonia (24%) and reintubation (18%). Surgical time ≥ 400 min (odds ratio (OR) 1.49 [95% confidence interval (CI) 1.25-1.75]), fusion ≥ 13 levels (1.42 [1.13-1.79]), and pelvic fixation (OR 1.21 [1.01, 1.44]) were identified as procedural factors that independently predicted concurrent complications. Clinical risk factors for co-occurring complications included an American Society of Anesthesiologist physical status classification ≥ 3 (1.73 [1.27-2.37]), structural pulmonary/airway abnormalities (1.24 [1.01-1.52]), impaired cognitive status (1.80 [1.41-2.30]), seizure disorder (1.36 [1.12-1.67]), hematologic disorder (1.40 [1.03-1.91], preoperative nutritional support (1.34 [1.08-1.72]), and congenital malformations (1.20 [1.01-1.44]). Preoperative tracheostomy was protective against concurrent complications (0.62 [0.43-0.89]). Significant correlations were found between number of complications and length of stay, non-home discharge, readmissions, and death., Conclusion: Longer surgical time (≥ 400 min), fusion ≥ 13 levels and pelvic fixation are surgical risk factors independently associated with co-occurring complications, which were associated with poorer patient outcomes. Recognizing identified nonmodifiable risk factors might also be important for preoperative planning and risk stratification of children with neuromuscular scoliosis requiring spinal fusion., Level of Evidence: Level IV evidence., (© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.)

This review describes our institution's standardized technique as well as potential pitfalls for therapeutic steroid injections in children with symptomatic neuromuscular hip dysplasia. Symptomatic, painful neuromuscular hip dysplasia can dramatically affect quality of life. Steroid injections are used to identify the source of perceived pain, temporarily treat pain while awaiting surgical intervention, or for therapeutic management for nonoperative hip joints., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Pelvic fixation is commonly used in correcting pelvic obliquity in pediatric patients with neuromuscular scoliosis and in preserving stability in adult patients with lumbosacral spondylolisthesis or instances of traumatic or osteoporotic fracture. S2-alar-iliac screws are commonly used in this role and have been proposed to reduce implant prominence when compared to traditional pelvic fusion utilizing iliac screws. The aim of this technical note is to describe a technique for robotically navigated placement of S2-alar-iliac screws in pediatric patients with neuromuscular scoliosis, which (a) minimizes the significant exposure needed to identify a bony start point, (b) aids in instrumenting the irregular anatomy often found in patients with neuromuscular scoliosis, and (c) allows for greater precision than traditional open or fluoroscopic techniques. We present five cases that underwent posterior spinal fusion to the pelvis with this technique that demonstrate the safety and efficacy of this procedure., (© 2024. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

Introduction: Proximal femoral osteotomy is an important step in the management of paralytic hip dislocation. Fixation by the angled plate is demanding and carries the risk of many complications. In this study, we made certain modifications for the angled plate. Does this plate provide a stable fixation for proximal femoral varus osteotomy? The main objective of this study was to assess the results of the modified plate in fixation of proximal femoral varus osteotomy in patients with neuromuscular hip dislocation., Hypothesis: This new system would offer significant advantages over the existing systems in terms of easy application and stable fixation., Material and Methods: Twenty patients with paralytic hip dislocation were included in this study. The ages ranged from 5 to 15 years with a mean of 8.88±2.92 years. There were 12 boys and 8 girls. Seventeen patients had cerebral palsy and 3 had meningocele disease. Preoperative radiographs were done, and the migration percentage (MP), acetabular index (AI), and neck-shaft angle (NSA) were measured. All patients were treated with open reduction, pelvic osteotomy, and proximal femoral varus osteotomy. The femoral osteotomy was fixed by the modified angled plate in all cases., Results: The osteotomy sites united in all patients and the mean time of union was 2.9±0.65 months. The acetabular index, migration percentage, and neck-shaft angle were reduced postoperatively. This reduction was statistically significant. The hips remained stable throughout the period of follow-up in all patients. No cases were complicated by non-union or implant failure., Conclusion: The modified angled plate (canulated interlocking blade Plate 90°) is a good method for the fixation of proximal femoral varus osteotomy in the management of neuromuscular hip dislocation. It provides a stable fixation., Level of Evidence: IV; case series., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Purpose: Children and young adults with neuromuscular disorders have a high incidence of both spine and hip deformities. The aim of this study was to evaluate the outcome of either primary scoliosis or hip surgery in children and young adults with neuromuscular disorders., Methods: A retrospective study was conducted on all children and young adults with neuromuscular-related synchronous hip subluxation/dislocation and scoliosis undergoing hip or scoliosis surgery in our institution between 2012 and 2021 with a minimum follow-up of 24 months. Demographic and operative data were collected; radiological parameters were measured preoperatively and postoperatively at final follow-up., Results: Forty neuromuscular patients with synchronous hip displacement and scoliosis were included. Twenty patients with an average age of10.2 years had hip correction surgery performed primarily, with a mean follow-up of 54.9 (24-96) months. The other 20 patients with an average age of 12.4 years had scoliosis correction first, with a mean follow-up of 40 (24-60) months. In the "Hip first" group, pelvic obliquity, hip MP and Cobb angle were 16.8°, 71%, and 49°, respectively. At final follow-up, the mean pelvic obliquity and Cobb angles significantly progressed to 27.2° (p = 0.003) and 82.2° (p = 0.001), respectively. Eighteen patients (90%) required scoliosis correction after the hip surgery. In the "Scoliosis first" group, the mean pelvic obliquity, hip MP and Cobb angle were 21.2°, 49% and 65.5°, respectively. At final follow-up, both pelvic obliquity and Cobb angle significantly improved to 8.44° (p = 0.002) and 23.4° (p = 0.001), respectively. In 11/20 (55%) patients, the hip MP had significantly increased following the spinal surgery to 62% (p = 0.001), but only 5/20 (25%) patients underwent hip surgery after scoliosis correction., Conclusion: In neuromuscular patients presenting with synchronous hip displacement and scoliosis deformity, corrective scoliosis surgery is associated with a significant correction of pelvic obliquity and lower rates of secondary hip surgery. On the other hand, primary hip surgery does not reduce the risk of pelvic obliquity and scoliosis deformity progression., (© 2024. The Author(s), under exclusive licence to Scoliosis Research Society.)

