Zachary M. Grinspan

Response To Treatment In A Prospective National Infantile Spasms Cohort.

Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia. Secondarily, it assesses whether response to treatment differs by etiology or developmental status.

Early-life epilepsies and the emerging role of genetic testing

Importance Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established. Objective To provide a contemporary account of the patterns of use and diagnostic yield of genetic testing for early-life epilepsies. Design, Setting, and Participants In this prospective cohort, children with newly diagnosed epilepsy with an onset at less than 3 years of age were recruited from March 1, 2012, to April 30, 2015, from 17 US pediatric hospitals and followed up for 1 year. Of 795 families approached, 775 agreed to participate. Clinical diagnosis of the etiology of epilepsy were characterized based on information available before genetic testing was performed. Added contributions of cytogenetic and gene sequencing investigations were determined. Exposures Genetic diagnostic testing. Main Outcomes and Measures Laboratory-confirmed pathogenic variant. Results Of the 775 patients in the study (367 girls and 408 boys; median age of onset, 7.5 months [interquartile range, 4.2-16.5 months]), 95 (12.3%) had acquired brain injuries. Of the remaining 680 patients, 327 (48.1%) underwent various forms of genetic testing, which identified pathogenic variants in 132 of 327 children (40.4%; 95% CI, 37%-44%): 26 of 59 (44.1%) with karyotyping, 32 of 188 (17.0%) with microarrays, 31 of 114 (27.2%) with epilepsy panels, 11 of 33 (33.3%) with whole exomes, 4 of 20 (20.0%) with mitochondrial panels, and 28 of 94 (29.8%) with other tests. Forty-four variants were identified before initial epilepsy presentation. Apart from dysmorphic syndromes, pathogenic yields were highest for children with tuberous sclerosis complex (9 of 11 [81.8%]), metabolic diseases (11 of 14 [78.6%]), and brain malformations (20 of 61 [32.8%]). A total of 180 of 446 children (40.4%), whose etiology would have remained unknown without genetic testing, underwent some testing. Pathogenic variants were identified in 48 of 180 children (26.7%; 95% CI, 18%-34%). Diagnostic yields were greater than 15% regardless of delay, spasms, and young age. Yields were greater for epilepsy panels (28 of 96 [29.2%]; P < .001) and whole exomes (5 of 18 [27.8%]; P = .02) than for chromosomal microarray (8 of 101 [7.9%]). Conclusions and Relevance Genetic investigations, particularly broad sequencing methods, have high diagnostic yields in newly diagnosed early-life epilepsies regardless of key clinical features. Thorough genetic investigation emphasizing sequencing tests should be incorporated into the initial evaluation of newly presenting early-life epilepsies and not just reserved for those with severe presentations and poor outcomes.

Effects of health information technology on patient outcomes: a systematic review

OBJECTIVE To systematically review studies assessing the effects of health information technology (health IT) on patient safety outcomes. MATERIALS AND METHODS The authors employed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement methods. MEDLINE, Cumulative Index to Nursing Allied Health (CINAHL), EMBASE, and Cochrane Library databases, from 2001 to June 2012, were searched. Descriptive and comparative studies were included that involved use of health IT in a clinical setting and measured effects on patient safety outcomes. RESULTS Data on setting, subjects, information technology implemented, and type of patient safety outcomes were all abstracted. The quality of the studies was evaluated by 2 independent reviewers (scored from 0 to 10). A total of 69 studies met inclusion criteria. Quality scores ranged from 1 to 9. There were 25 (36%) studies that found benefit of health IT on direct patient safety outcomes for the primary outcome measured, 43 (62%) studies that either had non-significant or mixed findings, and 1 (1%) study for which health IT had a detrimental effect. Neither the quality of the studies nor the rate of randomized control trials performed changed over time. Most studies that demonstrated a positive benefit of health IT on direct patient safety outcomes were inpatient, single-center, and either cohort or observational trials studying clinical decision support or computerized provider order entry. DISCUSSION AND CONCLUSION Many areas of health IT application remain understudied and the majority of studies have non-significant or mixed findings. Our study suggests that larger, higher quality studies need to be conducted, particularly in the long-term care and ambulatory care settings.

