Faculty Bibliography

OBJECTIVE:Administrative codes to identify people with rare epilepsies in electronic health records are limited. The current study evaluated the use of keyword search as an alternative method for rare epilepsy cohort creation using electronic health records data. METHODS:Data included clinical notes from encounters with International Classification of Diseases, Ninth Revision (ICD-9) codes for seizures, epilepsy, and/or convulsions during 2010-2014, across six health care systems in New York City. We identified cases with rare epilepsies by searching clinical notes for keywords associated with 33 rare epilepsies. We validated cases via manual chart review. We compared the performance of keyword search to manual chart review using positive predictive value (PPV), sensitivity, and F-score. We selected an initial combination of keywords using the highest F-scores. RESULTS:Data included clinical notes from 77 924 cases with ICD-9 codes for seizures, epilepsy, and/or convulsions. The all-keyword search method identified 6095 candidates, and manual chart review confirmed that 2068 (34%) had a rare epilepsy. The initial combination method identified 1862 cases with a rare epilepsy, and this method performed as follows: PPV median = .64 (interquartile range [IQR] = .50-.81, range = .20-1.00), sensitivity median = .93 (IQR = .76-1.00, range = .10-1.00), and F-score median = .71 (IQR = .63-.85, range = .18-1.00). Using this method, we identified four cohorts of rare epilepsies with over 100 individuals, including infantile spasms, Lennox-Gastaut syndrome, Rett syndrome, and tuberous sclerosis complex. We identified over 50 individuals with two rare epilepsies that do not have specific ICD-10 codes for cohort creation (epilepsy with myoclonic atonic seizures, Sturge-Weber syndrome). SIGNIFICANCE:Keyword search is an effective method for cohort creation. These findings can improve identification and surveillance of individuals with rare epilepsies and promote their referral to specialty clinics, clinical research, and support groups.

BACKGROUND:Neurology faculty care for complex patients, teach, and work within multidisciplinary teams. It is imperative for faculty to have strong communication skills. METHODS:We surveyed NYU neurology teaching faculty to determine levels of comfort and experience over the past year with providing negative feedback to a trainee; debriefing after an adverse clinical outcome; and assisting a struggling colleague. We examined the relationship between levels of comfort and experience with 1) faculty self-identified sex and 2) number of years since completion of medical training. RESULTS:The survey was completed by 36/83 teaching neurology faculty (43 %); 17 (47 %) respondents were female and 21 (58 %) were ≤10 years post-training. The proportions of faculty who reported feeling uncomfortable were 44 % (16/36) for assisting a struggling colleague, 28 % (10/36) for providing negative feedback, and 19 % (7/36) for debriefing an adverse outcome. Proportions of faculty who reported they had no experience were 75 % (27/36) for assisting a struggling colleague, 39 % (14/36) for debriefing an adverse clinical event, and 17 % (6/36) for providing negative feedback. Female respondents and faculty who were ≤10 years post-training were more likely to report feeling uncomfortable with assisting a struggling colleague and to have had no experience doing so in the past year. On multivariate analyses accounting for sex and experience, sex remained independently associated with feeling uncomfortable with assisting a struggling colleague (OR = 12.2, 95 % CI: 2.1-69.6, p = 0.005). CONCLUSION/CONCLUSIONS:Faculty development may be needed to improve comfort and experience with challenging communication-based interactions. Female faculty and faculty early in their careers may benefit most.

BACKGROUND:We summarize the history of individuals with Sturge-Weber syndrome (SWS) to inform clinical trial design and identify variations in care. METHODS:We performed retrospective chart review of individuals with SWS from centers in New York City. We characterized data quality using a novel scoring system. For 13 clinical concepts, we evaluated if data were present and if they were of high quality. RESULTS:We included 26 individuals with SWS (58% female; median age at initial visit 7 years; absolute range 1 month to 56 years]). Twenty-two had nevus flammeus, 13 glaucoma, four homonymous hemianopia, and 15 hemiparesis. Nineteen of 21 had at least one confirmed seizure with a known first seizure date, all before 24 months. Most (18 of 26, 69%) epilepsy was controlled. A plurality (10 of 23, 43%) had either normal cognitive function or mild cognitive delays. Aspirin use varied by site (P = 0.02)-at four sites, use was 0% (zero of three), 0% (zero of four), 80% (four of five), and 64% (nine of 14). Data were present for more than 75% of cases for 11 of 13 clinical concepts (missing: age of diagnosis, age of glaucoma onset). There were gaps in level of detail for motor impairments, glaucoma severity, seizure history, cognition, and medication history. CONCLUSIONS:Clinical charts have important gaps in the level of detail around core SWS clinical features, limiting value for some natural history studies. Any clinical trial in SWS designed to prevent epilepsy should begin in the first year of life. Variations in use of aspirin suggest de facto clinical equipoise and warrant a comparative effectiveness study.