Purpose: Planovalgus foot deformity (PVFD) is common in children with neuromuscular conditions and severe deformity may require surgical correction. This study aims to assess clinical and radiological outcomes of PVFD secondary to neuromuscular disease managed by subtalar arthroeresis (SuAE), midfoot soft tissue release and talo-navicular arthrodesis (TNA)., Methods: A retrospective analysis of children with neuromuscular disease and nonreducible PVFD who underwent SuAE, midfoot soft tissue release, and TNA and with a minimum follow-up of 5 years was performed. A total of 60 patients with neuromuscular disease (108 feet) including cerebral palsy were reviewed. Mean age at surgery was 12.7 ± 4.6 years (6-17). Mean follow-up was 7 ± 2.9 years (5-10). Clinical outcomes and radiologic correction at final follow-up were compared with preoperative values. Statistical analysis was performed and significance was set at P < 0.01., Results: Statistically significant radiological improvements between pre- and postoperative values were found for all angle values. At final follow-up, there was a significant improvement in VAS score (4.8 vs. 2; P < 0.01). There was also a positive trend in the improvement of walking ability. No cases of pseudoarthrosis were reported at final follow-up. Screw removal was required in 5 out of 108 feet (4.6%) and 2 feet (3.3%) had delayed medial wound healing., Conclusions: SuAE combined with TNA and midfoot soft tissue is a safe and feasible procedure that can provide good clinical and radiologic results in patients with neuromuscular disease and nonreducible PVFD; the procedure can improve foot stability, and has a limited number of complications., Level of Evidence: IV., (© 2024. The Author(s), under exclusive licence to Springer-Verlag France SAS, part of Springer Nature.)

Objective: To investigate the short-term benefits and adverse effects of ketamine in the treatment of pediatric and adolescent super-refractory status epilepticus (SRSE), with a focus on the inflammatory etiology., Methods: This retrospective observational cohort study included a consecutive series of 18 pediatric to adolescent patients with SRSE admitted between 2008 and 2023 and treated with ketamine. Seizure frequency per hour before and after ketamine administration and response rate were calculated. Neurological decline, catecholamine administration, and adverse effects were also assessed. The patients were divided into inflammatory and non-inflammatory etiology groups., Results: The median age at SRSE onset was 1 year 5 months (range: 11 days-24 years), and 78% of the patients were male individuals. The median duration of treatment was 7.5 days (interquartile range: 2.8-15.5 days). Fifteen (83%) patients achieved >50% seizure reduction. The median seizure frequency before and after ketamine treatment was 5.9 and 0.9, respectively, showing a significant reduction in seizure frequency (p < 0.0001). Ten patients had inflammatory etiologies including bacterial meningitis (n = 2), viral encephalitis (n = 3), and febrile infection related epilepsy syndrome (n = 5). The inflammatory etiology group required a longer treatment duration (p = 0.0453) and showed lower seizure reduction (p = 0.0264), lower response rate (p = 0.0044), and higher neurological decline (p = 0.0003) than the non-inflammatory etiology group. Three (17%) patients experienced transient adverse events requiring intervention within 24 h of initiating ketamine administration., Conclusions: Ketamine administration was associated with fewer serious adverse events and a reduced seizure frequency. Additionally, inflammatory conditions may weaken the efficacy of ketamine in patients with SRSE., Competing Interests: Declaration of Competing interest None., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Based on a recent review by Krohn et al, the respiratory center and its regulatory mechanisms are described. Although the respiratory control centers in the medulla and pons ensure rhythmic respiration, maintaining and regulating respiration involves a complex network of peripheral chemoreceptors, vagal nerves, and central chemoreceptors. This review discusses the pathophysiology of respiratory disorders in neuromuscular diseases and evaluation and treatment methods based on the anatomy of the respiratory network.

