Rapid Access Scheduler: A Web-Based System for Direct Provider Scheduling to Pediatric Neurology.

Purpose of Review: Access to pediatric neurology care is limited, and outpatient waits can exceed 6 months. The referral process is often complex and burdensome. Our objective was to trial a program for scheduling access to pediatric neurology, to be controlled and accessed directly by outside providers. Recent Findings: We developed a web-based automated system, "Rapid Access Scheduler" (RASr), for direct scheduling by outside providers. RASr is built around a calendar view that allows the provider to see and reserve an available slot at the time of care. Once a slot is reserved, the scheduling team contacts the family to finalize scheduling. Summary: The RASr system is a novel approach for facilitating pediatric neurology patient access through direct scheduling by outside providers using a web-based portal. Advantages of this include control and responsibility by outside providers, easy visibility of availability, and opportunity to inform patients and families at their point-of-care.

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

Importance: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes. Objective: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. Design, Setting, and Participants: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a pathogenic/likely pathogenic (P/LP) variant were included in the study. Case report forms were completed by all health care professionals. Exposures: Genetic test results. Main Outcomes and Measures: Clinical management changes after a genetic diagnosis (ie, 1 P/LP variant in autosomal dominant and X-linked diseases; 2 P/LP variants in autosomal recessive diseases) and subsequent patient outcomes as reported by health care professionals on case report forms. Results: Among 418 patients, median (IQR) age at the time of testing was 4 (1-10) years, with an age range of 0 to 52 years, and 53.8% (n = 225) were female individuals. The mean (SD) time from a genetic test order to case report form completion was 595 (368) days (range, 27-1673 days). A genetic diagnosis was associated with changes in clinical management for 208 patients (49.8%) and usually (81.7% of the time) within 3 months of receiving the result. The most common clinical management changes were the addition of a new medication (78 [21.7%]), the initiation of medication (51 [14.2%]), the referral of a patient to a specialist (48 [13.4%]), vigilance for subclinical or extraneurological disease features (46 [12.8%]), and the cessation of a medication (42 [11.7%]). Among 167 patients with follow-up clinical information available (mean [SD] time, 584 [365] days), 125 (74.9%) reported positive outcomes, 108 (64.7%) reported reduction or elimination of seizures, 37 (22.2%) had decreases in the severity of other clinical signs, and 11 (6.6%) had reduced medication adverse effects. A few patients reported worsening of outcomes, including a decline in their condition (20 [12.0%]), increased seizure frequency (6 [3.6%]), and adverse medication effects (3 [1.8%]). No clinical management changes were reported for 178 patients (42.6%). Conclusions and Relevance: Results of this cross-sectional study suggest that genetic testing of individuals with epilepsy may be materially associated with clinical decision-making and improved patient outcomes.

Diagnosis and Management of Suspected Pediatric Autoimmune Encephalitis: A Comprehensive, Multidisciplinary Approach and Review of Literature.

Autoimmune encephalitis is an increasingly recognized entity in children. When treated promptly, favorable outcomes are seen in a majority of pediatric patients. However, recognition of autoimmune encephalitis in young patients is challenging. Once autoimmune encephalitis is suspected, additional difficulties exist regarding timing of treatment initiation and duration of treatment, as evidence to guide management of these patients is emerging. Here, we review available literature regarding pediatric autoimmune encephalitis and present our institution's comprehensive approach to the evaluation and management of the disease. These guidelines were developed through an iterative process involving both pediatric neurologists and rheumatologists.

A ten-year retrospective evaluation of acute flaccid myelitis at 5 pediatric centers in the United States, 2005-2014.

BACKGROUND: Acute flaccid myelitis (AFM) is a severe illness similar to paralytic poliomyelitis. It is unclear how frequently AFM occurred in U.S. children after poliovirus elimination. In 2014, an AFM cluster was identified in Colorado, prompting passive US surveillance that yielded 120 AFM cases of unconfirmed etiology. Subsequently, increased reports were received in 2016 and 2018. To help inform investigations on causality of the recent AFM outbreaks, our objective was to determine how frequently AFM had occurred before 2014, and if 2014 cases had different characteristics. METHODS: We conducted a retrospective study covering 2005-2014 at 5 pediatric centers in 3 U.S. regions. Possible AFM cases aged ≤18 years were identified by searching discharge ICD-9 codes and spinal cord MRI reports (>37,000). Neuroradiologists assessed MR images, and medical charts were reviewed; possible cases were classified as AFM, not AFM, or indeterminate. RESULTS: At 5 sites combined, 26 AFM cases were identified from 2005-2013 (average annual number, 3 [2.4 cases/100,000 pediatric hospitalizations]) and 18 from 2014 (12.6 cases/100,000 hospitalizations; Poisson exact p<0.0001). A cluster of 13 cases was identified in September-October 2014 (temporal scan p = 0.0001). No other temporal or seasonal trend was observed. Compared with cases from January 2005-July 2014 (n = 29), cases from August-December 2014 (n = 15) were younger (p = 0.002), more frequently had a preceding respiratory/febrile illness (p = 0.03), had only upper extremities involved (p = 0.008), and had upper extremity monoplegia (p = 0.03). The cases had higher WBC counts in cerebrospinal fluid (p = 0.013). CONCLUSION: Our data support emergence of AFM in 2014 in the United States, and those cases demonstrated distinctive features compared with preceding sporadic cases.

