Journal of child neurology
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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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During the past two decades the focus on sport concussion has increased significantly. Young athletes represent the most vulnerable population to sustain a sport concussion yet receive the least amount of attention. ⋯ The purpose of this review is to provide a clinical framework for the evaluation and management of sport concussion. In addition, this review provides considerations for health care professionals in regard to clinical measures and follow-up strategies during the acute phase following concussion in young concussed athletes following injury.
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Review Case Reports
Guillain-Barré Syndrome in a Boy With Lung Fluke Infection: Case Report and Literature Review.
Guillain-Barré syndrome is the most common acute peripheral neuropathy in children in most countries. The cause and pathogenesis of the disease have yet to be clarified. There have been only a few reports of Guillain-Barré syndrome resulting from parasite infections worldwide, no cases of Guillain-Barré syndrome after lung fluke infection have been reported. ⋯ The patient experienced paralysis of and pain in the lower limbs about 3 weeks after symptom onset. Neurologic and electrophysiologic examination findings supported the diagnosis of Guillain-Barré syndrome. Parasitic infections should also be considered when determining which antecedent infection is associated with Guillain-Barré syndrome.
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Abusive head trauma has a robust and interesting scientific history. Recently, the American Academy of Pediatrics has endorsed a change in terminology to a term that is more general in describing the vast array of abusive mechanisms that can result in pediatric head injury. Simply defined, abusive head trauma is "child physical abuse that results in injury to the head or brain." Abusive head trauma is a relatively common cause of childhood neurotrauma, with an estimated incidence of 16 to 33 cases per 100,000 children per year in the first 2 years of life. ⋯ Longitudinal studies of outcomes in abusive head trauma patients demonstrate that approximately one-third of the children are severely disabled, one third of them are moderately disabled, and one third have no or only mild symptoms. Abusive head trauma cases are complex cases that require a rigorous, multidisciplinary team approach. The clinician can establish this diagnosis with confidence if he/she maintains a high index of suspicion for the diagnosis, has knowledge of the signs, symptoms, and risk factors of abusive head trauma, and reasonably excludes other etiologies on the differential diagnosis.
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Neuroimaging is commonly used for the assessment of children with traumatic brain injury and has greatly advanced how children are acutely evaluated. More recently, emphasis has focused on how advanced magnetic resonance imaging methods can detect subtler injuries that could relate to the structural underpinnings of the neuropsychological and behavioral alterations that frequently occur. We examine several methods used for the assessment of pediatric brain injury. ⋯ These methods are more sensitive than conventional imaging in demonstrating subtle injury that underlies a child's clinical symptoms. There also is an increasing desire to develop computational methods to fuse imaging data to provide a more integrated analysis of the extent to which components of the neurovascular unit are affected. The future of traumatic brain injury neuroimaging research is promising and will lead to novel approaches to predict and improve outcomes.