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2. Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany

Author

Willems, Laurent M., Schubert-Bast, Susanne, Grau, Janina, Hertzberg, Christoph, Kurlemann, Gerhard, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Zöllner, Johann Philipp, Rosenow, Felix, and Strzelczyk, Adam

Published
2021
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3. Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives

Author

Willems, Laurent M., Rosenow, Felix, Schubert-Bast, Susanne, Kurlemann, Gerhard, Zöllner, Johann Philipp, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Ebrahimi-Fakhari, Daniel, Grau, Janina, Hahn, Andreas, Hartmann, Hans, Hertzberg, Christoph, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, von Podewils, Felix, Ruf, Susanne, Sauter, Matthias, Schäfer, Hannah, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wiemer-Kruel, Adelheid, Wilken, Bernd, Zukunft, Bianca, and Strzelczyk, Adam

Published
2021
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8. Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

Author

Grau, Janina, Zöllner, Johann Philipp, Schubert-Bast, Susanne, Kurlemann, Gerhard, Hertzberg, Christoph, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Willems, Laurent M., Rosenow, Felix, and Strzelczyk, Adam

Published
2021
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9. Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

Author

Strzelczyk, Adam, Kalski, Malin, Bast, Thomas, Wiemer-Kruel, Adelheid, Bettendorf, Ulrich, Kay, Lara, Kieslich, Matthias, Kluger, Gerhard, Kurlemann, Gerhard, Mayer, Thomas, Neubauer, Bernd A., Polster, Tilman, Herting, Arne, von Spiczak, Sarah, Trollmann, Regina, Wolff, Markus, Irwin, John, Carroll, Joe, Macdonald, Daniel, Pritchard, Clive, Klein, Karl Martin, Rosenow, Felix, and Schubert-Bast, Susanne

Published
2019
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10. Klinische Charakteristika, Ressourcenverbrauch, Lebensqualität und Versorgungssituation beim Dravet-Syndrom in Deutschland

Author

Kalski, Malin, Schubert-Bast, Susanne, Kieslich, Matthias, Leyer, Anne‑Christine, Polster, Tilman, Herting, Arne, Mayer, Thomas, Trollmann, Regina, Neubauer, Bernd A., Bettendorf, Ulrich, Bast, Thomas, Wiemer-Kruel, Adelheid, von Spiczak, Sarah, Kurlemann, Gerhard, Wolff, Markus, Kluger, Gerhard, Carroll, Joe, Macdonald, Daniel, Pritchard, Clive, Irwin, John, Klein, Karl Martin, Rosenow, Felix, Strzelczyk, Adam, and Kay, Lara

Published
2019
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11. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants inSTXBP1

Author

Thalwitzer, Kim M., primary, Driedger, Jan H., additional, Xian, Julie, additional, Saffari, Afshin, additional, Zacher, Pia, additional, Bölsterli, Bigna K., additional, Ruggiero, Sarah McKeown, additional, Sullivan, Katie Rose, additional, Datta, Alexandre N., additional, Kellinghaus, Christoph, additional, Althaus, Jürgen, additional, Wiemer-Kruel, Adelheid, additional, van Baalen, Andreas, additional, Pampel, Armin, additional, Alber, Michael, additional, Braakman, Hilde M.H., additional, Debus, Otfried M., additional, Denecke, Jonas, additional, Hobbiebrunken, Elke, additional, Breitweg, Ina, additional, Diehl, Danielle, additional, Eitel, Hans, additional, Gburek-Augustat, Janina, additional, Preisel, Martin, additional, Schlump, Jan-Ulrich, additional, Laufs, Mirjam, additional, Mammadova, Dilbar, additional, Wurst, Carsten, additional, Prager, Christine, additional, Löhr-Nilles, Christa, additional, Martin, Peter, additional, Garbade, Sven F., additional, Platzer, Konrad, additional, Benkel-Herrenbrueck, Ira, additional, Egler, Kerstin, additional, Fazeli, Walid, additional, Lemke, Johannes R., additional, Runkel, Eva, additional, Klein, Barbara, additional, Linden, Tobias, additional, Schröter, Julian, additional, Steffeck, Heike, additional, Thies, Bastian, additional, von Deimling, Florian, additional, Illsinger, Sabine, additional, Borggraefe, Ingo, additional, Classen, Georg, additional, Wieczorek, Dagmar, additional, Ramantani, Georgia, additional, Koelker, Stefan, additional, Hoffmann, Georg F., additional, Ries, Markus, additional, Helbig, Ingo, additional, and Syrbe, Steffen, additional

Published
2023
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13. Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study

Author

Saffari, Afshin, Brösse, Ines, Wiemer-Kruel, Adelheid, Wilken, Bernd, Kreuzaler, Paula, Hahn, Andreas, Bernhard, Matthias K., van Tilburg, Cornelis M., Hoffmann, Georg F., Gorenflo, Matthias, Hethey, Sven, Kaiser, Olaf, Kölker, Stefan, Wagner, Robert, Witt, Olaf, Merkenschlager, Andreas, Möckel, Andreas, Roser, Timo, Schlump, Jan-Ulrich, Serfling, Antje, Spiegler, Juliane, Milde, Till, Ziegler, Andreas, and Syrbe, Steffen

Published
2019
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14. Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Author

