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448 results on '"Giordano, Lucio"'

3. 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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4. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

Author

Ricci, Emilia, Fetta, Anna, Garavelli, Livia, Caraffi, Stefano, Ivanovski, Ivan, Bonanni, Paolo, Accorsi, Patrizia, Giordano, Lucio, Pantaleoni, Chiara, Romeo, Antonino, Arena, Alessia, Bonetti, Silvia, Boni, Antonella, Chiarello, Daniela, Di Pisa, Veronica, Epifanio, Roberta, Faravelli, Francesca, Finardi, Erica, Fiumara, Agata, Grioni, Daniele, Mammi, Isabella, Negrin, Susanna, Osanni, Elisa, Raviglione, Federico, Rivieri, Francesca, Rizzi, Romana, Savasta, Salvatore, Tarani, Luigi, Zanotta, Nicoletta, Dormi, Ada, Vignoli, Aglaia, Canevini, Mariapaola, and Cordelli, Duccio M.

Published
2021
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6. Lung recruitment before surfactant administration in extremely preterm neonates with respiratory distress syndrome (IN-REC-SUR-E): a randomised, unblinded, controlled trial

Author

Vento, Giovanni, Ventura, Maria Luisa, Pastorino, Roberta, van Kaam, Anton H, Carnielli, Virgilio, Cools, Filip, Dani, Carlo, Mosca, Fabio, Polglase, Graeme, Tagliabue, Paolo, Boni, Luca, Cota, Francesco, Tana, Milena, Tirone, Chiara, Aurilia, Claudia, Lio, Alessandra, Costa, Simonetta, D'Andrea, Vito, Lucente, Mariella, Nigro, Gabriella, Giordano, Lucio, Roma, Vincenzina, Villani, Paolo E, Fusco, Francesca P, Fasolato, Valeria, Colnaghi, Maria Rosa, Matassa, Piero G, Vendettuoli, Valentina, Poggi, Chiara, Del Vecchio, Antonio, Petrillo, Flavia, Betta, Pasqua, Mattia, Carmine, Garani, Giampaolo, Solinas, Agostina, Gitto, Eloisa, Salvo, Vincenzo, Gargano, Giancarlo, Balestri, Eleonora, Sandri, Fabrizio, Mescoli, Giovanna, Martinelli, Stefano, Ilardi, Laura, Ciarmoli, Elena, Di Fabio, Sandra, Maranella, Eugenia, Grassia, Carolina, Ausanio, Gaetano, Rossi, Vincenzo, Motta, Angela, Tina, Lucia G, Maiolo, Kim, Nobile, Stefano, Messner, Hubert, Staffler, Alex, Ferrero, Federica, Stasi, Ilaria, Pieragostini, Luisa, Mondello, Isabella, Haass, Cristina, Consigli, Chiara, Vedovato, Stefania, Grison, Alessandra, Maffei, Gianfranco, Presta, Giuseppe, Perniola, Roberto, Vitaliti, Marcello, Re, Maria P, De Curtis, Mario, Cardilli, Viviana, Lago, Paola, Tormena, Francesca, Orfeo, Luigi, Gizzi, Camilla, Massenzi, Luca, Gazzolo, Diego, Strozzi, Maria Chiara M, Bottino, Roberto, Pontiggia, Federica, Berardi, Alberto, Guidotti, Isotta, Cacace, Caterina, Meli, Valerio, Quartulli, Lorenzo, Scorrano, Antonio, Casati, Alessandra, Grappone, Lidia, and Pillow, J Jane

Published
2021
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7. Posterior Reversible Encephalopathy Syndrome in infants and young children

Author

Cordelli, Duccio Maria, Marra, Chiara, Ciampoli, Lara, Barbon, Davide, Toni, Francesco, Zama, Daniele, Giordano, Lucio, Milito, Giuseppe, Sartori, Stefano, Sainati, Laura, Foiadelli, Thomas, Mina, Tommaso, Fusco, Lucia, Santarone, Marta, Iurato, Chiara, Orsini, Alessandro, Farello, Giovanni, Verrotti, Alberto, Aceti, Arianna, and Masetti, Riccardo

Published
2021
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8. Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Author

Balagura, Ganna, Riva, Antonella, Marchese, Francesca, Iacomino, Michele, Madia, Francesca, Giacomini, Thea, Mancardi, Maria Margherita, Amadori, Elisabetta, Vari, Maria Stella, Salpietro, Vincenzo, Russo, Angelo, Messana, Tullio, Vignoli, Aglaia, Chiesa, Valentina, Giordano, Lucio, Accorsi, Patrizia, Caffi, Lorella, Orsini, Alessandro, Bonuccelli, Alice, Santucci, Margherita, Vecchi, Marilena, Vanadia, Francesca, Milito, Giuseppe, Fusco, Carlo, Cricchiutti, Giovanni, Carpentieri, Marilisa, Margari, Lucia, Spalice, Alberto, Beccaria, Francesca, Benfenati, Fabio, Zara, Federico, and Striano, Pasquale