BACKGROUND:Our objective was to characterize the frequency, early impact, and risk factors for neurological manifestations in hospitalized children with acute severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection or multisystem inflammatory syndrome in children (MIS-C). METHODS:Multicenter, cross-sectional study of neurological manifestations in children aged <18 years hospitalized with positive SARS-CoV-2 test or clinical diagnosis of a SARS-CoV-2-related condition between January 2020 and April 2021. Multivariable logistic regression to identify risk factors for neurological manifestations was performed. RESULTS:Of 1493 children, 1278 (86%) were diagnosed with acute SARS-CoV-2 and 215 (14%) with MIS-C. Overall, 44% of the cohort (40% acute SARS-CoV-2 and 66% MIS-C) had at least one neurological manifestation. The most common neurological findings in children with acute SARS-CoV-2 and MIS-C diagnosis were headache (16% and 47%) and acute encephalopathy (15% and 22%), both P < 0.05. Children with neurological manifestations were more likely to require intensive care unit (ICU) care (51% vs 22%), P < 0.001. In multivariable logistic regression, children with neurological manifestations were older (odds ratio [OR] 1.1 and 95% confidence interval [CI] 1.07 to 1.13) and more likely to have MIS-C versus acute SARS-CoV-2 (OR 2.16, 95% CI 1.45 to 3.24), pre-existing neurological and metabolic conditions (OR 3.48, 95% CI 2.37 to 5.15; and OR 1.65, 95% CI 1.04 to 2.66, respectively), and pharyngeal (OR 1.74, 95% CI 1.16 to 2.64) or abdominal pain (OR 1.43, 95% CI 1.03 to 2.00); all P < 0.05. CONCLUSIONS:In this multicenter study, 44% of children hospitalized with SARS-CoV-2-related conditions experienced neurological manifestations, which were associated with ICU admission and pre-existing neurological condition. Posthospital assessment for, and support of, functional impairment and neuroprotective strategies are vitally needed.

BACKGROUND:Neurologists need to be adept at disclosing prognosis and breaking bad news. Objective structured clinical examinations (OSCE) allow trainees to practice these skills. METHODS:In 2017, in conjunction with the NYU School of Medicine Simulation Center, neurology faculty designed an OSCE case in which a resident had to inform a standardized patient (SP) her father had severe global hypoxic ischemic injury. The residents were surveyed on the experience using a Likert scale from 1 (worst) to 5 (best). The SP completed a behavioral anchored checklist and marked items as "not done," "partly done," or "well done". RESULTS:57 third and fourth year neurology residents completed the case from 2018 to 2020, 54 (95%) of whom completed the post-OSCE survey. Residents reported feeling moderately prepared for the simulation (mean Likert score 3.7/5), and thought their performance was average (3.4/5). Overall, they found the case to be very helpful (4.6/5). The residents performed well in the realms of maintaining professionalism (64% rated "well done"), developing a relationship (62% rated "well done"), and information gathering (61% rated "well done"). There was room for improvement in the realms of providing education and presenting the bad news (39% and 37% rated "partly/not done," respectively). CONCLUSIONS:OSCE cases can be used to teach neurology trainees how to discuss prognosis and break bad news. Feedback about this simulation was positive, though its efficacy has yet to be evaluated and could be a future direction of study.