Thalwitzer, Kim M, Driedger, Jan H, Xian, Julie, Saffari, Afshin, Zacher, Pia, Bölsterli, Bigna K, McKeown Ruggiero, Sarah, Sullivan, Katie Rose, Datta, Alexandre N, Kellinghaus, Christoph, Althaus, Jurgen, Wiemer-Kruel, Adelheid, van Baalen, Andreas, Pampel, Armin, Alber, Michael, Braakman, Hilde M H, Debus, Otfried M, Denecke, Jonas, Hobbiebrunken, Elke, Breitweg, Ina, Diehl, Danielle, Eitel, Hans, Gburek-Augustat, Janina, Preisel, Martin, Schlump, Jan-Ulrich, Laufs, Mirjam, Mammadova, Dilbar, Wurst, Carsten, Prager, Christine, Löhr-Nilles, Christa, Martin, Peter, Garbade, Sven F, Platzer, Konrad, Benkel-Herrenbrueck, Ira, Egler, Kerstin, Fazeli, Walid, Lemke, Johannes R, Runkel, Eva, Klein, Barbara, Linden, Tobias, Schröter, Julian, Steffeck, Heike, Thies, Bastian, von Deimling, Florian, Illsinger, Sabine, Borggraefe, Ingo, Classen, Georg, Wieczorek, Dagmar, Ramantani, Georgia, Koelker, Stefan, Hoffmann, Georg F, Ries, Markus, Helbig, Ingo, and Syrbe, Steffen

Abstract

BACKGROUND AND OBJECTIVES: Pathogenic variants in STXBP1 are among the major genetic causes of neurodevelopmental disorders. Despite the increasing number of individuals diagnosed without a history of epilepsy, little is known about the natural history and developmental trajectories in this subgroup and endpoints for future therapeutic studies are limited to seizure control.; METHODS: We performed a cross-sectional retrospective study using standardized questionnaires for clinicians and caregivers of individuals with STXBP1-related disorders capturing medical histories, genetic findings, and developmental outcomes. Motor and language function were assessed using Gross Motor Function Classification System scores (GMFCS) and a speech impairment score and were compared within and across clinically defined subgroups.; RESULTS: We collected data of 71 individuals with STXBP1-related disorders, including 44 previously unreported individuals. Median age at inclusion was 5.3 years (IQR = 3.5-9.3) with the oldest individual aged 43.8 years. Epilepsy was absent in 18/71 (25%) of individuals. The range of developmental outcomes was broad, including two individuals presenting with close to age-appropriate motor development. 29/61 (48%) individuals were able to walk unassisted and 24/69 (35%) were able to speak single words. Individuals without epilepsy presented with a similar onset and spectrum of phenotypic features but had lower GMFCS scores (median 3 vs. 4, p < 0.01) than individuals with epilepsy. Individuals with epileptic spasms were less likely to walk unassisted than individuals with other seizure types (6% vs. 58%, p < 0.01). Individuals with early epilepsy onset had higher speech impairment scores (p = 0.02) than individuals with later epilepsy onset.; DISCUSSION: We expand the spectrum of STXBP1-related disorders and provide clinical features and developmental trajectories in individuals with and without a history of epilepsy. Individuals with epilepsy, in particular epileptic spasms, and neonatal or early-onset, presented with less favorable motor and language functional outcomes compared to individuals without epilepsy. These findings identify children at risk for severe disease and can serve as comparator for future interventional studies in STXBP1-related disorders. © 2023 American Academy of Neurology.

Published
2023

19. Additional file 1 of Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study

Author

Grau, Janina, Zöllner, Johann Philipp, Schubert-Bast, Susanne, Kurlemann, Gerhard, Hertzberg, Christoph, Wiemer-Kruel, Adelheid, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Fiedler, Barbara, Hahn, Andreas, Hartmann, Hans, Hornemann, Frauke, Immisch, Ilka, Jacobs, Julia, Kieslich, Matthias, Klein, Karl Martin, Klotz, Kerstin A., Kluger, Gerhard, Knuf, Markus, Mayer, Thomas, Marquard, Klaus, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Noda, Anna H., Ruf, Susanne, Sauter, Matthias, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wilken, Bernd, Willems, Laurent M., Rosenow, Felix, and Strzelczyk, Adam

Abstract

Additional file 1. Supplementary Table 1. Direct costs related to TSC manifestations.

Published
2021
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20. Efficacy, retention and tolerability of everolimus in patients with tuberous sclerosis complex: a survey-based study on patients’ perspectives

Author

Willems, Laurent Maximilian, Rosenow, Felix, Schubert-Bast, Susanne, Kurlemann, Gerhard, Zöllner, Johann Philipp, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Ebrahimi-Fakhari, Daniel, Grau, Janina, Hahn, Andreas, Hartmann, Hans, Hertzberg, Christoph, Hornemann, Frauke, Immisch, Ilka, Jacobs-LeVan, Julia, Klein, Karl Martin, Klotz, Kerstin Alexandra, Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Podewils, Felix von, Ruf, Susanne, Sauter, Matthias, Schäfer, Hannah, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wiemer-Kruel, Adelheid, Wilken, Bernd, Zukunft, Bianca, Strzelczyk, Adam, Willems, Laurent Maximilian, Rosenow, Felix, Schubert-Bast, Susanne, Kurlemann, Gerhard, Zöllner, Johann Philipp, Bast, Thomas, Bertsche, Astrid, Bettendorf, Ulrich, Ebrahimi-Fakhari, Daniel, Grau, Janina, Hahn, Andreas, Hartmann, Hans, Hertzberg, Christoph, Hornemann, Frauke, Immisch, Ilka, Jacobs-LeVan, Julia, Klein, Karl Martin, Klotz, Kerstin Alexandra, Kluger, Gerhard, Knake, Susanne, Knuf, Markus, Marquard, Klaus, Mayer, Thomas, Meyer, Sascha, Muhle, Hiltrud, Müller-Schlüter, Karen, Podewils, Felix von, Ruf, Susanne, Sauter, Matthias, Schäfer, Hannah, Schlump, Jan-Ulrich, Syrbe, Steffen, Thiels, Charlotte, Trollmann, Regina, Wiemer-Kruel, Adelheid, Wilken, Bernd, Zukunft, Bianca, and Strzelczyk, Adam

