COVID-19 in children with neuromuscular disorders Natera-de Benito, Daniel; Aguilera-Albesa, Sergio; Costa-Comellas, Laura ...
Journal of neurology,
09/2021, Letnik:
268, Številka:
9
Journal Article
Recenzirano
Odprti dostop
Objective
Children with neuromuscular disorders have been assumed to be a particularly vulnerable population since the beginning of COVID-19. Although this is a plausible hypothesis, there is no ...evidence that complications or mortality rates in neuromuscular patients are higher than in the general population. The aim of this study is to describe the clinical characteristics and outcome of COVID-19 in children with neuromuscular disorders.
Methods
A registry of children with neuromuscular conditions and laboratory-confirmed-SARS-CoV-2 infection was set up by the Neuromuscular Working Group of the Spanish Pediatric Neurology Society (SENEP). Data to be collected were focused on the characteristics and baseline status of the neuromuscular condition and the course of COVID-19.
Results
Severe complications were not observed in our series of 29 children with neuromuscular disorders infected by SARS-CoV-2. Eighty-nine percent of patients were clinically categorized as asymptomatic or mild cases and 10% as moderate cases. Patients with a relatively more severe course of COVID-19 had SMA type 1 and were between 1 and 3 years.
Conclusions
The course of COVID-19 in children with neuromuscular disorders may not be as severe as expected. The protective role of young age seems to outweigh the risk factors that are common in neuromuscular patients, such as a decreased respiratory capacity or a weak cough. Further studies are needed to know if this finding can be generalized to children with other chronic diseases.
•Ongoing LAMA2-MD natural history studies from 7 countries were reported.•The importance of developing standardised LAMA2-MD registries was acknowledged.•A clinical workgroup on LAMA2-MD was ...formed.•Patient organisations and patient representatives from 9 countries participated in the workshop.•LAMA2-MD therapy development demonstrated substantial progress.•Monthly online research meetings for clinicians, researchers and patient organizations.
The European Joint Programme on Rare Diseases (EJPRD) funded the workshop "LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care professionals, researchers, patient-advocacy groups, Early-Career Scientists and other stakeholders from 14 countries. Progress in natural history, pathophysiology, trial readiness, and treatment strategies was discussed together with efforts to increase patient-awareness and strengthen collaborations. Key outcomes were (a) ongoing natural history studies in 7 countries already covered more than 350 patients. The next steps are to include additional countries, harmonise data collection and define a minimal dataset; (b) therapy development was largely complementary. Approaches included LAMA2-replacement and correction, LAMA1-reactivation, mRNA modulation, linker-protein expression, targeting downstream processes and identifying modifiers, using viral vectors, muscle stem cells, iPSC and mouse models and patient lines; (c) LAMA2-Europe will inform patients (-representatives) worldwide on standards of care and scientific progress, and enable sharing experiences. Follow-up monthly online meetings and research repositories have been established to create sustainable collaborations.
ABSTRACT
Introduction: The manner in which imaging patterns change over the disease course and with increasing disability in dysferlinopathy is not fully understood.
Methods: Fibroadipose ...infiltration of 61 muscles was scored based on whole‐body MRI of 33 patients with dysferlinopathy and represented in a heatmap. We trained random forests to predict disease duration, Motor Function Measure dimension 1 (MFM‐D1), and modified Rankin scale (MRS) score based on muscle scoring and selected the most important muscle for predictions.
Results: The heatmap delineated positive and negative fingerprints in dysferlinopathy. Disease duration was related to infiltration of infraspinatus, teres major–minor, and supraspinatus muscles. MFM‐D1 decreased with higher infiltration of teres major–minor, triceps, and sartorius. MRS related to infiltration of vastus medialis, gracilis, infraspinatus, and sartorius.
