Care for Patients With Neuromuscular Disorders in the COVID-19 Pandemic Era.

The coronavirus disease 2019 (COVID-19) pandemic has prompted a rapid and unprecedented reorganization of medical institutions, affecting clinical care for patients with chronic neurological diseases. Although there is no evidence that patients with neuromuscular disorders (NMD) confer a higher infection risk of COVID-19, NMD and its associated therapies may affect the patient's ability to cope with infection or its systemic effects. Moreover, there is a concern that patients with chronic NMD may be at increased risk of manifesting severe symptoms of COVID-19. In particular, as respiratory compromises account for the major cause of mortality and morbidity in NMD patients, newly emerging data also show that the risk of exacerbation caused by COVID-19 accumulates in this particular patient group. For example, patients with motor neuron disease and dystrophinopathies often have ventilatory muscle weakness or cardiomyopathy, which may increase the risk of severe COVID-19 infection. Thus, the COVID-19 pandemic may severely affect NMD patients. Several neurological associations and neuromuscular networks have recently guided the impact of COVID-19 on patients with NMD, especially in managing cardiopulmonary involvements. It is recommended that patients with moderate- to high-risk NMD be sophisticatedly monitored to reduce the risk of rapid decline in cardiopulmonary function or potential deterioration of the underlying NMD. However, limited neuromuscular-specific recommendations for NMD patients who contract COVID-19 and outcome data are lacking. There is an urgent need to properly modify the respiratory care method for NMD patients, especially during the COVID-19 pandemic. Conclusively, COVID-19 is a rapidly evolving field, and the practical guidelines for the management of NMD patients are frequently revised. There must be a close collaboration in a multidisciplinary care team that should support their hospital to define a standardized care method for NMD patients during the COVID pandemic. This article reviews evidence-based practical guidelines regarding care delivery, modification, and education, highlighting the need for team-based and interspecialty collaboration.

Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA), the main genetic cause of infant death, is a neurodegenerative disease characterized by the selective loss of motor neurons in the anterior horn of the spinal cord, accompanied by muscle wasting. Pathomechanically, SMA is caused by low levels of the survival motor neuron protein (SMN) resulting from the loss of the SMN1 gene. However, emerging research extends the pathogenic effect of SMN deficiency beyond motor neurons. A variety of metabolic abnormalities, especially altered fatty acid metabolism and impaired glucose tolerance, has been described in isolated cases of SMA; therefore, the impact of SMN deficiency in metabolic abnormalities has been speculated. Although the life expectancy of these patients has increased due to novel disease-modifying therapies and standardization of care, understanding of the involvement of metabolism and nutrition in SMA is still limited. Optimal nutrition support and metabolic monitoring are essential for patients with SMA, and a comprehensive nutritional assessment can guide personalized nutritional therapy for this vulnerable population. It has recently been suggested that metabolomics studies before and after the onset of SMA in patients can provide valuable information about the direct or indirect effects of SMN deficiency on metabolic abnormalities. Furthermore, identifying and quantifying the specific metabolites in SMA patients may serve as an authentic biomarker or therapeutic target for SMA. Here, we review the main epidemiological and mechanistic findings that link metabolic changes to SMA and further discuss the principles of metabolomics as a novel approach to seek biomarkers and therapeutic insights in SMA.

Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review.

Facioscapulohumeral muscular dystrophy (FSHD)-the worldwide third most common inherited muscular dystrophy caused by the heterozygous contraction of a 3.3 kb tandem repeat (D4Z4) on a chromosome with a 4q35 haplotype-is a progressive genetic myopathy with variable onset of symptoms, distribution of muscle weakness, and clinical severity. While much is known about the clinical course of adult FSHD, data on the early-onset infantile phenotype, especially on the progression of the disease, are relatively scarce. Contrary to the classical form, patients with infantile FSHD more often have a rapid decline in muscle wasting and systemic features with multiple extramuscular involvements. A rough correlation between the phenotypic severity of FSHD and the D4Z4 repeat size has been reported, and the majority of patients with infantile FSHD obtain a very short D4Z4 repeat length (one to three copies, EcoRI size 10-14 kb), in contrast to the classical, slowly progressive, form of FSHD (15-38 kb). With the increasing identifications of case reports and the advance in genetic diagnostics, recent studies have suggested that the infantile variant of FSHD is not a genetically separate entity but a part of the FSHD spectrum. Nevertheless, many questions about the clinical phenotype and natural history of infantile FSHD remain unanswered, limiting evidence-based clinical management. In this review, we summarize the updated research to gain insight into the clinical spectrum of infantile FSHD and raise views to improve recognition and understanding of its underlying pathomechanism, and further, to advance novel treatments and standard care methods.

Comparison of Clinical Characteristics Between Febrile and Afebrile Seizures Associated With Acute Gastroenteritis in Childhood.

