Medical teleconsultation in the care of children with suspected rare diseases: a pilot study in Brazil during the COVID-19 pandemic

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Lívia Maria Ferreira Sobrinho
Marcos José Burle de Aguiar
Alexandra Maria Monteiro Grisolia

Abstract

OBJECTIVE: To evaluate teleinterconsultation in medical genetics for cases of children with suspected rare diseases. METHODS: Prospective study of qualitative and quantitative evaluation of the use and satisfaction with asynchronous teleinterconsultation for physicians from public hospitals in a city in the northern macro-region of the state of Minas Gerais. RESULTS: A total of 21 teleinterconsultations were performed from September 29, 2020, to January 07, 2021. Approximately 52.3% of them were able to establish the probable diagnosis in the first evaluation, and the others were within the protocols of rare diseases investigation. Of the 12 requesting physicians, 91.6% were female, 58.2% were pediatric residents, and 41.8% were pediatricians. About 58% of the requesting physicians had never used telemedicine before. There was 100% satisfaction with the teleinterconsultation with the specialist geneticist. CONCLUSION: Teleinterconsultation in medical genetics for children with rare diseases met expectations, modified the conduct of non-specialist physicians in a city lacking a geneticist, and guided diagnosis and conduct in all cases.

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