Discussion: Dysferlinopathy shows a recognizable muscle MRI pattern. Fibroadipose infiltration in specific muscles of the thigh and the upper limb appears to be an important marker for disease progression. Muscle Nerve 59:436–444, 2019
The facial paralysis is the most frequent paediatric cranial nerve mononeuropathy, being the idiopathic facial nerve neuropathy the most frequent acquired cause. During the neonatal period the ...obstetric traumatic injury is the most frequent and rarely we can recognise a congenital facial paralysis without trauma. Sometimes the dysfunction of cranial nerve VII is manifested by unilateral, partial or complete paralysis of the facial musculature. In new- born babies the facial EMG and nerve conductions studies provides key information to elucidate the degree of facial defects and the also to determine pathogenesis of the facial weakness.
This is a retrospective study where we review patients with pure unilateral congenital facial paralysis diagnosed during the neonatal period without trauma, excluding the Mobius syndrome defined as bilateral congenital facial paralysis associated with other abnormalities.
We review clinical reports and the electromyographic tests: All patients have facial nerve neurographic examinations, EMG with concentric needle tests, and some of them blink reflex to evaluate the degree of facial involvement.
We differentiate a group of patients with a characteristic pattern where mainly the facial nerve lesion seems complete, but the EMG examination and clinical examination is not concordant: Clinically they have a sever facial asymmetry, but preserve orbicularis oris contraction, and some degree of eye closure.
CMAP at the orbicularis oris was absent in all patients, but they have a normal electromyographic pattern at the orbicularis oris supplied by the contralateral healthy facial nerve.
Congenital facial paralysis is a rare entity that frequently involves partially facial nerve, but in some cases the facial nerve lesion are complete and have a peculiar clinical and neurophysiological behaviour.
In complete congenital facial paralysis the Orbicularis oris function is preserved, and the innervation comes from the contralateral facial nerve not damaged.
Some degree of eye closure is also preserved but without no contraction of the orbicularis oculi.
A correct EMG examination can determine the pattern of involvement, can early help or suggest the clinician the MRI indication to understand the nature of the facial nerve lesion and can help to plan adequate facial surgical treatment if it is considered.
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant ...presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS. The diagnosis was confirmed by the detection of a known c.233 T > C mutation in the IER3IP1 gene. Only eight cases of MEDS have been reported in the literature. We reviewed these with the aim of better delineating their clinical manifestations, which should allow earlier and more accurate diagnosis and genetic counseling.
Biallelic GLDN mutations have recently been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). GLDN encodes gliomedin, a protein required for the formation of the nodes ...of Ranvier and development of the human peripheral nervous system. We report six infants and children from four unrelated families with biallelic GLDN mutations, four of whom survived beyond the neonatal period into infancy, childhood, and late adolescence with intensive care and chronic respiratory and nutritional support. Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period.
GLDN encodes gliomedin which is required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. Biallelic GLDN mutations have been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). Here, we report 6 additional infants and children with biallelic GLDN mutations and arthrogryposis, some of whom survived into infancy, childhood and even late adolescence with chronic respiratory and nutritional support.
The mitochondrial DNA m.13513G>A mutation in the ND5 subunit gene is a frequent cause of Leigh syndrome. Patients harboring this mutation typically present with ptosis and cardiac conduction ...abnormalities, particularly Wolff-Parkinson-White syndrome, and have a late clinical onset, which contrasts with the typical infantile form. The authors describe a patient presenting with intrauterine growth retardation and visual impairment at 3 months of age, followed by infantile spasms, severe gastrointestinal dysmotility, and neurological regression. The patient had hyperlactacidemia and bilateral basal ganglia and brainstem lesions on MRI. Although he did not present cardiac conduction abnormalities, his mother had been diagnosed with Wolff-Parkinson-White syndrome. The m.13513G>A mutation was found in the patient’s muscle and in several tissues of his mother. The present results expand the phenotype of Leigh syndrome associated with the m.13513G>A mutation, which should be suspected in patients with early-onset mitochondrial encephalopathy with infantile spasms or prominent gastrointestinal smooth muscle involvement.
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