43 results on '"Joshi, Sucheta"'
Search Results
2. Transition of Care in Epilepsy
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Kanhere, Sujata and Joshi, Sucheta M.
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- 2023
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3. Transition of Care in Adolescents with Epilepsy: Perspective of Pediatric Neurologists in India
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Kanhere, Sujata and Joshi, Sucheta M.
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- 2023
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4. Risk Factors During Pregnancy and Early Childhood in Rural West Bengal, India: A Feasibility Study Implemented via Trained Community Health Workers Using Mobile Data Collection Devices
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Wagner, Abram L., Xia, Lu, Pandey, Priyamvada, Datta, Sandip, Chattopadhyay, Sharmila, Mazumder, Tanusree, Santra, Sujay, Nandi, Uddip, Pal, Joyojeet, Joshi, Sucheta, and Mukherjee, Bhramar
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- 2018
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5. The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium
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Demarest, Scott T., Shellhaas, Renée A., Gaillard, William D., Keator, Cynthia, Nickels, Katherine C., Hussain, Shaun A., Loddenkemper, Tobias, Patel, Anup D., Saneto, Russell P., Wirrell, Elaine, Sánchez Fernández, Iván, Chu, Catherine J., Grinspan, Zachary, Wusthoff, Courtney J., Joshi, Sucheta, Mohamed, Ismail S., Stafstrom, Carl E., Stack, Cynthia V., Yozawitz, Elissa, Bluvstein, Judith S., Singh, Rani K., and Knupp, Kelly G.
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- 2017
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6. Response to treatment in a prospective national infantile spasms cohort
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Knupp, Kelly G., Coryell, Jason, Nickels, Katherine C., Ryan, Nicole, Leister, Erin, Loddenkemper, Tobias, Grinspan, Zachary, Hartman, Adam L., Kossoff, Eric H., Gaillard, William D., Mytinger, John R., Joshi, Sucheta, Shellhaas, Renée A., Sullivan, Joseph, Dlugos, Dennis, Hamikawa, Lorie, Berg, Anne T., Millichap, John, Nordli, Douglas R., Jr, and Wirrell, Elaine
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- 2016
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7. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
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Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, OʼBrien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Shellhaas, Renée A., Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, and Winawer, Melodie R.
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- 2015
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8. A Multicenter Study of Adherence to Best Practices and Application of Epilepsy Quality Metrics in a Pediatric Telemedicine Encounter.
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Joshi, Charuta N., Miller, Joseph S., Silveira, Lori J., Nelson, Julie A., Walleigh, Diana J., Joshi, Sucheta M., and Patel, Anup D.
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EPILEPSY ,BEST practices ,TRAFFIC safety ,CHILD patients ,PEOPLE with epilepsy - Abstract
Objective: To assess Epilepsy Quality Metrics (EQM) and guideline implementation in new pediatric patients seen in telemedicine. Methods: Multicenter, cross sectional, retrospective analysis. Results: Patients were similar across 3 centers for age, gender, and insurance type. Eighty-one percent presented for spells. One hundred sixty patients with epilepsy formed the EQM cohort. Results: Seizures described: 95%; frequency: 67%, last seizure documented: 81%, epilepsy syndrome documented: 67%; epilepsy diagnosis: 77%, medications reviewed: 56%, adverse events discussed: 73%. Quality of life discussed: 3%. Anticipatory guidance was described as follows: seizure safety, 57%; driving, 47%; SUDEP, 11%; vitamin D discussion, 19%; pregnancy and folic acid counseling, 4% and 10%. Epileptologists were 4 times as likely as generalists in discussing driving safety (odds ratio 3.93, 95% confidence interval 1.7-8.9; P=.001) for all ages. Significance: Performance on EQM and guideline implementation in pediatric epilepsy telemedicine encounters can be improved. [ABSTRACT FROM AUTHOR]
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- 2022
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9. Barriers, access and management of paediatric epilepsy with telehealth.
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Gali, Kari, Joshi, Sucheta, Hueneke, Sarah, Katzenbach, Alexis, Radecki, Linda, Calabrese, Trisha, Fletcher, Linda, Trandafir, Cristina, Wilson, Carey, Goyal, Monisha, Wusthoff, Courtney J, Le Pichon, Jean-Baptiste, Corvalan, Rhonda, Golson, April, Hardy, Jessica, Smith, Michael, Cook, Elizabeth, and Bonkowsky, Joshua L
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Access to paediatric neurology care is complex, resulting in significant wait times and negative patient outcomes. The goal of the American Academy of Pediatrics National Coordinating Center for Epilepsy's project, Access Improvement and Management of Epilepsy with Telehealth (AIM-ET), was to identify access and management challenges in the deployment of telehealth technology. AIM-ET organised four paediatric neurology teams to partner with primary-care providers (PCP) and their multidisciplinary teams. Telehealth visits were conducted for paediatric epilepsy patients. A post-visit survey assessed access and satisfaction with the telehealth visit compared to an in-person visit. Pre/post surveys completed by PCPs and neurologists captured telehealth visit feasibility, functionality and provider satisfaction. A provider focus group assessed facilitators and barriers to telehealth. Sixty-one unique patients completed 75 telehealth visits. Paired t-test analysis demonstrated that telehealth enhanced access to epilepsy care. It reduced self-reported out-of-pocket costs (p<0.001), missed school hours (p<0.001) and missed work hours (p<0.001), with 94% equal parent/caregiver satisfaction. Focus groups indicated developing and maintaining partnerships, institutional infrastructure and education as facilitators and barriers to telehealth. Telehealth shortened travelling distance, reduced expenses and time missed from school and work. Further, it provides significant opportunity in an era when coronavirus disease 2019 limits in-person clinics. [ABSTRACT FROM AUTHOR]
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- 2022
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10. Lennox-Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project
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Widdess-Walsh, Peter, Dlugos, Dennis, Fahlstrom, Robyn, Joshi, Sucheta, Shellhaas, Renée, Boro, Alex, Sullivan, Joseph, and Geller, Eric
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- 2013
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11. De novo mutations in epileptic encephalopathies
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Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Han, Yujun, Heinzen, Erin L., Hitomi, Yuki, Howell, Katherine B., Johnson, Michael R., Kuzniecky, Ruben, Lowenstein, Daniel H., Lu, Yi-Fan, Madou, Maura R. Z., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, OʼBrien, Terence J., Ottman, Ruth, Petrovski, Slavé, Poduri, Annapurna, Ruzzo, Elizabeth K., Sherr, Elliott H., Yuskaitis, Christopher J., Abou-Khalil, Bassel, Alldredge, Brian K., Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory D., Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Paolicchi, Juliann M., Parent, Jack M., Park, Kristen, Scheffer, Ingrid E., Shellhaas, Renée A., Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, and Winawer, Melodie R.
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- 2013
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12. Management of Infantile Spasms During the COVID-19 Pandemic.
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Grinspan, Zachary M., Mytinger, John R., Baumer, Fiona M., Ciliberto, Michael A., Cohen, Bruce H., Dlugos, Dennis J., Harini, Chellamani, Hussain, Shaun A., Joshi, Sucheta M., Keator, Cynthia G., Knupp, Kelly G., McGoldrick, Patricia E., Nickels, Katherine C., Park, Jun T., Pasupuleti, Archana, Patel, Anup D., Shahid, Asim M., Shellhaas, Renee A., Shrey, Daniel W., and Singh, Rani K.
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COVID-19 pandemic ,INFANTILE spasms ,MEDICAL care - Abstract
Circumstances of the COVID-19 pandemic have mandated a change to standard management of infantile spasms. On April 6, 2020, the Child Neurology Society issued an online statement of immediate recommendations to streamline diagnosis and treatment of infantile spasms with utilization of telemedicine, outpatient studies, and selection of first-line oral therapies as initial treatment. The rationale for the recommendations and specific guidance including follow-up assessment are provided in this manuscript. These recommendations are indicated as enduring if intended to outlast the pandemic, and limited if intended only for the pandemic health care crisis but may be applicable to future disruptions of health care delivery. [ABSTRACT FROM AUTHOR]
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- 2020
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13. Integrating quality improvement into the ECHO model to improve care for children and youth with epilepsy.