Published
2020
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9. Epilepsy Course and Developmental Trajectories in STXBP1-DEE

Author

Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, and Striano, Pasquale

Published
2022
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10. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

Author

Coppola, Antonietta, primary, Krithika, S., additional, Iacomino, Michele, additional, Bobbili, Dheeraj, additional, Balestrini, Simona, additional, Bagnasco, Irene, additional, Bilo, Leonilda, additional, Buti, Daniela, additional, Casellato, Susanna, additional, Cuccurullo, Claudia, additional, Ferlazzo, Edoardo, additional, Leu, Costin, additional, Giordano, Lucio, additional, Gobbi, Giuseppe, additional, Hernandez‐Hernandez, Laura, additional, Lench, Nick, additional, Martins, Helena, additional, Meletti, Stefano, additional, Messana, Tullio, additional, Nigro, Vincenzo, additional, Pinelli, Michele, additional, Pippucci, Tommaso, additional, Bellampalli, Ravishankara, additional, Salis, Barbara, additional, Sofia, Vito, additional, Striano, Pasquale, additional, Striano, Salvatore, additional, Tassi, Laura, additional, Vignoli, Aglaia, additional, Vaudano, Anna Elisabetta, additional, Viri, Maurizio, additional, Scheffer, Ingrid E., additional, May, Patrick, additional, Zara, Federico, additional, and Sisodiya, Sanjay M., additional

Published
2023
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11. External Validation of a Multivariate Model for Targeted Surfactant Replacement

Author

Raimondi, Francesco, primary, Dolce, Pasquale, additional, Veropalumbo, Claudio, additional, Sierchio, Enrico, additional, Gregorio Hernandez, Rebeca, additional, Rodriguez Fanjul, Javier, additional, Meneghin, Fabio, additional, Raschetti, Roberto, additional, Bonadies, Luca, additional, Corsini, Iuri, additional, Alonso Ojembarrena, Almudena, additional, Salomè, Serena, additional, Rodeño Fernandez, Lorena, additional, Sanchez Luna, Manuel, additional, Lista, Gianluca, additional, Mosca, Fabio, additional, Dani, Carlo, additional, Baraldi, Eugenio, additional, Giordano, Lucio, additional, Davis, Peter G, additional, and Capasso, Letizia, additional

Published
2023
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12. Electroclinical features and phenotypic differences in Adenylosuccinate lyase deficiency: long term follow‐up of seven patients from four families and appraisal of the literature

Author

Cutillo, Gianni, primary, Masnada, Silvia, additional, Lesca, Gaetan, additional, Ville, Dorothée, additional, Accorsi, Patrizia, additional, Giordano, Lucio, additional, Pichiecchio, Anna, additional, Valente, Marialuisa, additional, Borrelli, Paola, additional, Ferraro, Ottavia Eleonora, additional, and Veggiotti, Pierangelo, additional

Published
2023
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13. Electroclinical Features of Epilepsy in Kleefstra Syndrome

Author

Giacomini, Thea, additional, Cordani, Ramona, additional, Bagnasco, Irene, additional, Vercellino, Fabiana, additional, Giordano, Lucio, additional, Milito, Giuseppe, additional, Ferrero, Giovanni Battista, additional, Mandrile, Giorgia, additional, Scala, Marcello, additional, Meli, Mariaclaudia, additional, Falsaperla, Raffaele, additional, Luria, Gianvittorio, additional, De Grandis, Elisa, additional, Canale, Edoardo, additional, Amadori, Elisabetta, additional, Striano, Pasquale, additional, Nobili, Lino, additional, and Siri, Laura, additional

Published
2023
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14. 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. Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Author

Coppola, Antonietta, Krithika, S., Iacomino, Michele, Bobbili, Dheeraj, Balestrini, Simona, Bagnasco, Irene, Bilo, Leonilda, Buti, Daniela, Casellato, Susanna, Cuccurullo, Claudia, Ferlazzo, Edoardo, Leu, Costin, Giordano, Lucio, Gobbi, Giuseppe, Hernandez‐Hernandez, Laura, Lench, Nick, Martins, Helena, Meletti, Stefano, Messana, Tullio, and Nigro, Vincenzo

