Pediatric neuromuscular disease

OBJECTIVES: To determine precision errors and monitoring time intervals in imaged muscle properties and neuromuscular performance, and to explore growth-related factors associated with precision errors in children. METHODS: We included 35 children (mean age 10.5yrs) in the precision study cohort and 40 children (10.7yrs) in the follow-up study cohort. We assessed forearm and lower leg muscle properties (area, density) with peripheral quantitative computed tomography...

INTRODUCTION: Pedicle screws are the primary method of vertebral fixation in scoliosis surgery, but there are lingering concerns over potential malposition. The rates of pedicle screw malposition in pediatric spine surgery vary from 10% to 21%. Malpositioned screws can lead to potentially catastrophic neurological, vascular, and visceral complications. Pedicle screw positioning in patients with neuromuscular scoliosis is challenging due to a combination of large curves, complex pelvic anatomy, and osteopenia...

Patients with spinal muscular atrophy (SMA) are at risk of poor bone health and fractures. We report a child with SMA type 2, presenting with acute pain and swelling of both lower limbs following physiotherapy, and found to have multiple fractures in both lower limbs. Literature on fractures in children with SMA is limited. Awareness of risk assessment and appropriate preventive measures among healthcare providers caring for children with SMA is essential.

Background : Spinal muscular atrophy (SMA) has a remarkable impact on function and participation. Subsequently, the caregivers of individuals with SMA are impacted as well. Providers and the SMA community should be aware of the presence of and likely expectations for the existence of caregiver burden. Methods : The Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) quantifies caregivers' perceptions of function and quality of life pertaining to time, finance and emotion. Analyses were conducted among SMA types and ambulatory and ventilatory status...

BACKGROUND: Nusinersen treatment has demonstrated efficacy in improving clinical outcomes for spinal muscular atrophy (SMA), yet its impact on scoliosis progression remains unclear. OBJECTIVE: This study aimed to assess the progression of scoliosis in pediatric patients with SMA undergoing nusinersen treatment. METHODS: In this prospective study, data were systematically collected from Hong Kong pediatric SMA patients receiving nusinersen between 2018 and 2023...

BACKGROUND: Respiratory syncytial virus (RSV) infection is associated with significant morbidity in infants. Risk factors for severe disease beyond the first 2 years of life have not been fully defined. METHODS: Children <5 years hospitalized with virologically confirmed RSV infection were identified over six respiratory seasons (10/2012-4/2018) and their medical records manually reviewed. Multivariable analyses were performed to define the age-specific (<6, 6-24, and >24-59 months) risk factors associated with oxygen administration, PICU admission, mechanical ventilation, and duration of hospitalization...

Acute respiratory failure is an important reason for pediatric intensive care admissions. Lung parenchymal disease, airway obstruction, or neuromuscular dysfunction are the most common causes. Negative pressure pulmonary edema, characterized by pulmonary edema associated with upper airway obstruction, can rarely cause sudden onset respiratory failure. Herein, we describe an infant who suffered sudden onset respiratory failure and pulmonary hemorrhage while being held facedown for a bath, was admitted to the pediatric intensive care unit, intubated and mechanically ventilated for three days, and was diagnosed with negative pressure pulmonary edema, and discharged without any sequelae...

INTRODUCTION/AIMS: Obesity disproportionately affects children and adolescents with Duchenne muscular dystrophy (DMD) and with adverse consequences for disease progression. This study aims to: explore barriers, enablers, attitudes, and beliefs about nutrition and weight management; and to obtain caregiver preferences for the design of a weight management program for DMD. METHODS: We surveyed caregivers of young people with DMD from four Australian pediatric neuromuscular clinics...

BACKGROUND: The COVID-19 pandemic has affected healthcare worldwide since December 2019. We aimed to identify the effect of the COVID-19 pandemic on outpatient clinic and surgical volumes and peri-operative complications for pediatric spinal deformities patients. METHODS: In this multi-center retrospective study, outpatient visits (in-person and virtual care) and pediatric spine surgeries volumes in four high-volume pediatric spine centers were compared between March and December 2019 and the same period in 2020...

