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1. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Author

Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, and Verrotti, Alberto

Published
2024
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2. Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy

Author

Dell’Isola, Giovanni Battista, Fattorusso, Antonella, Pisani, Francesco, Mastrangelo, Mario, Cordelli, Duccio Maria, Pavone, Piero, Parisi, Pasquale, Ferretti, Alessandro, Operto, Francesca Felicia, Elia, Maurizio, Carotenuto, Marco, Pruna, Dario, Matricardi, Sara, Spezia, Elisabetta, Spalice, Alberto, Scorrano, Giovanna, Savasta, Salvatore, Prontera, Paolo, Di Cara, Giuseppe, Fruttini, Daniela, Salpietro, Vincenzo, Striano, Pasquale, and Verrotti, Alberto

Published
2024
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3. Epilepsy after acute central nervous system complications of pediatric hematopoietic cell transplantation: A retrospective, multicenter study

Author

Bergonzini, Luca, Leardini, Davide, Rao, Roberta, Foiadelli, Thomas, Faraci, Maura, Mancardi, Maria Margherita, Nobile, Giulia, Orsini, Alessandro, Savasta, Salvatore, Gottardi, Francesca, Fetta, Anna, Mina, Tommaso, Casazza, Gabriella, Menconi, Maria Cristina, Pruna, Dario, Mura, Rosa Maria, Piroddi, Antonio, Rucci, Paola, Masetti, Riccardo, and Cordelli, Duccio Maria

Published
2024
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5. The effect of executive function on health related quality of life in children with self-limited epilepsy with centrotemporal spikes

Author

Zanaboni, Martina Paola, Pasca, Ludovica, Bergamoni, Stefania, Bova, Stefania Maria, Celario, Massimiliano, Freri, Elena, Grumi, Serena, Filippini, Melissa, Leonardi, Valeria, Micheletti, Serena, Operto, Francesca Felicita, Papa, Amanda, Pastorino, Grazia Maria Giovanna, Peruzzi, Cinzia, Pruna, Dario, Ragona, Francesca, Raviglione, Federico, Totaro, Martina, Varesio, Costanza, and De Giorgis, Valentina

Published
2024
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7. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian and Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Published
2024
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9. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Aguglia, Umberto, Bagnasco, Irene, Bartolini, Emanuele, Battaglia, Domenica, Beccaria, Francesca, Belcastro, Vincenzo, Bernardo, Pia, Bonanni, Paolo, Boniver, Clementina, Bonuccelli, Alice, Briatore, Eleonora, Brigo, Francesco, Cesaroni, Elisabetta, Coa, Roberta, Costa, Cinzia, D'Aniello, Alfredo, De Giorgis, Valentina, Gennaro, Giancarlo Di, Ferrari, Anna Rita, Marchese, Francesca, Matricardi, Sara, Messana, Tullio, Morano, Alessandra, Operto, Francesca Felicia, Orsini, Alessandro, Parmeggiani, Lucio, Peruzzi, Cinzia, Pruna, Dario, Puligheddu, Monica, Pulitano, Patrizia, Ragona, Francesca, Romigi, Andrea, Rosati, Anna, Rosati, Eleonora, Russo, Angelo, Sartori, Stefano, Spagnoli, Carlotta, Spanò, Maria, Trabacca, Antonio, Troisi, Serena, Viri, Maurizio, Zucca, Claudio, Riva, Antonella, Coppola, Antonietta, Bonaventura, Carlo Di, Elia, Maurizio, Ferlazzo, Edoardo, Gobbi, Giuseppe, Marini, Carla, Meletti, Stefano, Romeo, Antonino, Santoro, Katia, Verrotti, Alberto, Capovilla, Giuseppe, and Striano, Pasquale

Published
2022
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10. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Abstract

IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

Published
2023
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12. Italian report on RARE epilepsies (i‐RARE): A consensus on multidisciplinarity.