Subjects
GENETICS, EYELIDS, EPILEPSY, GENETIC variation, MENTAL illness
Abstract

Objective: Epilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure‐induced seizures with electroencephalographic paroxysms, and photosensitivity. Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and GABRA1 have been reported in individuals with photosensitivity and eyelid myoclonia, but whether other genes are also involved, or a single gene is uniquely linked with EEM, or its subtypes, is not yet known. We aimed to dissect the genetic etiology of EEM. Methods: We studied a cohort of 105 individuals by using whole exome sequencing. Individuals were divided into two groups: EEM− (isolated EEM) and EEM+ (EEM accompanied by intellectual disability [ID] or any other neurodevelopmental/psychiatric disorder). Results: We identified nine variants classified as pathogenic/likely pathogenic in the entire cohort (8.57%); among these, eight (five in CHD2, one in NEXMIF, one in SYNGAP1, and one in TRIM8) were found in the EEM+ subcohort (28.57%). Only one variant (IFIH1) was found in the EEM− subcohort (1.29%); however, because the phenotype of the proband did not fit with published data, additional evidence is needed before considering IFIH1 variants and EEM− an established association. Burden analysis did not identify any single burdened gene or gene set. Significance: Our results suggest that for EEM, as for many other epilepsies, the identification of a genetic cause is more likely with comorbid ID and/or other neurodevelopmental disorders. Pathogenic variants were mostly found in CHD2, and the association of CHD2 with EEM+ can now be considered a reasonable gene–disease association. We provide further evidence to strengthen the association of EEM+ with NEXMIF and SYNGAP1. Possible new associations between EEM+ and TRIM8, and EEM− and IFIH1, are also reported. Although we provide robust evidence for gene variants associated with EEM+, the core genetic etiology of EEM− remains to be elucidated. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long‐term follow‐up of seven patients from four families and appraisal of the literature.

Author

Cutillo, Gianni, Masnada, Silvia, Lesca, Gaetan, Ville, Dorothée, Accorsi, Patrizia, Giordano, Lucio, Pichiecchio, Anna, Valente, Marialuisa, Borrelli, Paola, Ferraro, Ottavia Eleonora, and Veggiotti, Pierangelo

Subjects
HETEROZYGOSITY, CEREBRAL atrophy, LITERATURE reviews, PHENOTYPES, MUTANT proteins, WHITE matter (Nerve tissue)
Abstract

Objective: Adenylosuccinate lyase (ADSL) deficiency is a rare inherited metabolic disorder with a wide phenotypic presentation, classically grouped into three types (neonatal, type I, and type II). We aim to better delineate the pathological spectrum, focusing on the electroclinical characteristics and phenotypic differences of patients with ADSL deficiency. Patients and Methods: Seven patients, from four different families, underwent serial electroencephalogram (EEG), clinical assessment, and neuroimaging. We also performed a systematic review of the cases published in the literature, summarizing the available clinical, neurophysiological, and genetic data. Results: We report seven previously unreported ADSL deficiency patients with long‐term follow‐up (10–34 years). From the literature review, we collected 81 previously reported cases. Of the included patient population, 58 % (51/88) were classified as having ADSL deficiency type I, 28% (25/88) as having type II, and 14% (12/88) as having neonatal. The most frequently reported pathogenic variants are p.R426H homozygous (19 patients), p.Y114H in compound heterozygosity (13 patients), and p.D430N homozygous (6 patients). In the majority (89.2%), disease onset was within the first year of life. Epilepsy is present in 81.8% of the patients, with polymorphic and often intractable seizures. EEG features seem to display common patterns and developmental trajectories: (i) poor general background organization with theta‐delta activity; (ii) hypsarrhythmia with spasms, usually adrenocorticotropic hormone‐responsive; (iii) generalized epileptic discharges with frontal or frontal temporal predominance; and (iv) epileptic discharge activation in sleep with an altered sleep structure. Imaging features present consistent findings of cerebral atrophy with frontal predominance, cerebellar atrophy, and white matter abnormalities among the three types. Significance: ADSL deficiency presents variable phenotypic expression, whose severity could be partially attributed to residual activity of the mutant protein. Although a precise phenotype‐genotype correlation was not yet feasible, we delineated a common pattern of clinical, neuroradiological, and neurophysiological features. [ABSTRACT FROM AUTHOR]

Published
2024
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18. External Validation of a Multivariate Model for Targeted Surfactant Replacement.