It has long been reported that neuropsychological deficits may be present in dystrophinopathies, specifically non-progressive cognitive impairment and a global deficit in executive functions; this neurocognitive profile has been less explored in patients with Becker than Duchenne muscular dystrophy (BMD/DMD). We conducted a longitudinal study to explore the evolution of neuropsychological and behavioural profile in a cohort of paediatric BMD. Seventeen patients with BMD without intellectual disability were assessed using a full battery of tests, including intellectual, adaptive and executive functioning, language and behavioral features...

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...

BACKGROUND: Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management. METHODS: A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines...

INTRODUCTION: External fixators (EF) are widely employed for pediatric tibial shaft fractures, being a prevalent choice in clinical practice. However, they are associated with numerous complications, such as loss of reduction, delayed union, and nonunion. An alternative approach involves the use of Ilizarov external fixators (IEF), which have been documented in the treatment of tibial shaft fractures in various studies. This study endeavors to retrospectively compare the clinical outcomes of EF and IEF in the treatment of pediatric tibial shaft fractures...

BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders. Our objective was to determine the clinical and molecular characteristics of patients with genetically confirmed childhood-onset HSPs and to expand the genetic spectrum for some rare subtypes of HSP. METHODS: We reviewed the charts of subjects with genetically confirmed childhood-onset HSP. The age at the disease onset was defined as the point at which the delayed motor milestones were observed...

BACKGROUND: Neuromuscular choristomas (NMCs) are rare tumors involving aberrant intercalation of muscle fibers into peripheral nerves, most commonly the sciatic nerve. Although benign, these lesions risk developing into NMCs with desmoid-type fibrosis (NMC-DTFs), aggressive lesions potentially requiring amputation. Currently, information on NMCs and the link between NMCs and NMC-DTFs is limited in adults, with the majority of cases reported in children. We present the case of a 66-year-old male with a sciatic NMC alongside a Preferred Reporting Items for Systematic Reviews and Meta-Analyses-based systematic review of similar cases to better characterize this lesion in the adult population...

BACKGROUND: Sugammadex was initially approved for reversal of neuromuscular blockade in adults in the United States in 2015. Limited data suggest sugammadex is widely used in pediatric anesthesia practice however the factors influencing use are not known. We explore patient, surgical, and institutional factors associated with the decision to use sugammadex versus neostigmine or no reversal, and the decision to use 2 mg/kg vs 4 mg/kg dosing. METHODS: Using data from the Multicenter Perioperative Outcomes Group (MPOG) database, an EHR-derived registry, we conducted a retrospective cross-sectional study...

PURPOSE: To describe the feasibility and effect of caregiver-mediated exercise training using a novel Therapeutic Play Gym in 3 neonatal intensive care unit (NICU) graduates with rare neuromuscular diseases. SUMMARY OF KEY POINTS: Caregivers of 3 medically complex, technology-dependent NICU graduates could not access community-based rehabilitation services after discharging from lengthy initial hospitalizations. These children, diagnosed with spinal muscular atrophy type 0, untreated X-linked myotubular myopathy, and untreated nemaline myopathy 3 (NEM3), completed monthly consultations with a pediatric clinical specialist and 3 assessment appointments...

Spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality, characterized by progressive neuromuscular degeneration resulting from mutations in the survival motor neuron ( SMN1 ) gene. The availability of disease-modifying therapies for SMA therapies highlights the pressing need for easily accessible and cost-effective blood biomarkers to monitor treatment response and for better disease management. Additionally, the wide implementation of newborn genetic screening programs in Western countries enables presymptomatic diagnosis of SMA and immediate treatment administration...

Schwartz-Jampel Syndrome (SJS) type-1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS Type-1 develops due to variations in the HSPG2 gene which produces the "perlecan" molecule, one of the main proteoglycans of the basement membrane. A 6-year-old girl presented with short stature, a mask face, shrunken lips, narrow palpebral opening due to blepharospasm, stiffness of facial muscles, micrognathia, overlapping teeth, a short neck, and a bell-shaped thorax due to myotonic myopathy...

Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019. The current mean age was 33.1 ± 18.3 years (ranging from 7 to 71 years) and mean age at defined genetic diagnosis was 36...