Author

Riva, Antonella, Coppola, Antonietta, Bisulli, Francesca, Verrotti, Alberto, Bagnasco, Irene, Elia, Maurizio, Darra, Francesca, Lattanzi, Simona, Meletti, Stefano, La Neve, Angela, Di Gennaro, Giancarlo, Brambilla, Isabella, Santoro, Katia, Prisco, Tommaso, Macari, Francesca, Gambardella, Antonio, di Bonaventura, Carlo, Balestrini, Simona, Marini, Carla, and Pruna, Dario

Subjects
PATIENT advocacy, SEIZURES (Medicine), PEOPLE with epilepsy, THERAPEUTICS, PHYSICIANS
Abstract

Objective: Rare and complex epilepsies encompass a diverse range of disorders characterized by seizures. We aimed to establish a consensus on key issues related to these conditions through collaboration among experienced neurologists, neuropediatricians, and patient advocacy representatives. Methods: Employing a modified Delphi method, a scientific board comprising 20 physicians and 4 patient advocacy representatives synthesized existing literature with their expertise to formulate statements on contentious topics. A final 32‐member expert panel, representing diverse regions of Italy, validated these statements through a two‐round voting process, with consensus defined as an average score ≥7. Results: Sixteen statements reached a consensus, emphasizing the necessity for epidemiological studies to ascertain the true prevalence of rare epilepsies. Etiology emerged as a crucial factor influencing therapeutic strategies and outcome prediction, with particular concern regarding prolonged and tonic–clonic seizures. The importance of early implementation of specific drugs and non‐pharmacological interventions in the treatment algorithm for developmental and epileptic encephalopathies (DEEs) was underscored. Multidisciplinary care involving experts with diverse skills was deemed essential, emphasizing non‐seizure outcomes in adolescence and adulthood. Significance: This national consensus underscores the imperative for personalized, comprehensive, and multidisciplinary management of rare epilepsies/DEEs. It advocates for increased research, particularly in epidemiology and therapeutic approaches, to inform clinical decision‐making and healthcare policies, ultimately enhancing patients' outcomes. Plain Language Summary: The modified Delphi method is broadly used to evaluate debated topics. In this work, we sought the consensus on integrated and social care in epilepsy management. Both representatives of high‐level epilepsy centers and patients' caregivers were directly involved. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children

Author

Fetta, Anna, primary, Toni, Francesco, additional, Pettenuzzo, Ilaria, additional, Ricci, Emilia, additional, Rocca, Alessandro, additional, Gambi, Caterina, additional, Soliani, Luca, additional, Di Pisa, Veronica, additional, Martini, Silvia, additional, Sperti, Giacomo, additional, Cagnazzo, Valeria, additional, Accorsi, Patrizia, additional, Bartolini, Emanuele, additional, Battaglia, Domenica, additional, Bernardo, Pia, additional, Canevini, Maria Paola, additional, Ferrari, Anna Rita, additional, Giordano, Lucio, additional, Locatelli, Chiara, additional, Mancardi, Margherita, additional, Orsini, Alessandro, additional, Pippucci, Tommaso, additional, Pruna, Dario, additional, Rosati, Anna, additional, Suppiej, Agnese, additional, Tagliani, Sara, additional, Vaisfeld, Alessandro, additional, Vignoli, Aglaia, additional, Izumi, Kosuke, additional, Krantz, Ian, additional, and Cordelli, Duccio Maria, additional

Published
2024
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15. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Author

Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., and Rubboli, Guido

Published
2021
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16. A registry for Dravet syndrome: The Italian experience