Author

Raimondi, Francesco, Dolce, Pasquale, Veropalumbo, Claudio, Sierchio, Enrico, Gregorio Hernandez, Rebeca, Rodriguez Fanjul, Javier, Meneghin, Fabio, Raschetti, Roberto, Bonadies, Luca, Corsini, Iuri, Alonso Ojembarrena, Almudena, Salomè, Serena, Rodeño Fernandez, Lorena, Sanchez Luna, Manuel, Lista, Gianluca, Mosca, Fabio, Dani, Carlo, Baraldi, Eugenio, Giordano, Lucio, and Davis, Peter G

Subjects
SURFACE active agents, RESPIRATORY distress syndrome, PREMATURE infants, MODEL validation, OXYGEN saturation
Abstract

Introduction: Early targeted surfactant therapy for preterm infants is recommended but the best criteria to personalize treatment are unclear. We validate a previously published multivariate prognostic model based on gestational age (GA), lung ultrasound score (LUS), and oxygen saturation to inspire oxygen fraction ratio (SatO2/FiO2) using an independent data set. Methods: Pragmatic, observational study in 10 Italian and Spanish NICUs, including preterm babies (250 and 336 weeks divided into 3 GA intervals) with clinical signs of respiratory distress syndrome and stabilized on CPAP. LUS and SatO2/FiO2 were collected soon after stabilization. Their prognostic accuracy was evaluated on the subsequent surfactant administration by a rigorously masked physician. Results: One hundred seventy-five infants were included in the study. Surfactant was given to 74% infants born at 25–27 weeks, 38.5% at 28–30 weeks, and 26.5% at 31–33 weeks. The calibration curve comparing the validation and the development populations showed significant overlap with an intercept = 0.08, 95% CI (−0.34; 0.5) and a slope = 1.53, 95% CI (1.07–1.98). The validation cohort had a high predictive accuracy. Its ROC curve showed an AUC = 0.95, 95% CI (0.91–0.99) with sensitivity = 0.93, 95% CI (0.83–0.98), specificity = 0.81, 95% CI (0.73–0.88), PPV = 0.76, 95% CI (0.65–0.84), NPV = 0.95, 95% CI (0.88–0.98). LUS ≥9 demonstrated the highest sensitivity (0.91, 95% CI [0.82–0.97]) and specificity = 0.81, 95% CI (0.72–0.88) as individual predictor. LUS and SatO2/FiO2 prognostic performances varied with GA. Conclusion: We validated a prognostic model based on LUS and Sat/FiO2 to facilitate early, customized surfactant administration that may improve respiratory management of preterm neonates. [ABSTRACT FROM AUTHOR]

Published
2024
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21. Cannabidiol in the acute phase of Febrile Infection‐Related Epilepsy Syndrome ( FIRES )

Author

Fetta, Anna, primary, Crotti, Elisa, additional, Campostrini, Elena, additional, Bergonzini, Luca, additional, Cesaroni, Carlo Alberto, additional, Conti, Francesca, additional, Di Pisa, Veronica, additional, Gentile, Valentina, additional, Mondardini, Maria Cristina, additional, Vezzoli, Cesare, additional, Giordano, Lucio, additional, and Cordelli, Duccio Maria, additional

Published
2023
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22. Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Author

Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M., Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria R., Johannesen, Kathrine M., Møller, Rikke S., Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, and Striano, Pasquale

Published
2020
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23. Mowat-Wilson syndrome: growth charts

Author

Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P., Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Møller, Rikke S., Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, and Garavelli, Livia

Published
2020
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24. Epilepsy in ring chromosome 20 syndrome

Author

Vignoli, Aglaia, Bisulli, Francesca, Darra, Francesca, Mastrangelo, Massimo, Barba, Carmen, Giordano, Lucio, Turner, Katherine, Zambrelli, Elena, Chiesa, Valentina, Bova, Stefania, Fiocchi, Isabella, Peron, Angela, Naldi, Ilaria, Milito, Giuseppe, Licchetta, Laura, Tinuper, Paolo, Guerrini, Renzo, Dalla Bernardina, Bernardo, and Canevini, Maria Paola

Published
2016
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25. Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Author

Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, and Garavelli, Livia

Published
2018
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26. 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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27. 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, and Guerrini, Renzo

Subjects
Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Neurology, natural history, rare disease, SCN1A, Neurology (clinical), registry, epilepsy syndrome
Published
2023

30. Magnetic Resonance Biomarkers and Neurological Outcome of Infants with Mild Hypoxic-Ischaemic Encephalopathy Who Progress to Moderate Hypoxic-Ischaemic Encephalopathy

Author

Montaldo, Paolo, primary, Puzone, Simona, additional, Caredda, Elisabetta, additional, Galdo, Francesca, additional, Pugliese, Umberto, additional, Maietta, Anna, additional, Ascione, Serena, additional, Diplomatico, Mario, additional, Spagnuolo, Ferdinando, additional, Roma, Vincenzina, additional, De Vivo, Massimiliano, additional, Carpentieri, Mauro, additional, Moschella, Sabino, additional, Giordano, Lucio, additional, D’Amico, Alessandra, additional, Capristo, Carlo, additional, Travan, Laura, additional, Chello, Giovanni, additional, Miraglia del Giudice, Emanuele, additional, and Cirillo, Mario, additional

