RESUMO
Variants in the RNA binding protein (RBP) U2AF2 are hypothesized to cause a novel neurodevelopmental disorder. Here, we report a patient with a de novo missense variant in U2AF2, the second case report of the same variant, and third case report overall. The patient in this report has a history of global developmental delay, dysmorphic features, and epilepsy. This presentation is consistent with the previous case report with the same U2AF2 variant and with a recent case report of another U2AF2 variant, strengthening the evidence that variants in U2AF2 are the cause of a novel neurodevelopmental disorder.
Assuntos
Epilepsia , Deficiência Intelectual , Anormalidades Musculoesqueléticas , Transtornos do Neurodesenvolvimento , Criança , Humanos , Deficiências do Desenvolvimento/genética , Transtornos do Neurodesenvolvimento/genética , Mutação de Sentido Incorreto/genética , Epilepsia/diagnóstico , Epilepsia/genética , Deficiência Intelectual/genética , Fator de Processamento U2AF/genéticaRESUMO
OBJECTIVE: To determine whether there is a disparity in access to telemedical care that may be a function of socioeconomic status, language, or other demographic factors during the peak of the coronavirus disease 2019 (COVID-19) pandemic at a highly affected urban center (Montefiore Medical Center) in Bronx, NY. METHODS: We retrospectively investigated potential patient characteristics that might be associated with an increased likelihood of receiving a telephone visit as opposed to a televideo visit for patients followed in the pediatric neurology, adult epilepsy, and general neurology practices at Montefiore Medical Center during the 30-day period starting April 2, 2020, at the peak of the COVID-19 pandemic in New York. RESULTS: We found that patients who had telephone encounters, as opposed to televideo encounters, were overall older, less likely to have commercial insurance, and more likely to have Medicaid. Among pediatric patients, a preferred language other than English was also associated with a higher proportion of telephone encounters. New patients in both the adult and pediatric groups were more likely to have televideo visits. CONCLUSIONS: Our findings identify demographic factors, including age, insurance type, and language preference, which may play a role in access to televideo encounters among neurology patients in an urban center during the COVID-19 pandemic. We suggest several potential practice, institution, and community-based interventions, which might further expand access to televideo care for neurology patients.