Physician Specialty and Variations in Adoption of Electronic Health Records

OBJECTIVE Efforts to promote adoption of electronic health records (EHRs) have focused on primary care physicians, who are now expected to exchange data electronically with other providers, including specialists. However, the variation of EHR adoption among specialists is underexplored. METHODS We conducted a retrospective cross-sectional study to determine the association between physician specialty and the prevalence of EHR adoption, and a retrospective serial cross-sectional study to determine the association of physician specialty and the rate of EHR adoption over time. We used the 2005-2009 National Ambulatory Medical Care Survey. We considered fourteen specialties, and four definitions of EHR adoption (any EHR, basic EHR, full EHR, and a novel definition of EHR sophistication). We used multivariable logistic regression, and adjusted for several covariates (geography, practice characteristics, revenue characteristics, physician degree). RESULTS Physician specialty was significantly associated with EHR adoption, regardless of the EHR definition, after adjusting for covariates. Psychiatrists, dermatologists, pediatricians, ophthalmologists, and general surgeons were significantly less likely to adopt EHRs, compared to the reference group of family medicine/general practitioners. After adjustment for covariates, these specialties were 44-94% less likely to adopt EHRs than the reference group. EHR adoption increased in all specialties, by approximately 40% per year. The rate of EHR adoption over time did not significantly vary by specialty. CONCLUSIONS Although EHR adoption is increasing in all specialties, adoption varies widely by specialty. In order to insure each individuals network of providers can electronically share data, widespread adoption of EHRs is needed across all specialties.

Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort

Infantile spasms (IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first‐line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS in children in whom the initial therapy failed to produce both clinical remission and electrographic resolution of hypsarhythmia and whether time to treatment was related to outcome.

People with epilepsy who use multiple hospitals; prevalence and associated factors assessed via a health information exchange.

Hospital crossover occurs when people seek care at multiple hospitals, creating information gaps for physicians at the time of care. Health information exchange (HIE) is technology that fills these gaps, by allowing otherwise unaffiliated physicians to share electronic medical information. However, the potential value of HIE is understudied, particularly for chronic neurologic conditions like epilepsy. We describe the prevalence and associated factors of hospital crossover among people with epilepsy, in order to understand the epidemiology of who may benefit from HIE.

Predicting frequent ED use by people with epilepsy with health information exchange data.

Objectives: To describe (1) the predictability of frequent emergency department (ED) use (a marker of inadequate disease control and/or poor access to care), and (2) the demographics, comorbidities, and use of health services of frequent ED users, among people with epilepsy. Methods: We obtained demographics, comorbidities, and 2 years of encounter data for 8,041 people with epilepsy from a health information exchange in New York City. Using a retrospective cohort design, we explored bivariate relationships between baseline characteristics (year 1) and subsequent frequent ED use (year 2). We then built, evaluated, and compared predictive models to identify frequent ED users (≥4 visits year 2), using multiple techniques (logistic regression, lasso, elastic net, CART [classification and regression trees], Random Forests, AdaBoost, support vector machines). We selected a final model based on performance and simplicity. Results: People with epilepsy who, in year 1, were adults (rather than children or seniors), male, Manhattan residents, frequent users of health services, users of multiple health systems, or had medical, neurologic, or psychiatric comorbidities, were more likely to frequently use the ED in year 2. Predictive techniques identified frequent ED visitors with good positive predictive value (approximately 70%) but poor sensitivity (approximately 20%). A simple strategy, selecting individuals with 11+ ED visits in year 1, performed as well as more sophisticated models. Conclusions: People with epilepsy with 11+ ED visits in a year are at highest risk of continued frequent ED use and may benefit from targeted intervention to avoid preventable ED visits. Future work should focus on improving the sensitivity of predictions.

Quality improvement in neurology: Child neurology quality measure set: Executive summary

Childhood neurologic disorders, as a group, include relatively common conditions such as migraine (prevalence between 3% and 10.6% in children 3–15 years of age1,2), transient tic disorders (TDs) (3%),3 and specifically Tourette syndrome (TS) (0.8%),3 and rarer disorders such as infantile spasms that may occur in only about 1,200 infants each year in the United States. These disorders account for a disproportionately higher number of emergency department visits, intensive care admissions, deaths, and higher costs when compared to other childhood illness.4 Generally, delivery of quality care should improve outcomes and result in decreased unnecessary utilization of health services.4

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium

The multicenter National Infantile Spasms Consortium prospective cohort was used to compare outcomes and phenotypic features of patients with infantile spasms with and without hypsarrhythmia.

Increasing Ketamine Use for Refractory Status Epilepticus in US Pediatric Hospitals

Ketamine is an emerging therapy for pediatric refractory status epilepticus. The circumstances of its use, however, are understudied. The authors described pediatric refractory status epilepticus treated with ketamine from 2010 to 2014 at 45 centers using the Pediatric Hospital Inpatient System database. For comparison, they described children treated with pentobarbital. The authors estimated that 48 children received ketamine and pentobarbital for refractory status epilepticus, and 630 pentobarbital without ketamine. Those receiving only pentobarbital were median age 3 [interquartile range 0-10], and spent 30 [18-52] days in-hospital, including 17 [9-28] intensive care unit (ICU) days; 17% died. Median cost was