Search Results - "Pediatric neurology"

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations by Northrup, Hope, Aronow, Mary E., Bebin, E. Martina, Bissler, John, Darling, Thomas N., de Vries, Petrus J., Frost, Michael D., Gosnell, Elizabeth S., Gupta, Nishant, Jansen, Anna C., Jóźwiak, Sergiusz, Kingswood, J. Chris, Knilans, Timothy K., McCormack, Francis X., Pounders, Ashley, Roberds, Steven L., Rodriguez-Buritica, David F., Roth, Jonathan, Sampson, Julian R., Sparagana, Steven, Thiele, Elizabeth Anne, Weiner, Howard L., Wheless, James W., Towbin, Alexander J., Krueger, Darcy A., Annear, Nicholas M.P., Aronow, Mary E., Bebin, E. Martina, Bissler, John J., Budde, Klemens, Byars, Anna, Chugani, Harry, Cowen, Edward W., Crino, Peter B., Curatolo, Paolo, Darling, Thomas N., de Vries, Petrus, Dilling, Daniel F., Dunn, David W., Ekong, Rosmary, Ess, Kevin C., Franz, David N., Frost, Michael, Gosnell, Elizabeth, Guay-Woodford, Lisa, Gupta, Nishant, Haddad, Luciana, Halbert, Anne, Hebert, Adelaide A., Henske, Elizabeth P., Hook, Dena, Hulbert, John, Jansen, Anna, Johnson, Simon R., Jóźwiak, Sergiusz, King, Bryan, Knilans, Timothy K., Koenig, Mary Kay, Korf, Bruce, Krueger, Darcy A., McCormack, Francis X., Moss, Joel, Mowat, David, Mowrey, Kate, Nabbout, Rima, Nellist, Mark D., Northrup, Hope, O'Callaghan, Finbar, Patel, Uday, Pounders, Ashley, Roach, E. Steve, Roberds, Steven L., Rodriguez-Buritica, David, Romp, Robb, Roth, Jonathan, Rozenberg, Micaela, Ruoss, Stephen J., Sahin, Mustafa, Sampson, Julian, Samuels, Joshua A., Sauter, Matthias, Smith, Catherine A., Soltani, Keyomaurs, Sparagana, Steven, Srivastava, Shoba, Stuart, Clare, Teng, Joyce M.C., Thiele, Elizabeth A., Towbin, Alexander J., Trout, Andrew, van Eeghen, Agnies, Vanclooster, Stephanie, Wang, Henry Z., Wataya-Kaneda, Mari, Weiner, Howard L., Wheless, James W., Witman, Patricia, Wright, Tim, Wu, Joyce Y., Young, Lisa

“…Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013,…”
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Dysmaturation of Premature Brain: Importance, Cellular Mechanisms, and Potential Interventions by Volpe, Joseph J.

“…Prematurity, especially preterm birth (less than 32 weeks' gestation), is common and associated with high rates of both survival and neurodevelopmental…”
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Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference by Northrup, Hope, MD, Krueger, Darcy A., MD PhD

“…Abstract Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the…”
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review by Olson, Heather E., Demarest, Scott T., Pestana-Knight, Elia M., Swanson, Lindsay C., Iqbal, Sumaiya, Lal, Dennis, Leonard, Helen, Cross, J. Helen, Devinsky, Orrin, Benke, Tim A.

“…Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This unique…”
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Encephalitis Associated with COVID-19 Infection in an 11-Year-Old Child by McAbee, Gary N., Brosgol, Yuri, Pavlakis, Steven, Agha, Rabia, Gaffoor, Mohamed

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Epidemiology and Outcomes of Arterial Ischemic Stroke in Children: The Canadian Pediatric Ischemic Stroke Registry by deVeber, Gabrielle A., MD, Kirton, Adam, MD, Booth, Frances A., MD, Yager, Jerome Y., MD, Wirrell, Elaine C., MD, Wood, Ellen, MD, Shevell, Michael, MD, Surmava, Ann-Marie, MBA, McCusker, Patricia, MD, Massicotte, M. Patricia, MD, MacGregor, Daune, MD, MacDonald, E. Athen, MD, Meaney, Brandon, MD, Levin, Simon, MD, Lemieux, Bernard G., MD, Jardine, Lawrence, MD, Humphreys, Peter, MD, David, Michèle, MD, Chan, Anthony K.C., MBBS, Buckley, David J., MD, Bjornson, Bruce H., MD

“…Abstract Background Pediatric arterial ischemic stroke remains incompletely understood. Population-based epidemiological data inform clinical trial design but…”
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Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference by Krueger, Darcy A., MD PhD, Northrup, Hope, MD

“…Abstract Background Tuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected…”
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Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations from A North American Consensus Panel by Wirrell, Elaine C., MD, Laux, Linda, MD, Donner, Elizabeth, MD, Jette, Nathalie, MD, Knupp, Kelly, MD, Meskis, Mary Anne, Miller, Ian, MD, Sullivan, Joseph, MD, Welborn, Michelle, Pharm D, Berg, Anne T., PhD

“…Objectives To establish standards for early, cost-effective and accurate diagnosis, optimal therapies for seizures, and recommendations for evaluation and…”
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Impact of Age and Motor Function in a Phase 1/2A Study of Infants With SMA Type 1 Receiving Single-Dose Gene Replacement Therapy by Lowes, Linda P., Alfano, Lindsay N., Arnold, W. David, Shell, Richard, Prior, Thomas W., McColly, Markus, Lehman, Kelly J., Church, Kathleen, Sproule, Douglas M., Nagendran, Sukumar, Menier, Melissa, Feltner, Douglas E., Wells, Courtney, Kissel, John T., Al-Zaidy, Samiah, Mendell, Jerry

“…This study characterizes motor function responses after early dosing of AVXS-101 (onasemnogene abeparvovec) in gene replacement therapy in infants with severe…”
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From Clinical Trials to Clinical Practice: Practical Considerations for Gene Replacement Therapy in SMA Type 1 by Al-Zaidy, Samiah A., Mendell, Jerry R.