Abstract

Background: The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013), subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients with tuberous sclerosis complex (TSC) represents the first disease-modifying treatment option available for this rare and complex genetic disorder. Objective: The objective of this study was to analyse the use, efficacy, tolerability and treatment retention of EVE in patients with TSC in Germany from the patient’s perspective. Methods: A structured cross-age survey was conducted at 26 specialised TSC centres in Germany and by the German TSC patient advocacy group between February and July 2019, enrolling children, adolescents and adult patients with TSC. Results: Of 365 participants, 36.7% (n = 134) reported the current or past intake of EVE, including 31.5% (n = 115) who were taking EVE at study entry. The mean EVE dosage was 6.1 ± 2.9 mg/m2 (median: 5.6 mg/m2, range 2.0–15.1 mg/m2) in children and adolescents and 4 ± 2.1 mg/m2 (median: 3.7 mg/m2, range 0.8–10.1 mg/m2) in adult patients. An early diagnosis of TSC, the presence of angiomyolipoma, drug-refractory epilepsy, neuropsychiatric manifestations, subependymal giant cell astrocytoma, cardiac rhabdomyoma and overall multi-organ involvement were associated with the use of EVE as a disease-modifying treatment. The reported efficacy was 64.0% for angiomyolipoma (75% in adult patients), 66.2% for drug-refractory epilepsy, and 54.4% for subependymal giant cell astrocytoma. The overall retention rate for EVE was 85.8%. The retention rates after 12 months of EVE therapy were higher among adults (93.7%) than among children and adolescents (88.7%; 90.5% vs 77.4% after 24 months; 87.3% vs 77.4% after 36 months). Tolerability was acceptable, with 70.9% of patients overall reporting adverse events, including stomatitis (47.0%), acne-like rash (7.7%), increased susceptibility to common infections and lymphoedema (each 6.0%), which were the most f

Published
2021

22. Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature

Author

Strzelczyk, Adam, primary, Grau, Janina, additional, Bast, Thomas, additional, Bertsche, Astrid, additional, Bettendorf, Ulrich, additional, Hahn, Andreas, additional, Hartmann, Hans, additional, Hertzberg, Christoph, additional, Hornemann, Frauke, additional, Immisch, Ilka, additional, Jacobs, Julia, additional, Klotz, Kerstin A., additional, Kluger, Gerhard, additional, Knake, Susanne, additional, Knuf, Markus, additional, Kurlemann, Gerhard, additional, Marquard, Klaus, additional, Mayer, Thomas, additional, Meyer, Sascha, additional, Muhle, Hiltrud, additional, Müller-Schlüter, Karen, additional, von Podewils, Felix, additional, Rosenow, Felix, additional, Ruf, Susanne, additional, Sauter, Matthias, additional, Schäfer, Hannah, additional, Schlump, Jan-Ulrich, additional, Schubert-Bast, Susanne, additional, Syrbe, Steffen, additional, Thiels, Charlotte, additional, Trollmann, Regina, additional, Wiemer-Kruel, Adelheid, additional, Wilken, Bernd, additional, Zukunft, Bianca, additional, and Zöllner, Johann Philipp, additional

Published
2021
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26. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

Author

Marques, Ruben, Belousoye, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augeres, Guillaume Beaure, de Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Jansen, Anna C., Shinohara, Nobuo, LIorie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, Yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, Yulia Vladimirovna, Karas, Antonina, Jiang, Yuwu, Zou, Liping, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Zhang, Yuqin, Wang, Yi, Jin, Meiling, Ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, Yan, Bo, Deng, Yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Australia Kate, Yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. M., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, De Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, Van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne De Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, da Silva Oliveira Monteiro, Jose Paulo, de Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Laberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahi, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Consortium, TOSCA, Investigators, TOSCA, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, [Marques R] Novartis Farma SpA, Origgio, Italy. Institute of Biomedicine (IBIOMED), University of Leon, León, Spain. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Servei de Pediatria General i Especialitats, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Novartis Pharma AG, Universidad de León [León], Pirogov Russian National Reasearch Medical University Moscow, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), TSA Tuberous Sclerosis Association, Nottingham, United Kingdom, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Department of Public Health and Cell Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy, Karolinska Institutet [Stockholm], Association Sclérose Tubéreuse de Bourneville (Gradignan), University of Cape Town, Centro Hospitalar de Lisboa Central E.P.E, Medizinische Universität Wien = Medical University of Vienna, Universitätsklinik für Kinder-und Jugendheilkunde, Vivantes Klinikum Neukölln [Berlin, Germany] (VKN), Medical University of Warsaw - Poland, Sydney Children's hospital, Fundació Institut de Recerca de l'Hospital Universitari Vall d'Hebron, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institute of Child Health [London], University College of London [London] (UCL), People's Hospital of Peking University (PEKING - PHPU), Peking University [Beijing], Tallinn Children's Hospital [Tallinn, Estonia], Klinikverbund Kempten-Oberallgäu gGmbH, University of Shizuoka, Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, St. Sophia Children’s Hospital, Athens, Department of Clinical Genetics, St George’s University Hospitals, and Vrije Universiteit Brussel (VUB)

