Summary Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. Methods We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics Clinic. Electronic patient charts were reviewed for clinical features, neuroimaging, biochemical investigations, and molecular genetic investigations including targeted next‐generation sequencing of epileptic encephalopathy genes. Results Genetic causes were identified in 28% of the 110 patients: 7% had inherited metabolic disorders including pyridoxine dependent epilepsy caused by ALDH7A1 mutation, Menkes disease, pyridox(am)ine‐5‐phosphate oxidase deficiency, cobalamin G deficiency, methylenetetrahydrofolate reductase deficiency, glucose transporter 1 deficiency, glycine encephalopathy, and pyruvate dehydrogenase complex deficiency; 21% had other genetic causes including genetic syndromes, pathogenic copy number variants on array comparative genomic hybridization, and epileptic encephalopathy related to mutations in the SCN1A, SCN2A, SCN8A, KCNQ2, STXBP1, PCDH19, and SLC9A6 genes. Forty‐five percent of patients obtained a genetic diagnosis by targeted next‐generation sequencing epileptic encephalopathy panels. It is notable that 4.5% of patients had a treatable inherited metabolic disease. Significance To the best of our knowledge, this is the first study to combine inherited metabolic disorders and other genetic causes of epileptic encephalopathy. Targeted next‐generation sequencing panels increased the genetic diagnostic yield from <10% to >25% in patients with epileptic encephalopathy.

In pediatric CSVT, ACT appears safe. Nontreatment with ACT is associated with thrombus propagation, observed in (1/4) of untreated neonates and over (1/3) of children. Anticoagulants merit strong consideration in pediatric CSVT.

Background and Purpose-The Pediatric Stroke Outcome Measure (PSOM) is an objective, disease-specific outcome measure containing 115 test items suitable for newborn to adult ages. The PSOM measures neurological deficit and function across 5 subscales: right sensorimotor, left sensorimotor, language production, language comprehension, and cognitive/behavior yielding a final 10-point deficit score. The goal of this study was to examine PSOM construct validity in measuring neurological outcome in pediatric stroke survivors and interrater reliability (IRR) for both prospective and retrospective scoring. Methods-For construct validity, PSOM subscale scores were correlated with scores on standardized neuropsychological measures matched by functional domain. We assessed IRR by comparing same-day "live" PSOM scores from 2 independent raters in 10 children (prospective IRR) and by comparing PSOM scores estimated from medical dictations across 5 raters in another 10 children (retrospective IRR). Key Words: outcome measures Ⅲ pediatric stroke Ⅲ PSOM Ⅲ validation study S troke during childhood is an increasingly recognized cause of significant long-term morbidity that creates a substantial burden of illness per affected individual. 1 Childhood stroke incidence is 5 to 8 per 100 000 children annually with approximately 50% ischemic including arterial ischemic stroke (AIS) or cerebral sinovenous thrombosis (CSVT). 2,3 Neonatal incidence is higher at 1 in 3000 to 5000 live births. 4,5 Resultant neurological deficits are reported in 50% to 90% of children and include motor, language, and cognitive deficits. 1,6 -10 Outcomes research and clinical trials require a feasible, valid, and reliable outcome measure in pediatric stroke. Results-WeOutcome measures developed for diffuse cerebral pediatric disorders including cerebral palsy, HIV, adrenoleukodystrophy, and head trauma 1 may be insensitive to the focal and sometimes mild deficits that result from pediatric stroke. The Rankin Scale, Barthel Index, and other adult stroke scales 11 are not applicable to young children due to their reliance on self-reporting and independence in activities of daily living. Finally, across the adult years, expected performance is similar in contrast to children in whom abilities change considerably with maturation from infancy to teenage years.The Pediatric Stroke Outcome Measure (PSOM) is an objective disease-specific measure of neurological recovery after childhood stroke. The PSOM was developed and implemented from 1994 in a prospective outcome study in our institutional Children's Stroke Clinic in Toronto, Canada. 1,12 Currently, the PSOM is also in use in the International Pediatric Stroke Study 13 and multiple other pediatric stroke studies. 8,14,15 Received October 3, 2011; accepted February 10, 2012 Methods Subject SelectionBeginning in 1994, children diagnosed with acute AIS or CSVT at the Hospital for Sick Children, Toronto, Canada, were prospectively enrolled in a longitudinal pediatric stroke outcome study. Children with outcome assess...