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Joshi, Sucheta, Gali, Kari, Radecki, Linda, Shah, Amy, Hueneke, Sarah, Calabrese, Trisha, Katzenbach, Alexis, Sachdeva, Ramesh, Brown, Lawrence, Kimball, Eve, White, Patience, McManus, Peggy, Wood, David, Nelson, Eve‐Lynn, and Archuleta, Pattie
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MEDICAL personnel , *CHILDHOOD epilepsy , *CHILD care , *CASE-based reasoning , *MATERNAL age , *YOUTH health - Abstract
Objective: Project ECHO (Extension for Community Healthcare Outcomes), a telementoring program, utilizes lectures, case‐based learning, and an "all teach–all learn" approach to increase primary care provider (PCP) knowledge/confidence in managing chronic health conditions. The American Academy of Pediatrics (AAP) Epilepsy and Comorbidities ECHO incorporated quality improvement (QI) methodology to create meaningful practice change, while increasing PCP knowledge/self‐efficacy in epilepsy management using the ECHO model. Methods: Monthly ECHO sessions (May 2018 to December 2018) included lectures, case presentations/discussion, and QI review. Pediatric practices were recruited through the AAP. Practices engaged in ECHO sessions and improvement activities including monthly Plan‐Do‐Study‐Act cycles, team huddles, chart reviews, and QI coaching calls to facilitate practice change. They were provided resource toolkits with documentation templates, safety handouts, and medication side effects sheets. QI measures were selected from the American Academy of Neurology Measurement Set for Epilepsy. The AAP Quality Improvement Data Aggregator was used for data entry, run chart development, and tracking outcomes. Participants completed retrospective surveys to assess changes in knowledge and self‐efficacy. Results: Seven practices participated across five states. Average session attendance was 14 health professionals (range = 13‐17). A total of 479 chart reviews demonstrated improvement in six of seven measures: health care transition (45.3%, P =.005), safety education (41.6%, P =.036), mental/behavioral health screening (32.2% P =.027), tertiary center referral (26.7%, not significant [n.s.]), antiseizure therapy side effects (23%, n.s.), and documenting seizure frequency (7.1%, n.s.); counseling for women of childbearing age decreased by 7.8%. Significance: This project demonstrated that integrating QI into an ECHO model results in practice change and increases PCP knowledge/confidence/self‐efficacy in managing epilepsy. [ABSTRACT FROM AUTHOR]
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- 2020
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14. Validation of EpiTRAQ, a transition readiness assessment tool for adolescents and young adults with epilepsy.
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Clark, Sarah J., Beimer, Nicholas J., Gebremariam, Acham, Fletcher, Linda L., Patel, Anup D., Carbone, Lorrie, Guyot, Jamie A., and Joshi, Sucheta M.
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CHILDREN with epilepsy ,YOUNG adults ,STATISTICAL reliability ,EPILEPSY ,TEENAGERS ,ACADEMIC medical centers ,PREPAREDNESS - Abstract
Objective: To design and validate a transition readiness assessment tool for adolescents and young adults with epilepsy and without intellectual disability. Methods: We adapted a general transition readiness assessment tool (TRAQ) to add epilepsy‐relevant items based on concepts in current epilepsy quality measures. The adapted tool, EpiTRAQ, maintained the original structure and scoring system. Concurrent with clinical implementation in pediatric and adult epilepsy clinics at an academic medical center, we assessed the validity and reliability of this adapted tool for patients 16‐26 years of age. This process included initial validation with 302 patients who completed EpiTRAQ between October 2017 and May 2018; repeat validation with 381 patients who completed EpiTRAQ between June 2018 and September 2019; and retest reliability among 153 patients with more than one completed EpiTRAQ. Results: Mean scores were comparable between initial and repeat validation populations (absolute value differences between 0.05 and 0.1); internal consistency ranged from good to high. For both the initial and repeat validation, mean scores and internal consistency demonstrated high comparability to the original TRAQ validation results. Upon retest, few patients rated themselves with a lower score, while the majority rated themselves with higher scores. Significance: EpiTRAQ is a valid and reliable tool for assessing transition readiness in adolescents and young adults with epilepsy and without intellectual disability. [ABSTRACT FROM AUTHOR]
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- 2020
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15. Erratum : De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))
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Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jähn, Johanna A., Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Kuhlenbäumer, Gregor, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Møller, Rikke S., Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Pendziwiat, Manuela, Robbiano, Angela, Roelens, Filip, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M., Sisodiya, Sanjay M., Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne G., Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amrom, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haas, Kevin, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Sadleir, Lynette G., Scheffer, Ingrid E., Shellhaas, Renée A, Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P. G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Allen, Andrew S., Cossette, Patrick, Delanty, Norman, Eichler, Evan E., Goldstein, David B., Han, Yujun, Heinzen, Erin L., Johnson, Michael R., Marson, Anthony G., Mefford, Heather C., Nieh, Sahar Esmaeeli, O'Brien, Terence J., Petrou, Stephen, Petrovski, Slavé, and Ruzzo, Elizabeth K.
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Genetics ,Genetics(clinical) - Abstract
(The American Journal of Human Genetics 95, 360–370; October 2, 2014) In the list of consortium members for the Epilepsy Phenome/Genome Project, member Dina Amrom's name was misspelled as Amron. The authors regret the error.
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- 2017
16. Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
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Allen, Andrew S, Berkovic, Samuel F, Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P, Glauser, Tracy, Goldstein, David B, Heinzen, Erin L, Jiang, Yu, Johnson, Michael R, Kuzniecky, Ruben, Lowenstein, Daniel H, Marson, Anthony G, Mefford, Heather C, O'Brien, Terence J, Ottman, Ruth, Petrou, Steven, Petrovski, Slave, Poduri, Annapurna, Ren, Zhong, Scheffer, Ingrid E, Sherr, Elliott, Wang, Quanli, Balling, Rudi, Barisic, Nina, Baulac, Stephanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Guerrini, Renzo, Helbig, Ingo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jaehn, Johanna, Klein, Karl Martin, Koeleman, Bobby, Komarek, Vladimir, Krause, Roland, Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes R, Lerche, Holger, Linnankivi, Tarja, Marini, Carla, May, Patrick, Moller, Rikke S, Muhle, Hiltrud, Pal, Deb, Palotie, Aarno, Rosenow, Felix, Selmer, Kaja, Serratosa, Jose M, Sisodiya, Sanjay, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Suls, Arvid, Talvik, Tiina, von Spiczak, Sarah, Weber, Yvonne, Weckhuysen, Sarah, Zara, Federico, Abou-Khalil, Bassel, Alldredge, Brian K, Amrom, Dina, Andermann, Eva, Andermann, Frederick, Bautista, Jocelyn F, Bluvstein, Judith, Cascino, Gregory D, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Fiol, Miguel E, Fountain, Nathan B, French, Jacqueline, Friedman, Daniel, Haas, Kevin, Haut, Sheryl R, Hayward, Jean, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E, Kossoff, Eric H, Kuperman, Rachel, McGuire, Shannon M, Motika, Paul V, Novotny, Edward J, Paolicchi, Juliann M, Parent, Jack, Park, Kristen, Shellhaas, Renee A, Sirven, Joseph, Smith, Michael C, Sullivan, Joseph, Thio, Liu Lin, Venkat, Anu, Vining, Eileen PG, Von Allmen, Gretchen K, Weisenberg, Judith L, Widdess-Walsh, Peter, Winawer, Melodie R, Consortium, Epi4K, Consortium, EuroEPINOMICS-RES, Project, Epilepsy Phenome Genome, Epi4K Consortium, EuroEPINOMICS- RES Consortium, and Epilepsy Phenome Genome Project
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0301 basic medicine ,Linkage disequilibrium ,medicine.medical_specialty ,genetic structures ,Population ,Disequilibrium ,Short Report ,Genome-wide association study ,Biology ,Bioinformatics ,Linkage Disequilibrium ,03 medical and health sciences ,0302 clinical medicine ,Gene Frequency ,Epilepsy Phenome/Genome Project ,medicine ,Genetics ,Journal Article ,Humans ,Genetics(clinical) ,Genetic Predisposition to Disease ,education ,Genetics (clinical) ,education.field_of_study ,Polymorphism, Genetic ,Lennox Gastaut Syndrome ,Infant ,Transmission disequilibrium test ,medicine.disease ,Multicenter Study ,Chemistry ,030104 developmental biology ,Medical genetics ,Human medicine ,medicine.symptom ,Spasms, Infantile ,030217 neurology & neurosurgery ,Lennox–Gastaut syndrome ,Genome-Wide Association Study - Abstract
The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox-Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found to account for over 15% of patients with IS or LGS. The contribution of autosomal recessive genetic variation, however, is less well understood. We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient-parent trios that were generally prescreened for rare metabolic disorders. In the current sample, our rare variant transmission disequilibrium test did not identify individual genes with significantly distorted transmission over expectation after correcting for the multiple tests. While the rare variant transmission disequilibrium test did not find evidence of a role for individual autosomal recessive genes, our current sample is insufficiently powered to assess the overall role of autosomal recessive genotypes in an outbred epileptic encephalopathy population.