Published
2022
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31. EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome

Author

Masnada, Silvia, primary, Alfei, Enrico, additional, Formica, Manuela, additional, Previtali, Roberto, additional, Accorsi, Patrizia, additional, Arrigoni, Filippo, additional, Bonanni, Paolo, additional, Borgatti, Renato, additional, Darra, Francesca, additional, Fusco, Carlo, additional, De Giorgis, Valentina, additional, Giordano, Lucio, additional, La Briola, Francesca, additional, Orcesi, Simona, additional, Osanni, Elisa, additional, Parazzini, Cecilia, additional, Pinelli, Lorenzo, additional, Rebessi, Erika, additional, Romaniello, Romina, additional, Romeo, Antonino, additional, Spagnoli, Carlotta, additional, Uebler, Christian, additional, Varesio, Costanza, additional, Viri, Maurizio, additional, Zucca, Claudio, additional, Pichiecchio, Anna, additional, and Veggiotti, Pierangelo, additional

Published
2022
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33. Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients

Author

Verrotti, Alberto, Cusmai, Raffaella, Darra, Francesca, Martelli, Paola, Accorsi, Patrizia, Bergamo, Silvia, Bevivino, Elsa, Coppola, Giangennaro, Freri, Elena, Grosso, Salvatore, Matricardi, Sara, Parisi, Pasquale, Sartori, Stefano, Spalice, Alberto, Specchio, Nicola, Carelli, Alessia, Zini, Daniela, Bernardina, Bernardo Dalla, and Giordano, Lucio

Published
2014
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35. 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

36. Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy

Author

Gozzelino, Luca, primary, Kochlamazashvili, Gaga, additional, Baldassari, Sara, additional, Mackintosh, Albert Ian, additional, Licchetta, Laura, additional, Iovino, Emanuela, additional, Liu, Yu Chi, additional, Bennett, Caitlin A, additional, Bennett, Mark F, additional, Damiano, John A, additional, Zsurka, Gábor, additional, Marconi, Caterina, additional, Giangregorio, Tania, additional, Magini, Pamela, additional, Kuijpers, Marijn, additional, Maritzen, Tanja, additional, Norata, Giuseppe Danilo, additional, Baulac, Stéphanie, additional, Canafoglia, Laura, additional, Seri, Marco, additional, Tinuper, Paolo, additional, Scheffer, Ingrid E, additional, Bahlo, Melanie, additional, Berkovic, Samuel F, additional, Hildebrand, Michael S, additional, Kunz, Wolfram S, additional, Giordano, Lucio, additional, Bisulli, Francesca, additional, Martini, Miriam, additional, Haucke, Volker, additional, Hirsch, Emilio, additional, and Pippucci, Tommaso, additional

Published
2022
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37. Alterations in the α2δ ligand, thrombospondin‐1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Author

Santolini, Ines, Celli, Roberta, Cannella, Milena, Imbriglio, Tiziana, Guiducci, Michela, Parisi, Pasquale, Schubert, Julian, Iacomino, Michele, Zara, Federico, Lerche, Holger, Moyanova, Slavianka, Ngomba, Richard Teke, van Luijtelaar, Gilles, Battaglia, Giuseppe, Bruno, Valeria, Striano, Pasquale, Nicoletti, Ferdinando, Palotie, Aarno, Folkhälsan, Anna‐Elina Lehesjoki, Ruppert, Ann‐Kathrin, Siren, Auli, Koeleman, Bobby, Lal, Dennis, Becker, Felicitas, Caglayan, Hande, Hjalgrim, Helle, Muhle, Hiltrud, Thiele, Holger, Helbig, Ingo, Altmuller, Janine, Jabbari, Kamel, Everett, Kate, May, Patrick, Nurnberg, Peter, Møller, Rikke, Nabbout, Rima, Krause, Roland, Balling, Rudi, Baulac, Stephanie, Sander, Thomas, Kunz, Wolfram, Weber, Yvonne, Bianchi, Amedeo, La Neve, Angela, Coppola, Antonietta, Striano, Salvatore, Capovilla, Giuseppe, Ferlazzo, Edoardo, Bagnasco, Irene, Ferretti, Alessandro, Di Bonaventura, Carlo, Vari, Maria Stella, Pinto, Francesca, Bisulli, Francesca, Tinuper, Paolo, Minetti, Carlo, Belcastro, Vincenzo, Giordano, Lucio, and Gambardella, Antonio

Published
2017
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38. Repetitive and stereotyped behaviors in neurodevelopmental disorders: an observational analysis of four diagnostic groups