Author

Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, Battaglia, Domenica (ORCID:0000-0003-0491-4021), Balestrini, Simona, Doccini, Viola, Giometto, Sabrina, Lucenteforte, Ersilia, De Masi, Salvatore, Giarola, Elisa, Brambilla, Isabella, Pieroni, Federica, Perulli, Marco, Battaglia, Domenica Immacolata, Specchio, Nicola, Ragona, Francesca, Granata, Tiziana, Pellacani, Simona, Ferrari, Annarita, Marini, Carla, Matricardi, Sara, Cesaroni, Elisabetta, Giordano, Lucio, Accorsi, Patrizia, Sciruicchio, Vittorio, Tinuper, Paolo, Messana, Tullio, Russo, Angelo, Pruna, Dario, Nosadini, Margherita, De Giorgis, Valentina, Caputo, Davide, Pellegrin, Serena, Lo Barco, Tommaso, Darra, Francesca, Dalla Bernardina, Bernardo, Guerrini, Renzo, and Battaglia, Domenica (ORCID:0000-0003-0491-4021)

Abstract

ObjectivesWe describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. MethodsStandardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. ResultsAt present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0-9) while at last follow-up was 11 years (IQR 5-18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). SignificanceThe Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its

Published
2023

17. EXTENDED GLASGOW OUTCOME SCALE TO EVALUATE THE FUNCTIONAL IMPAIRMENT OF PATIENTS WITH SUBCORTICAL BAND HETEROTOPIA: A MULTICENTRIC CROSS-SECTIONAL STUDY

Author

Toldo, Irene, primary, Brunello, Francesco, additional, Cavasin, Paola, additional, Nosadini, Margherita, additional, Sartori, Stefano, additional, Frigo, Anna Chiara, additional, Mai, Roberto, additional, Pelliccia, Veronica, additional, Mancardi, Maria Margherita, additional, Striano, Pasquale, additional, Severino, Marisavina, additional, Zara, Federico, additional, Rizzi, Romana, additional, Casellato, Susanna, additional, Di Rosa, Gabriella, additional, Mastrangelo, Mario, additional, Spalice, Alberto, additional, Budetta, Mauro, additional, De Palma, Luca, additional, Guerrini, Renzo, additional, Pruna, Dario, additional, Cordelli, Duccio Maria, additional, Sofia, Vito, additional, Papa, Amanda, additional, Chiesa, Valentina, additional, Ragona, Francesca, additional, Parisi, Pasquale, additional, D'Aniello, Alfredo, additional, Veggiotti, Pierangelo, additional, Dainese, Filippo, additional, Giordano, Lucio, additional, Licchetta, Laura, additional, Tinuper, Paolo, additional, D'Orsi, Giuseppe, additional, Cassina, Matteo, additional, and Manara, Renzo, additional

Published
2023
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19. An Italian consensus on the management of Lennox-Gastaut syndrome

Author

Riva, Antonella, primary, Coppola, Antonietta, additional, Bonaventura, Carlo Di, additional, Elia, Maurizio, additional, Ferlazzo, Edoardo, additional, Gobbi, Giuseppe, additional, Marini, Carla, additional, Meletti, Stefano, additional, Romeo, Antonino, additional, Santoro, Katia, additional, Verrotti, Alberto, additional, Capovilla, Giuseppe, additional, Striano, Pasquale, additional, Aguglia, Umberto, additional, Bagnasco, Irene, additional, Bartolini, Emanuele, additional, Battaglia, Domenica, additional, Beccaria, Francesca, additional, Belcastro, Vincenzo, additional, Bernardo, Pia, additional, Bonanni, Paolo, additional, Boniver, Clementina, additional, Bonuccelli, Alice, additional, Briatore, Eleonora, additional, Brigo, Francesco, additional, Cesaroni, Elisabetta, additional, Coa, Roberta, additional, Costa, Cinzia, additional, D'Aniello, Alfredo, additional, De Giorgis, Valentina, additional, Gennaro, Giancarlo Di, additional, Ferrari, Anna Rita, additional, Marchese, Francesca, additional, Matricardi, Sara, additional, Messana, Tullio, additional, Morano, Alessandra, additional, Operto, Francesca Felicia, additional, Orsini, Alessandro, additional, Parmeggiani, Lucio, additional, Peruzzi, Cinzia, additional, Pruna, Dario, additional, Puligheddu, Monica, additional, Pulitano, Patrizia, additional, Ragona, Francesca, additional, Romigi, Andrea, additional, Rosati, Anna, additional, Rosati, Eleonora, additional, Russo, Angelo, additional, Sartori, Stefano, additional, Spagnoli, Carlotta, additional, Spanò, Maria, additional, Trabacca, Antonio, additional, Troisi, Serena, additional, Viri, Maurizio, additional, and Zucca, Claudio, additional

