Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean-Yves Hogrel, Giovanni Baranello, Adnan Manzur, UK NorthStar Clinical Network and Francesco Muntoni* on behalf of the iMDEX network.
Males with Duchenne muscular dystrophy aged 5 years to 18 years were subdivided according to the predicted effects of the participants' DMD mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140/Dp71 present; group 2, Dp427/Dp140 absent, Dp71 present).
Predicted reduced Dp140 expression was associated with reduced grip and pinch strength.
Predicted reduced Dp140 expression was associated with reduced forced vital capacity percent predicted.
GMFM-66-IS scores were supported by strong construct validity and moderate responsiveness evidence for use with infants and toddlers at high risk for CP.
This systematic review examined the association and diagnostic accuracy of MRI acquired < 36 weeks postmenstral age to detect cerebral palsy and other adverse motor outcomes at or beyond 3 years corrected age in infants born preterm.
We looked at the physical activity levels of 497 preschool children who were either typically developing, at risk of developmental coordination disorder (DCDr), or with probable DCD (pDCD). We assessed physical activity using accelerometry and machine learning. We found that daily time spent in sedentary, light, and moderate-to-vigorous physical activity did not differ between the typically developing, DCDr, and pDCD groups, however the pDCD and DCDr groups accumulated less time in ambulatory activities (walking/running) than typically developing children.
Hypoxic-ischemic encephalopathy (HIE) is a neurologic condition that is caused by insufficient oxygen and blood flow to a newborn infant’s brain. Although therapeutic hypothermia can reduce the degree of brain injury in some infants with HIE, many infants with HIE will have significant lifelong disabilities despite receiving this treatment. Several promising novel neuroprotective agents targeting specific biochemical mechanisms of injury are under clinical investigation in infants with HIE. This review focuses on putative neuroprotective agents that have shown promise in animal models of HIE, and that have been translated to clinical studies in neonates with HIE. We include agents that have been studied both with and without concurrent therapeutic hypothermia. Our review therefore addresses not just neonatal HIE in high-resource countries where therapeutic hypothermia is the standard of care, but also neonatal HIE in low- and middle-income countries where therapeutic hypothermia has been shown to be ineffective, and where the greatest burden of HIE-related morbidity and mortality exists.
Detailed neurobehavioral phenotyping using the neurobehavioral evaluation tool (NET) caregiver-report survey scales was conducted across seven study groups.
This original article is commented by Dieu and Briganti on pages559–560 of this issue.
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