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 · Feb 2016
The Comorbidity of Migraine and Epilepsy in Children and Adolescents.
Migraine and epilepsy share a number of clinical attributes, including pathophysiology and clinical expression. Both are paroxysmal in nature and thus constitute episodic disorders, yet either may be chronic and/or recurrent. Epileptic seizures and migraine headaches may be mistaken one for the other and may even overlap. ⋯ In this article, we review the relationship between migraine and epilepsy, including the known genetic contributions to both conditions, prodromal, ictal, and postictal headache and shared pathophysiology and treatment options. We describe clinical conditions in which both migraine and epilepsy are prominent features. Lastly, we discuss electronecephaographic abnormalities that have been known to occur in individuals with migraine.