Objectives: Neuromuscular disorders could have respiratory involvement early or late into illness. Rarely, patients may present with a hypercapnic respiratory failure (with minimal motor signs) unmasking an underlying disease. There are hardly any studies which have addressed the spectrum and challenges involved in management of this subset, especially in the real-world scenario., Methods: A retrospective study comprising consecutive patients hospitalized with hypercapnic respiratory failure as the sole/dominant manifestation. The clinical-electrophysiological spectrum, phrenic conductions, diaphragm thickness, and outcomes were analyzed., Results: Twenty-seven patients were included, the mean age was 47.29 (SD 15.22) years, and the median duration of respiratory symptoms was 2 months (interquartile range [IQR] 1-4). Orthopnea was present in 23 patients (85.2%) and encephalopathy in 8 patients (29.6%). Phrenic nerve latencies and amplitudes were abnormal in 83.3% and 95.6%, respectively. Abnormal diaphragm thickness was noted in 78.5%. Based on a comprehensive electrophysiological strategy and paraclinical tests, an etiology was established in all. Reversible etiologies were identified in 17 patients (62.9%). These included myasthenia gravis (anti-AChR and MuSK), inflammatory myopathy, riboflavin transporter deficiency neuronopathy, Pompe disease, bilateral phrenic neuritis, and thyrotoxicosis. Respiratory onset motor neuron disease was diagnosed in 8 patients (29.6%). Despite diaphragmatic involvement, a functional respiratory recovery was noted at discharge (45%) and last follow-up (60%). Predictors for good outcomes included female sex, normal nerve conductions, and recent-onset respiratory symptoms., Discussion: A good functional recovery was noted in most of the patients including respiratory onset motor neuron disease. A systematic algorithmic approach helps in proper triaging, early diagnosis, and treatment. Clinical and electrodiagnostic challenges and observations from a tertiary care referral center are discussed., Competing Interests: The authors report no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: To determine caregiver-reported back pain prevalence, disability, pain interference, and associations with curve magnitude in early onset scoliosis (EOS) using the Oswestry Disability Index (ODI) and Patient Reported Outcome Measurement Information Systems (PROMIS) measures., Methods: A single-center, retrospective review was performed in children below 10 years of age according to EOS etiology. Caregiver-reported back pain prevalence, ODI, PROMIS Pain Interference, Mobility, and Anxiety measures, and curve magnitude were recorded as part of routine clinic appointments., Results: A total of 1212 patients with EOS (588 idiopathic, 295 congenital, 217 neuromuscular, 112 syndromic) ages 6.6 ± 2.7 were included; 23% had caregiver-reported back pain. Neuromuscular EOS patients had the highest prevalence of back pain (29%). ODI scores were higher in neuromuscular (48%) and syndromic (35%) patients than congenital (20%, p < 0.05) and idiopathic (16%, p < 0.01) patients. Neuromuscular patients also had higher PROMIS Pain Interference scores (53.3) compared to idiopathic (41.6, p < 0.001) and syndromic (45.0, p = 0.016) patients. A higher curve was associated with the presence of back pain (39° vs. 30°, p < 0.001) and had positive correlations with ODI scores (r = 0.38, p < 0.001) and PROMIS Pain Interference scores (r = 0.34, p < 0.001)., Conclusion: Approximately one in five children with EOS under the age of 10 have caregiver-reported back pain, with the neuromuscular EOS type exhibiting higher pain prevalence, interference, and disability scores. Larger curve magnitude is associated with an increased prevalence of caregiver-reported back pain, increased disability, and increased pain interference., Level of Evidence: 3 - case-control study., (© 2023. The Author(s), under exclusive licence to Scoliosis Research Society.)

