Desenvolvimento, escolarização e síndrome de Down: expectativas maternas

O presente estudo teve por objetivo investigar as expectativas maternas em relação ao desenvolvimento e escolarização do filho com síndrome de Down, a partir de uma perspectiva psicanalítica. Foi realizado um estudo qualitativo, por meio de entrevistas, que foram gravadas, transcritas e posteriormente analisadas, a partir de análise qualitativa de conteúdo. Participaram do estudo 12 mães de pessoas com síndrome de Down, com idades entre dois meses e 23 anos. Os resultados revelaram que o diagnóstico de síndrome de Down gera impacto nas mães. Em decorrência disso, as mães apresentaram dificuldade de construir expectativas em relação ao desenvolvimento e escolarização. Ressalta-se a importância do apoio e acompanhamento da mãe, no que se refere ao exercício da maternidade, bem como de professores que acompanharão o aluno com síndrome de Down a partir da idade escolar

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey

Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients' homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating subtle neurological signs such as mild weakness or sensory deficits. The COVID-19 pandemic has disrupted healthcare delivery worldwide, necessitating rapid measures implementation by health care providers (HCPs) to protect patients from acquiring SARS-CoV-2 while maintaining the best care and treatment. Objectives: Given the challenges faced by remote healthcare assistance of NMD patients, we aim to evaluate the use of TM in NMD during the COVID-19 pandemic. Methods: Based on the Model for Assessment-of-Telemedicine-Applications (MAST), we conducted a survey amongst clinicians of the ERN EURO NMD (European-Reference-Network-for-Rare-Neuromuscular-Diseases). Results: Based on 42 responses over 76 expected ones, our results show that the COVID-19 pandemic significantly increased the number of HCPs using TM (from 60% to 100%). The TM types most used during the COVID-19 period are teleconsultation and consultation by phone, particularly in the context of symptoms worsening in NMD patients with COVID-19 infection. Most European HCPs were satisfied when using TM but as a complementary option to physical consultations. Many responses addressed the issue of technical aspects needing improvement, particularly for elderly patients who need caregivers' assistance for accessing the TM platform. Conclusions: TM has been essential during COVID-19, but its use still presents some limitations for NMD patients with cognitive deficits or for first-time diagnosis. Thus, TM should be used as complement to, rather than substitute, for face-to-face consultations