Browsing by Author "Venegas, Viviana"
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Item Epilepsy for primary health care: a cost-effective Latin American E-learning initiative(2018) Carrizosa, Jaime; Braga, Patricia; Albuquerque, Marly; Bogacz, Alicia; Burneo, Jorge; Coan, Ana C.; Contreras, Guilca; Guilhoto, Laura; Izquierdo, Álvaro; Ladino, Lady; Lin, Katia; Manreza, Maria L.; Morales, Lilia; Ríos, Loreto; Solarte, Rodrigo; Valente, Kette; Venegas, Viviana; Uscátegui-Daccarett, Angélica; Yacubian, Elza M.A lack of neurologists in Latin America forces primary health care providers to manage epilepsy. With the main goal of improving diagnostic and therapeutic management of patients with epilepsy through training of physicians in the primary health care level, the International League Against Epilepsy Education Commission (2013-2017) created a low-cost, regional, virtual course. The course, set-up in Moodle platform, was structured in eight modules, each lasting for a week. Teaching was based on written didactic material, videos, and interactive discussions, both in Spanish and Portuguese. Topics included epidemiology, diagnosis, classification, treatment, prognosis, social issues, and epilepsy policies. Each course was limited to 50 participants and priority was given to general practitioners. Certification was given to those approving the final examination. Since 2015, five courses have been developed, involving 143 participants from 17 countries and 21 tutors. Of the participants, 61% worked in primary health care services. A total of 129 participants (90%) completed the course, and 110 submitted the final examination with an approval rate of 95%. From 85 participants completing the course evaluation, 98% would recommend the course to other colleagues, and 99% showed interest in taking other similar courses. High self-confidence for the management of patients with epilepsy increased from 21% at baseline to 73% after the course. The online course on epilepsy for primary care physicians in Latin America was shown to be a cost-effective course, with good retention and excellent approval rates. Our current challenges include periodic updating, complete self-sustainability, and exploring different strategies to reach our target audience more effectively.Publication Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice(2022) McKnight, Dianalee; Morales, Ana; Hatchell, Kathryn E.; Bristow, Sara L.; Bonkowsky, Joshua L.; Scott Perry, Michael; Berg, Anne T.; Borlot, Felippe; Esplin, Edward D.; Moretz, Chad; Angione, Katie; Ríos-Pohl, Loreto; Nussbaum, Robert L.; Aradhya, Swaroop; ELEVIATE Consortium; Haldeman-Englert, Chad R.; Levy, Rebecca J.; Parachuri, Venu G.; Lay-Son, Guillermo; Dávila-Ortiz de Montellano, David J.; Ramírez-García, Miguel Angel; Benítez Alonso, Edmar O.; Ziobro,Julie; Chirita-Emandi, Adela; Felix, Temis M.; Kulasa-Luke, Dianne; Megarbane, Andre; Karkare, Shefali; Chagnon, Sarah L.; Humberson, Jennifer B.; Assaf, Melissa J.; Silva, Sebastián; Zarroli, Katherine; Boyarchuk, Oksana; Nelson, Gary R.; Palmquist, Rachel; Katherine C Hammond; Hwang, Sean T.; Boutlier, Susan B.; Nolan Melinda; Batley, Kaitlin Y.; Chavda, Devraj; Reyes-Silva, Carlos Alberto; Miroshnikov, Oleksandr; Zuccarelli, Britton; Amlie-Wolf, Louis; Wheless, James W.; Seinfeld, Syndi; Venegas, VivianaImportance: It 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. Objective: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes. Design, setting, and participants: This 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. Exposures: Genetic test results. Main outcomes and measures: Clinical 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. Results: Among 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 relevance: Results 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.Publication How the characteristics of pediatric neurologists in Latin America influence the communication of sudden unexpected death in epilepsy to patients and caregivers(2022) Venegas, Viviana; Manterola, Carla; De Pablo, José; Garcia, Mariano; Ponce de León, Sonia; Cavada, GabrielObjective: This study aimed to describe the characteristics of pediatric neurologists (PNs) in Latin America (LA) who attend to children and adolescents with epilepsy and convey to them the risk of sudden unexpected death in epilepsy (SUDEP). Methods: Personal data and details of discussion of SUDEP with families, including relevance of SUDEP disclosure, frequency of such communication, perceived benefits and risks of disclosure, extent of training received on such disclosure, and professional experience with SUDEP, were collected through an online survey of PNs from LA. Their personal experience in carrying out this conversation was obtained through responses to an open question, further used to identify the main barriers. Results: Of the 442 surveys received, 367 (83%) were analyzed. Most participants (73.8%) responded that the communication of SUDEP risk was relevant or very relevant; however, only 17.9% reported communicating it always or very frequently. Factors that increased the frequency of SUDEP communication included patients with higher levels of complexity (OR = 2.18, P = .003) and the physician's personal experience with SUDEP (OR = 2.305, P < .001). Direct questions from the family and avoiding scaring them about a rare outcome were the main motivations behind discussing and not discussing SUDEP, respectively. In the open question, respondents identified worries about the patient's ability to understand the information and cultural gaps as barriers. "Informing with the intention of improving adherence to treatment" and "establishing an empathic relationship" were significantly related. Further, the concept of "do not scare" was significantly related to "personal difficulties in discussing SUDEP." Significance: Although most PNs agree that communication about SUDEP is relevant, only a minority actually engages in it. Participants identified a lack of appropriate training in such communication as a barrier. A better understanding of communication expectations, education of health professionals, and communication techniques have a strong relevance in diminishing the gap between guidelines and practice.Item Variante patogénica en el gen PCDH19 en una paciente con epilepsia y discapacidad cognitiva(2020) Venegas, Viviana; García, Elisa; Repetto, Gabriela; Barroso, Eva; Lapunzina, PabloIntroducción: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. Objetivo: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su manejo. Caso Clínico: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, “de novo”. La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren atención de salud mental. Conclusiones: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.Item Vigabatrin-induced MRI changes associated with extrapyramidal symptoms in a child with infantile spasms(Sage Publications, 2015) Schonstedt, Valeria; Stecher, Ximena; Venegas, Viviana; Silva, ClaudioVigabatrin is an antiepileptic drug used for treatment of infantile spasms. We present a female patient with infantile spasms in treatment with vigabatrin who developed ataxic movements. MRI demonstrated a symmetrical pattern of thalamic and globi pallidi diffusion restriction. While these image features have been widely described to be related to the use of vigabatrin, this case highlights the development of movement disorders in association with MRI signal changes. Awareness of the reversible nature of this condition is reassuring for the treating team and avoids unjustified studies.