Subjects
calidad, acceso y evaluación de la atención sanitaria::calidad de la atención sanitaria::mecanismos de evaluación de la atención sanitaria::recopilación de datos::registros [ATENCIÓN DE SALUD], Pediatrics, [SDV]Life Sciences [q-bio], Disease, registry, GUIDELINES, RECOMMENDATIONS, lcsh:RC346-429, Tuberous sclerosis, Epilepsy, 0302 clinical medicine, Health care, Medicine and Health Sciences, 030212 general & internal medicine, TOSCA, TSC, management, rare diseases, resource use, Serveis sanitaris - Administració, Original Research, Esclerosi tuberosa, Settore MED/39, 3. Good health, medicine.anatomical_structure, Neurology, HEALTH-CARE UTILIZATION, BURDEN, Life Sciences & Biomedicine, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, Hereditary::Tuberous Sclerosis [DISEASES], enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios::esclerosis tuberosa [ENFERMEDADES], congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Clinical Neurology, DIAGNOSIS, Bases de dades - Disseny, calidad, acceso y evaluación de la atención sanitaria::prestación sanitaria::recursos en salud [ATENCIÓN DE SALUD], 03 medical and health sciences, MANAGEMENT, medicine, Health Care Quality, Access, and Evaluation::Delivery of Health Care::Health Resources [HEALTH CARE], lcsh:Neurology. Diseases of the nervous system, Science & Technology, Subependymal giant cell astrocytoma, business.industry, Neurosciences, medicine.disease, LYMPHANGIOLEIOMYOMATOSIS, Lymphangioleiomyomatosis, Neurosciences & Neurology, GIANT-CELL ASTROCYTOMA, Neurology (clinical), TSC1, business, 030217 neurology & neurosurgery, Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Data Collection::Records::Registries [HEALTH CARE], Rare disease
Abstract

TSC; Resource use; TOSCA TSC; Uso de recursos; TOSCA TSC; Ús de recursos; TOSCA Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment paterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite corrent recommendations proposing both treatment options.mTOR inhibitors are also becoming common treatments in rAML and LAMpatients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by

Published
2019

27. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study

Author

Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothée, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Silva Oliveira Monteiro, Jose Paulo, Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Dahlin, Maria, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain, Departament de Salut, Moscow Regional Research Clinical Institute (MONICA), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Association Sclérose Tubéreuse de Bourneville (Gradignan), Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), University Medical Center [Utrecht], Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], The International TOSCA Study, De Waele, L, and Neurogenetics

Subjects
0301 basic medicine, Pediatrics, Neurology, [SDV]Life Sciences [q-bio], Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Tuberous Sclerosis [DISEASES], tuberous sclerosis complex, 030105 genetics & heredity, registry, SEGA, lcsh:RC346-429, RECOMMENDATIONS, Tuberous sclerosis, 0302 clinical medicine, Medicine and Health Sciences, Original Research, Esclerosi tuberosa, TUMORS, 3. Good health, mTOR, medicine.symptom, Life Sciences & Biomedicine, Astrocitomes, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Persons::Age Groups::Adult [NAMED GROUPS], Clinical Neurology, Newly diagnosed, Asymptomatic, 03 medical and health sciences, medicine, MANAGEMENT, Adults, In patient, lcsh:Neurology. Diseases of the nervous system, TOSCA, personas::Grupos de Edad::adulto [DENOMINACIONES DE GRUPOS], Science & Technology, Subependymal giant cell astrocytoma, business.industry, Neurosciences, enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::esclerosis tuberosa [ENFERMEDADES], neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::astrocitoma [ENFERMEDADES], medicine.disease, Clinical neurology, nervous system diseases, Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Astrocytoma [DISEASES], REGISTRY, Neurosciences & Neurology, Neurology (clinical), TSC2, business, 030217 neurology & neurosurgery
Abstract

SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complex d’esclerosi tuberosa SEGA; TOSCA; Complejo de esclerosis tuberosa The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. The study was funded by Novartis Pharma AG.

Published
2019

28. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Karas, Antonina, Jiang, yuwu, Zou, Liping, Xu, Kaifeng, Zhang, yushi, Luan, Guoming, Zhang, yuqin, Wang, yi, Jin, Meiling, ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, yan, Bo, Deng, yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Kate, yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatz, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de St, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Bermejo, Antonio Martinez, Dura, Patricia Smeyers, Aparicio, Susana Roldan, Gonzalez, Maria Jesus Martinez, Pison, Javier Lopez, Barca, Manuel Oscar Blanco, Laso, Eduardo Lopez, Luengo, Olga Alonso, Rodriguez, Francisco Javier Aguirre, Dieguez, Ignacio Malaga, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Petri, Maria Eugenia yoldi, Candela, Ramon Cancho, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Monteiro, Jose Paulo da Silva Oliveira, Leao, Miguel Jorge Santos de Oliveira Ferreira, Luis, Catarina Sofia Marceano Ribeiro, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberland, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, yukitoshi, Touraine, Renaud, youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Shinohara, Nobuo, Horie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, yulia Vladimirovna, Johns Hopkins University (JHU), Fudan University [Shanghai], EED, University of California [Los Angeles] (UCLA), University of California-University of California, Chimie pour la Reconnaissance et l’Etude d’Assemblages Biologiques (CREAB), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), College of Computing (GATECH), Georgia Institute of Technology [Atlanta], Institute for Human Genetics, Safra Children's Hospital, Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Pédiatrie [CHU Toulouse], CHU Toulouse [Toulouse], Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University [Austria] (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Moscow Regional Research Clinical Institute (MONICA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Department of Clinical Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, University of California (UC)-University of California (UC), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain., and Vall d'Hebron Barcelona Hospital Campus