Author

Brunetti, Sara, Rossi, Andrea, Galli, Jessica, Gitti, Filippo, Nardocci, Nardo, Giordano, Lucio, Accorsi, Patrizia, Calza, Stefano, and Fazzi, Elisa

Subjects
Pediatrics, Perinatology and Child Health
Abstract

Repetitive and Stereotyped Behaviors (ST) are one of the key features of autism spectrum disorder (ASD) and they frequently occur in children with developmental delay/intellectual disability or sensory deprivation, but they are also described in children otherwise typical. This study aims to describe and compare ST in children with different neurodevelopmental disorders and in children having stereotypies but no other medical diagnosis (primary stereotypies).The study sample comprised children with autism spectrum disorder (ASD) developmental delay (DD), severe visual impairment (VI) and primary stereotypies (PS), aged between 2 and 12 years old. The characteristics of the ST (age of onset, frequency, duration, triggers, phenomenology) were collected from their clinical history. The children's caregivers completed the Repetitive Behavior Scalerevised (RBS-R) and the Child Behavior Checklist (CBCL) to assess the ST and to screen for behavioral problems, respectively. Data concerning family history and comorbidity were also collected.87 children (ASD [n=23]; DD [n=21]; VI [n=20]; PS [n=23]) were assessed. Mean age of ST onset was before 24 months in the whole sample. Symptoms usually occurred more than once a day in all groups, but Self-Injurious Behavior (SIB) and ST were reported at higher scores on the RBS-R in Secondary group. Stereotypies lasted less than 5 minutes in all but VI sample, in which lasted longer. Stereotypies of locomotion were mostly reported in ASD, self-injurious behaviors in VI, upper limb stereotypies in PS and DD. Parents reported several repetitive behaviors on the RBS-R, while attention deficit and withdrawn behavior appeared to be the main findings of the sample in the CBCL. Finally, a high number of comorbidities and family history for neurodevelopmental disorders was found in all groups.The study showed that some specific patterns of stereotypies could be identified in most groups of disorders. At the same time the behavioral profile of children with stereotypies shows a significant overlap among different groups. These preliminary results suggest that stereotypies are strongly linked to neurodevelopmental disorders, but their association needs to be clarified with further studies.

Published
2022

39. 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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40. Magnetic Resonance Biomarkers and Neurological Outcome of Infants with Mild Hypoxic-Ischaemic Encephalopathy Who Progress to Moderate Hypoxic-Ischaemic Encephalopathy.

Author

Montaldo, Paolo, Puzone, Simona, Caredda, Elisabetta, Galdo, Francesca, Pugliese, Umberto, Maietta, Anna, Ascione, Serena, Diplomatico, Mario, Spagnuolo, Ferdinando, Roma, Vincenzina, De Vivo, Massimiliano, Carpentieri, Mauro, Moschella, Sabino, Giordano, Lucio, D'Amico, Alessandra, Capristo, Carlo, Travan, Laura, Chello, Giovanni, Miraglia del Giudice, Emanuele, and Cirillo, Mario

Subjects
MAGNETIC resonance, INFANTS, BRAIN diseases, MAGNETIC resonance imaging, THERAPEUTIC hypothermia
Abstract

Background: There is increasing concern that infants with mild hypoxic-ischaemic encephalopathy (HIE) may develop seizures and progress to moderate HIE beyond the therapeutic window for cooling. Objective: The aim of this study was to examine the effect of therapeutic hypothermia on magnetic resonance imaging (MRI) biomarkers and neurological outcomes in infants with mild HIE and seizures within 24 h after birth. Methods: This study shows an observational cohort study on 366 (near)-term infants with mild HIE and normal amplitude-integrated electroencephalography background. Results: Forty-one infants showed progression (11.2%); 29/41 (70.7%) were cooled. Infants with progression showed cerebral metabolite perturbations and higher white matter injury scores compared to those without in both cooled and non-cooled groups (p = 0.001, p = 0.02). Abnormal outcomes were seen in 5/12 (42%) non-cooled and 7/29 (24%) cooled infants with progression (p = 0.26). Conclusions: Early biomarkers are needed to identify infants with mild HIE at risk of progression. Mild HIE infants with progression showed a higher incidence of brain injury and abnormal outcomes. [ABSTRACT FROM AUTHOR]

Published
2023
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41. Social attention and social-emotional modulation of attention in Angelman syndrome: an eye-tracking study.