Outcome and Cost of Inpatient Hospitalization for Intravenous Dihydroergotamine Treatment of Refractory Pediatric Headache.

BACKGROUND: To determine the cost and efficacy of admitting patients for intravenous dihydroergotamine treatment and to identify factors associated with a higher likelihood of response to treatment. METHODS: We performed a retrospective review of all pediatric hospitalizations from 2001 to 2010 for intravenous dihydroergotamine therapy for headache. Data were collected using the REDcap database and consisted of multiple variables, including preadmission demographics, headache duration, use of prophylactic medications, inpatient therapies including dihydroergotamine dosing, procedures, consultations, total hospital cost, and headache severity at discharge and at follow-up. RESULTS: Seventy-four percent of the 145 individuals who were hospitalized were female. Mean age was 14.9 years. Headache was described as chronic or daily in almost all patients and 28 (19%) had status migrainosus. Sixty-six percent had a first-degree relative with migraine. The average length of stay was 3.7 days, and the average cost was $7569 per hospitalization. Patients received an average of eight doses of dihydroergotamine. At the time of discharge, 63% of patients reported improvement. Follow-up information was available for 68% of the cohort at a median of 42 days after discharge, and 21 of 99 patients (21%) experienced sustained relief of headache. Response to dihydroergotamine was correlated with a lower rate of comorbid diagnoses, lumbar puncture, and outpatient neuroimaging. Response also correlated to less expensive hospitalizations with an average cost of $5379 per hospitalization versus $7105 per hospitalization without positive response. Response was also correlated with a patient receiving more doses of intravenous dihydroergotamine. CONCLUSIONS: Although intravenous dihydroergotamine is an effective abortive medication for intractable migraine, it may provide only short-term headache relief in many pediatric patients. Hospitalization is relatively costly with only modest long-term benefit, especially in patients with chronic migraine or chronic daily headache.

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

BACKGROUND: Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. RESULTS: We report a new presentation of a patient found to have Canavan disease; brain magnetic resonance imaging (MRI) revealed white matter cytotoxic edema, indicative of an acute active destructive process. We performed a comprehensive review of published cases of Canavan disease reporting brain MRI findings, and found that cytotoxic brain edema is frequently reported in early Canavan disease. CONCLUSIONS: Our results and the literature review support the notion of an acute phase in Canavan disease progression. These findings suggest that there is a window available for therapeutic intervention and support the need for early identification of patients with Canavan disease.

Educational Intervention Improves Compliance With AAN Guidelines for Return Epilepsy Visits: A Quality Improvement Project.

In 2011, the American Academy of Neurology (AAN) released guidelines for return seizure visits detailing 8 points that should be addressed during such visits. These guidelines are designed to improve routine follow-up care for epilepsy patients. The authors performed a quality improvement project aimed at increasing compliance with these guidelines after educating providers about them. The authors performed a chart review before and after an intervention which included: education regarding the guidelines, providing materials to remind providers of the guidelines, and templates to facilitate compliance. The authors reviewed charts at 2 and 6 months after the intervention. Significant improvement in documentation of 4 of the 8 measures was observed after this educational intervention. This suggests that simple educational interventions may help providers change practice and can improve compliance with new guidelines while requiring minimal time and resources to implement.

Recognition and Management of Acute Flaccid Myelitis in Children.

BACKGROUND: In 2014-2015, several regions of the United States experienced an outbreak of acute flaccid myelitis in pediatric patients. A common, unique feature was disease localization to the gray matter of the spinal cord. METHODS: We report 11 children, ages 13 months to 14 years (median 9 years), in the Intermountain West who presented with extremity weakness (n = 10) or cranial neuropathy (n = 1) of varying severity without an apparent etiology. RESULTS: All children experienced acute paralysis, and 10 had symptoms or signs that localized to the spinal cord. Maximum paralysis occurred within 4 days of onset in all patients. All had spinal gray matter lesions consistent with acute myelitis detected by magnetic resonance imaging; no single infectious cause was identified. Despite therapy with intravenous immunoglobulin, corticosteroids, or plasma exchange, nine of 10 (90%) children had motor deficits at follow-up. CONCLUSIONS: Recognition of this disorder enables clinicians to obtain appropriate imaging and laboratory testing, initiate treatment, and provide families with accurate prognostic information. In contrast to other causes of acute flaccid paralysis in childhood, most children with acute flaccid myelitis have residual neurological deficits.