Subjects
Quinases, Pediatrics, enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-serina-treonina cinasas::TOR serina-treonina cinasas [COMPUESTOS QUÍMICOS Y DROGAS], Angiomyolipoma, Neurology, [SDV]Life Sciences [q-bio], CHILDREN, tuberous sclerosis complex, registry, Neoplasms::Neoplasms by Histologic Type::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Neoplasms, Neuroepithelial::Glioma::Neoplasms::Neoplasms by Histologic Type::Astrocytoma [DISEASES], SEGA, RECOMMENDATIONS, DISEASE, lcsh:RC346-429, Tuberous sclerosis, DOUBLE-BLIND, 0302 clinical medicine, EVEROLIMUS, neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES], Medicine and Health Sciences, 030212 general & internal medicine, Original Research, Intracranial pressure, Esclerosi tuberosa, 3. Good health, medicine.anatomical_structure, mTOR, Astrocitomes, Life Sciences & Biomedicine, medicine.drug, medicine.medical_specialty, Clinical Neurology, DIAGNOSIS, 03 medical and health sciences, medicine, MANAGEMENT, TOSCA, lcsh:Neurology. Diseases of the nervous system, Everolimus, Science & Technology, Subependymal giant cell astrocytoma, business.industry, ANGIOMYOLIPOMA, neoplasias::neoplasias por tipo histológico::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::neoplasias neuroepiteliales::glioma::neoplasias::neoplasias por tipo histológico::astrocitoma [ENFERMEDADES], Neurosciences, medicine.disease, SEVERITY, Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [CHEMICALS AND DRUGS], Neurology (clinical), TSC1, Neurosciences & Neurology, TSC2, business, 030217 neurology & neurosurgery, Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES]
Abstract

SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complejo de esclerosis tuberosa SEGA; TOSCA; Complex d'esclerosi tuberosa Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults. The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission.

Published
2019

29. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

Author

Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo Dahlin, Maria and D'Amato, Lisa d'Augeres, Guillaume Beaure de Vries, Petrus J. and Ferreira, Jose C. Feucht, Martha Fladrowski, Carla and Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. and Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias and Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. Shinohara, Nobuo Horie, Shigeo Kubota, Masaya Tohyama, Jun Imai, Katsumi Kaneda, Mari Kaneko, Hideo Uchida, Yasushi and Kirino, Tomoko Endo, Shoichi Inoue, Yoshikazu Uruno, Katsuhisa Serdaroglu, Ayse Yapici, Zuhal Anlar, Banu and Altunbasak, Sakir Lvova, Olga Belyaev, Oleg Valeryevich and Agranovich, Oleg Levitina, Elena Vladislavovna Maksimova, Yulia Vladimirovna Karas, Antonina Jiang, Yuwu Zou, Liping Xu, Kaifeng Zhang, Yushi Luan, Guoming Zhang, Yuqin Wang, Yi and Jin, Meiling Ye, Dingwei Liao, Weiping Zhou, Liemin and Liu, Jie Liao, Jianxiang Yan, Bo Deng, Yanchun Jiang, Li and Liu, Zhisheng Huang, Shaoping Li, Hua Kim, Kijoong and Chen, Pei-Lung Lee, Hsiu-Fen Tsai, Jeng-Dau Chi, Ching-Shiang Huang, Chao-Ching Riney, Kate Yates, Deborah and Kwan, Patrick Likasitwattanakul, Surachai Nabangchang, Charcrin Chomtho, Lunliya Thampratankul Krisnachai Katanyuwong, Kamornwan Sriudomkajorn, Somjit Wilmshurst, Jo Segel, Reeval and Gilboa, Tal Tzadok, Michal Fattal-Valevski, Aviva and Papathanasopoulos, Panagiotis Papavasiliou, Antigone Syrigou and Giannakodimos, Stylianos Gatz, Stylianos Pavlou, Evangelos and Tzoufi, Meropi Vergeer, A. M. H. Dhooghe, Marc Verhelst, Helene Roelens, Filip Nassogne, Marie Cecile Defresne, Pierre De Waele, Liesbeth Leroy, Patricia Demonceau, Nathalie Legros, Benjamin Van Bogaert, Patrick Ceulemans, Berten Dom, Lina Castelnau, Pierre Martin, Anne De St and Riquet, Audrey Milh, Mathieu Cances, Claude Pedespan, Jean-Michel Ville, Dorothee Roubertie, Agathe Auvin, Stephane Berquin, Patrick Richelme, Christian Allaire, Catherine Gueden, Sophie Tich, Sylvie Nguyen The Godet, Bertrand Rojas, Maria Luz Ruiz Falco Planas, Jaume Campistol and Bermejo, Antonio Martinez Dura, Patricia Smeyers Aparicio, Susana Roldan Gonzalez, Maria Jesus Martinez Pison, Javier Lopez and Barca, Manuel Oscar Blanco Laso, Eduardo Lopez Luengo, Olga Alonso Rodriguez, Francisco Javier Aguirre Dieguez, Ignacio Malaga Salas, Ana Camacho Carrera, Itxaso Marti Salcedo, Eduardo Martinez Petri, Maria Eugenia Yoldi Candela, Ramon Cancho Carrilho, Ines da Conceicao Vieira, Jose Pedro and Monteiro, Jose Paulo da Silva Oliveira Leao, Miguel Jorge Santos de Oliveira Ferreira Luis, Catarina Sofia Marceano Ribeiro and Mendonca, Carla Pires Endziniene, Milda Strautmanis, Jurgis and Talvik, Inga Canevini, Maria Paola Gambardella, Antonio and Pruna, Dario Buono, Salvatore Fontana, Elena Dalla Bernardina, Bernardo Burloiu, Carmen Cosma, Iuliu Stefan Bacos and Vintan, Mihaela Adela Popescu, Laura Zitterbart, Karel and Payerova, Jaroslava Bratsky, Ladislav Zilinska, Zuzana and Gruber-Sedlmayr, Ursula Baumann, Matthias Haberland, Edda and Rostasy, Kevin Pataraia, Ekaterina Elmslie, Frances and Johnston, Clare Ann Crawford, Pamela Uldall, Peter Uvebrant, Paul Rask, Olof Bjoernvold, Marit Brodtkorb, Eylert and Sloerdahl, Andreas Solhoff, Ragnar Jaatun, Martine Sofie Gilje and Mandera, Marek Radzikowska, Elzbieta Janina Wysocki, Mariusz and Fischereder, Michael Kurlemann, Gerhard Wilken, Bernd and Wiemer-Kruel, Adelheid Budde, Klemens Marquard, Klaus Knuf, Markus Hahn, Andreas Hartmann, Hans Merkenschlager, Andreas and Trollmann, Regina TOSCA Consortium TOSCA Investigators