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- 2017
17. Thrombocytopenia in pediatric patients on concurrent cannabidiol and valproic acid.
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McNamara, Nancy A., Dang, Louis T., Sturza, Julie, Ziobro, Julie M., Fedak Romanowski, Erin M., Smith, Garnett C., Joshi, Sucheta M., Leber, Steven M., Carlson, Martha, Robertson, Patricia, and Shellhaas, Renée A.
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VALPROIC acid ,CANNABIDIOL ,LENNOX-Gastaut syndrome ,THROMBOCYTOPENIA ,DRUG side effects - Abstract
In January 2019, a new plant‐derived purified cannabidiol preparation, approved by the US Food and Drug Administration, became commercially available for patients ≥2 years old with Lennox‐Gastaut syndrome or Dravet syndrome. Among our patients who were prescribed the new cannabidiol formulation, we observed several cases of thrombocytopenia and therefore embarked on this study. We conducted a single‐center systematic chart review of all pediatric patients (<21 years old) who were prescribed cannabidiol from January to August 2019. We evaluated salient features of the patients' epilepsy syndrome, age, concurrent medications, and surveillance laboratory results before and after cannabidiol initiation. Among 87 patients, nine (10%) developed thrombocytopenia (platelet nadir range = 17 000‐108 000) following initiation of cannabidiol. Each of these nine children was on combination therapy of cannabidiol with valproic acid. Whereas no children on cannabidiol without valproic acid (0/57) developed thrombocytopenia, nine of 23 treated with combination valproic acid and cannabidiol developed platelets < 110 000/µL (P <.0001). We report a novel and clinically important side effect of thrombocytopenia in one‐third of patients treated concurrently with cannabidiol and valproic acid. If this finding is confirmed, clinicians should perform close monitoring for thrombocytopenia when adding cannabidiol to a regimen that includes valproic acid. [ABSTRACT FROM AUTHOR]
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- 2020
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18. Crisis Standard of Care: Management of Infantile Spasms during COVID-19.
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Grinspan, Zachary M., Mytinger, John R., Baumer, Fiona M., Ciliberto, Michael A., Cohen, Bruce H., Dlugos, Dennis J., Harini, Chellamani, Hussain, Shaun A., Joshi, Sucheta M., Keator, Cynthia G., Knupp, Kelly G., McGoldrick, Patricia E., Nickels, Katherine C., Park, Jun T., Pasupuleti, Archana, Patel, Anup D., Pomeroy, Scott L., Shahid, Asim M., Shellhaas, Renee A., and Shrey, Daniel W.
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INFANTILE spasms ,COVID-19 ,MEDICAL personnel ,MEDICAL care - Abstract
Crisis standards of care" are guidelines to help health care providers deliver the best possible medical care when resources are acutely limited, such as by war, natural disaster, or public health catastrophe. Traditionally, care involves an urgent inpatient evaluation to coordinate video-electroencephalogram (EEG) monitoring, imaging, laboratory studies, and initiation of treatment. The exigency of the current public health crisis demands a fast, effective pivot in how we manage our most vulnerable patients, including a shift to an outpatient-based protocol for both diagnosis and treatment. [Extracted from the article]
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- 2020
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19. Using community health workers to refer pregnant women and young children to health care facilities in rural West Bengal, India: A prospective cohort study.
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Wagner, Abram L., Xia, Lu, Ghosh, Aparna, Datta, Sandip, Pandey, Priyamvada, Santra, Sujay, Chattopadhyay, Sharmila, Nandi, Uddip, Mazumder, Tanusree, Joshi, Sucheta, Pal, Joyojeet, and Mukherjee, Bhramar
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MEDICAL personnel ,COMMUNITY health workers ,RURAL health ,RURAL health services - Abstract
Background: Community health workers (CHWs) have been placed in many rural areas in India to increase villagers’ connections to basic preventive health care. In this study, we describe how pregnant women and mothers of young children react when CHWs inform them that they, or their child, are at high risk of pregnancy-related complications or early childhood developmental delays, and further screening and health care from a physician is recommended. Methods: In this longitudinal study in rural villages in West Bengal, India, pregnant mothers, as well as mothers of children aged 12–24 months, were screened for high risk complications. They were re-contacted and asked questions regarding how and to what extent did visits by the CHWs improve their household’s overall health behavior, along with details about what additional care, if any, they sought. These responses are presented by different demographic and medical characteristics. Results: Of the 231 pregnant women, all said they had sought additional care in response to the CHW visit, and all stated that feedback from the CHW resulted in improvement to their health behaviors. Most (90%) pregnant women gave birth at an institution. Among the 213 mothers of young children who were followed up, all sought additional care in response to the CHW’s visit. Most (67%) mentioned that they had a significant improvement in their health behaviors following feedback from the CHW, and the rest stated that they had some improvement. Conclusions: With the proper training, CHWs can be partners in health care to improve the health of vulnerable populations, not only in rural areas of India, but also in other developing countries. CHWs can promote positive health outcomes in their villages of residence. [ABSTRACT FROM AUTHOR]
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- 2018
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20. Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.
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Kutscher, Eric J., Joshi, Sucheta M., Patel, Anup D., Hafeez, Baria, and Grinspan, Zachary M.
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TREATMENT of epilepsy , *GENETIC testing , *PEDIATRIC neurology , *MEDICAID beneficiaries , *QUANTITATIVE research - Abstract
Background: Children with public insurance (Medicaid) have increased barriers to specialty care in the United States. For children with epilepsy, the relationship between public insurance and barriers to genetic testing is understudied.Methods: We surveyed a sample of US child neurology clinicians. We performed quantitative and qualitative analysis of responses.Results: There were 302 responses (of 1982 surveyed; response rate 15%) from clinicians from 46 states, the District of Columbia, and Puerto Rico, including board-certified child neurologists (82%), resident physicians (6%), nurses (3%), and nurse practitioners (3%). Clinicians felt it was more difficult to get genetic testing for patients with Medicaid insurance compared with commercial insurance, (43% vs 12%, P < 0.05), although many felt it was about the same degree of difficulty (25%) or were not sure (20%). Increased availability of testing was associated with less complex testing (P < 0.001), in-house testing (P < 0.001), and no preauthorization requirements (P < 0.001). Qualitative responses described barriers related to cost, clinician familiarity and comfort, commercial laboratories, health care organization, payer, and patient concerns. Descriptions of facilitators included lowered cost, availability of clinical genetics expertise, clinician knowledge, commercial laboratory assistance, health care organizational changes, improved payer coverage, and increased interest by parents.Conclusions: Pediatric Medicaid beneficiaries with epilepsy have barriers to genetic testing, compared with children with commercial insurance, particularly for more advanced testing. Potential strategies to improve access include broader coverage, lower co-pays, increased capacity for testing outside of specialty laboratories, fewer preauthorization requirements, improved clinician education, ongoing development and dissemination of guidelines, improved availability of clinical genetics services, and continued assistance programs from commercial laboratories. [ABSTRACT FROM AUTHOR]- Published
- 2017
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21. Response to second treatment after initial failed treatment in a multicenter prospective infantile spasms cohort.
