Developmental medicine and child neurology
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Dev Med Child Neurol · Jan 2019
ReviewNusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps.
Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); it affects 1 in 11 000 newborn infants. The most severe and most common form, type 1 SMA, is associated with early mortality in most cases and severe disability in survivors. Nusinersen, an antisense oligonucleotide, promotes production of full-length protein from the pseudogene SMN2. ⋯ Different knowledge gaps, such as results in older patients, in patients with permanent ventilation, in patients with neonatal forms, or in patients after spinal fusion, still need to be addressed. WHAT THIS PAPER ADDS: Identifies gaps in knowledge about the efficacy of nusinersen in broader populations of patients with spinal muscular atrophy. Identifies open questions in populations of patients where proof of efficacy is available.
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Dev Med Child Neurol · Jan 2019
ReviewProtection of brain development by antenatal magnesium sulphate for infants born preterm.
Cerebral palsy (CP) remains the most significant neurological disorder associated with preterm birth. It disrupts quality of life and places huge cost burdens on society. Antenatal magnesium sulphate administration to females before 32 weeks' gestation has proven to be an effective intervention to reduce the rate of CP. ⋯ WHAT THIS PAPER ADDS: Neuroprotective effect of magnesium sulphate to reduce cerebral palsy in infants born preterm when administered to females at risk of imminent preterm birth. Neuroprotection regardless of gestational age, cause of preterm birth, and total dose. Antenatal magnesium sulphate treatment has good cost-effectiveness.