Abstract

Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.

Published
2019

33. Seizure Management and Prescription Patterns of Anticonvulsants in Dravet Syndrome: A Multicenter Cohort Study from Germany and Review of Literature

Author

Schubert-Bast, Susanne, additional, Wolff, Markus, additional, Wiemer-Kruel, Adelheid, additional, von Spiczak, Sarah, additional, Trollmann, Regina, additional, Reif, Philipp S., additional, Pritchard, Clive, additional, Polster, Tilman, additional, Neubauer, Bernd A., additional, Mayer, Thomas, additional, Macdonald, Daniel, additional, Kurlemann, Gerhard, additional, Kluger, Gerhard, additional, and Mar, Karl, additional

Published
2019
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34. Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature

Author

Schubert-Bast, Susanne, primary, Wolff, Markus, additional, Wiemer-Kruel, Adelheid, additional, von Spiczak, Sarah, additional, Trollmann, Regina, additional, Reif, Philipp S., additional, Pritchard, Clive, additional, Polster, Tilman, additional, Neubauer, Bernd A., additional, Mayer, Thomas, additional, Macdonald, Daniel, additional, Kurlemann, Gerhard, additional, Kluger, Gerhard, additional, Klein, Karl Martin, additional, Kieslich, Matthias, additional, Kay, Lara, additional, Kalski, Malin, additional, Irwin, John, additional, Herting, Arne, additional, Carroll, Joe, additional, Bettendorf, Ulrich, additional, Bast, Thomas, additional, Rosenow, Felix, additional, and Strzelczyk, Adam, additional

Published
2019
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35. Safety and Efficacy of mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex under 2 Years of Age

Author

Saffari, Afshin, additional, Brösse, Ines, additional, Wiemer-Kruel, Adelheid, additional, Wilken, Bernd, additional, Kreuzaler, Paula, additional, Hahn, Andreas, additional, Bernhard, Matthias, additional, van Tilburg, Cornelis, additional, Hoffmann, Georg Friedrich, additional, Gorenflo, Matthias, additional, Hethey, Sven, additional, Kaiser, Olaf, additional, Kölker, Stefan, additional, Wagner, Robert, additional, Witt, Olaf, additional, Merkenschlager, Andreas, additional, Möckel, Andreas, additional, Roser, Timo, additional, Schlump, Jan-Ulrich, additional, Serfling, Antje, additional, Spiegler, Juliane, additional, Milde, Till, additional, Ziegler, Andreas, additional, and Syrbe, Steffen, additional

Published
2019
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36. A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany

Author

Strzelczyk, Adam, primary, Schubert‐Bast, Susanne, additional, Bast, Thomas, additional, Bettendorf, Ulrich, additional, Fiedler, Barbara, additional, Hamer, Hajo M., additional, Herting, Arne, additional, Kalski, Malin, additional, Kay, Lara, additional, Kieslich, Matthias, additional, Klein, Karl Martin, additional, Kluger, Gerhard, additional, Kurlemann, Gerhard, additional, Mayer, Thomas, additional, Neubauer, Bernd A., additional, Polster, Tilman, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Trollmann, Regina, additional, Wiemer‐Kruel, Adelheid, additional, Wolff, Markus, additional, Irwin, John, additional, Carroll, Joe, additional, Pritchard, Clive, additional, and Rosenow, Felix, additional

Published
2019
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37. Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation.

