Predictive value of video alone in diagnosis of epileptic vs paroxysmal nonepileptic events in children.

Objective: Previous studies examined the use of video-based diagnosis and the predictive value of videos for differentiation of epileptic seizures (ES) from paroxysmal nonepileptic events (PNEE) in the adult population. However, there are no such published studies strictly on the pediatric population. Using video-EEG diagnosis as a gold standard, we aimed to determine the diagnostic predictive value of videos of habitual events with or without additional clinical data in differentiating the PNEE from ES in children.

Assessment of Pediatric Pseudotumor Cerebri Clinical Characteristics and Outcomes.

Pseudotumor cerebri also known as idiopathic intracranial hypertension is a relatively uncommon disorder of unknown pathophysiology. Although pseudotumor cerebri occurs in both children and adults, the pseudotumor cerebri literature is heavily dominated by adult studies. The aim of this study is to retrospectively describe the clinical presentation, imaging, treatment, and outcomes of a large pediatric pseudotumor cerebri population over a 23-year period.

Spinal Cord Infarction in Hemoglobin SC Disease as an Amusement Park Accident.

Spinal cord infarction (SCI) is extremely rare in children, and only 2 other reports have described the occurrence of SCI in patients with hemoglobin SC disease (HbSC). Amusement park accidents are serious injuries. Patients with preexisting conditions, such as hypertension, cardiac disease, and recent back or neck injuries, may be at an increased risk.

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.

Genomic rearrangements involving AUTS2 (7q11.22) are associated with autism and intellectual disability (ID), although evidence for causality is limited. By combining the results of diagnostic testing of 49,684 individuals, we identified 24 microdeletions that affect at least one exon of AUTS2, as well as one translocation and one inversion each with a breakpoint within the AUTS2 locus.

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

We report the identification of a recurrent, 520-kb 16p12.1 microdeletion associated with childhood developmental delay. The microdeletion was detected in 20 of 11,873 cases compared with 2 of 8,540 controls (P = 0.