Published
2022
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22. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

Author

Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thomas, Sanfilippo, Giuseppina, Lafe, Elvis, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, Sartori, Stefano, Po', Chiara, Nosadini, Margherita, Zedde, Marialuisa, Pascarella, Rosario, Mirone, Giuseppe, Cicala, Domenico, Rosati, Anna, Cosi, Alessandra, Toldo, Irene, Colombatti, Raffaella, Martelli, Paola, Iodice, Alessandro, Accorsi, Patrizia, Giordano, Lucio, Savasta, Salvatore, Foiadelli, Thoma, Sanfilippo, Giuseppina, Lafe, Elvi, Thyrion, Federico Zappoli, Polonara, Gabriele, Campa, Serena, Raviglione, Federico, Scelsa, Barbara, Bova, Stefania Maria, Greco, Filippo, Cordelli, Duccio Maria, Cirillo, Luigi, Toni, Francesco, Baro, Valentina, Causin, Francesco, Frigo, Anna Chiara, Suppiej, Agnese, Sainati, Laura, Azzolina, Danila, Agostini, Manuela, Cesaroni, Elisabetta, De Carlo, Luigi, Di Rosa, Gabriella, Esposito, Giacomo, Grazian, Luisa, Morini, Giovanna, Nicita, Francesco, Operto, Francesca Felicia, Pruna, Dario, Ragazzi, Paola, Rollo, Massimo, Spalice, Alberto, Striano, Pasquale, Skabar, Aldo, Lanterna, Luigi Alberto, Carai, Andrea, Marras, Carlo Efisio, Manara, Renzo, and Sartori, Stefano

Subjects
arteriopathy, indirect revascularization, aspirin, moyamoya, cerebrovascular event, transient ischemic attack, Pediatrics, Perinatology and Child Health, cerebrovascular events, headache, stroke, NO
Abstract

BackgroundMoyamoya is a rare progressive cerebral arteriopathy, occurring as an isolated phenomenon (moyamoya disease, MMD) or associated with other conditions (moyamoya syndrome, MMS), responsible for 6–10% of all childhood strokes and transient ischemic attacks (TIAs).MethodsWe conducted a retrospective multicenter study on pediatric-onset MMD/MMS in Italy in order to characterize disease presentation, course, management, neuroradiology, and outcome in a European country.ResultsA total of 65 patients (34/65 women) with MMD (27/65) or MMS (38/65) were included. About 18% (12/65) of patients were asymptomatic and diagnosed incidentally during investigations performed for an underlying condition (incMMS), whereas 82% (53/65) of patients with MMD or MMS were diagnosed due to the presence of neurological symptoms (symptMMD/MMS). Of these latter, before diagnosis, 66% (43/65) of patients suffered from cerebrovascular events with or without other manifestations (ischemic stroke 42%, 27/65; TIA 32%, 21/65; and no hemorrhagic strokes), 18% (12/65) of them reported headache (in 4/12 headache was not associated with any other manifestation), and 26% (17/65) of them experienced multiple phenotypes (≥2 among: stroke/TIA/seizures/headache/others). Neuroradiology disclosed ≥1 ischemic lesion in 67% (39/58) of patients and posterior circulation involvement in 51% (30/58) of them. About 73% (47/64) of patients underwent surgery, and 69% (45/65) of them received aspirin, but after diagnosis, further stroke events occurred in 20% (12/61) of them, including operated patients (11%, 5/47). Between symptom onset and last follow-up, the overall patient/year incidence of stroke was 10.26% (IC 95% 7.58–13.88%). At last follow-up (median 4 years after diagnosis, range 0.5–15), 43% (26/61) of patients had motor deficits, 31% (19/61) of them had intellectual disability, 13% (8/61) of them had epilepsy, 11% (7/61) of them had behavioral problems, and 25% (13/52) of them had mRS > 2. The proportion of final mRS > 2 was significantly higher in patients with symptMMD/MMS than in patients with incMMS (p = 0.021). Onset age p = 0.0010 and p = 0.0071, respectively) and mRS > 2 at follow-up (p = 0.0106 and p = 0.0009, respectively).ConclusionsMoyamoya is a severe condition that may affect young children and frequently cause cerebrovascular events throughout the disease course, but may also manifest with multiple and non-cerebrovascular clinical phenotypes including headache (isolated or associated with other manifestations), seizures, and movement disorder. Younger onset age and stroke before diagnosis may associate with increased risk of worse outcome (final mRS > 2).

