Objective: Spinal muscular atrophy (SMA) is a common rare neuromuscular disease responsible for very high mortality during infancy and high morbidity during childhood and adolescence. It is caused by autosomal recessive mutations in the survival motor neuron gene. In 2016, the Food and Drug Administration approved the first disease modifying therapy for use in all patients of any age. Nusinersen is an antisense oligonucleotide that showed dramatic benefits with achievement of motor milestones in infants and improved gross motor function in children. Methods: This was a retrospective chart review of all SMA patients seen at a single site between 2016 and 2020 for treatment with nusinersen. Results: We report 8 patients who underwent placement of an Ommaya reservoir and lumbosacral catheter for drug delivery. Complications included infection and revisions due to catheter separation. One patient required fluoroscopy for injections because of location of port site. Conclusion: We conclude that placement of an Ommaya port is a viable option for patients who have challenges for access to intrathecal space. Practical innovations have the potential to control administration costs, achieve therapeutic value, and promote patient safety.

Since the emergence of SARS-CoV-2, several studies have been published describing neuromuscular manifestations of the disease, as well as management of pre-existing pediatric neuromuscular disorders during the COVID-19 pandemic. These disorders include muscular dystrophies, myasthenic syndromes, peripheral nerve disorders, and spinal muscular atrophy. Such patients are a vulnerable population due to frequent complications such as scoliosis, cardiomyopathy, and restrictive lung disease that put them at risk of severe complications of COVID-19. In this review, neuromuscular manifestations of COVID-19 in children and the management of pre-existing pediatric neuromuscular disorders during the COVID-19 pandemic are discussed. We also review strategies to alleviate pandemic-associated disruptions in clinical care and research, including the emerging role of telemedicine and telerehabilitation to address the continued special needs of these patients.

It is well known that cardiorespiratory failure is the main cause of mortality in Duchenne muscular dystrophy (DMD). Because of the progressive muscle weakness, patients usually develop loss of ambulation (LOA) early in the second decade of life. Corticosteroids (CSs) and multidisciplinary management are the current standards of care; in addition, some patients are amenable to exon-skipping treatments. It has been well established that CSs delay LOA, preserve upper limb and respiratory function, and reduce the need for scoliosis surgery. [1][2][3][4] The effects of CSs after LOA have not been well characterized and warrant further study. In the article by Butterfield et al in this issue, 5 the authors sought to study the cardio-pulmonary effects of CS treatment after LOA in patients with DMD. They extracted data from MD STARnet on 398 non-ambulatory males from 2004 to 2012 for at least 1 y beyond LOA. Pulmonary function was measured by percent predicted forced vital capacity (ppFVC). The authors found that pulmonary decline was delayed in boys who continued treatment with CSs for ≥1 y after LOA, compared to those who never received treatment or stopped treatment within 1 y of LOA. They concluded that treatment delayed decline in lung function but that this benefit did not persist beyond LOA as the time from LOA to the first ppFVC <50% was the same in all three groups.Most previous studies are in agreement. A study performed in 91 non-ambulatory DMD patients (mean age, 16.8 y) reported similar

Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neuronal migration during fetal development. These mutations lead to lissencephaly, or the appearance of a “smooth brain,” which is varying levels of pachygyria or agyria in severe cases. Many genetic variants of the mutation have been identified, and an even greater range of phenotypic presentations have been described in the literature. The X-linked lissencephaly (DCX) mutation leads to an X-linked gender-dependent condition that causes subcortical heterotopia in females and lissencephaly in males. The authors report the case of a 13-year-old male who presented to our clinic for new-onset seizure disorder. He had a past medical history of developmental delay and features of autism spectrum disorder which was diagnosed at age 5 years at an outside clinic. Magnetic resonance imaging (MRI) brain at age 5 years showed pachygyria of the frontal and temporal lobes. After extensive genetic testing over the course of over a decade, the patient was found to have a de novo mutation in the DCX gene diagnosed via whole-exome sequencing. Specifically, he was found to have a mosaic mutation of the DCX gene as a c.30-31 deletion. His previous MRI findings were consistent with a diagnosis of X-linked sporadic lissencephaly sequence and included mainly a diffuse bilateral pachygyria (isolated lissencephaly sequence X chromosome). Thickening of the cortex and pachygyria or agyria are classic findings of lissencephaly, but do not help specify any mutation in the gene, of which there are over 70 possibilities. Our patient is unique in that most individuals with DCX mutation have infantile seizures, severe intellectual disability, orthopedic complications, and postnatal microcephaly, which our patient does not have.

We report an 18‐month‐old infant with ischemic stroke, neurocognitive impairment, and psychomotor retardation in the setting of severe iron deficiency anemia. Although an uncommon outcome in anemic children, stroke is important to consider as a cause for developmental delay in children with iron deficiency anemia.