“…Spinal muscular atrophy is a devastating neurodegenerative autosomal recessive disease that results from survival of motor neuron 1 (SMN1) gene mutation or…”
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Prevalence and Risk Factors of Neurologic Manifestations in Hospitalized Children Diagnosed with Acute SARS-CoV-2 or MIS-C by Fink, Ericka L., Robertson, Courtney L., Wainwright, Mark S., Roa, Juan D., Lovett, Marlina E., Stulce, Casey, Yacoub, Mais, Potera, Renee M., Zivick, Elizabeth, Holloway, Adrian, Nagpal, Ashish, Wellnitz, Kari, Czech, Theresa, Even, Katelyn M., Brunow de Carvalho, Werther, Rodriguez, Isadora Souza, Schwartz, Stephanie P., Walker, Tracie C., Campos-Miño, Santiago, Dervan, Leslie A., Geneslaw, Andrew S., Sewell, Taylor B., Pryce, Patrice, Silver, Wendy G., Lin, Jieru Egeria, Vargas, Wendy S., Topjian, Alexis, Alcamo, Alicia M., McGuire, Jennifer L., Domínguez Rojas, Jesus Angel, Muñoz, Jaime Tasayco, Hong, Sue J., Muller, William J., Doerfler, Matthew, Williams, Cydni N., Drury, Kurt, Bhagat, Dhristie, Nelson, Aaron, Price, Dana, Dapul, Heda, Santos, Laura, Kahoud, Robert, Francoeur, Conall, Appavu, Brian, Guilliams, Kristin P., Agner, Shannon C., Walson, Karen H., Rasmussen, Lindsey, Janas, Anna, Ferrazzano, Peter, Farias-Moeller, Raquel, Snooks, Kellie C., Chang, Chung-Chou H., Yun, James, Schober, Michelle E.

“…Our objective was to characterize the frequency, early impact, and risk factors for neurological manifestations in hospitalized children with acute severe…”
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Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease by Yeo, Crystal Jing Jing, Darras, Basil T.

“…Spinal muscular atrophy is typically characterized as a motor neuron disease. Untreated patients with the most severe form, spinal muscular atrophy type 1, die…”
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N-Methyl-d-Aspartate Receptor Encephalitis Associated With COVID-19 Infection in a Toddler by Burr, Tyler, Barton, Christopher, Doll, Elizabeth, Lakhotia, Arpita, Sweeney, Michael

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Neurodevelopmental Outcome After Extreme Prematurity: A Review of the Literature by Jarjour, Imad T., MD

“…Abstract Background Advances in obstetric and neonatal medical care and assisted reproductive technology have increased the rates of preterm birth, decreased…”
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Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist by de Vries, Petrus J., MBChB, MRCPsych, PhD, Whittemore, Vicky H., PhD, Leclezio, Loren, MSc(Neurosci), Byars, Anna W., PhD, Dunn, David, MD, Ess, Kevin C., MD, PhD, Hook, Dena, King, Bryan H., MD, MBA, Sahin, Mustafa, MD, PhD, Jansen, Anna, MD

“…Abstract Background Tuberous sclerosis complex is a multisystem genetic disorder with a range of physical manifestations that require evaluation, surveillance,…”
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Transverse Myelitis in a Child With COVID-19 by Kaur, Harsheen, Mason, John Alan, Bajracharya, Manish, McGee, John, Gunderson, Matthew D., Hart, Blaine L., Dehority, Walter, Link, Nathaniel, Moore, Brian, Phillips, John P., Rogers, Danny

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Infantile Spasms: Outcome in Clinical Studies by Riikonen, Raili

“…Children with infantile spasms are likely to have a poor outcome. Outcome measures for infantile spasms include primary response to treatment, relapse of…”
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Prevalence of Tic Disorders: A Systematic Review and Meta-Analysis by Knight, Tristan, Steeves, Thomas, MD, Day, Lundy, BSc, Lowerison, Mark, MSc, Jette, Nathalie, MD, Pringsheim, Tamara, MD

“…Abstract This study evaluated the prevalence of tic disorders. MEDLINE and EMBASE databases were searched, using terms specific to Tourette syndrome and tic…”
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Lead Toxicity in Children: An Unremitting Public Health Problem by Naranjo, Valeria I., Hendricks, Michael, Jones, Kimberly S.

“…Lead is a pervasive environmental contaminant. Lead accumulates in the body, impairing a molecular level various cellular processes. Lead exposure during…”
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Acute Disseminated Encephalomyelitis in Children: An Updated Review Based on Current Diagnostic Criteria by Cole, Jordan, Evans, Emily, Mwangi, Martin, Mar, Soe

“…Acute disseminated encephalomyelitis is an inflammatory disorder of the central nervous system. Uniform diagnostic criteria for acute disseminated…”
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