Background: Sleep-disordered breathing (SDB) is common in patients with neuromuscular diseases (NMD). Focusing on hypercapnia may lead to the neglect of other SDB such as obstructive and/or central sleep apnea syndrome (SAS). Our objectives were to assess the risk of inappropriate SDB management according to different screening strategies and to evaluate the prevalence and determinants of isolated and overlapping sleep apnea in patients with slowly progressive NMD., Methods: This monocentric, cross-sectional, retrospective study analyzed medical records of adult NMD patients referred to a sleep department. Diagnostic strategies, including respiratory polygraphy (RP), nocturnal transcutaneous capnography (tcCO2), and blood gases (BG), were assessed for their performance in diagnosing SDB. Demographics and pulmonary function test results were compared between patients with or without SDB to identify predictors., Results: Among the 149 patients who underwent a full diagnostic panel (RP + tcCO2 + BG), 109 were diagnosed with SDB. Of these, 33% had isolated SAS, and central apneas were predominant. Using single diagnostic strategies would lead to inappropriate SDB management in two thirds of patients. A combination of 2 diagnostic tools resulted respectively in 21.1, 22.9 and 42.2 % of inappropriate SDB management for RP + tcCO2, RP + BG and tcCO2 + BG., Conclusion: The significant prevalence of sleep apnea syndrome in patients with slowly progressive NMD highlights the need for increased awareness among clinicians. Improved diagnostics involve a systematic approach addressing both sleep apnea and diurnal and nocturnal alveolar hypoventilation to avoid inappropriate management and limit the consequences of SDB., Competing Interests: Declaration of competing interest All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers' bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements) in the subject matter or materials discussed in this manuscript. AL reports consulting fees from Air Liquide Medical Systems, outside the submitted work; VD, NI, JB are employed by home care providers with no conflict of interest in relation to this work; HP reports personal fees from ASV Santé, SOS Oxygène, ISIS Medical, Breas Medical, ResMed, Sanofi – Genzyme, and Sanofi – Biogen, outside the submitted work. The other authors have no conflicts of interest to disclose., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Obstructive sleep apnea (OSA) is a respiratory disorder that has a high prevalence in patients with craniofacial, neurocognitive, and neuromuscular disorders. Currently, the treatments for this population are diverse and depend on the individual conditions of the patient and the severity of the case. However, there are no multidisciplinary dental treatment guidelines. The aim of the present study was to determine the multidisciplinary dental treatment alternatives in patients with craniofacial, neurocognitive, and neuromuscular disorders with a diagnosis of OSA through evidence-based medicine. A systematic review of the literature has been performed by searching scientific articles in the PubMed, Cochrane, Ovid, ScienceDirect and Scopus databases, through controlled and uncontrolled language. Articles were classified according to the level of evidence and grades of recommendation through the Scottish Intercollegiate Guidelines Network. A total of 19,439 references were identified, of which 15 articles met the predetermined requirements to be included in the investigation. The articles included for this systematic review showed that mandibular distraction osteogenesis and adenotonsilectomy are the first-choice therapies for craniofacial and neurocognitive disorders. However, for neuromuscular disorders, the findings reported were not enough to provide information about surgical or nonsurgical alternatives. Despite the reported high frequency of OSA in those children with craniofacial, neurocognitive, and neuromuscular disorders, the evidence on the surgical and nonsurgical therapeutic success for OSA in these patients is scarce. It is necessary to perform future studies to investigate successful therapies for OSA in children. [ Pediatr Ann . 2024;53(2):e62-e69.] .

Introduction/aims: Cough impairment is common in individuals with neuromuscular disorders and is associated with respiratory infections and shorter survival. Cough strength is assessed by measuring cough peak flow (CPF) using a flow meter, but this method requires a complex device setup and trained staff. The aim of the study is to evaluate the reliability of a smartphone app to estimate CPF based on cough sounds in a cohort of individuals with neuromuscular disorders., Methods: Individuals with neuromuscular disorders underwent CPF measurement with a flow meter and a smartphone app. A CPF <270 L/min was considered abnormal., Results: Of the 50 patients studied, 26 had amyotrophic lateral sclerosis (52%), 15 had hereditary myopathies (30%), and 9 had myasthenia gravis (18%). The intraclass correlation coefficient (ICC) between the CPF measured with a flow meter and CPF estimated with cough sounds was 0.774 (p < .001) even if the patients had orofacial weakness (ICC = 0.806, p < .001). The smartphone app had 94.4% sensitivity and 100% specificity to detect patients with CPF of less than 270 L/min., Discussion: Our findings suggest that sounds measured with a smartphone app provide a reliable estimate of CPF in patients with neuromuscular disorders, even in the presence of with orofacial weakness. This may be a convenient way to monitor respiratory involvement in patients with neuromuscular disorders, but larger studies of more diverse patient cohorts are needed., (© 2023 Wiley Periodicals LLC.)

Background: Muscle pain is a common symptom in patients with neuromuscular disorders (NMD) and accounts for severely reduced quality of life. OBJECTIVE: This clinical study aimed to observe possible differences in pain prevalence among distinct NMDs and to determine whether the patients' nociceptive pain is influenced by gender, muscle strength and psychological factors and to examine potential pain-associated alterations in muscle properties., Methods: The cross-sectional study on nociceptive pain in various NMDs involved patient-reported outcomes, muscle strength evaluations (dynamometry and quick motor function test (QMFT)), nociceptive pain evaluations (muscular pressure pain threshold (PPT)), and non-invasive measurement of muscle stiffness, frequency, decrement, relaxation, and creep (myotonometry)., Results: Involving 81 NMD patients and a control group, the study found high variability in pain prevalence among the subgroups. Patients with DM2 and FSHD had significantly higher levels of pain prevalence compared to other examined NMD subgroups and the control group. Female gender, high fatigue levels (representing factors such as depression, anxiety, stress, and impairment of quality of life), and low QMFT scores (representing reduced muscle strength) showed an association with increased sensitivity to pressure pain in the arm and leg region. As assessed by myotonometry, less pain is experienced in neck muscles with a high muscle tone, high stiffness, and a short relaxation time highlighting the importance of intrinsic muscular tone for their pressure pain sensitivity., Conclusion: Individualized therapeutic concepts including psychological and physical approaches in the pain management of patients with NMDs, especially in women, should be considered. Further research in this field is necessary to gain a more detailed insight into the perception of muscle pain.

