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408 results on '"D’Arrigo, Stefano"'

2. Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders

Author

Cozzi, Marta, Magri, Stefania, Tedesco, Barbara, Patelli, Guglielmo, Ferrari, Veronica, Casarotto, Elena, Chierichetti, Marta, Pramaggiore, Paola, Cornaggia, Laura, Piccolella, Margherita, Galbiati, Mariarita, Rusmini, Paola, Crippa, Valeria, Mandrioli, Jessica, Pareyson, Davide, Pisciotta, Chiara, D’Arrigo, Stefano, Ratti, Antonia, Nanetti, Lorenzo, Mariotti, Caterina, Sarto, Elisa, Pensato, Viviana, Gellera, Cinzia, Di Bella, Daniela, Cristofani, Riccardo M., Taroni, Franco, and Poletti, Angelo

Published
2024
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3. Multimodal Motion Conditioned Diffusion Model for Skeleton-based Video Anomaly Detection

Author

Flaborea, Alessandro, Collorone, Luca, D'Amely, Guido, D'Arrigo, Stefano, Prenkaj, Bardh, and Galasso, Fabio

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Anomalies are rare and anomaly detection is often therefore framed as One-Class Classification (OCC), i.e. trained solely on normalcy. Leading OCC techniques constrain the latent representations of normal motions to limited volumes and detect as abnormal anything outside, which accounts satisfactorily for the openset'ness of anomalies. But normalcy shares the same openset'ness property since humans can perform the same action in several ways, which the leading techniques neglect. We propose a novel generative model for video anomaly detection (VAD), which assumes that both normality and abnormality are multimodal. We consider skeletal representations and leverage state-of-the-art diffusion probabilistic models to generate multimodal future human poses. We contribute a novel conditioning on the past motion of people and exploit the improved mode coverage capabilities of diffusion processes to generate different-but-plausible future motions. Upon the statistical aggregation of future modes, an anomaly is detected when the generated set of motions is not pertinent to the actual future. We validate our model on 4 established benchmarks: UBnormal, HR-UBnormal, HR-STC, and HR-Avenue, with extensive experiments surpassing state-of-the-art results., Comment: Accepted at ICCV2023

Published
2023

4. Contracting Skeletal Kinematics for Human-Related Video Anomaly Detection

Author

Flaborea, Alessandro, D'Amely, Guido, D'Arrigo, Stefano, Sterpa, Marco Aurelio, Sampieri, Alessio, and Galasso, Fabio

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

Detecting the anomaly of human behavior is paramount to timely recognizing endangering situations, such as street fights or elderly falls. However, anomaly detection is complex since anomalous events are rare and because it is an open set recognition task, i.e., what is anomalous at inference has not been observed at training. We propose COSKAD, a novel model that encodes skeletal human motion by a graph convolutional network and learns to COntract SKeletal kinematic embeddings onto a latent hypersphere of minimum volume for Video Anomaly Detection. We propose three latent spaces: the commonly-adopted Euclidean and the novel spherical and hyperbolic. All variants outperform the state-of-the-art on the most recent UBnormal dataset, for which we contribute a human-related version with annotated skeletons. COSKAD sets a new state-of-the-art on the human-related versions of ShanghaiTech Campus and CUHK Avenue, with performance comparable to video-based methods. Source code and dataset will be released upon acceptance., Comment: Published in the Pattern Recognition Journal

Published
2023

6. CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder

Author

Annunziata, Silvia, Bulgheroni, Sara, D'Arrigo, Stefano, Esposito, Silvia, Taddei, Matilde, Saletti, Veronica, Alfei, Enrico, Sciacca, Francesca Luisa, Rizzo, Ambra, Pantaleoni, Chiara, and Riva, Daria

Abstract

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75 patients, 11 classified as pathogenic. The complex ASD subjects have higher frequency of pathogenic CNVs with a diagnostic yield of 12.8%. Familiality, cognitive and verbal abilities, severity of autistic symptoms, neuroimaging and neurophysiological findings are not related to genetic data. This study identifies loci of interest for ASD and highlights the importance of a careful phenotypic characterization, as complex ASD is related to higher rate of pathogenic CNVs.