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Knupp, Kelly G., Leister, Erin, Coryell, Jason, Nickels, Katherine C., Ryan, Nicole, Juarez-Colunga, Elizabeth, Gaillard, William D., Mytinger, John R., Berg, Anne T., Millichap, John, Nordli, Douglas R., Joshi, Sucheta, Shellhaas, Renée A., Loddenkemper, Tobias, Dlugos, Dennis, Wirrell, Elaine, Sullivan, Joseph, Hartman, Adam L., Kossoff, Eric H., and Grinspan, Zachary M.
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INFANTILE spasms ,CHILDREN with epilepsy ,TREATMENT of epilepsy ,HORMONE therapy ,ELECTRONOGRAPHY ,DISEASE remission ,THERAPEUTICS - Abstract
Objective Infantile spasms ( IS) represent a severe epileptic encephalopathy presenting in the first 2 years of life. Recommended first-line therapies (hormonal therapy or vigabatrin) often fail. We evaluated response to second treatment for IS in children in whom the initial therapy failed to produce both clinical remission and electrographic resolution of hypsarhythmia and whether time to treatment was related to outcome. Methods The National Infantile Spasms Consortium established a multicenter, prospective database enrolling infants with new diagnosis of IS. Children were considered nonresponders to first treatment if there was no clinical remission or persistence of hypsarhythmia. Treatment was evaluated as hormonal therapy (adrenocorticotropic hormone [ ACTH] or oral corticosteroids), vigabatrin, or 'other.' Standard treatments (hormonal and vigabatrin) were compared to all other nonstandard treatments. We compared response rates using chi-square tests and multivariable logistic regression models. Results One hundred eighteen infants were included from 19 centers. Overall response rate to a second treatment was 37% (n = 44). Children who received standard medications with differing mechanisms for first and second treatment had higher response rates than other sequences (27/49 [55%] vs. 17/69 [25%], p < 0.001). Children receiving first treatment within 4 weeks of IS onset had a higher response rate to second treatment than those initially treated later (36/82 [44%] vs. 8/34 [24%], p = 0.040). Significance Greater than one third of children with IS will respond to a second medication. Choosing a standard medication ( ACTH, oral corticosteroids, or vigabatrin) that has a different mechanism of action appears to be more effective. Rapid initial treatment increases the likelihood of response to the second treatment. [ABSTRACT FROM AUTHOR]
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- 2016
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22. The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce.
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Kang, Peter B, Bale, James F Jr, Mintz, Mark, Joshi, Sucheta M, Gilbert, Donald L, Radabaugh, Carrie, Ruch-Ross, Holly, and Section on Neurology Executive Committee of the American Academy of Pediatrics, and the Board of Directors of the Child Neurology Society
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- 2016
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23. How Do You Keto? Survey of North American Pediatric Ketogenic Diet Centers.
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Jung, Da Eun, Joshi, Sucheta M., and Berg, Anne T.
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KETOGENIC diet , *INTERNET surveys , *PSYCHOLOGISTS , *CHILDREN'S health , *JUVENILE diseases , *THERAPEUTICS - Abstract
We surveyed ketogenic diet centers in North America about their practices surrounding the ketogenic diet. An internet survey was disseminated via REDCap© to North American ketogenic diet centers identified from the Charlie Foundation and Ketocal© websites. Fifty-six centers responded. In addition to physicians, nurses and dieticians, ketogenic teams included social workers (39%), feeding specialists (14%), educational liaisons (4%), psychologists (5%), and pharmacists (36%). A child attending school (2%), non–English speaking family (19%), single-parent family (0%), and oral feeding (6%) were rarely considered barriers. Overall, the diet was considered the first or second (0%), third or fourth (67%), fifth or sixth (29%), and last resort treatment (4%) by centers. It was considered the first or second treatment for GLUT1 disease (86%) and third or fourth for Dravet (63%), West (71%), and Doose (65%) syndromes. Ketogenic diet is no longer a last resort option. Traditional barriers do not influence its use. [ABSTRACT FROM PUBLISHER]
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- 2015
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24. Lennox- Gastaut syndrome of unknown cause: Phenotypic characteristics of patients in the Epilepsy Phenome/ Genome Project.
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Widdess‐Walsh, Peter, Dlugos, Dennis, Fahlstrom, Robyn, Joshi, Sucheta, Shellhaas, Renée, Boro, Alex, Sullivan, Joseph, and Geller, Eric
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LENNOX-Gastaut syndrome ,PHENOTYPES ,EPILEPSY ,GENOMES ,ETIOLOGY of diseases - Abstract
Purpose Lennox- Gastaut syndrome ( LGS) is a devastating childhood-onset epilepsy syndrome. The cause is unknown in 25% of cases. Little has been described about the specific clinical or electroencephalography ( EEG) features of LGS of unknown or genetic cause ( LGS
u ). The Epilepsy Phenome/ Genome Project ( EPGP) aims to characterize LGSu by phenotypic analysis of patients with LGSu and their parents. Methods One hundred thirty-five patients with LGS with no known etiology and their parents were enrolled from 19 EPGP centers in the United States and Australia. Clinical data from medical records, standardized questionnaires, imaging, and EEG were collected with use of online informatics systems developed for EPGP. Key Findings LGSu in the EPGP cohort had a broad range of onset of epilepsy from 1 to 13 years, was male predominant (p < 0.0002), and was associated with normal development prior to seizure onset in 59.2% of patients. Despite the diagnosis, almost half of the adult patients with LGSu completed secondary school. Parents were cognitively normal. All subjects had EEG recordings with generalized epileptiform abnormalities with a spike wave frequency range of 1-5 Hz (median 2 Hz), whereas 8.1% of subjects had EEG studies with a normal posterior dominant rhythm. Almost 12% of patients evolved from West syndrome. Significance LGSu has distinctive characteristics including a broad age range of onset, male predominance, and often normal development prior to the onset of seizures. Cognitive achievements such as completion of secondary school were possible in half of adult patients. Our phenotypic description of LGSu coupled with future genetic studies will advance our understanding of this epilepsy syndrome. [ABSTRACT FROM AUTHOR]- Published
- 2013
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25. Knowledge of Epilepsy and Preferred Sources of Information Among Elementary School Teachers.
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Mott, Jared, Shellhaas, Renée A., and Joshi, Sucheta M.
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INTERNET surveys ,TREATMENT of epilepsy ,ELEMENTARY school teachers ,SCHOOL nursing ,SCHOOL physicians ,EDUCATION - Abstract
We conducted an online survey of elementary school teachers in Washtenaw County, Michigan, regarding their confidence in their knowledge of epilepsy and their preferred media or sources of information about epilepsy. Eighty-three teachers (9.3%) responded. One quarter expressed a lack of confidence in their ability to teach students with epilepsy or to respond appropriately to a seizure. Teachers most frequently (68%) cited the Internet as their primary source of information about epilepsy, with the school nurse and parents/guardians also frequently mentioned (55% and 48%, respectively). In contrast, most respondents prefer that their information come from the school nurse (74%) or a physician (73%), while only 25% cited the Internet as a preferred source. Teachers most frequently indicated EpilepsyFoundation.org (70.5%) as a trusted source of information. Future collaborative education efforts between school nurses and physicians, especially through use of the Internet, could improve teachers’ knowledge of epilepsy. [ABSTRACT FROM AUTHOR]
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- 2013
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26. Advanced Treatments for Childhood Epilepsy.
