Journal of child neurology
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To identify factors parents considered in treatment decision making for children diagnosed with spinal muscular atrophy on newborn screening. ⋯ Treatment frequency and administration method were the most important factors for parents in determining spinal muscular atrophy treatment. Parents felt positively about newborn screening due to opportunity for earlier treatment.
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Many childhood neurologic conditions are first diagnosed in the perinatal period and shorten or seriously alter the lives of affected infants. Neonatal neuropalliative care incorporates core practices and teachings of both neurology and palliative care and is directed toward patients and families affected by serious neurologic conditions in the antenatal and immediate newborn period. ⋯ We explore 4 core domains of neuropalliative care: (1) family-centered communication, (2) prognostication, (3) decision making, and (4) pain and symptom management. We address special considerations in care at the end of life and in varied cultural and practice contexts.
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Examine ophthalmologic outcomes and complications of lumbar drain and cerebrospinal fluid shunts in pediatric fulminant intracranial hypertension. ⋯ Temporary lumbar drain with medical therapy may be a viable first approach to fulminant intracranial hypertension.
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To evaluate the effect of the COVID-19 pandemic on global access to care and practice patterns for children with epilepsy. ⋯ In response to COVID-19, pediatric epilepsy programs have implemented crisis standards of care that include increased telemedicine, decreased EEG use, changes in treatments of infantile spasms, and cessation of epilepsy surgery. The long-term impact of these abrupt changes merit careful study.
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Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at birth, and is typically fatal within weeks. We describe the case of a patient with spinal muscular atrophy type 0 who was treated with both nusinersen and onasemnogene abeparvovec. ⋯ Although she has had motor improvements, she has also had continued systemic complications from her spinal muscular atrophy, including chronic respiratory failure, dysphagia, congenital heart malformation, digit necrosis, and diffuse macular rash. This case highlights the challenges in treating those with more severe disease phenotypes and raises questions of how some systemic complications may respond to current SMN replacement therapies.