Published
2022

23. The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series

Author

Santangelo, Andrea, primary, Bartolini, Emanuele, additional, Nuzzi, Giulia, additional, Foiadelli, Thomas, additional, Michev, Alexandre, additional, Mina, Tommaso, additional, Trambusti, Irene, additional, Fichera, Valeria, additional, Bonuccelli, Alice, additional, Massimetti, Gabriele, additional, Peroni, Diego G., additional, De Marco, Emanuela, additional, Coccoli, Luca, additional, Luti, Laura, additional, Bernasconi, Sayla, additional, Nardi, Margherita, additional, Menconi, Maria Cristina, additional, Casazza, Gabriella, additional, Pruna, Dario, additional, Mura, Rosamaria, additional, Marra, Chiara, additional, Zama, Daniele, additional, Striano, Pasquale, additional, Cordelli, Duccio M., additional, Battini, Roberta, additional, and Orsini, Alessandro, additional

Published
2022
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25. Reflex myoclonic epilepsy in infancy: A multicenter clinical study

Author

Verrotti, Alberto, Matricardi, Sara, Capovilla, Giuseppe, D’Egidio, Claudia, Cusmai, Raffaella, Romeo, Antonino, Pruna, Dario, Pavone, Piero, Cappanera, Silvia, Granata, Tiziana, Gobbi, Giuseppe, Striano, Pasquale, Grosso, Salvatore, Parisi, Pasquale, Franzoni, Emilio, Striano, Salvatore, Spalice, Alberto, Marino, Raffaella, Vigevano, Federico, and Coppola, Giangennaro

Published
2013
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26. Long-term outcome of epilepsy in patients with Prader–Willi syndrome

Author

Verrotti, Alberto, Cusmai, Raffaella, Laino, Daniela, Falsaperla, Raffaele, Margari, Lucia, Rizzo, Renata, Savasta, Salvatore, Grosso, Salvatore, Striano, Pasquale, Belcastro, Vincenzo, Franzoni, Emilio, Curatolo, Paolo, Giordano, Lucio, Freri, Elena, Matricardi, Sara, Pruna, Dario, Toldo, Irene, Tozzi, Elisabetta, Lobefalo, Lucio, Operto, Francesca, Altobelli, Emma, Chiarelli, Francesco, and Spalice, Alberto

Published
2015
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27. Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort