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Joshi, Sucheta M., Singh, Rani K., and Shellhaas, Renée A.
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- 2013
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27. The Current Evaluation and Treatment of Infantile Spasms Among Members of the Child Neurology Society.
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Mytinger, John R. and Joshi, Sucheta
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INFANTILE spasms , *PEDIATRIC neurology , *ADRENOCORTICAL hormones , *TUBEROUS sclerosis , *VIGABATRIN , *TOPIRAMATE , *THERAPEUTICS , *DISEASE risk factors - Abstract
The optimal evaluation and treatment of children with infantile spasms is unknown. To aid in the development of a standardized approach to infantile spasms, members of the Child Neurology Society were surveyed to determine common practice. The survey had 222 responders with a responder rate of 18.5%. We found that the diagnostic evaluation and the use of first-line treatments varied among responders. For example, although adrenocorticotropic hormone continues to be the most commonly used first-line treatment for infantile spasms not due to tuberous sclerosis, some clinicians use corticosteroids, vigabatrin, and topiramate as first-line treatments for this group. Seventy percent of our responders reported seeing fewer than 10 new-onset cases of infantile spasms per year. Thus, future clinical trials will require multicenter collaboration. An important first step in such collaboration is to standardize the evaluation and treatment of infantile spasms within and between participating centers. [ABSTRACT FROM PUBLISHER]
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- 2012
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28. Vitamin D and Bone Health Among Children With Epilepsy
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Shellhaas, Renée A. and Joshi, Sucheta M.
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CHILDHOOD epilepsy , *VITAMIN D deficiency , *BONE density , *BONE metabolism , *SCIENTIFIC literature , *ANTICONVULSANTS , *COMORBIDITY , *ALGORITHMS , *THERAPEUTICS - Abstract
The lay media and scientific literature have focused increasing attention on vitamin D deficiency and insufficiency in recent years. Low vitamin D levels confer increased an risk of abnormal bone mineralization, and are linked to poor bone health in epilepsy patients. However, vitamin D is not the only determinant of bone health in children with epilepsy. Anticonvulsant medications, in addition to features and comorbidities of epilepsy and coexisting neurologic diseases, are important factors in this complex topic. We review the basic metabolism of vitamin D in terms of bone health among children with epilepsy. We also discuss the literature regarding vitamin D and bone mineral density in this population. Finally, we suggest algorithms for screening and treating vitamin D insufficiency in these patients. [Copyright &y& Elsevier]
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- 2010
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29. Poster 317: Do OnabotulinumtoxinA Injections Affect Seizure Threshold in Children? A Report on 2 Cases
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Rothman, Kori, Hornyak, Joseph E., Hurvitz, Edward A., and Joshi, Sucheta
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- 2010
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30. Cerebral and Systemic Infarcts After Bronchial Artery Embolization
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Pestana Knight, Elia M., Novelli, Paula M., and Joshi, Sucheta M.
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BRONCHIAL arteries , *THERAPEUTIC embolization , *MICROSPHERES , *HEMORRHAGE , *CYSTIC fibrosis in children , *CEREBRAL hemispheres , *ECHOCARDIOGRAPHY , *SURGICAL anastomosis - Abstract
Abstract: Bronchial artery embolization with microspheres constitutes an effective, safe procedure for controlling hemoptysis. A 17-year-old girl with cystic fibrosis developed hemoptysis and underwent bilateral bronchial artery embolization with 300-500 μm and 500-700 μm microsphere particles. Afterward, she was delirious and complained of headache. On initial examination, she manifested altered mental status and diffuse hyperreflexia. Her left fifth digit was painful and cyanotic. Neuroimaging demonstrated multiple embolic infarcts in the cerebellum, thalamus, and cerebral hemispheres. An echocardiogram produced normal results. An evaluation of her thrombophilia revealed heterozygosity for a prothrombin 20210A mutation. Her functional neurologic recovery was complete. To our knowledge, this is the first pediatric case of cerebral and systemic embolism after bronchial artery embolization. Although this complication is not predictable, it should be suspected in patients with underlying chronic lung disease who develop acute neurologic signs after bronchial artery embolization, because these patients are prone to anomalous arterial-arterial shunt formation. [Copyright &y& Elsevier]
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- 2011
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31. Prevalence and Risk Factors for Vitamin D Insufficiency Among Children With Epilepsy
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Shellhaas, Renée A., Barks, Amanda K., Joshi, Sucheta M., and Shellhaas, Renée A
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VITAMIN D deficiency , *HEALTH risk assessment , *CHILDHOOD epilepsy , *DISEASE prevalence , *PEDIATRIC neurology , *MEDICAL records , *LOGISTIC regression analysis , *BODY mass index , *ANTICONVULSANTS - Abstract
This cross-sectional study was designed to determine the prevalence of, and risk factors for, vitamin D insufficiency among children treated for epilepsy in a general pediatric neurology clinic. Included were 78 children with epilepsy, aged 3-17 years, treated by the authors between September 2008 and March 2009. Vitamin D levels and relevant risk factors were evaluated using multiple logistic regression. Of the 78 children, 41% were male and 81% were of European origin; the mean age was 11.64 ± 4.37 years. 25-hydroxyvitamin D levels of <20 ng/mL were observed in 25% of the children and levels considered to be normal (>32 ng/mL) were observed in only 25%. Girls and children with elevated body mass index were at increased risk for low 25-hydroxyvitamin D. The odds ratio for low 25-hydroxyvitamin D was 4.07 for girls versus boys, with a 95% confidence interval of 1.18-13.97; for each 1-unit increase in body mass index, the odds ratio was 1.179, with a 95% confidence interval of 1.047-1.329. Use of newer antiepileptic drugs was not associated with altered risk, compared with older enzyme-inducing drugs. Vitamin D insufficiency was highly prevalent in this unselected population of children with epilepsy. Female sex and increased body mass index were significant risk factors for low vitamin D levels, but antiepileptic drug regimen was not. [Copyright &y& Elsevier]
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- 2010
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32. Book review: Benign Focal Epilepsies in Infancy, Childhood and Adolescence
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Joshi, Sucheta M.
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- 2008
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33. Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus.
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Shellhaas, Renée A., Berg, Anne T., Grinspan, Zachary M., Wusthoff, Courtney J., Millichap, John J., Loddenkemper, Tobias, Coryell, Jason, Saneto, Russell P., Chu, Catherine J., Joshi, Sucheta M., Sullivan, Joseph E., Knupp, Kelly G., Kossoff, Eric H., Keator, Cynthia, Wirrell, Elaine C., Mytinger, John R., Valencia, Ignacio, Massey, Shavonne, and Gaillard, William D.