Author

Wiemer-Kruel, Adelheid, Mayer, Hans, Ewert, Peter, Martinoff, Stefan, Eckstein, Hans-Henning, Kriebel, Thomas, Bissler, John, Franz, David, and Bast, Thomas

Subjects
*AORTIC aneurysms, *HUMAN abnormalities, *TUBEROUS sclerosis, *DRUG side effects, *ANEURYSMS, *LYMPHANGIOMAS
Abstract

We present a 7-year-old boy with tuberous sclerosis and congenital segmental lymphedema (CSL) of the left leg, as well as two aortic aneurysms. He was treated with everolimus (EVE) since the age of 14 months. His CSL regressed under treatment with EVE. His first aneurysms required operative intervention at age of 17 months. Four months afterward a new aortic aneurysm had been detected above the Dracon graft, but this one remained stable since that time. The patient didn't experience severe side effects. EVE has been well tolerated without disturbance of somatic growth or serious adverse effect. [ABSTRACT FROM AUTHOR]

Published
2020
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38. P 256. Use of Ketogenic Diets in patients with Epilepsy and Metabolic Disorders in Germany, Austria, and Switzerland

Author

Marina, Adela Della, additional, Leiendecker, Bärbel, additional, Wiemer-Kruel, Adelheid, additional, Makowski, Christine, additional, Wohlrab, Gabriele, additional, Hofmann-Peters, Anne, additional, Scholl-Buergi, Sabine, additional, Stüve, Burkhard, additional, Assmann, Birgit, additional, von Stüpnagel, Celina, additional, Hartmann, Hans, additional, Hethey, Sven, additional, Classen, Georg, additional, Spiegler, Juliane, additional, Kröll-Seger, Judith, additional, Poggenburg, Imke, additional, Panzer, Axel, additional, Gross, Stephanie, additional, Och, Ulrike, additional, Klepper, Jörg, additional, and Schara, Ulrike, additional

Published
2018
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39. Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures

Author

Franz, David N., primary, Lawson, John A., additional, Yapici, Zuhal, additional, Brandt, Christian, additional, Kohrman, Michael H., additional, Wong, Michael, additional, Milh, Mathieu, additional, Wiemer‐Kruel, Adelheid, additional, Voi, Maurizio, additional, Coello, Neva, additional, Cheung, Wing, additional, Grosch, Kai, additional, and French, Jacqueline A., additional

Published
2018
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41. Seizure Management and Prescription Patterns of Anticonvulsants in Dravet Syndrome: A Multicenter Cohort Study from Germany and Review of Literature.

Author

Schubert-Bast, Susanne, Wolff, Markus, Wiemer-Kruel, Adelheid, von Spiczak, Sarah, Trollmann, Regina, Reif, Philipp S., Pritchard, Clive, Polster, Tilman, Neubauer, Bernd A., Mayer, Thomas, Macdonald, Daniel, Kurlemann, Gerhard, Kluger, Gerhard, and Mar, Karl

Subjects
LITERATURE reviews, ANTICONVULSANTS, COHORT analysis, LOW-carbohydrate diet
Published
2019
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42. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features

Author

Boudry-Labis, Elise, Demeer, Bénédicte, Le Caignec, Cédric, Isidor, Bertrand, Mathieu-Dramard, Michèle, Plessis, Ghislaine, George, Alice M., Taylor, Juliet, Aftimos, Salim, Wiemer-Kruel, Adelheid, Kohlhase, Jürgen, Annerén, Göran, Firth, Helen, Simonic, Ingrid, Vermeesch, Joris, Thuresson, Ann-Charlotte, Copin, Henri, Love, Donald R., and Andrieux, Joris

Published
2013
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44. Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status

Author

Berger, Andrea, Schroeter, Christiane, Wiemer-Kruel, Adelheid, Strobl, Karl, Hoffmann, Georg F., Rating, Dietz, Lebon, Pierre, Ernst, Jan Peter, Wolf, Nicole I., Pediatric surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, and CCA - Cancer biology and immunology

Abstract

Aicardi-Goutières syndrome (AGS) is a rare, progressive, autosomal recessive encephalopathy characterised by basal ganglia calcifications, chronic CSF lymphocytosis, and negative serological investigations for the common prenatal infections. The clinical profile is characterised by acquired microcephaly, mild to severe cognitive delay and dystonia. Epilepsy is usually not prominent. We report on a 19-year-old patient with an atypical clinical course, characterized by a relatively benign presentation at onset. Epilepsy with complex-focal seizures, possibly with a visual aura and sometimes with secondary generalization, started at the age of nine years. Clinical deterioration occurred later, and at the age of 17 years he experienced severe, generalized, myoclonic attacks lasting hours, which were partly controlled by the administration of piracetam.