Published
2023
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8. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Leonardi, Emanuela, Aspromonte, Maria Cristina, Drongitis, Denise, Bettella, Elisa, Verrillo, Lucia, Polli, Roberta, McEntagart, Meriel, Licchetta, Laura, Dilena, Robertino, D’Arrigo, Stefano, Ciaccio, Claudia, Esposito, Silvia, Leuzzi, Vincenzo, Torella, Annalaura, Baldo, Demetrio, Lonardo, Fortunato, Bonato, Giulia, Pellegrin, Serena, Stanzial, Franco, Posmyk, Renata, Kaczorowska, Ewa, Carecchio, Miryam, Gos, Monika, Rzońca-Niewczas, Sylwia, Miano, Maria Giuseppina, and Murgia, Alessandra

Published
2023
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10. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Nigro, Vincenzo, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Banfi, Sandro, Varavallo, Alessandra, Selicorni, Angelo, Mariani, Milena, Massimello, Marta, Daolio, Cecilia, Capra, Valeria, Accogli, Andrea, Scala, Marcello, Leuzzi, Vincenzo, Nardecchia, Francesca, Galosi, Serena, Mastrangelo, Mario, Milani, Donatella, Vitiello, Giuseppina, Piluso, Giulio, Romano, Corrado, Failla, Pinella, Greco, Donatella, Pantaleoni, Chiara, Ciaccio, Claudia, D’Arrigo, Stefano, Brunetti Pierri, Nicola, Parenti, Giancarlo, Coppola, Antonietta, Mattina, Teresa, Zollino, Marcella, Amenta, Simona, Tummolo, Albina, Santoro, Claudia, Grandone, Anna, De Brasi, Daniele, Varone, Antonio, Garavelli, Livia, Marini, Carla, Bigoni, Stefania, Piscopo, Carmelo, Trabacca, Antonio, De Rinaldis, Marta, Peron, Angela, Venditti, Rossella, Theodorou, Evangelos, Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, Al-Badri, Nour, High, Frances A., Shi, Jiahai, Putti, Elena, Ferrante, Luigi, Cetrangolo, Viviana, Walker, Melissa A., Tenconi, Romano, Iascone, Maria, Mei, Davide, Guerrini, Renzo, van der Smagt, Jasper, Kroes, Hester Y., van Gassen, Koen L.I., Bilal, Muhammad, Umair, Muhammad, Pingault, Veronica, Attie-Bitach, Tania, Amiel, Jeannine, Ejaz, Resham, Rodan, Lance, Agrawal, Pankaj B., Del Bene, Filippo, and Franco, Brunella

Published
2023
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11. Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Author

Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, and Durr, Alexandra

Published
2023
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13. Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Author

Isoldi, Sara, Di Nardo, Giovanni, Mallardo, Saverio, Parisi, Pasquale, Raucci, Umberto, Tambucci, Renato, Quitadamo, Paolo, Salvatore, Silvia, Felici, Enrico, Cisarò, Fabio, Pensabene, Licia, Banzato, Claudia, Strisciuglio, Caterina, Romano, Claudio, Fusco, Patrizia, Rigotti, Francesca, Sansotta, Naire, Caimmi, Silvia, Savasta, Salvatore, Zuin, Giovanna, Di Stefano, Marina, Provera, Silvia, Campanozzi, Angelo, Rossi, Paolo, Gatti, Simona, Corpino, Mara, Alvisi, Patrizia, Martelossi, Stefano, Suppiej, Agnese, Gandullia, Paolo, Verrotti, Alberto, Terrin, Gianluca, Pacenza, Caterina, Fornaroli, Fabiola, Comito, Donatella, D’Arrigo, Stefano, Striano, Pasquale, Raviglione, Federico, Carotenuto, Marco, Orsini, Alessandro, Belcastro, Vincenzo, Di Corcia, Giovanna, Raieli, Vincenzo, Ferilli, Michela Ada Noris, Ruscitto, Claudia, Spadoni, Elisabetta, Grosso, Salvatore, D’Alonzo, Renato, Papa, Amanda, Pavone, Piero, Meli, Mariaclaudia, Velardita, Mario, Mainetti, Martina, Vanacore, Nicola, and Borrelli, Osvaldo

Published
2022
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14. Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder.

