Abstract:Objective:To examine if telemedicine remains safe and of high quality despite rapid expansion of services by comparing telemedicine encounters prior to and during COVID 19 pandemic.Methods:Pre-post study investigating 2999 telemedicine encounters: 2/1/2020 - 5/15/2020. 2919 completed visits before and after strict social distancing implementation were analyzed for patient and provider characteristics, encounter characteristics (history, physical exam, etc) and quality and safety metrics (phone calls <=7 days post visit, visit- cause specific hospital admission or mortality <=30 days after visit). Stratified analysis of 3 groups for outcomes (young age, neuromuscular diagnosis and new encounters) was performed.Results:Patients ranging from 1 month old to 33 years were seen. Rural patients were less likely to be seen during pandemic compared to urban patients(8 % vs 90% p< 0.0001); teaching clinic and specialty clinic encounters increased significantly during pandemic ( 8% vs 3% ; p=0.005), documentation of at least two systems on exam was noted significantly more frequently during pandemic ( 13% vs 7%; p=0.009). No deaths were reported. There were no differences pre/ during pandemic for safety or telemedicine failure metrics within entire group and high-risk subgroupsConclusions:Despite a markedly and rapidly expanded scope of ambulatory telemedicine care during the COVID19 pandemic, telemedicine remained a safe and high-quality option for pediatric neurology patients. Additionally, populations perceived as high risk for telemedicine (the very young, new patients and those with neuromuscular diagnoses) can benefit from telemedicine visits, particularly when access to in-person care is limited.

ImportanceIt 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.ObjectiveTo evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.Design, Setting, and ParticipantsThis 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.ExposuresGenetic test results.Main Outcomes and MeasuresClinical 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.ResultsAmong 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 RelevanceResults 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.

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