Journal of child neurology
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Traumatic brain injury remains a leading cause of morbidity and mortality in children. Key pathophysiologic processes of traumatic brain injury are initiated by mechanical forces at the time of trauma, followed by complex excitotoxic cascades associated with compromised cerebral autoregulation and progressive edema. Acute care focuses on avoiding secondary insults, including hypoxia, hypotension, and hyperthermia. ⋯ Child neurologists can play an important role in acute and long-term care. Acutely, as members of a multidisciplinary team in the intensive care unit, child neurologists monitor for early signs of neurological change, guide neuroprotective therapies, and transition patients to long-term recovery. In the longer term, neurologists are uniquely positioned to treat complications of moderate and severe traumatic brain injury, including epilepsy and cognitive and behavioral issues.
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Head injuries are common in pediatrics, and headaches are the most common complaint following mild head trauma. Although moderate and severe traumatic brain injuries occur less frequently, headaches can complicate recovery. ⋯ While there are few studies on the treatment of posttraumatic headache, proper evaluation and management of posttraumatic headaches is essential to prevent further injury and to promote recovery. In this article, we will review the current definitions and epidemiology of pediatric posttraumatic headache and discuss current recommendations for the evaluation and management of this syndrome in children and adolescents.
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Phelan-McDermid syndrome or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by generalized developmental delay, intellectual disability, absent or delayed speech, seizures, autism spectrum disorder, neonatal hypotonia, physical dysmorphic features, and recurrent medical comorbidities. Individuals with Phelan-McDermid syndrome have terminal deletions of the chromosomal region 22q13.3 encompassing SHANK3, a gene encoding a structural component of excitatory synapses indispensable for proper synaptogenesis and neuronal physiology, or point mutations within the gene. ⋯ We also provide an overview on the evidence from genetic studies and mouse models that supports SHANK3 haploinsufficiency as a major contributor of the neurobehavioral manifestations of Phelan-McDermid syndrome. Finally, we discuss how all these discoveries are uncovering the pathophysiology of Phelan-McDermid syndrome and are being translated into clinical trials for novel therapeutics ameliorating the core symptoms of the disorder.
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Convulsive status epilepticus is a common neurologic emergency in pediatrics. We aimed to study the etiology, clinical features, and prognostic factors among pediatric patients with convulsive status epilepticus. Seventy patients were included in this cohort study from pediatric emergency department of the specialized Children Hospital of Cairo University. ⋯ Refractory convulsive status epilepticus was observed more significantly in cases caused by acute symptomatic etiologies. The outcome was mortality in 26 (37.1%) patients, severe disability in 15 (21.4%), moderate disability in 17 (24.3%), and good recovery in 12 (17.1%) patients. The significant predictor of mortality was lower modified Glasgow Coma Scale score on admission, whereas lower modified Glasgow Coma Scale score on admission and refractory convulsive status epilepticus were the significant predictors for disability and mortality.
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The primary objectives of this study were to determine the prevalence of nonconvulsive seizures and nonconvulsive status epilepticus in patients with abusive head trauma who underwent electroencephalography (EEG) monitoring and to describe predictive factors for this population. Children with a diagnosis of abusive head trauma were studied retrospectively to determine the rate of EEG monitoring, the rate of nonconvulsive seizures and nonconvulsive status epilepticus, and the associated neuroimaging findings. Over 11 years, 73 of 199 (36.8%) children with abusive head trauma had electroencephalography monitoring performed. ⋯ The presence of subarachnoid hemorrhage and cortical T2 / fluid-attenuated inversion recovery signal abnormalities were both significantly associated with the presence of nonconvulsive seizures / nonconvulsive status epilepticus. Nonconvulsive seizures are relatively common in abusive head trauma and may go unrecognized. Specific neuroimaging characteristics increase the likelihood of nonconvulsive seizures on EEG.