Author

Micheletti, Serena, Vivanti, Giacomo, Renzetti, Stefano, Lanaro, Matteo Paolo, Martelli, Paola, Calza, Stefano, Social Attention in Angelman Study Group, Accorsi, Patrizia, Agostini, Stefania, Alessandrini, Anna, D'Adda, Nicole, Ferrari, Laura, Foresti, Valentina, Galli, Jessica, Giordano, Lucio, Marras, Melissa, Rizzi, Alessandro, and Fazzi, Elisa

Subjects
EYE tracking, ANGELMAN syndrome, MENTAL age, FACIAL expression, DISABILITIES, ATTENTION, CHILDREN with intellectual disabilities
Abstract

Individuals with Angelman syndrome (AS) present with severe intellectual disability alongside a social phenotype characterised by social communication difficulties and an increased drive for social engagement. As the social phenotype in this condition is poorly understood, we examined patterns of social attention and social modulation of attention in AS. Twenty-four individuals with AS and twenty-one young children with similar mental age were shown videos featuring unfamiliar actors who performed simple actions across two conditions: a playful condition, in which the actor showed positive facial emotions, and a neutral condition, in which the actor showed a neutral facial expression. During the passive observation of the videos, participants' proportion of time spent watching the two areas of interest (faces and actions) was examined using eye-tracking technology. We found that the playful condition elicited increased proportion of fixations duration to the actor's face compared to the neutral condition similarly across groups. Additionally, the proportion of fixations duration to the action area was similar across groups in the two conditions. However, children with AS looked towards the actor's face for a shorter duration compared to the comparison group across conditions. This pattern of similarities and differences provides novel insight on the complex social phenotype of children with AS. [ABSTRACT FROM AUTHOR]

Published
2023
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42. Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series

Author

Partemi, Sara, Vidal, Monica Coll, Striano, Pasquale, Campuzano, Oscar, Allegue, Catarina, Pezzella, Marianna, Elia, Maurizio, Parisi, Pasquale, Belcastro, Vincenzo, Casellato, Susanna, Giordano, Lucio, Mastrangelo, Massimo, Pietrafusa, Nicola, Striano, Salvatore, Zara, Federico, Bianchi, Amedeo, Buti, Daniela, La Neve, Angela, Tassinari, Carlo Alberto, Oliva, Antonio, and Brugada, Ramon

Published
2015
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43. Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Author

Romani, Marta, Mancini, Francesca, Micalizzi, Alessia, Poretti, Andrea, Miccinilli, Elide, Accorsi, Patrizia, Avola, Emanuela, Bertini, Enrico, Borgatti, Renato, Romaniello, Romina, Ceylaner, Serdar, Coppola, Giangennaro, D’Arrigo, Stefano, Giordano, Lucio, Janecke, Andreas R., Lituania, Mario, Ludwig, Kathrin, Martorell, Loreto, Mazza, Tommaso, Odent, Sylvie, Pinelli, Lorenzo, Poo, Pilar, Santucci, Margherita, Signorini, Sabrina, Simonati, Alessandro, Spiegel, Ronen, Stanzial, Franco, Steinlin, Maja, Tabarki, Brahim, Wolf, Nicole I., Zibordi, Federica, Boltshauser, Eugen, and Valente, Enza Maria

Published
2015
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44. 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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45. 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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46. Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis

Author

Righini Andrea, Scarabello Marco, Silvia Masnada, Fusco Carlo, Accorsi Patrizia, Orcesi Simona, Spagnoli Carlotta, Veggiotti Pierangelo, Izzo Giana, Fontanillas R L Miguel, Darra Francesca, Pinelli Lorenzo, Severino Mariasavina, Capra Valeria, Rebessi Erika, Giordano Lucio, Doneda Chiara, Cavallin Mara, Romeo Antonino, Formica Manuela, Pichiecchio Anna, De Giorgis Valentina, Accogli Andrea, Bahi-Buisson Nadia, Parazzini Cecilia, Dalla Bernardina Bernardo, and Fazzi Elisa

Subjects
Male, 0301 basic medicine, medicine.medical_specialty, Prenatal diagnosis, 030105 genetics & heredity, MRI features, Corpus callosum, Aicardi syndrome, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Prenatal Diagnosis, Humans, Medicine, Retrospective Studies, Neuroradiology, Coloboma, medicine.diagnostic_test, business.industry, Corpus Callosum Agenesis, Infant, Newborn, Magnetic resonance imaging, General Medicine, medicine.disease, Magnetic Resonance Imaging, Malformations of Cortical Development, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Radiology, Differential diagnosis, business, 030217 neurology & neurosurgery
Abstract

Objective This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis. Methods The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis–dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. For this purpose, Chi-square statistic and binary logistic regression analysis were performed. Results In all AIC cases, iuMRI was able to detect CC agenesis–dysgenesis and cortical development anomalies. Postnatal MRI revealed some additional findings mainly including further cystic lesions and in two cases small coloboma. A statistically significant difference between AIC and AIC mimicker were found regarding sex, nodular heterotopias, posterior fossa abnormalities, coloboma, and cortical gyration abnormalities. The most predictive variables in the logistic regression model were cortical gyration abnormalities, coloboma, and sex. Conclusion The iuMRI findings may suggest prenatal diagnosis of AIC syndrome with significant impact on parental counseling. Among possible differential diagnoses, tubulinopathies emerged.