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TREATMENT of epilepsy , *PEOPLE with epilepsy , *COHORT analysis , *CHILDHOOD epilepsy , *DIAGNOSIS , *DISEASE risk factors , *ANTICONVULSANTS , *COMBINATION drug therapy , *EPILEPSY , *RESEARCH funding , *TREATMENT effectiveness , *RETROSPECTIVE studies - Abstract
Objective: There are no evidence-based guidelines on the preferred approach to treating early-life epilepsy. We examined initial therapy selection in a contemporary US cohort of children with newly diagnosed, nonsyndromic, early-life epilepsy (onset before age three years).Methods: Seventeen pediatric epilepsy centers participated in a prospective cohort study of children with newly diagnosed epilepsy with onset under 36 months of age. Details regarding demographics, seizure types, and initial medication selections were obtained from medical records.Results: About half of the 495 enrolled children with new-onset, nonsyndromic epilepsy were less than 12 months old at the time of diagnosis (n = 263, 53%) and about half (n = 260, 52%) had epilepsy with focal features. Of 464 who were treated with monotherapy, 95% received one of five drugs: levetiracetam (n = 291, 63%), oxcarbazepine (n = 67, 14%), phenobarbital (n = 57, 12%), topiramate (n = 16, 3.4%), and zonisamide (n = 13, 2.8%). Phenobarbital was prescribed first for 50 of 163 (31%) infants less than six months old versus seven of 300 (2.3%) of children six months or older (P < 0.0001). Although the first treatment varied across study centers (P < 0.0001), levetiracetam was the most commonly prescribed medication regardless of epilepsy presentation (focal, generalized, mixed/uncertain). Between the first and second treatment choices, 367 (74%) of children received levetiracetam within the first year after diagnosis.Conclusions: Without any specific effort, the pediatric epilepsy community has developed an unexpectedly consistent approach to initial treatment selection for early-life epilepsy. This suggests that a standard practice is emerging and could be utilized as a widely acceptable basis of comparison in future drug studies. [ABSTRACT FROM AUTHOR]- Published
- 2017
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34. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study
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Koko, M., Motelow, J. E., Stanley, K. E., Bobbili, D. R., Dhindsa, R. S., May, P., Alldredge, B. K., Allen, A. S., Altmuller, J., Amrom, D., Andermann, E., Auce, P., Avbersek, A., Baulac, S., Bautista, J. F., Becker, F., Bellows, S. T., Berghuis, B., Berkovic, S. F., Bluvstein, J., Boro, A., Bridgers, J., Burgess, R., Caglayan, H., Cascino, G. D., Cavalleri, G. L., Chung, S. -K., Cieuta-Walti, C., Cloutier, V., Consalvo, D., Cossette, P., Crumrine, P., Delanty, N., Depondt, C., Desbiens, R., Devinsky, O., Dlugos, D., Epstein, M. P., Everett, K., Fiol, M., Fountain, N. B., Francis, B., French, J., Freyer, C., Friedman, D., Gambardella, A., Geller, E. B., Girard, S., Glauser, T., Glynn, S., Goldstein, D. B., Gravel, M., Haas, K., Haut, S. R., Heinzen, E. L., Helbig, I., Hildebrand, M. S., Johnson, M. R., Jorgensen, A., Joshi, S., Kanner, A., Kirsch, H. E., Klein, K. M., Knowlton, R. C., Koeleman, B. P. C., Kossoff, E. H., Krause, R., Krenn, M., Kunz, W. S., Kuzniecky, R., Langley, S. R., Leguern, E., Lehesjoki, A. -E., Lerche, H., Leu, C., Lortie, A., Lowenstein, D. H., Marson, A. G., Mebane, C., Mefford, H. C., Meloche, C., Moreau, C., Motika, P. V., Muhle, H., Moller, R. S., Nabbout, R., Nguyen, D. K., Nikanorova, M., Novotny, E. J., Nurnberg, P., Ottman, R., O'Brien, T. J., Paolicchi, J. M., Parent, J. M., Park, K., Peter, S., Petrou, S., Petrovski, S., Pickrell, W. O., Poduri, A., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Sadleir, L. G., Sander, J. W., Sander, T., Scheffer, I. E., Schubert, J., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Sills, G. J., Singh, R. K., Siren, A., Sirven, J., Sisodiya, S. M., Smith, M. C., Sonsma, A. C. M., Striano, P., Sullivan, J., Thio, L. L., Thomas, R. H., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Wang, Q., Weber, Y. G., Weckhuysen, S., Weisenberg, J. L., Widdess-Walsh, P., Winawer, M. R., Wolking, S., Zara, F., Zimprich, F., Canadian Epilepsy Network, Epi4K Consortium, Epilepsy Phenome/Genome Project, EpiPGX Consortium, EuroEPINOMICS-CoGIE Consortium, Department of Medical and Clinical Genetics, Medicum, Fonds National de la Recherche - FnR [sponsor], Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Peter, Sarah, Petrou, Steven, Petrovski, Slavé, Pickrell, William O., Poduri, Annapurna, Radtke, Rodney A., Rees, Mark I., Regan, Brigid M., Ren, Zhong, Sadleir, Lynette G., Alldredge, Brian K., Sander, Josemir W., Sander, Thomas, Scheffer, Ingrid E., Schubert, Julian, Shellhaas, Renée A., Sherr, Elliott H., Shih, Jerry J., Shinnar, Shlomo, Sills, Graeme J., Singh, Rani K., Allen, Andrew S., Siren, Auli, Sirven, Joseph, Sisodiya, Sanjay M., Smith, Michael C., Sonsma, Anja C. M., Striano, Pasquale, Sullivan, Joseph, Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Altmüller, Janine, Vining, Eileen P. G., Von Allmen, Gretchen K., Wang, Quanli, Weber, Yvonne G., Weckhuysen, Sarah, Weisenberg, Judith L., Widdess-Walsh, Peter, Winawer, Melodie R., Wolking, Stefan, Zara, Federico, Amrom, Dina, Zimprich, Fritz, Andermann, Eva, Auce, Pauls, Avbersek, Andreja, Baulac, Stéphanie, Bautista, Jocelyn F., Becker, Felicitas, Bellows, Susannah T., Berghuis, Bianca, Berkovic, Samuel F., Bluvstein, Judith, Boro, Alex, Bridgers, Joshua, Burgess, Rosemary, Caglayan, Hande, Cascino, Gregory D., Cavalleri, Gianpiero L., Chung, Seo-Kyung, Cieuta-Walti, Cécile, Cloutier, Véronique, Consalvo, Damian, Cossette, Patrick, Crumrine, Patricia, Delanty, Norman, Depondt, Chantal, Desbiens, Richard, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Everett, Kate, Fiol, Miguel, Fountain, Nathan B., Francis, Ben, French, Jacqueline, Freyer, Catharine, Friedman, Daniel, Gambardella, Antonio, Geller, Eric B., Girard, Simon, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl R., Heinzen, Erin L., Helbig, Ingo, Hildebrand, Michael S., Johnson, Michael R., Jorgensen, Andrea, Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Klein, Karl M., Knowlton, Robert C., Koeleman, Bobby P. C., Kossoff, Eric H., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Langley, Sarah R., LeGuern, Eric, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lortie, Anne, Lowenstein, Daniel H., Marson, Anthony G., Mebane, Caroline, Mefford, Heather C., Meloche, Caroline, Moreau, Claudia, Motika, Paul V., Muhle, Hiltrud, Møller, Rikke S., Nabbout, Rima, Nguyen, Dang K., Nikanorova, Marina, Novotny, Edward J., Nürnberg, Peter, Ottman, Ruth, O'Brien, Terence J., Paolicchi, Juliann M., Parent, Jack M., and Park, Kristen
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GABA receptors ,Neurology [D14] [Human health sciences] ,Clinical Sciences ,GABA(A) receptors ,GABRG2 ,familial epilepsy ,Article ,Clinical Research ,Receptors ,Exome Sequencing ,Genetics ,2.1 Biological and endogenous factors ,Humans ,GGE ,Genetic Predisposition to Disease ,sporadic epilepsy ,EpiPGX Consortium ,Aetiology ,gamma-Aminobutyric Acid ,GABAA receptors ,Epi4K Consortium ,Epilepsy ,Neurology & Neurosurgery ,Neurologie [D14] [Sciences de la santé humaine] ,Generalized ,GABA-A ,Prevention ,Human Genome ,Neurosciences ,1184 Genetics, developmental biology, physiology ,3112 Neurosciences ,Receptors, GABA-A ,EuroEPINOMICS-CoGIE Consortium ,Neurology ,Case-Control Studies ,Epilepsy, Generalized ,Canadian Epilepsy Network ,Neurology (clinical) ,Genetics & genetic processes [F10] [Life sciences] ,3111 Biomedicine ,Human medicine ,Génétique & processus génétiques [F10] [Sciences du vivant] ,Epilepsy Phenome/Genome Project - Abstract
ObjectiveWe aimed to identify genes associated with genetic generalized epilepsy (GGE) by combining large cohorts enriched with individuals with a positive family history. Secondarily, we set out to compare the association of genes independently with familial and sporadic GGE.MethodsWe performed a case-control whole exome sequencing study in unrelated individuals of European descent diagnosed with GGE (previously recruited and sequenced through multiple international collaborations) and ancestry-matched controls. The association of ultra-rare variants (URVs; in 18834 protein-coding genes) with epilepsy was examined in 1928 individuals with GGE (vs. 8578 controls), then separately in 945 individuals with familial GGE (vs. 8626 controls), and finally in 1005 individuals with sporadic GGE (vs. 8621 controls). We additionally examined the association of URVs with familial and sporadic GGE in two gene sets important for inhibitory signaling (19genes encoding γ-aminobutyric acid type A [GABAA ] receptors, 113genes representing the GABAergic pathway).ResultsGABRG2 was associated with GGE (p=1.8×10-5 ), approaching study-wide significance in familial GGE (p=3.0×10-6 ), whereas no gene approached a significant association with sporadic GGE. Deleterious URVs in the most intolerant subgenic regions in genes encoding GABAA receptors were associated with familial GGE (odds ratio [OR]=3.9, 95% confidence interval [CI]=1.9-7.8, false discovery rate [FDR]-adjusted p=.0024), whereas their association with sporadic GGE had marginally lower odds (OR=3.1, 95% CI=1.3-6.7, FDR-adjusted p=.022). URVs in GABAergic pathway genes were associated with familial GGE (OR=1.8, 95% CI=1.3-2.5, FDR-adjusted p=.0024) but not with sporadic GGE (OR=1.3, 95% CI=.9-1.9, FDR-adjusted p=.19).SignificanceURVs in GABRG2 are likely an important risk factor for familial GGE. The association of gene sets of GABAergic signaling with familial GGE is more prominent than with sporadic GGE.
