No abstract

Level III.

Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) have distinct genetic etiologies but overlapping phenotypes. Genetic testing may be required for accurate diagnosis, which is critical for determining prognosis, screening recommendations, and treatment options. Our study aimed to compare the efficacy of germline-only versus paired (germline and tumor) genetic testing for clarifying the diagnosis in patients with features of NF2 and SWN. We performed a retrospective chart review of patients referred for NF2/SWN genetic testing at Massachusetts General Hospital from 2015 to 2020. Logistic regression analysis was performed to assess factors associated with diagnostic clarity. Overall, paired testing had 8.5 times greater odds of providing diagnostic clarity than germline-only testing (p < 0.01). Among patients who underwent paired testing, those who had analysis of two or more tumors had the greatest likelihood of gaining diagnostic clarity, with odds 13 times greater than patients who underwent germline-only testing (p < 0.01). Paired testing with analysis of one tumor significantly increased the odds of diagnostic clarity over germline-only testing by a factor of 6.5 (p < 0.01). These results have implications for genetic testing strategies and counseling patients about genetic testing utility. They also support the routine use of testing in individuals with suspected NF2 or SWN and improved insurance coverage for paired testing within this population.

OBJECTIVES: To establish statewide consensus priorities for safer in-person school for children with medical complexity (CMC) during the coronavirus disease 2019 (COVID-19) pandemic using a rapid, replicable, and transparent priority-setting method. METHODS: We adapted the Child Health and Nutrition Research Initiative Method, which allows for crowdsourcing ideas from diverse stakeholders and engages technical experts in prioritizing these ideas using predefined scoring criteria. Crowdsourcing surveys solicited ideas from CMC families, school staff, clinicians and administrators through statewide distribution groups/listservs using the prompt: “It is safe for children with complex health issues and those around them (families, teachers, classmates, etc.) to go to school in-person during the COVID-19 pandemic if/when…” Ideas were aggregated and synthesized into a unique list of candidate priorities. Thirty-four experts then scored each candidate priority against 5 criteria (equity, impact on COVID-19, practicality, sustainability, and cost) using a 5-point Likert scale. Scores were weighted and predefined thresholds applied to identify consensus priorities. RESULTS: From May to June 2021, 460 stakeholders contributed 1166 ideas resulting in 87 candidate priorities. After applying weighted expert scores, 10 consensus CMC-specific priorities exceeded predetermined thresholds. These priorities centered on integrating COVID-19 safety and respiratory action planning into individualized education plans, educating school communities about CMC’s unique COVID-19 risks, using medical equipment safely, maintaining curricular flexibility, ensuring masking and vaccination, assigning seats during transportation, and availability of testing and medical staff at school. CONCLUSIONS: Priorities for CMC, identified by statewide stakeholders, complement and extend existing recommendations. These priorities can guide implementation efforts to support safer in-person education for CMC.

The traditional methods of education, while once revolutionary, are failing to keep pace in the twenty-first century. OPENPediatrics™ has created an interactive, virtual training and knowledge exchange platform to enhance the quality of pediatric critical care. It has the potential to revolutionize the post-graduate medical education model. Designed by experienced physicians at Boston Children's Hospital, in collaboration with IBM Interactive, it offers asynchronous interactive learning and various avenues for knowledge sharing outside the walls of individual institutions. It is creating a digital, global community, based on adult learning principles, provided at no cost to the user.