Background: Dysphagia is common in adults living with neuromuscular disease (NMD). Increased life expectancy, secondary to improvements in standards of care, requires the recognition and treatment of dysphagia with an increased priority. Evidence to support the establishment of healthcare pathways is, however, lacking. The experiences of people living with NMD (pplwNMD) and their caregivers are valuable to guide targeted, value-based healthcare., Objective: To generate preliminary considerations for neuromuscular dysphagia care and future research in the United Kingdom, based on the experiences of those living with, or caring for, people with NMD., Methods: Two surveys (one for adults living with NMD and dysphagia, and a second for caregivers) were co-designed with an advisory group of people living with NMD. Surveys were electronically distributed to adults living with NMD and their caregivers between 18th May and 26th July 2020. Distribution was through UK disease registries, charity websites, newsletters, and social media., Results: Adults living with NMD receive little information or education that they are likely to develop swallowing difficulties. Most respondents report wanting this information prior to developing these difficulties. Difficulties with swallowing food and medication are common in this group, and instrumental assessment is considered a helpful assessment tool. Both adults living with NMD and caregivers want earlier access to neuromuscular swallowing specialists and training in how best to manage their difficulties., Conclusions: Improvement is needed in the dysphagia healthcare pathway for adults living with NMD to help mitigate any profound physical and psychological consequences that may be caused by dysphagia. Education about swallowing difficulties and early referral to a neuromuscular swallowing specialist are important to pplwNMD and their caregivers. Further research is required to better understand the experiences of pplwNMD and their caregivers to inform the development of dysphagia healthcare pathways.

Purpose: Neuromuscular scoliosis associated with myelomeningocele is a difficult clinical dilemma for the treating surgeon. The traditional surgical treatment consists of a posterior spinal instrumented fusion with or without a combined anterior procedure, but this has been associated with high complication rates, mostly related to deep infection. An anterior thoracolumbar fusion is not able to address the entirety of the deformity in many cases but could potentially avoid the devastating infection risks from the posterior approach by avoiding compromised skin. This study aims to evaluate the long-term outcomes and complications associated with isolated anterior thoracolumbar fusion in this high-risk group., Methods: This study is a retrospective analysis of patients with myelomeningocele-associated scoliosis treated with an isolated anterior spinal fusion over a 20-year time period at a single center. Surgical details, demographics, curve characteristics and complications were recorded. Comparisons were made between patients who required revision surgery and those who did not., Results: Sixteen patients were enrolled with an average age of 12.7 years at the time of surgery and average follow-up of 5.5 years. Patients had on average 7.4 levels fused anteriorly with the most common levels being T10-L4. There were no deep wound infections associated with the anterior surgery. Overall, nine patients (56%) had to be revised posteriorly due to adding-on or junctional deformity at an average of 3.7 years after index procedure. Four patients were revised due to proximal adding-on, while 1 was extended distally. Four additional patients were extended both proximally and distally. Of the posterior revisions, 2 patients developed deep wound infections, and both of these were in patients extended distally. Preoperative lumbar lordosis was higher in patients who required distal extension (100 vs. 69 degrees; p = 0.035)., Conclusions: Patients undergoing isolated anterior fusion for scoliosis associated with myelomeningocele have low infection rates but often require posterior revision. The majority of patients can avoid the deep infection risk associated with distal posterior surgery at long-term follow-up., Level of Evidence: IV., (© 2023. The Author(s), under exclusive licence to Scoliosis Research Society.)

Purpose: To investigate the characteristics of respiratory involvement in Chinese paediatric neuromuscular disease (NMD) at early stage and to explore convenient monitoring methods., Materials and Methods: Children with NMD (age < 18) diagnosed at a multidisciplinary joint NMD clinic at Peking University First Hospital from January 2016 to April 2021 were included. Overnight polysomnography (PSG) and pulmonary function test (PFT) data were analysed, and the characteristics of four groups: congenital muscular dystrophy (CMD), congenital myopathy, spinal muscular atrophy, and Duchenne muscular dystrophy (DMD) were compared., Results: A total of 83 children with NMD were referred for respiratory assessment, of who 80 children underwent PSG; 41 performed spirometry and 38, both. The duration of pulse oxygen saturation (SpO 2 ) <90% over apnoea and hypopnoea index (AHI) was lowest in DMD and significantly different from CMD ( p  = 0.033). AHI was positively correlated with the oxygen desaturation index (ODI) ( r  = 0.929, p  = 0.000). The peak expiratory flow (PEF) were positively correlated with forced vital capacity (FVC), both as actual values and percent pred, respectively ( r  = 0.820, 0.719, p  = 0.000). ROC derived sensitivity and specificity of prediction of AHI > 15/h or duration of SpO 2 <90% ≥ 60 min from FVC <51% pred was 75.8% and 85.7%, respectively., Conclusions: AHI and hypoxia burden were independent factors in children with NMD in PSG and attention needed to be paid in both. FVC might be a daytime predictor for significant sleep-disordered breathing or hypoxia. Nocturnal consecutive oximetry with diurnal peak flow measurement may be convenient and effective for home monitoring at early stage of respiratory involvement.

