Seminars in pediatric neurology
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Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood and has high morbidity and mortality. Three different disease-modifying treatments were introduced in the last 4 years: nusinersen, onasemnogene abeparvovec, and risdiplam. These agents have demonstrated safety and efficacy, but their long-term benefits require further study. Newborn screening programs are enabling earlier diagnosis and treatment and better outcomes, but respiratory care and other supportive measures retain a key role in the management of spinal muscular atrophy. Ongoing efforts seek to optimize gene therapy vectors, explore new therapeutic targets beyond motor neurons, and evaluate the role of combination therapy.
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Semin Pediatr Neurol · Feb 2016
ReviewTrigeminal Autonomic Cephalalgias in Children and Adolescents: Cluster Headache and Related Conditions.
Cluster headache is a primary headache disorder that can occur in children and adolescents, and is a member of the broader diagnostic group of trigeminal autonomic cephalalgias. It is characterized by repeated attacks typically lasting between 15 and 180 minutes of severe unilateral side-locked headache with cranial autonomic features. ⋯ Preventive measures typically start with the use of verapamil. The other trigeminal autonomic cephalalgias, paroxysmal hemicrania, short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT), and short-lasting unilateral neuralgiform headache with cranial autonomic features (SUNAA), have also been reported in children, and should be considered when the clinical presentation is at all unusual.
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Children and adolescents with chronic daily headaches (CDH) often have comorbid psychological conditions, though their prevalence is unclear. Pediatric patients with CDH may have higher rates of disorders such as anxiety and depression. ⋯ Several validated screening tools have recently been used in studies of pediatric patients with CDH. Once identified, treatment of comorbid psychological conditions may lead to improved functioning and headache outcomes.
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Concussion and mild traumatic brain injury are common injuries in pediatrics, and posttraumatic headache is the most common complaint following them. Although most children and teens recover from a simple, isolated concussion without incidents within 1-2 weeks, some develop symptoms that can last for months. ⋯ In this article, we review the definitions, epidemiology, and current recommendations for the evaluation and treatment of acute and persistent posttraumatic headaches. Although this is still a developing field and there is much that we still need to learn about concussion and the best strategies to prevent and treat these injuries and their sequelae, we hope that this review will help providers to understand the current evidence and treatment recommendations to improve care for children with concussion and mild traumatic brain injury.
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Semin Pediatr Neurol · Sep 2015
Review Case ReportsEthical Issues in Neuroprognostication after Severe Pediatric Brain Injury.
Neurologic outcome prediction, or neuroprognostication, after severe brain injury in children is a challenging task and has many ethical dimensions. Neurologists and intensivists are frequently asked by families to predict functional recovery after brain injury to help guide medical decision making despite limited outcome data. Using two clinical cases of children with severe brain injury from different mechanisms: hypoxic-ischemic injury secondary to cardiac arrest and traumatic brain injury, this article first addresses the importance of making a correct diagnosis in a child with a disorder of consciousness and then discusses some of the clinical challenges with deducing an accurate and timely outcome prediction. ⋯ We highlight the need to focus on how to elicit family values for a brain injured child, how to manage prognostic uncertainty, and how to effectively communicate with families in these challenging situations. We offer guidance for physicians when they have diverging views from families on aggressiveness of care or feel pressured to prognosticate with in a "window of opportunity" for limiting or withdrawing life sustaining therapies. We conclude with a discussion of the potential influence of emerging technologies, specifically advanced functional neuroimaging, on neurologic outcome prediction after severe brain injury.