Author

Po', Chiara, primary, Nosadini, Margherita, additional, Zedde, Marialuisa, additional, Pascarella, Rosario, additional, Mirone, Giuseppe, additional, Cicala, Domenico, additional, Rosati, Anna, additional, Cosi, Alessandra, additional, Toldo, Irene, additional, Colombatti, Raffaella, additional, Martelli, Paola, additional, Iodice, Alessandro, additional, Accorsi, Patrizia, additional, Giordano, Lucio, additional, Savasta, Salvatore, additional, Foiadelli, Thomas, additional, Sanfilippo, Giuseppina, additional, Lafe, Elvis, additional, Thyrion, Federico Zappoli, additional, Polonara, Gabriele, additional, Campa, Serena, additional, Raviglione, Federico, additional, Scelsa, Barbara, additional, Bova, Stefania Maria, additional, Greco, Filippo, additional, Cordelli, Duccio Maria, additional, Cirillo, Luigi, additional, Toni, Francesco, additional, Baro, Valentina, additional, Causin, Francesco, additional, Frigo, Anna Chiara, additional, Suppiej, Agnese, additional, Sainati, Laura, additional, Azzolina, Danila, additional, Agostini, Manuela, additional, Cesaroni, Elisabetta, additional, De Carlo, Luigi, additional, Di Rosa, Gabriella, additional, Esposito, Giacomo, additional, Grazian, Luisa, additional, Morini, Giovanna, additional, Nicita, Francesco, additional, Operto, Francesca Felicia, additional, Pruna, Dario, additional, Ragazzi, Paola, additional, Rollo, Massimo, additional, Spalice, Alberto, additional, Striano, Pasquale, additional, Skabar, Aldo, additional, Lanterna, Luigi Alberto, additional, Carai, Andrea, additional, Marras, Carlo Efisio, additional, Manara, Renzo, additional, and Sartori, Stefano, additional

Published
2022
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28. Benign convulsions associated with mild gastroenteritis: A multicenter clinical study

Author

Verrotti, Alberto, Nanni, Giuliana, Agostinelli, Sergio, Parisi, Pasquale, Capovilla, Giuseppe, Beccaria, Francesca, Iannetti, Paola, Spalice, Alberto, Coppola, Giangennaro, Franzoni, Emilio, Gentile, Valentina, Casellato, Susanna, Veggiotti, Pierangelo, Malgesini, Sara, Crichiutti, Giovanni, Balestri, Paolo, Grosso, Salvatore, Zamponi, Nelia, Incorpora, Gemma, Savasta, Salvatore, Costa, Paola, Pruna, Dario, and Chiarelli, Francesco

Published
2011
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30. Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals

Author

Fetta, Anna, primary, Soliani, Luca, additional, Trevisan, Alessia, additional, Pugliano, Rosa, additional, Ricci, Emilia, additional, Di Pisa, Veronica, additional, Pignataro, Veronica, additional, Angotti, Marida, additional, Rocca, Alessandro, additional, Salce, Bianca, additional, Mancardi, Maria Margherita, additional, Giordano, Lucio, additional, Pruna, Dario, additional, Parmeggiani, Antonia, additional, and Cordelli, Duccio Maria, additional

Published
2022
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31. Sleep in Children With Pallister Killian Syndrome: A Prospective Clinical and Videopolysomnographic Study

Author

Fetta, Anna, primary, Di Pisa, Veronica, additional, Ruscelli, Martina, additional, Soliani, Luca, additional, Sperti, Giacomo, additional, Ubertiello, Sara, additional, Ricci, Emilia, additional, Mainieri, Greta, additional, Rocca, Alessandro, additional, Mancardi, Maria Margherita, additional, Giordano, Lucio, additional, Pruna, Dario, additional, Vignoli, Aglaia, additional, Provini, Federica, additional, and Cordelli, Duccio Maria, additional

Published
2021
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32. WISC‐IVintellectual profiles in Italian children with self‐limited epilepsy with centrotemporal spikes