Enterovirus D68 (EV-D68) is one of hundreds of non-polio enteroviruses that typically cause cold-like respiratory illness. The first EV-D68 outbreak in the United States in 2014 aroused widespread concern among the public and health authorities. The infection was found to be associated with increased surveillance of acute flaccid myelitis, a neurological condition that causes limb paralysis in conjunction with spinal cord inflammation. In vitro studies utilising two-dimensional (2D) and three-dimensional (3D) culture systems have been employed to elucidate the pathogenic mechanism of EV-D68. Various animal models have also been developed to investigate viral tropism and distribution, pathogenesis, and immune responses during EV-D68 infection. EV-D68 infections have primarily been investigated in respiratory, intestinal and neural cell lines/tissues, as well as in small-size immunocompetent rodent models that were limited to a young age. Some studies have implemented strategies to overcome the barriers by using immunodeficient mice or virus adaptation. Although the existing models may not fully recapitulate both respiratory and neurological disease observed in human EV-D68 infection, they have been valuable for studying pathogenesis and evaluating potential vaccine or therapeutic candidates. In this review, we summarise the methodologies and findings from each experimental model and discuss their applications and limitations., (Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.)

Sleep disordered breathing (SDB) is prevalent among children with neuromuscular disorders (NMD). The combination of respiratory muscle weakness, altered drive, and chest wall distortion due to scoliosis make sleep a stressful state in this population. Symptomatology can range from absent to snoring, nocturnal awakenings, morning headaches, and excessive daytime sleepiness. Sequelae of untreated SDB includes cardiovascular effects, metabolic derangements, and neurocognitive concerns which can be compounded by those innate to the NMD. The clinician should have a low threshold for obtaining polysomnography and recognize the nuances of individual disorders due to disproportionately impacted muscle groups such as hypoventilation in ambulating patients from diaphragm weakness. Non-invasive or invasive ventilation are the mainstay of treatment. In this review we explore the diagnosis and treatment of SDB in children with various NMD., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Respiratory failure is a common and potentially life-threatening complication of neuromuscular diseases. Prompt recognition and accurate diagnosis of new or worsening chronic neuromuscular disease have important clinical management and prognostic implications. In this article, we present an approach to the acute presentation of undifferentiated neuromuscular respiratory failure in the ICU and guidance for determination and respiratory management of the underlying disorder., Competing Interests: Financial/Nonfinancial Disclosures The authors have reported to CHEST the following: J. B. C. has a grant from Catalyst Pharmaceuticals Inc and receives clinical trial support from MTB Pharma Inc and Amylyx Pharmaceuticals. The institution receives funding on behalf of D. C. F. from NIH, CDC, and Quantum Leap Healthcare Collaborative. D. C. F. has worked as a consultant for Cytovale and Medpace. None declared (J. T. W. K., A. C.)., (Copyright © 2023. Published by Elsevier Inc.)

Study Design: Nonrandomized controlled cohort., Objective: To compare early results between bipolar fusionless construct (BFC) and single posterior fusion (SPF) surgery in neuromuscular scoliosis (NMS)., Background: Surgical treatments for NMS have traditionally been characterized by high complication rates. A mini-invasive BFC was developed to reduce these risks while maintaining adequate curve reduction. There is, however, a current lack of studies comparing clinical and radiologic perioperative outcomes between both techniques., Methods: All patients surgically treated for NMS with to-pelvis construct between 2011 and 2021 at 2 centers were included and divided into 2 groups according to the surgical technique (BFC or SPF). Gender, age, main deformity region, etiology, preoperative and postoperative main curve magnitude and pelvic obliquity, surgery time, estimated blood loss and transfusion rates, length of hospital stay, the magnitude of main curve and pelvic obliquity correction, and early complications were compared. Quantitative data were compared through ANOVA or Mann-Whitney test. Analysis of qualitative outcomes was performed through Fisher exact test and logistic regressions. Kruskal-Wallis test was used to compare complications between groups., Results: Eighty-nine NMS patients were included: 48 in the SPF group and 41 in the BFC group. Surgery time (203 vs. 241 min), rate (32 vs. 52%) and severity of complications, unplanned returns to the operating room (15 vs. 39%), estimated blood loss (179 vs. 364 cc), and transfusion rates (27 vs. 73%) were lower in the BFC group ( P <0.05). There were no significant differences in age, maturity stage, preoperative curve magnitude, preoperative pelvic obliquity and postoperative curve, and pelvic obliquity correction between groups., Conclusions: BFC may be a safer and less invasive option for NMS surgical treatment, resulting in similar curve corrections while significantly decreasing the number and severity of complications as well as intraoperative blood loss when compared with SPF., Level of Evidence: Level -lll., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Patients with neuromuscular diseases (NMD) can present to the neurologist with symptoms and signs of respiratory failure, either acutely or as an insidious process in the outpatient setting. Since the advent of non-invasive ventilation, the outcomes of patients with ventilatory failure due to NMD have dramatically improved. However, the natural history of different NMDs requires a nuanced approach to respiratory investigation and management. Respiratory failure dictates the prognosis of many NMDs and timing the most appropriate investigation and referral to ventilation services is crucial in optimising care., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Background/aim: There are no current guidelines to help clinicians decide whether patients with adult neuromuscular disease (NMD) should be screened or treated for osteoporosis (OP). This study was undertaken to investigate the presence of OP in patients with various types of NMD and to examine the relationship between OP evaluation parameters and functional status, daily living activities, balance, and ambulation levels., Materials and Methods: This cross-sectional study included 45 patients with NMDs. The patients were divided into 3 groups, depending on the affected component of the motor unit (neuronopathy group, neuropathy group, and myopathy group). The laboratory and demographic data were recorded from patient files. Functional level, pain, muscular strength, balance, and daily living activity scores were evaluated. The presence of OP was quantified using bone densitometry, fracture history, and biochemical parameters. Clinical findings were correlated with laboratory and dual-energy X-ray absorptiometry (DEXA) findings., Results: The mean hip T-score was -1.20, and the mean lumbar spine (L1-L4) T-score was -0.95 in all groups. Six patients with T-score values of -2.5 or below were detected. Vitamin D level was found to be low in all patient groups, especially in the myopathy group, but there was no significant difference (p > 0.05). There was a negative correlation between hip T-score and the frequency of falling (r = -0.604, p = 0.022), while a positive correlation was found between hip T-score and the age at which independent walking was no longer possible (r = 0.900, p = 0.037)., Conclusion: OP is often overlooked in NMD patients with neurological problems and a high risk of falling. These patients should be screened for bone health and fragility., Competing Interests: Conflict of interest: The authors declare no conflict of interest., (© TÜBİTAK.)

