Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.

OBJECTIVE: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD). METHODS: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD. RESULTS: Infants identified by newborn screening with possible KD should enter one of three clinical follow-up pathways (Early infantile KD, at-risk for LOKD, or unaffected), based on galactocerebrosidase (GALC) activity, psychosine concentration, and GALC genotype. Patients considered at-risk for LOKD based on low GALC activity and an intermediate psychosine concentration are further split into a high-risk or low-risk follow-up pathway based on genotype. Review of the historical New York State cohort found that the updated follow-up recommendations would reduce follow up testing by 88%. CONCLUSION: The KD NBS Council has presented updated consensus recommendations for efficient and effective classification and follow-up of NBS positive patients with a focus on long-term follow-up of those at-risk for LOKD.

Virtual Residency Interview Experience: The Child Neurology Residency Program Perspective.

BACKGROUND: The COVID-19 pandemic presented many challenges for graduate medical education, including the need to quickly implement virtual residency interviews. We investigated how different programs approached these challenges to determine best practices. METHODS: Surveys to solicit perspectives of program directors, program coordinators, and chief residents regarding virtual interviews were designed through an iterative process by two child neurology residency program directors. Surveys were distributed by email in May 2021. Results were summarized using descriptive statistics. RESULTS: Responses were received from 35 program directors and 34 program coordinators from 76 programs contacted. Compared with the 2019-2020 recruitment season, in 2020-2021, 14 of 35 programs received >10% more applications and most programs interviewed ≥12 applicants per position. Interview days were typically five to six hours long and were often coordinated with pediatrics interviews. Most programs (13/15) utilized virtual social events with residents, but these often did not allow residents to provide quality feedback about applicants. Program directors could adequately assess most applicant qualities but felt that virtual interviews limited their ability to assess applicants' interpersonal communication skills and to showcase special features of their programs. Most respondents felt that a combination of virtual and in-person interviewing should be utilized in the future. CONCLUSIONS: Residency program directors perceived some negative impacts of virtual interviewing on their recruitment efforts but in general felt that virtual interviews adequately replaced in-person interviews for assessing applicants. Most programs felt that virtual interviewing should be utilized in the future.

Adult Neurology Rotations for Child Neurology Residents: Exploring the Resident Perspective.

BACKGROUND: In 2014 the Accreditation Council for Graduate Medical Education modified adult training requirements for child neurology certification to reduce the number of hospital-based rotations and require inclusion of outpatient clinic and electives. We aimed to identify how these training requirements are being met and explored its impact on residents. METHODS: A REDCap questionnaire surveying resident opinion on impact of adult training on resident education, professional development, and wellness was e-mailed to 79 program directors in the United States for distribution in 2020. Results were analyzed using descriptive statistics and t test calculations. Qualitative analysis of narrative responses involved theme identification. RESULTS: A total of 116 child neurology residents participated (30.2% PGY-3, 37.9% PGY-4, and 31.9% PGY-5 residents); 20.9% had all adult rotations during the PGY-3 year, and 79.1% had adult rotations spread throughout residency. Adult training had a small positive impact on resident autonomy and a negative impact on resident wellness regardless of training structure. However, residents with 12 months of adult training during PGY-3 year scored worse on burnout, mood changes, work-life balance, and social well-being (P < 0.05). Some themes identified included residents feeling unsafe due to lack of supervision, that education was not prioritized, and that adult patient care lacked relevance to long-term career goals. CONCLUSIONS: Adult neurology training was found to negatively affect child neurology resident wellness, with a larger negative impact when adult training was completed in 12 months during PGY-3 year. Other identified areas where change could be implemented include improving feelings of resident safety and prioritizing quality and relevance of education.

Adult Neurology Rotations for Child Neurology Residents: A Survey of Program Directors.

BACKGROUND AND OBJECTIVES: We aimed to identify how child neurology and neurodevelopmental disabilities residency program directors (PDs) implemented revised Accreditation Council for Graduate Medical Education requirements for adult neurology training for child neurology residents. Before 2014, the American Board of Psychiatry and Neurology certification for child neurology required an adult year, with no specified rotation requirements. At that point, programs scheduled a median of 10 months of adult neurology rotations during the third postgraduate year (PGY-3). In 2014, the adult neurology requirements were modified to include 6 months of hospital-based, 3 months of outpatient, and 3 months of other elective (may include neurophysiology, neuropathology, and/or neuroradiology) rotations. However, the effects of these changes on child neurology residency training nationally have not been characterized. METHODS: A 16-item online survey was emailed to 79 PDs in the United States in September 2020. Survey responses were collected from September to October 2020. Descriptive statistics were calculated, and associations with departmental affiliation (pediatrics/neurology), graduate medical education (GME) funding source, and program size were compared using nonparametric tests. RESULTS: The response rate was 72% (53 pediatric neurology, 3 neurodevelopmental disabilities). The median adult months per year of training were as follows: 9 PGY-3, 2 PGY-4, and 1 PGY-5. Nearly all had both hospital inpatient and consult rotations with night and/or weekend shifts; 57% included neurocritical care and 36% epilepsy monitoring units. 48% of programs scheduled night and weekend shifts (including 25% that scheduled 24-hour calls) for residents on outpatient and elective rotations. Few programs required adult neurophysiology (20%), neuropathology (32%), or neuroradiology (25%). Programs with children's hospital GME funding (for either 2 or 3 years) tended to be larger (p = 0.008). Otherwise, departmental affiliation, funding source, and program size were not associated with rotation timing. DISCUSSION: Most child neurology residency programs still consolidate adult training in the PGY-3 year and often schedule additional hospital shifts during outpatient and elective months. However, there is a small shift toward adult neurology rotations occurring in the PGY-4 and PGY-5. Departmental affiliation, funding source, and program size do not consistently affect training practices. Few programs mandate adult neurophysiology, neuropathology, or neuroradiology rotations.

