RESUMO
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.
La prevalencia de los trastornos del sueño (TS) se incrementa notoriamente en niños con enfermedad neurológica crónica, con un vínculo bidireccional negativo que agrava su sintomatología y repercute negativamente en la calidad de vida del niño y su familia. Identificar y reconocer dicha asociación es clave para el neuropediatra, ya que el tratamiento del TS mejora significativamente la sintomatología diurna de los trastornos del neurodesarrollo, epilepsia, cefaleas primarias, parálisis cerebral y enfermedades neuromusculares.
Assuntos
Transtornos do Sono-Vigília , Humanos , Transtornos do Sono-Vigília/fisiopatologia , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/complicações , Criança , Doença Crônica , Doenças do Sistema Nervoso/complicações , Doenças do Sistema Nervoso/fisiopatologia , Qualidade de Vida , Doenças Neuromusculares/complicações , Doenças Neuromusculares/fisiopatologia , Transtornos do Neurodesenvolvimento/complicaçõesRESUMO
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.
Assuntos
Deglutição , Doenças Neuromusculares , Ventilação não Invasiva , Humanos , Doenças Neuromusculares/complicações , Doenças Neuromusculares/fisiopatologia , Ventilação não Invasiva/métodos , Deglutição/fisiologia , Fala/fisiologia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Transtornos de Deglutição/fisiopatologiaRESUMO
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.
Assuntos
Doenças Neuromusculares , Ventilação não Invasiva , Insuficiência Respiratória , Humanos , Doenças Neuromusculares/fisiopatologia , Doenças Neuromusculares/terapia , Doenças Neuromusculares/complicações , Ventilação não Invasiva/métodos , Insuficiência Respiratória/terapia , Insuficiência Respiratória/etiologia , Insuficiência Respiratória/fisiopatologia , Qualidade de VidaRESUMO
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.
Assuntos
Força Muscular , Doenças Neuromusculares , Dor Nociceptiva , Humanos , Masculino , Feminino , Estudos Transversais , Pessoa de Meia-Idade , Adulto , Doenças Neuromusculares/complicações , Doenças Neuromusculares/fisiopatologia , Dor Nociceptiva/fisiopatologia , Limiar da Dor , Medição da Dor , Idoso , Fatores Sexuais , Qualidade de Vida , PrevalênciaRESUMO
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.
Assuntos
Serviços de Assistência Domiciliar , Ventilação não Invasiva , Insuficiência Respiratória , Humanos , Ventilação não Invasiva/métodos , Ventilação não Invasiva/instrumentação , Insuficiência Respiratória/terapia , Doença Pulmonar Obstrutiva Crônica/terapia , Monitorização Fisiológica/métodos , Doenças Neuromusculares/terapia , Doenças Neuromusculares/complicaçõesRESUMO
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.
Assuntos
Doenças Neuromusculares , Humanos , Doenças Neuromusculares/terapia , Doenças Neuromusculares/complicações , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/fisiopatologia , CriançaRESUMO
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.
Assuntos
Paralisia Cerebral , Eletromiografia , Doenças Neuromusculares , Síndrome da Mioclonia Noturna , Polissonografia , Humanos , Feminino , Masculino , Paralisia Cerebral/fisiopatologia , Paralisia Cerebral/epidemiologia , Paralisia Cerebral/complicações , Criança , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/fisiopatologia , Doenças Neuromusculares/complicações , Estudos Retrospectivos , Adolescente , Síndrome da Mioclonia Noturna/epidemiologia , Síndrome da Mioclonia Noturna/fisiopatologia , Pré-Escolar , Lactente , Prevalência , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/fisiopatologiaRESUMO
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.
Assuntos
Absorciometria de Fóton , Densidade Óssea , Doenças Neuromusculares , Osteoporose , Humanos , Masculino , Feminino , Osteoporose/epidemiologia , Estudos Transversais , Doenças Neuromusculares/fisiopatologia , Doenças Neuromusculares/complicações , Doenças Neuromusculares/epidemiologia , Pessoa de Meia-Idade , Adulto , Densidade Óssea/fisiologia , Idoso , Atividades Cotidianas , Vértebras Lombares/fisiopatologiaRESUMO
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.
