The current treatment of concussion or mild traumatic brain injury (mTBI) is primarily based on expert consensus. Most clinical practice guidelines advise cognitive and physical rest after injury including withdrawal from normal life activities such as school attendance, sports participation, and technology use until symptoms resolve. Some individuals who sustain an mTBI experience persistent physical, cognitive, and mental health problems. Activity restriction itself may contribute to protracted recovery and other complications. Williamson's Activity Restriction Model of Depression, formulated more than 20 years ago, is central to this hypothesis. We review research evidence for potential harms of prolonged activity restriction and report an mTBI case as an example of how an "activity restriction cascade" can unfold. According to this model, psychological consequences of removal from validating life activities, combined with physical deconditioning, contribute to the development and persistence of postconcussive symptoms after mTBI in some youth. A modification to mTBI guidelines that emphasizes prompt reengagement in life activities as tolerated is encouraged.

Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful tool for the identification of pathogenic variants leading to Mendelian disorders, among which NDD represent a significant percentage. Performing WES with a trio-approach has proven to be extremely effective in identifying de novo pathogenic variants as a common cause of NDD. Here we report six unrelated individuals with a common phenotype consisting of NDD with severe speech delay, hypotonia, and facial dysmorphism. These patients underwent WES with a trio approach and de novo heterozygous predicted pathogenic novel variants in the KAT6A gene were identified. The KAT6A gene encodes a histone acetyltransfrease protein and it has long been known for its structural involvement in acute myeloid leukemia; however, it has not previously been associated with any congenital disorder. In animal models the KAT6A ortholog is involved in transcriptional regulation during development. Given the similar findings in animal models and our patient's phenotypes, we hypothesize that KAT6A could play a role in development of the brain, face, and heart in humans. © 2016 Wiley Periodicals, Inc.

Rotavirus infection is a frequent cause of gastroenteritis in children and accounts for significant morbidity and mortality, especially in the developing world. Less well recognized is the association of rotavirus-induced central nervous system dysfunction, which has been associated with seizure, encephalopathy, and death. Symptoms may vary widely, however, and children can experience short afebrile convulsions as the only manifestation of rotavirus encephalopathy. We report 4 further cases of rotavirus-induced seizures with mild neurologic manifestations. The condition is reviewed and practical management strategies are suggested.

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Objective. To report the effect of botulinum toxin A in two patients with burning pain and allodynia of spinal cord origin.Design, Setting, Patients. Two patients with spinal cord lesions at the cervical level (tumor and stroke) experienced exquisite skin sensitivity and spontaneous burning pain in dermatomes corresponding to the cord lesions. Botulinum toxin A (Botox ® ) was injected subcutaneously at multiple points (16 to 20 sites, 5 units/site) in the area of burning pain and allodynia.Results. Both patients reported significant improvement in spontaneous burning pain and allodynia in visual analogue scale and clinical measures. The analgesic effect of botulinum toxin A lasted at least 3 months and was sustained over follow-up periods of 2 and 3 years with repeated administration at 4-month intervals.Conclusion. Subcutaneous application of botulinum toxin A relieved central burning pain and allodynia in two patients with spinal cord pathology.