Published
2020

47. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Author

Johannesen, Katrine Marie, Liu, Yuanyuan, Gjerulfsen, Catherine E., Koko, Mahmoud, Sonnenberg, Lukas, Schubert, Julian, Fenger, Christina Duhring, Eltokhi, Ahmed, Rannap, Maert, Koch, Nils, Lauxmann, Stephan, Krueger, Johanna, Kegele, Josua, Canafoglia, Laura, Franceschetti, Silvana, Mayer, Thomas, Rebstock, Johannes, Zacher, Pia, Ruf, Susanne, Alber, Michael, Sterbova, Katalin, Lassuthova, Petra, Vlckova, Marketa, Lemke, Johannes, Krey, Ilona, Heine, Constanze, Wieczorek, Dagmar, Kroell, Judith, Lund, Caroline, Klein, Karl Martin, Au, Py Billie, Rho, Jong, Ho, Alice, Masnada, Silvia, Veggiotti, Pierangelo, Giordano, Lucio, Accorsi, Patrizia, Hoi-Hansen, Christina, Striano, Pasquale, Zara, Federico, Verhelst, Helene, Verhoeven, Judith S., van der Zwaag, Bert, Harder, Aster, Brilstra, Eva, Pendziwiat, Manuela, Lebon, Sebastien, Vaccarezza, Maria, Le, Ngoc Minh, Christensen, Jakob, Schmidt-Petersen, Mette, Gronborg, Sabine, Scherer, Stephen, Howe, Jennifer, Fazeli, Walid, Howell, Katherine, Leventer, Richard, Stutterd, Chloe, Walsh, Sonja, Gerard, Marion, Gerard, Benedicte, Matricardi, Sara, Bonardi, Claudia M., Sartori, Stefano, Berger, Andrea, Hoffman-Zacharska, Dorota, Mastrangelo, Massimo, Darra, Francesca, Vollo, Arve, Motazacker, M. Mahdi, Lakeman, Phillis, Nizon, Mathilde, Betzler, Cornelia, Altuzarra, Cecilia, Caumes, Roseline, Roubertie, Agathe, Gelisse, Philippe, Marini, Carla, Guerrini, Renzo, Bilan, Frederic, Koch-Hogrebe, Margarete, Perry, Scott, Ichikawa, Shoji, Dadali, Elena, Sharkov, Artem, Mishina, Irina, Abramov, Mikhail, Kanivets, Ilya, Korostelev, Sergey, Kutsev, Sergey, Wain, Karen E., Eisenhauer, Nancy, Wagner, Monisa, Savatt, Juliann, Mueller-Schlueter, Karen, Bassan, Haim, Borovikov, Artem, Nassogne, Marie-Cecile, Destree, Anne, Schoonjans, An-Sofie, Meuwissen, Marije, Buzatu, Marga, Jansen, Anna, Scalais, Emmanuel, Srivastava, Siddarth, Tan, Wen-Hann, Olson, Heather, Loddenkemper, Tobias, Poduri, Annapurna, Helbig, Katherine L., Helbig, Ingo, Fitzgerald, Mark, Goldberg, Ethan M., Roser, Timo, Borggrafe, Ingo, Brunger, Tobias, May, Patrick, Lal, Dennis, Lederer, Damien, Rubboli, Guido, Lesca, Gaetan, Hedrich, Ulrike, Benda, Jan, Gardella, Elena, Lerche, Holger, and Moeller, Rikke Steensbjerre

Published
2021

48. 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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49. A clinical and genetic study of 33 new cases with early-onset absence epilepsy

Author

Giordano, Lucio, Vignoli, Aglaia, Accorsi, Patrizia, Galli, Jessica, Pezzella, Marianna, Traverso, Monica, Battaglia, Silvia, Baglietto, Maria Giuseppina, Beccaria, Francesca, Cerminara, Caterina, Gambara, Silvia, Del Giudice, Ennio, Crichiutti, Giovanni, Bisulli, Francesca, Pinci, Mariangela, Tinuper, Paolo, Briatore, Eleonora, Calzolari, Stefano, Coppola, Antonietta, Canevini, Maria Paola, Capovilla, Giuseppe, Striano, Salvatore, Zara, Federico, Minetti, Carlo, and Striano, Pasquale

Published
2011
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