Background: Acute gastroenteritis (AGE) accompanied by seizures is not a rare scenario in childhood. We investigated the clinical features of children with febrile or afebrile seizures during AGE and aimed to identify the impact of fever in this situation-related seizure. Methods: We retrospectively reviewed the medical charts of children admitted due to seizures associated with mild AGE between January 2008 and December 2017. These consecutive patients were divided into two groups: an "afebrile group" whose diagnosis was compatible with "benign convulsion with mild gastroenteritis (CwG)" and a "febrile group" who had a fever within 24 h of the onset of an AGE-related seizure. We compared the two groups' clinical and laboratory characteristics, electroencephalograms (EEG), neuroimaging, and outcomes. Results: Of the children suffering from AGE and seizures, 41 were afebrile and 30 were febrile, with a mean age of 32.2 ± 27.6 months. The gender, seizure semiology, frequency, duration of seizures, the time interval between AGE symptoms onset and first seizure, and levels of serum sodium, and hepatic enzymes were significantly different between the two groups. The most frequently identified enteropathogen was rotavirus (33%), especially in the male and febrile subjects. Afebrile patients had more EEG abnormalities initially, but all returned to normal later. All cases had an uneventful outcome. Of note, seizure clusters (≥2 episodes) occurred more frequently in the afebrile patients who had a duration of AGE symptoms lasting 2 days or more, or white blood cell counts ≥ 10,000/µL (p-values: 0.05 and 0.04, respectively). In comparison with seven similar studies, all showed more seizure clusters, partial seizures, and a shorter interval between AGE onset and seizures in afebrile patients than in febrile patients. Contrarily, afebrile patients had longer seizure duration and lower serum hepatic transaminases than febrile patients. Conclusion: Although fever partially influenced the clinical features of AGE-related seizures, febrile CwG might have pathophysiology distinctly different from that of febrile seizures. Comprehensive knowledge in discerning febrile and afebrile CwG can help to avoid unnecessary diagnostics tests, and anticonvulsants use.

Emergency room visits and admission rates of children with neuromuscular disorders: A 10-year experience in a medical center in Taiwan.

BACKGROUND: No previous studies have explored emergency medical care for children with chronic neuromuscular disorders (NMDs). We aimed to determine the major reasons for the emergency room (ER) readmission of pediatric patients with NMDs and suggest changes to the care plan to decrease readmissions. METHODS: Children with chronic NMDs (aged <18 years) who visited a medical center-based ER between January 2005 and January 2015 were included. The following data were extracted from the patient's ER records: presentations; demographic data, including sex and age; NMD diagnosis; triage classification; emergency examination; initial management and outcomes. The outcomes were death inside or outside the ER, admission to the ward or pediatric intensive care unit (PICU), uneventful discharge, and repeated ER visits. RESULTS: In 10 years, 44 children with heterogeneous NMDs (boys/girls: 30/14, mean age: 9.9 years) visited the ER for a total of 204 times. Repeated ER visits and readmissions occurred in 56.8% and 55.6% of the patients, respectively. Most NMD children belonged to triage class 3 (35.3%), with underlying congenital hereditary muscular dystrophy (44.1%). The major symptoms were usually multiple and concurrent, and primarily respiratory (62.3%) or gastrointestinal (28.9%). The most common causes of hospitalization were pneumonia (48.5%) or acute gastritis (20.4%), and approximately half of the ER visits required further hospitalization, of which 28.2% involved PICU admission. Twenty of the 36 children admitted to the ER required readmission. The most commonly prescribed examinations were complete blood count (38%) and C-reactive protein (38%), and the most common therapy was intravenous fluid administration (34%). Although respiratory compromise caused most ER visits and admissions, pulmonary assessments, including chest films (28%), pulse oximetry (15%), and blood gas analysis (11%), were performed in a relatively small proportion. CONCLUSION: The ER staff must recognize patients' unmet needs for respiratory and gastrointestinal care related to underlying NMDs.

Spontaneous hemopneumothorax simulating acute abdominal affections.

Spontaneous hemopneumothorax (SHP) is a rare potentially life-threatening condition that occurs in predominantly young adolescents. The resultant massive hemorrhage leading to hypovolemic shock can be a surgical emergency. It constitutes 1-12% of all spontaneous pneumothoraces and presents with two cardinal features, chest pain and dyspnea. However, the pain of SHP may be confined to the abdomen secondary to the irritation of diaphragmatic pleura, which produces signs simulating an acute abdomen. SHP masquerading as an abdominal affection is apparently regarded as extremely rare. We present a case of a 16-year-old male with SHP presenting features simulating acute gallbladder disease. After prompt diagnosis with appropriate surgical intervention, he had an uneventful recovery. Our experience emphasizes the importance of careful and thorough chest examination for each child with atypical pictures for abdominal pain to exclude possible extra-abdominal lesions, even rare as SHP.