Introduction: The decision to instrument to L5 or ilium, in NMS, is usually based on radiologic factors, including pelvic obliquity (PO) > 15°, apex of curvature < L3, and Cobb angle > 60°. Since scoliosis in these patients is caused by a neurologic disease, we based our decision to stop at L5 on the presence of spasticity or flaccidity., Patients & Methods: The senior author did 109 primary fusions in NMS. Of those with DMD or SMA only 16% were instrumented to the ilium. The main factor for our decision was the correction potential of the truncal shift and PO in the supine traction radiographs and the absence of severe spasticity., Results: The 57 patients with DMD/SMA had a mean preoperative curvature of 68°, PO of 17°, and truncal shift of 20°. 74% should have been instrumented to the pelvis, but only 16% were. Those instrumented shorter as the rule, were corrected from 74° to 26° and had a postoperative PO of 8°. There was no significant difference in postoperative correction and PO compared to those instrumented to L5 on standard protocol. Subsequent extension to the pelvis was needed in 1 CP patient. There were no significant changes after 2 years. Of the 20 patients instrumented to the pelvis 11 had cerebral palsy and a preop curvature of 89°, a PO of 21° and a truncal shift of 25°., Discussion: The decision on instrumentation length should take flexibility and disease into consideration. If the trunk is centred over the pelvis, deterioration will not occur in absence of spasticity., (© 2023. The Author(s).)

Compartment syndrome (CS) is a medical emergency that occurs secondary to excessively high pressures within a confined fibro-osseous space, resulting in reduced perfusion and subsequent tissue injury. CS can be divided into acute forms, most commonly due to trauma and considered an orthopaedic emergency, and chronic forms, most commonly presenting in athletes with recurrent exercise-induced pain. Downstream pathophysiological mechanisms are complex but do share commonalities with mechanisms implicated in genetic neuromuscular disorders. Here we present 3 patients with recurrent CS in the context of a RYR1-related disorder (n = 1) and PYGM-related McArdle disease (n = 2), two of whom presented many years before the diagnosis of an underlying neuromuscular disorder was suspected. We also summarize the literature on previously published cases with CS in the context of a genetically confirmed neuromuscular disorder and outline how the calcium signalling alterations in RYR1-related disorders and the metabolic abnormalities in McArdle disease may feed into CS-causative mechanisms. These findings expand the phenotypical spectrum of RYR1-related disorders and McArdle disease; whilst most forms of recurrent CS will be sporadic, above and other genetic backgrounds ought to be considered in particular in patients where other suggestive clinical features are present., Competing Interests: Declaration of Competing Interest None, (Copyright © 2023. Published by Elsevier B.V.)