- Published
- 2022
35. Child Neurology Recruitment and Training: Views of Residents and Child Neurologists From the 2015 AAP/CNS Workforce Survey.
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Gilbert, Donald L., Horn, Paul S., Kang, Peter B., Mintz, Mark, Joshi, Sucheta M., Ruch-Ross, Holly, Jr.Bale, James F., and Bale, James F Jr
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PEDIATRIC neurology , *NEUROLOGISTS , *NEUROLOGICAL disorders , *THERAPEUTICS , *CHILD patients , *MULTIVARIATE analysis , *TRAINING , *CURRICULUM , *EMPLOYEE selection , *INTERNET , *INTERNSHIP programs , *MEDICAL societies , *LOGISTIC regression analysis , *CERTIFICATION - Abstract
Background: To assess and compare resident and practicing child neurologists' attitudes regarding recruitment and residency training in child neurology.Methods: A joint task force of the American Academy of Pediatrics and the Child Neurology Society conducted an electronic survey of child neurology residents (n = 305), practicing child neurologists (n = 1290), and neurodevelopmental disabilities specialists (n = 30) in 2015. Descriptive and multivariate analyses were performed.Results: Response rates were 32% for residents (n = 97; 36% male; 65% Caucasian) and 40% for practitioners (n = 523; 63% male; 80% Caucasian; 30% lifetime certification). Regarding recruitment, 70% (n = 372) attributed difficulties recruiting medical students to insufficient early exposure. Although 68% (n = 364) reported that their medical school required a neurology clerkship, just 28% (n = 152) reported a child neurology component. Regarding residency curriculum, respondents supported increased training emphasis for genetics, neurodevelopmental disabilities, and multiple other subspecialty areas. Major changes in board certification requirements were supported, with 73% (n = 363) favoring reduced adult neurology training (strongest predictors: fewer years since medical school P = 0.003; and among practicing child neurologists, working more half-day clinics per week P = 0.005). Furthermore, 58% (n = 289) favored an option to reduce total training to 4 years, with 1 year of general pediatrics. Eighty-two percent (n = 448) would definitely or probably choose child neurology again.Conclusions: These findings provide support for recruitment efforts emphasizing early exposure of medical students to child neurology. Increased subspecialty exposure and an option for major changes in board certification requirements are favored by a significant number of respondents. [ABSTRACT FROM AUTHOR]- Published
- 2017
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36. Treatment adherence among adolescents with epilepsy: What really matters?
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Carbone, Loretta, Zebrack, Bradley, Plegue, Melissa, Joshi, Sucheta, and Shellhaas, Renée
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EPILEPSY , *PATIENT compliance , *EMPIRICAL research , *LOCUS (Genetics) , *TREATMENT of epilepsy , *DISEASES in teenagers - Abstract
Abstract: Treatment adherence is often suboptimal among adolescents with epilepsy. However, knowledge is lacking regarding factors that affect adherence. Empirical studies and theories of human development suggest that self-management skills, self-efficacy, and sense of control are related to adherence. Eighty-eight adolescents with epilepsy, and their parents, completed standardized measures assessing epilepsy knowledge and expectations, treatment self-management, sense of control, and self-efficacy. Better self-reported parent adherence was correlated with greater epilepsy knowledge/expectations (p<0.001) and more medications (p=0.042). Better self-reported adolescent adherence was correlated with fewer siblings (p=0.003) and higher adolescent epilepsy knowledge/expectations (p<0.001). Greater adolescent epilepsy knowledge/expectations correlated with parent self-reported adherence (p<0.001), Powerful others locus of control (p=0.008), and adolescent/parent discordance regarding epilepsy knowledge/expectations (p<0.001). Interventions that enhance adolescent''s knowledge of epilepsy and their treatment plan, while ensuring that teens and parents are in agreement with regard to epilepsy treatment, might contribute to better adherence. [Copyright &y& Elsevier]
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- 2013
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37. Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
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Majczenko, Karen, Davidson, Ann E., Camelo-Piragua, Sandra, Agrawal, Pankaj B., Manfready, Richard A., Li, Xingli, Joshi, Sucheta, Xu, Jishu, Peng, Weiping, Beggs, Alan H., Li, Jun Z., Burmeister, Margit, and Dowling, James J.
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GENETIC mutation , *CELL nuclei , *MUSCLE diseases , *CLINICAL trials , *MUSCLE hypotonia , *BIOPSY , *NUCLEOTIDE sequence , *SKELETAL muscle , *MUSCLE cells - Abstract
Congenital myopathies are clinically and genetically heterogeneous diseases that typically present in childhood with hypotonia and weakness and are most commonly defined by changes observed in muscle biopsy. Approximately 40% of congenital myopathies are currently genetically unresolved. We identified a family with dominantly inherited congenital myopathy characterized by distal weakness and biopsy changes that included core-like areas and increased internalized nuclei. To identify the causative genetic abnormality in this family, we performed linkage analysis followed by whole-exome capture and next-generation sequencing. A splice-acceptor variant in previously uncharacterized CCDC78 was detected in affected individuals and absent in unaffected family members and > 10,000 controls. This variant alters RNA-transcript processing and results in a 222 bp in-frame insertion. CCDC78 is expressed in skeletal muscle, enriched in the perinuclear region and the triad, and found in intracellular aggregates in patient muscle. Modeling of the CCDC78 mutation in zebrafish resulted in changes mirroring the human disease that included altered motor function and abnormal muscle ultrastructure. Using a combination of linkage analysis, next-generation sequencing, and modeling in the zebrafish, we have identified a CCDC78 mutation associated with a unique myopathy with prominent internal nuclei and atypical cores. [Copyright &y& Elsevier]
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- 2012
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38. Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.
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Dang, Louis T., Quinonez, Shane C., Becka, Bridget R., Isom, Lori L., and Joshi, Sucheta M.