OBJECTIVE:We aimed to describe how often and why clinicians counsel people with epilepsy about sudden unexpected death in epilepsy (SUDEP). Understanding counseling gaps can help design interventions. METHODS:We searched clinical notes of 77,924 patients from 2010 to 2014 from six hospitals to find examples of SUDEP counseling and seizure safety counseling. Visits were coded for patient, clinician, and visit factors, and documented reasons for counseling. We evaluated factors associated with SUDEP vs. seizure safety counseling, and reasons for counseling using bivariate and multivariable statistics. Reasons for counseling included: poor medication adherence, lifestyle factors (e.g., poor sleep, drinking alcohol), patient/family reluctance to make recommended medication adjustment, epilepsy surgery considerations, and patient education only. RESULTS:(4, n = 996) = 3.81, p = 0.43. Adult neurologists were more likely to document SUDEP counseling than pediatric (OR = 1.65, 95% CI = 1.12-2.44). Most SUDEP counseling was documented with a goal of seizure reduction (214 of 332, 64.5%), though some was for patient education only (118 of 332, 35.5%). By the time SUDEP counseling was documented, the majority of patients had refractory epilepsy (187 of 332, 56.3%) and/or a potentially modifiable risk factor (214 of 332, 64.5%). Neurologists with more years of clinical experience (OR = 2.18, 95% CI = 1.12-4.25) and more senior academic titles (OR = 2.25, 95% CI = 1.27-3.99) were more likely to document SUDEP counseling for patient education only. People with ≥2 anti-seizure medications (ASM) were more likely to receive counseling for patient education (OR = 2.72, 95% CI = 1.49-4.97). CONCLUSIONS:Documentation of SUDEP is rare, and varies by clinician, hospital, and patient factors. Efforts to increase SUDEP counseling should focus on junior clinicians, and emphasize starting the conversation soon after onset of epilepsy.

Based on a multicenter cohort of people with anti-NMDA receptor encephalitis (anti-NMDARE), we describe seizure phenotypes, electroencephalographic (EEG) findings, and anti-seizure treatment strategies. We also investigated whether specific electrographic features are associated with persistent seizures or status epilepticus after acute presentation. In this retrospective cohort study, we reviewed records of children and adults with anti-NMDARE between 2010 and 2014 who were included in the Rare Epilepsy of New York City database, which included the text of physician notes from five academic medical centers. Clinical history (e.g., seizure semiology) and EEG features (e.g., background organization, slowing, epileptiform activity, seizures, sleep architecture, extreme delta brush) were abstracted. We compared clinical features associated with persistent seizures (ongoing seizures after one month from presentation) and status epilepticus, using bivariate and multivariable analyses. Among the 38 individuals with definite anti-NMDARE, 32 (84%) had seizures and 29 (76%) had seizures captured on EEG. Electrographic-only seizures were identified in five (13%) individuals. Seizures started at a median of four days after initial symptoms (IQR: 3-6 days). Frontal lobe-onset focal seizures were most common (n=12; 32%). Most individuals (31/38; 82%) were refractory to anti-seizure medications. Status epilepticus was associated with younger age (15 years [9-20] vs. 23 years [18-27]; p=0.04) and Hispanic ethnicity (30 [80%] vs. 8 [36%]; p=0.04). Persistent seizures (ongoing seizures after one month from presentation) were associated with younger age (nine years [3-14] vs. 22 years [15-28]; p<0.01). Measured electrographic features were not associated with persistent seizures. Seizures associated with anti-NMDARE are primarily focal seizures originating in the frontal lobes. Younger patients may be at increased risk of epileptogenesis and status epilepticus. Continuous EEG monitoring helps identify subclinical seizures, but specific EEG findings may not predict the severity or persistence of seizures during hospitalization.

Nocturnal events of wide variety and concern are frequently reported by patients and their caregivers. To evaluate suspected abnormal events, primary care physicians must first be familiar with normal behaviors, movements and breathing patterns. Abnormal nocturnal events can then be categorized as nocturnal seizure, parasomnia, sleep-related movement disorder or sleep-related breathing disorder. Diagnoses in the above categories can be made clinically; however, it is important to know when to refer for additional evaluation. Comprehensive literature review was undertaken of nocturnal and sleep-related disorders. This guide reviews nocturnal seizures, normal and abnormal nonepileptic movements and behaviors, discusses broad indications for referral for electroencephalography (EEG) or polysomnography (PSG), and guides counseling and management for patients and their families, ultimately aiding in interpretation of both findings and prognosis. Epilepsy syndromes can result in seizures during sleep or adjacent periods of wakefulness. Parasomnias and sleep-related movement disorders tend to also occur in childhood and may be distinguished clinically. Referral to additional specialists for specific studies including EEG or PSG can be necessary, while other times a knowledgeable and vigilant clinician can contribute to a prompt diagnosis based on clinical features. Nocturnal events often can be managed with parental reassurance and watchful waiting, but treatment or evaluation may be needed. Sleep-related breathing disorders are important to recognize as they present very differently in children than in adults and early intervention can be life-saving. This review should allow both primary and subspecialty non-neurologic pediatric and adolescent health care providers to better utilize EEG and PSG as part of a larger comprehensive clinical approach, distinguishing and managing both epileptic and nonepileptic nocturnal disorders of concern while fostering communication across providers to facilitate and coordinate better holistic long-term care of pediatric and adolescent patients.