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.

Krabbe disease (KD) is a rare inherited neurodegenerative disorder caused by a deficiency in galactocerebrosidase enzyme activity, which can present in early infancy, requiring an urgent referral for hematopoietic stem cell transplantation, or later in life. Newborn screening (NBS) for KD requires identification and risk-stratification of patients based on laboratory values to predict disease onset in early infancy or later in life. The biomarker psychosine plays a key role in NBS algorithms to ascertain probability of early-onset disease. This report describes a patient who was screened positive for KD in New York State, had a likely pathogenic genotype, and showed markedly reduced enzyme activity but surprisingly low psychosine levels. The patient ultimately developed KD in late infancy, an outcome not clearly predicted by existing NBS algorithms. It remains critical that psychosine levels be evaluated alongside genotype, enzyme activity levels, and the patient's evolving clinical presentation, ideally in consultation with experts in KD, in order to guide diagnosis and plans for monitoring.

Education Research: The Narrative Evaluation Quality Instrument: Development of a tool to assess the assessor.

OBJECTIVE: Determining the quality of narrative evaluations to assess medical student neurology clerkship performance remains a challenge. This study sought to develop a tool to comprehensively and systematically assess quality of student narrative evaluations. METHODS: The Narrative Evaluation Quality Instrument (NEQI) was created to assess several components within clerkship narrative evaluations: performance domains, specificity, and usefulness to learner. In this retrospective study, 5 investigators scored 123 narrative evaluations using the NEQI. Inter-rater reliability was estimated by calculating interclass correlation coefficients (ICC) across 615 NEQI scores. RESULTS: The average overall NEQI score was 6.4 (SD 2.9), with mean component arm scores of 2.6 for performance domains (SD 0.9), 1.8 for specificity (SD 1.1), and 2.0 for usefulness (SD 1.4). Each component arm exhibited moderate reliability: performance domains ICC 0.65 (95% confidence interval [CI] 0.58-0.72), specificity ICC 0.69 (95% CI 0.61-0.77), and usefulness ICC 0.73 (95% CI 0.66-0.80). Overall NEQI score exhibited good reliability (0.81; 95% CI 0.77-0.86). CONCLUSION: The NEQI is a novel, reliable tool to comprehensively assess the quality of narrative evaluation of neurology clerks and will enhance the study of interventions seeking to improve clerkship evaluation.

Education Research: Positive effect of scheduled faculty modeling on clerkship student bedside skills exposure and learning.

OBJECTIVE: To evaluate the effect of scheduled bedside skills modeling for third-year medical students on their neurology clerkship. METHODS: During the 2012-2014 academic years, 56 third-year medical students participated in a curricular pilot program involving a scheduled bedside skills modeling experience during the first week of their neurology clerkship, whereas 131 students underwent the typical rotation. The experience consisted of observing a faculty member conduct a comprehensive encounter on a new outpatient. To promote active learning, students were provided an observation guide to document questions and observations. An anonymous survey was conducted at the end of each clerkship block assessing student exposure to bedside skills modeling. Using qualitative thematic analysis, observation guide statements were transcribed and coded into emergent learning themes. RESULTS: A total of 57.4% (95% confidence interval [CI] 43.3%-71.5%) of students in the modeling group reported observing both a comprehensive history and neurologic examination vs 37.5% (95% CI 28.2%-46.8%) in the nonmodeling groups (p = 0.023). A total of 253 observation statements were transcribed and coded from the observation guides. The most common learning themes included (1) strategies for performing a neurologic examination, (2) techniques for eliciting a neurologic history, and (3) importance of detail and thoroughness of the history and examination. CONCLUSIONS: Our study demonstrated that there was a significant increase in structured observation by students of neurologic bedside skills with the inclusion of a scheduled modeling experience, and we provide a qualitative description of the most common learning themes associated with this experience.

Formal faculty observation and assessment of bedside skills for 3rd-year neurology clerks.

OBJECTIVE: To evaluate the feasibility and utility of instituting a formalized bedside skills evaluation (BSE) for 3rd-year medical students on the neurology clerkship. METHODS: A neurologic BSE was developed for 3rd-year neurology clerks at the University of Rochester for the 2012-2014 academic years. Faculty directly observed 189 students completing a full history and neurologic examination on real inpatients. Mock grades were calculated utilizing the BSE in the final grade, and number of students with a grade difference was determined when compared to true grade. Correlation was explored between the BSE and clinical scores, National Board of Medical Examiners (NBME) scores, case complexity, and true final grades. A survey was administered to students to assess their clinical skills exposure and the usefulness of the BSE. RESULTS: Faculty completed and submitted a BSE form for 88.3% of students. There was a mock final grade change for 13.2% of students. Correlation coefficients between BSE score and clinical score/NBME score were 0.36 and 0.35, respectively. A statistically significant effect of BSE was found on final clerkship grade (F2,186 = 31.9, p < 0.0001). There was no statistical difference between BSE score and differing case complexities. CONCLUSIONS: Incorporating a formal faculty-observed BSE into the 3rd year neurology clerkship was feasible. Low correlation between BSE score and other evaluations indicated a unique measurement to contribute to student grade. Using real patients with differing case complexity did not alter the grade.