Background: Many patients with neuromuscular scoliosis (NMS) experience a variety of difficult medical problems that aggravate the development effects of progressive scoliosis and pelvic obliquity (PO). The objective of the current study was to assess the safety and effectiveness of multi-rod posterior correction only (MRPCO) with halo-femoral traction (HFT) for the management of adult NMS (> 100°) with severe PO., Methods: From 2012 to 2017, 13 adult patients who suffered from NMS (> 100°) with severe PO underwent MRPCO with HFT. The radiography parameters in a sitting position, such as the coronal Cobb angle of the main curve, the PO and the trunk shift (TS), were measured at the preoperative, postoperative and final follow-up stages. The preoperative and final follow-up assessment of the Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) was taken., Results: The average follow-up span was 68.15 ± 6.78 months. There was decreased postoperative coronal Cobb angle with an average mean of 125.24° ± 11.78° to 47.55° ± 12.10°, with a correction rate of 62.43%; the PO was reduced to 6.25° ± 1.63° from 36.93° ± 4.25° with a correction rate of 83.07%; the TS was reduced to 2.41 cm ± 1.40 cm from 9.19 cm ± 3.07 cm. There was significant improvement in all parameters compared to the preoperative data. The VAS score reduced from 4.77 ± 0.93 to 0.69 ± 0.75, and the ODI score reduced from 65.38 ± 16.80 to 28.62 ± 12.29 at the final follow-up., Conclusions: Treatment of adult NMS (> 100°) with severe PO could be safe and effective with MRPCO with HFT. In order to obtain the optimum sitting balance, this could reduce the prevalence of complications and rectify the curvature and the correction of PO., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Rationale: Clinical care guidelines advise that lung volume recruitment (LVR) be performed routinely by people with neuromuscular disease (NMD) to maintain lung and chest wall flexibility and slow lung function decline. However, the evidence base is limited, and no randomized controlled trials of regular LVR in adults have been published. Objectives: To evaluate the effect of regular LVR on respiratory function and quality of life in adults with NMD. Methods: A randomized controlled trial with assessor blinding was conducted between September 2015 and May 2019. People (>14 years old) with NMD and vital capacity <80% predicted were eligible, stratified by disease subgroup (amyotrophic lateral sclerosis/motor neuron disease or other NMDs), and randomized to 3 months of twice-daily LVR or breathing exercises. The primary outcome was change in maximum insufflation capacity (MIC) from baseline to 3 months, analyzed using a linear mixed model approach. Results: Seventy-six participants (47% woman; median age, 57 [31-68] years; mean baseline vital capacity, 40 ± 18% predicted) were randomized (LVR, n  = 37). Seventy-three participants completed the study. There was a statistically significant difference in MIC between groups (linear model interaction effect P  = 0.002, observed mean difference, 0.19 [0.00-0.39] L). MIC increased by 0.13 (0.01-0.25) L in the LVR group, predominantly within the first month. No interaction or treatment effects were observed in secondary outcomes of lung volumes, respiratory system compliance, and quality of life. No adverse events were reported. Conclusions: Regular LVR increased MIC in a sample of LVR-naive participants with NMD. We found no direct evidence that regular LVR modifies respiratory mechanics or slows the rate of lung volume decline. The implications of increasing MIC are unclear, and the change in MIC may represent practice. Prospective long-term clinical cohorts with comprehensive follow-up, objective LVR use, and clinically meaningful outcome data are needed. Clinical trial registered with anzctr.org.au (ACTRN12615000565549).

Introduction: Cough capacity is assessed by measuring cough peak flow (CPF). However, this assessment could be altered by obstructive airway diseases. The aim was to assess measurement of cough capacity by CPF in patients with chronic obstructive pulmonary disease (COPD), as well as correlations with pulmonary, respiratory muscle, and oropharyngeal function., Methods: Patients with COPD, and with neuromuscular disease, were selected as well as healthy subjects who had undergone respiratory muscle strength measurement in a healthcare setting. From this population, respiratory function values and lung and oropharyngeal muscle function were analysed. A subgroup of COPD patients underwent a videofluoroscopic swallow study., Results: Three hundred and seven subjects were included (59.3% COPD, 38.4% neuromuscular diseases, and 2.3% healthy). CPF was found to be statistically significantly decreased in the COPD group compared to both the healthy and neuromuscular disease groups. Of the COPD patients, 70% had a pathological decrease in CPF. There was only a direct correlation between CPF with the degree of bronchial obstruction and expiratory muscle strength. No alteration of inspiratory or oropharyngeal muscle function was found., Conclusions: The use of CPF in COPD patients does not reflect cough capacity as it is influenced by the degree of bronchial obstruction. Therefore, new diagnostic tests to measure cough capacity should be considered, especially in patients with coexisting neuromuscular diseases and severe bronchial obstructive disease., (Copyright © 2022 Sociedad Española de Rehabilitación y Medicina Física. Publicado por Elsevier España, S.L.U. All rights reserved.)

The emergence of SARS-CoV-2 has profoundly impacted global society and various aspects of human life. While the pandemic has resulted in disruptions and challenges, it has also accelerated scientific research on viruses and immunology, leading to remarkable progress in vaccine technology and immunization strategies. This review examines the impact of SARS-CoV-2 on pre-existing neuromuscular disorders, and neuromuscular events following SARS-CoV-2 infection, including immune-mediated and critical illness status-related disorders. Furthermore, the review discusses the relationship between SARSCoV- 2 vaccination and neuromuscular complications. The findings highlight the need for further research and understanding to improve patient outcomes. Keywords: SARS-CoV-2, neuromuscular diseases, vaccine.