Author

Zanaboni, Martina Paola, Pasca, Ludovica, Bova, Stefania Maria, Chiappedi, Matteo Alessio, Filippini, Melissa, Giordano, Lucio, Grumi, Serena, Micheletti, Serena, Operto, Francesca F., Pruna, Dario, Ragona, Francesca, Raviglione, Federico, Totaro, Martina, Varesio, Costanza, Vignoli, Aglaia, and De Giorgis, Valentina

Abstract

This study aimed to describe the intellectual profile based on the Wechsler Intelligence Scale for Children 4th edition (WISC‐IV) in children with self‐limited epilepsy with centrotemporal spikes (SeLECTS), with an attempt to define possible predictive epilepsy‐related variables of cognitive performance. The WISC‐IV was assessed in 161 children with SeLECTS and their cognitive profiles were compared to a matched sample of healthy control children. Children with SeLECTS performed within normal range across all indices, demonstrating particular strength based on the Perceptual Reasoning Index. Compared to healthy control children, we observed a significant difference in performance based on the Full Scale Intelligence Quotient, Verbal Comprehension Index and Processing Speed Index. Regarding epilepsy‐related variables, earlier onset of epilepsy, use of anti‐seizure medications, the presence of neurodevelopmental disorders, a higher frequency of seizures, and a longer treatment duration were associated with an overall lower level of performance. Children with SeLECTS performed within the average range for cognitive assessment based on the WISC‐IV, demonstrating that children had normal levels of global intelligence. However, compared to healthy control children, children with SeLECTS showed a slightly lower level of performance. Reasoning skills represented the relative strengths in children with SeLECTS. Predictors of intellectual performance in patients with SeLECTS include epilepsy‐related variables and neurodevelopmental comorbidities.

Published
2023
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35. Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

Author

Aridon, Paolo, Marini, Carla, Di Resta, Chiara, Brilli, Elisa, De Fusco, Maurizio, Politi, Fausta, Parrini, Elena, Manfredi, Irene, Pisano, Tiziana, Pruna, Dario, Curia, Giulia, Cianchetti, Carlo, Pasqualetti, Massimo, Becchetti, Andrea, Guerrini, Renzo, and Casari, Giorgio

Subjects
Nicotinic receptors -- Research, Gene mutations -- Research, Epilepsy -- Genetic aspects, Genetic research, Biological sciences
Abstract

A clinical and molecular genetic study of the large pedigree segregating sleep-related epilepsy is performed where the seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. The positional candidate neuronal cholinergic receptor alpha2 subunit gene (CHRNA2) is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies and the CHRNA2 mutations are found to cause a more complex and finalized ictal behavior.

Published
2006

40. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

Author

Scala, Marcello, primary, Bianchi, Amedeo, additional, Bisulli, Francesca, additional, Coppola, Antonietta, additional, Elia, Maurizio, additional, Trivisano, Marina, additional, Pruna, Dario, additional, Pippucci, Tommaso, additional, Canafoglia, Laura, additional, Lattanzi, Simona, additional, Franceschetti, Silvana, additional, Nobile, Carlo, additional, Gambardella, Antonio, additional, Michelucci, Roberto, additional, Zara, Federico, additional, and Striano, Pasquale, additional

Published
2020
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42. Erratum to: Long-term outcome of epilepsy in patients with Prader–Willi syndrome

Author

Verrotti, Alberto, Cusmai, Raffaella, Laino, Daniela, Carotenuto, Marco, Esposito, Maria, Falsaperla, Raffaele, Margari, Lucia, Rizzo, Renata, Savasta, Salvatore, Grosso, Salvatore, Striano, Pasquale, Belcastro, Vincenzo, Franzoni, Emilio, Curatolo, Paolo, Giordano, Lucio, Freri, Elena, Matricardi, Sara, Pruna, Dario, Toldo, Irene, Tozzi, Elisabetta, Lobefalo, Lucio, Operto, Francesca, Altobelli, Emma, Chiarelli, Francesco, and Spalice, Alberto

Published
2015
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46. 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

47. 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

48. 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

49. 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

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