Assuntos
Doenças Neuromusculares , Humanos , Criança , Doenças Neuromusculares/complicações , Doença Crônica , Assistência Perioperatória/métodos , Complicações Pós-Operatórias/prevenção & controle , Complicações Pós-Operatórias/epidemiologia , Procedimentos OrtopédicosRESUMO
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.
Assuntos
Doenças Neuromusculares , Complicações Pós-Operatórias , Escoliose , Fusão Vertebral , Escoliose/cirurgia , Humanos , Doenças Neuromusculares/complicações , Fusão Vertebral/métodos , Fusão Vertebral/efeitos adversos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Cuidados Pré-Operatórios/métodos , Qualidade de Vida , Sociedades MédicasRESUMO
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.
Assuntos
Transtornos de Deglutição , Humanos , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Transtornos de Deglutição/diagnóstico , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/complicações , Prognóstico , Paralisia Cerebral/complicações , Doenças Neuromusculares/complicaçõesRESUMO
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.
Assuntos
Artrodese , Articulação Talocalcânea , Humanos , Artrodese/métodos , Criança , Estudos Retrospectivos , Feminino , Masculino , Adolescente , Articulação Talocalcânea/cirurgia , Articulação Talocalcânea/diagnóstico por imagem , Resultado do Tratamento , Doenças Neuromusculares/cirurgia , Doenças Neuromusculares/complicações , Radiografia , Seguimentos , Paralisia Cerebral/complicações , Paralisia Cerebral/cirurgia , Ossos do Tarso/cirurgia , Ossos do Tarso/diagnóstico por imagem , Pé Chato/cirurgia , Pé Chato/diagnóstico por imagem , Deformidades Adquiridas do Pé/cirurgia , Deformidades Adquiridas do Pé/etiologia , Deformidades Adquiridas do Pé/diagnóstico por imagemRESUMO
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.
Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Ketamina , Doenças Neuromusculares , Estado Epiléptico , Humanos , Criança , Masculino , Adolescente , Recém-Nascido , Feminino , Ketamina/efeitos adversos , Estudos Retrospectivos , Anticonvulsivantes/uso terapêutico , Estado Epiléptico/complicações , Convulsões/complicações , Doenças Neuromusculares/complicaçõesRESUMO
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.
Assuntos
Parafusos Ósseos , Procedimentos Cirúrgicos Robóticos , Escoliose , Fusão Vertebral , Humanos , Ílio/cirurgia , Vértebras Lombares/cirurgia , Vértebras Lombares/diagnóstico por imagem , Doenças Neuromusculares/complicações , Doenças Neuromusculares/cirurgia , Ossos Pélvicos/cirurgia , Ossos Pélvicos/diagnóstico por imagem , Ossos Pélvicos/lesões , Procedimentos Cirúrgicos Robóticos/métodos , Procedimentos Cirúrgicos Robóticos/instrumentação , Sacro/cirurgia , Sacro/diagnóstico por imagem , Escoliose/cirurgia , Fusão Vertebral/métodos , Fusão Vertebral/instrumentação , Cirurgia Assistida por Computador/métodosRESUMO
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.
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Paralisia Bulbar Progressiva , Doenças Neuromusculares , Insuficiência Respiratória , Humanos , Feminino , Pessoa de Meia-Idade , Centros de Atenção Terciária , Estudos Retrospectivos , Doenças Neuromusculares/complicações , Doenças Neuromusculares/diagnóstico , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/etiologiaRESUMO
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.
Assuntos
Doenças Neuromusculares , Insuficiência Respiratória , Humanos , Respiração , Doenças Neuromusculares/complicações , Insuficiência Respiratória/etiologia , Bulbo , PonteRESUMO
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.
Assuntos
Complicações Pós-Operatórias , Escoliose , Fusão Vertebral , Humanos , Fusão Vertebral/efeitos adversos , Escoliose/cirurgia , Criança , Adolescente , Feminino , Masculino , Estudos Retrospectivos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Doenças Neuromusculares/complicações , Doenças Neuromusculares/epidemiologia , Fatores de Risco , Fatores de Tempo , Duração da Cirurgia , Pneumonia/epidemiologia , Pneumonia/etiologiaRESUMO
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.].
Assuntos
Doenças Neuromusculares , Apneia Obstrutiva do Sono , Criança , Humanos , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/terapia , Doenças Neuromusculares/complicações , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/terapiaRESUMO
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.