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SEIZURES (Medicine) , *EPILEPSY , *HEALTH services administration , *LENNOX-Gastaut syndrome , *PHENYTOIN , *TEMPORAL lobe epilepsy - Abstract
Keywords: Genetic epilepsy; SCN1B; Sodium channel; Generalized epilepsy with febrile seizures plus EN Genetic epilepsy SCN1B Sodium channel Generalized epilepsy with febrile seizures plus 121 122 2 06/19/20 20200701 NES 200701 Patient Description This child experienced a febrile seizure at age 26 months. His cvEEG at 31 months demonstrated myoclonic seizures occurring two to three times per hour, atonic seizures occurring twice a day, and bilateral tonic seizures occurring once a day. Discussion SCN1B was the first gene identified for genetic epilepsy with febrile seizures plus,[1] which spans a range of phenotypes including epilepsy with myoclonic-atonic seizures. [Extracted from the article]
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- 2020
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39. Minipterional craniotomy for resection of epileptogenic cavernous malformation.
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Chartrain A, Bullis C, Sader N, Chiarelli PA, Kahan M, Jordan B, Agurs L, Van Hirtum-Das M, Yuliati A, Joshi S, and Chu J
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Epilepsy is a common symptom of pediatric cavernous malformations. In medically refractory patients, surgery can achieve high seizure freedom rates with low morbidity. This video depicts the use of a minipterional craniotomy and transsulcal resection of a frontal opercular cavernous malformation in a 13-year-old female with medically intractable epilepsy. At 1-year follow-up, she was evaluated as Engel class I with a significant improvement in her quality of life. Principles of cavernous malformation resection for the treatment of epilepsy are also reviewed. The video can be found here: https://stream.cadmore.media/r10.3171/2024.4.FOCVID2441., Competing Interests: Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this publication.The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this publication., (© 2024, The Authors.)
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- 2024
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40. Analysis of Gender Discrepancies in Leadership Roles and Recognition Awards in the Child Neurology Society.
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Martindale JM, Christy AL, Gombolay GY, Aravamuthan BR, Jansen L, Joshi S, Strober JB, Terrell M, Tilton AH, Pearl PL, Silver JK, Mink JW, and Khakoo Y
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- Humans, Female, Male, Retrospective Studies, Sexism, Pediatrics, Leadership, Awards and Prizes, Neurology, Societies, Medical, Physicians, Women statistics & numerical data
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Background and Objectives: Gender disparities have been demonstrated across several medical specialties, including neurology. Although women have comprised most of the child neurology trainees since 2007, it is not apparent whether this demographic shift is reflected in the Child Neurology Society (CNS) awards and leadership. This study aimed to evaluate the differences in gender representation among leadership positions and award recipients within the CNS. The primary outcome measure was the total number of board of director (BOD) positions or awards given by gender each year., Methods: A retrospective review of publicly available data was conducted on CNS members, post-training award recipients, and BOD positions, including nomination records, from 1972 to 2023. Data abstracted were restricted to gender to preserve member and nominee anonymity. Gender identification and consensus were determined through a combination of strategies and study members. Data analysis included descriptive statistics, Pearson χ
2 test, and the exact binomial test to compare gender proportions and the probability of being underrepresented in awards, leadership, and nominations over time. Data are presented according to the Strengthening the Reporting of Observational Studies in Epidemiology guidelines., Results: From 1972 to 2023, women represented 29% (44/152) of the BOD positions and 26% (61/236) of post-training award recipients presented by the CNS. Despite the increase in the proportion of women in child neurology, the overall gap in gender representation in leadership positions remains broadly stable. Only 13% (4/32) of CNS presidents have been women, a significant underrepresentation (95% CI 2.3%-52%, p < 0.004), although the representation of women in nonpresidential positions increased from 2003 to 2023. Women are also underrepresented as overall awardees (95% CI 12%-38%, p < 0.00001) except for the Philip R. Dodge Young Investigator Award, which is an investigator-initiated application., Discussion: Women remain underrepresented at the highest levels of recognition in child neurology despite representing most of the field. Reasons for disparities are known to be multifactorial and likely include gender bias and structural sexism. We present several discussion topics that seek to rationalize this disparity and provide suggestions for improving diversity, equity, and inclusion for leadership roles and awards.- Published
- 2024
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41. Cognitive outcomes in febrile infection-related epilepsy syndrome treated with the ketogenic diet.
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Singh RK, Joshi SM, Potter DM, Leber SM, Carlson MD, and Shellhaas RA
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- Child, Female, Humans, Male, Seizures, Febrile diagnosis, Seizures, Febrile etiology, Streptococcal Infections complications, Streptococcal Infections diagnosis, Syndrome, Treatment Outcome, Cognition physiology, Diet, Ketogenic methods, Seizures, Febrile diet therapy, Streptococcal Infections diet therapy
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Febrile infection-related epilepsy syndrome (FIRES) is a newly recognized epileptic encephalopathy in which previously healthy school-aged children present with prolonged treatment-resistant status epilepticus (SE). Survivors are typically left with pharmacoresistant epilepsy and severe cognitive impairment. Various treatment regimens have been reported, all with limited success. The ketogenic diet (KD) is an alternative treatment of epilepsy and may be an appropriate choice for children with refractory SE. We report 2 previously healthy children who presented with FIRES and were placed on the KD during the acute phase of their illness. Both children experienced resolution of SE and were maintained on the KD, along with other anticonvulsant medications, for several months. Both were able to return to school, with some academic accommodations. These cases highlight the potential value of the KD as a preferred treatment in FIRES, not only in the acute setting but also for long-term management. Early KD treatment might optimize both seizure control and cognitive outcome after FIRES., (Copyright © 2014 by the American Academy of Pediatrics.)
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- 2014
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42. Subdural hemorrhages associated with antithrombotic therapy in infants with cerebral atrophy.
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Dang LT, Shavit JA, Singh RK, Joshi SM, Leber SM, Barks JD, and Shellhaas RA
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- Atrophy, Female, Humans, Infant, Infant, Newborn, Male, Cerebral Cortex drug effects, Cerebral Cortex pathology, Fibrinolytic Agents adverse effects, Hematoma, Subdural chemically induced, Hematoma, Subdural diagnosis
- Abstract
Low-molecular-weight heparins, such as enoxaparin, are often used to treat thrombosis in infants. We present 4 infants with diffuse brain injury who developed cerebral venous sinus thrombosis or deep vein thrombosis and were treated with enoxaparin. These infants subsequently developed subdural hemorrhages, and enoxaparin was stopped. In 3 cases, the subdural hemorrhages were found on routine surveillance brain MRI, and in 1 case imaging was urgently obtained because of focal seizures. Two patients needed urgent neurosurgical intervention, and all subdural hemorrhages improved or resolved on follow-up imaging. Each infant developed severe neurologic deficits, probably from the coexisting diffuse brain injury rather than from the subdural hemorrhages themselves. The risk of intracranial hemorrhage from enoxaparin may be accentuated in patients with diffuse brain injury, and careful consideration should be given before treatment in this population., (Copyright © 2014 by the American Academy of Pediatrics.)
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- 2014
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43. The epilepsy phenome/genome project.
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Abou-Khalil B, Alldredge B, Bautista J, Berkovic S, Bluvstein J, Boro A, Cascino G, Consalvo D, Cristofaro S, Crumrine P, Devinsky O, Dlugos D, Epstein M, Fahlstrom R, Fiol M, Fountain N, Fox K, French J, Freyer Karn C, Friedman D, Geller E, Glauser T, Glynn S, Haas K, Haut S, Hayward J, Helmers S, Joshi S, Kanner A, Kirsch H, Knowlton R, Kossoff E, Kuperman R, Kuzniecky R, Lowenstein D, McGuire S, Motika P, Nesbitt G, Novotny E, Ottman R, Paolicchi J, Parent J, Park K, Poduri A, Risch N, Sadleir L, Scheffer I, Shellhaas R, Sherr E, Shih JJ, Shinnar S, Singh R, Sirven J, Smith M, Sullivan J, Thio LL, Venkat A, Vining E, von Allmen G, Weisenberg J, Widdess-Walsh P, and Winawer M
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- Genetic Research, Humans, Information Management, Oligonucleotide Array Sequence Analysis, Research Design, Retrospective Studies, Epilepsy genetics, Genotype, Phenotype
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Background: Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy., Results: EPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants., Conclusions: EPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.
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- 2013
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