Published
2007

48. Modified Atkins diet is an effective treatment for children with Doose syndrome

Author

Gabriele Wohlrab, Thomas Bast, Adelheid Wiemer-Kruel, Edda Haberlandt, Hans Hartmann, University of Zurich, and Wiemer-Kruel, Adelheid

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Pediatrics, medicine.medical_treatment, food.diet, Epilepsies, Myoclonic, 610 Medicine & health, law.invention, 03 medical and health sciences, Epilepsy, Diet, Carbohydrate-Restricted, 0302 clinical medicine, food, Randomized controlled trial, law, medicine, Humans, Cognitive decline, Child, Retrospective Studies, Atkins diet, business.industry, Retrospective cohort study, medicine.disease, Surgery, 030104 developmental biology, Treatment Outcome, 2728 Neurology (clinical), Neurology, Myoclonic astatic epilepsy, 10036 Medical Clinic, Child, Preschool, 2808 Neurology, Cohort, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Ketogenic diet
Abstract

SummaryObjective Children with myoclonic astatic epilepsy (MAE; Doose syndrome) whose seizures do not respond immediately to standard antiepileptic drugs (AEDs) are at high risk of developing an epileptic encephalopathy with cognitive decline. A classic ketogenic diet (KD) is a highly effective alternative to AEDs. To date, there are only limited data on the effectiveness of the modified Atkins diet (MAD), which is less restrictive and more compatible with daily life. We report findings from a retrospective study on 30 MAE patients treated with MAD. Methods Four participating centers retrospectively identified all patients with MAE in whom a MAD had been started before June 2015. Seven children were recruited from a cohort included in an open prospective controlled trial. A retrospective review of all available charts was performed in the other patients. Results Thirty patients (24 boys) were included. Mean age at epilepsy onset was 3.1 years (range 1.5–5.6). MAD was started at a mean age of 4.5 years (range 2.2–9.1) after the children had received an average of six different AEDs (range 2–15). Mean MAD observation time was 18.7 months (range 1.5–61.5). Twenty of 30 patients were still on MAD at the end of study (duration range 1.5–61.5, mean 18.5 months). MAD was stopped without relapse in three patients after sustained seizure freedom for >2 years. For the other seven cases, ineffectiveness (three patients), loss of efficacy (two), or noncompliance (two) led to termination. No severe adverse effects were noted. By the end of the observation period, 25 (83%) of 30 patients experienced a seizure reduction by ≥50% and 14 (47%) of 30 were seizure-free. None of the evaluated factors differed significantly between the groups of seizure-free and non–seizure-free children. Significance MAD is an effective treatment for MAE. It should be considered as an alternative to AEDs or the more restrictive classic ketogenic diet.

Published
2017

49. Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Author

Proepper CR, Schuetz SM, Schwarz LM, Au KV, Bast T, Beaud N, Borggraefe I, Bosch F, Budde J, Busse M, Chung J, Debus O, Diepold K, Fries T, Gersdorff GV, Haeussler M, Hahn A, Hartlieb T, Heiming R, Herkenrath P, Kluger G, Kreth JH, Kurlemann G, Moeller P, Morris-Rosendahl DJ, Panzer A, Philippi H, Ruegner S, Toepfer C, Vieker S, Wiemer-Kruel A, Winter A, Schuierer G, Hehr U, and Geis T

Abstract

Background:  Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms ( LIS1/PAFAH1B1 , DCX , DYNC1H1 , TUBA1A , TUBG1 ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports., Results:  All but two patients were diagnosed with epilepsy. Median age at seizure onset was 6 months (range: 2.1-42.0), starting with epileptic spasms in 70%. Standard treatment protocols with hormonal therapy (ACTH or corticosteroids) and/or vigabatrin were the most effective approach for epileptic spasms, leading to seizure control in 47%. Seizures later in the disease course were most effectively treated with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, resulting in seizure freedom in 20%. Regarding psychomotor development, lissencephaly patients presenting without epileptic spasms were significantly more likely to reach various developmental milestones compared to patients with spasms., Conclusion:  Classic lissencephaly is highly associated with drug-resistant epilepsy starting with epileptic spasms in most patients. The standard treatment protocols for infantile epileptic spasms syndrome lead to freedom from seizures in around half of the patients. Due to the association of epileptic spasms with an unfavorable course of psychomotor development, early and reliable diagnosis and treatment of spasms should be pursued. For epilepsies occurring later in childhood, ASM with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, appears to be most effective., Competing Interests: None declared., (Thieme. All rights reserved.)

Published
2024
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50. Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status.

Author

Berger A, Schroeter C, Wiemer-Kruel A, Strobl K, Hoffmann GF, Rating D, Lebon P, Ernst JP, and Wolf NI

Subjects
Adult, Basal Ganglia Diseases epidemiology, Brain Diseases epidemiology, Calcinosis diagnosis, Calcinosis epidemiology, Calcinosis pathology, Comorbidity, Epilepsies, Myoclonic epidemiology, Epilepsies, Partial epidemiology, Humans, Lymphocytosis cerebrospinal fluid, Lymphocytosis epidemiology, Male, Neuroprotective Agents therapeutic use, Piracetam therapeutic use, Syndrome, Treatment Outcome, Basal Ganglia Diseases diagnosis, Brain Diseases diagnosis, Epilepsies, Myoclonic diagnosis, Epilepsies, Partial diagnosis
Abstract

Aicardi-Goutières syndrome (AGS) is a rare, progressive, autosomal recessive encephalopathy characterised by basal ganglia calcifications, chronic CSF lymphocytosis, and negative serological investigations for the common prenatal infections. The clinical profile is characterised by acquired microcephaly, mild to severe cognitive delay and dystonia. Epilepsy is usually not prominent. We report on a 19-year-old patient with an atypical clinical course, characterized by a relatively benign presentation at onset. Epilepsy with complex-focal seizures, possibly with a visual aura and sometimes with secondary generalization, started at the age of nine years. Clinical deterioration occurred later, and at the age of 17 years he experienced severe, generalized, myoclonic attacks lasting hours, which were partly controlled by the administration of piracetam.[Published with video sequences].

Published
2007
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