Author

De Laurentiis, Arianna, Pastori, Chiara, Pinto, Carmela, D'Arrigo, Stefano, Estienne, Margherita, Bulgheroni, Sara, Battaglia, Giulia, and Gemma, Marco

Subjects
CHILDREN with autism spectrum disorders, AUTISM spectrum disorders, CHILD patients, ANTIPSYCHOTIC agents, LOGISTIC regression analysis
Abstract

Introduction: The aim of the study was to assess the efficacy of In-Dex sedation in comparison to oral melatonin and hydroxyzine in individuals with Autism Spectrum Disorder (ASD) undergoing EEG recording and 15 determine which categories of patients exhibit the most favorable response to In-Dex sedation. Methods: This retrospective observational study involved pediatric patients with ASD who underwent sleep-EEG recording across two periods, before (biennium 2018-19) and after (biennium 2021-22) the routine implementation of In-Dex sedation. Clinical, EEG, and sedation data were stored in a database. A logistic multiple regression model was employed, with the failure of EEG serving as the dependent variable. Results: In the first period 203 EEGs were performed with a rate of failure of 10.8%, while in the second one 177 EEGs were recorded with a percentage of failure of 7.3% (8.3% with MH 23 sedation and 5.8% with In-Dex sedation). No significant adverse events were reported in either period. Multivariate logistic analysis demonstrated that In-Dex decreased the probability of failure (OR=0.25, 25 (0.61-0.88)), while the presence of behavioral disturbances (OR=3.65((1.54-8.85)) and the use of antipsychotic drugs (OR=2.76, (1.09-6.95)) increased it. Discussion: In the light of these results, we can state that In-Dex sedation is safe and reduce EEG failure rate compared to the use of melatonin and hydroxyzine alone, particularly in patients with severe behavioral issues. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

Author

Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D’Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D’Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, and Rosati, Jessica

Published
2022
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17. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Author

Raviglione, Federico, Douzgou, Sofia, Scala, Marcello, Mingarelli, Alessia, D'Arrigo, Stefano, Freri, Elena, Darra, Francesca, Giglio, Sabrina, Bonaglia, Maria C, Pantaleoni, Chiara, Mastrangelo, Massimo, Epifanio, Roberta, Elia, Maurizio, Saletti, Veronica, Morlino, Silvia, Vari, Maria Stella, De Liso, Paola, Pavaine, Julija, Spaccini, Luigina, Cattaneo, Elisa, Gardella, Elena, Møller, Rikke S, Marchese, Francesca, Colonna, Clara, Gandioli, Claudia, Gobbi, Giuseppe, Ram, Dipak, Palumbo, Orazio, Carella, Massimo, Germano, Michele, Tonduti, Davide, De Angelis, Diego, Caputo, Davide, Bergonzini, Patrizia, Novara, Francesca, Zuffardi, Orsetta, Verrotti, Alberto, Orsini, Alessandro, Bonuccelli, Alice, De Muto, Maria Carmela, Trivisano, Marina, Vigevano, Federico, Granata, Tiziana, Bernardina, Bernardo Dalla, Tranchina, Antonia, and Striano, Pasquale

Published
2021
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18. Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant

Author

Torella, Annalaura, Cappuccio, Gerarda, Musacchia, Francesco, Mutarelli, Margherita, Carrella, Diego, Vitiello, Giuseppina, Parenti, Giancarlo, Capra, Valeria, Leuzzi, Vincenzo, Selicorni, Angelo, Maitz, Silvia, Brunetti-Pierri, Nicola, Banfi, Sandro, Zollino, Marcella, Montomoli, Martino, Milani, Donatella, Romano, Corrado, Tummolo, Albina, De Brasi, Daniele, Coppola, Antonietta, Santoro, Claudia, Ciaccio, Claudia, Duga, Valentina, Pantaleoni, Chiara, Esposito, Silvia, Moroni, Isabella, Pinelli, Michele, Castello, Raffaele, Nigro, Vincenzo, Chiapparini, Luisa, and D'Arrigo, Stefano

Published
2021
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22. Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

Author

Seaby, Eleanor G, primary, Godwin, Annie, additional, Clerc, Valentine, additional, Meyer-Dilhet, Geraldine, additional, Grand, Xavier, additional, Fletcher, Tia, additional, Monteiro, Laloe, additional, Carelli, Valerio, additional, Palombo, Flavia, additional, Seri, Marco, additional, Olivucci, Giulia, additional, Grippa, Mina, additional, Ciaccio, Claudia, additional, D'Arrigo, Stefano, additional, Iascone, Maria, additional, Bermudez, Marion, additional, Fischer, Jan, additional, Di Donato, Nataliya, additional, Leung, Marco L, additional, Koboldt, Daniel, additional, Myers, Cortlandt, additional, Bartholomew, Dennis, additional, Arnadottir, Gudny Anna, additional, Stefansson, Kari, additional, Sulem, Patrick, additional, Goldberg, Ethan M, additional, BRUEL, Ange-Line, additional, TRAN-MAU THEM, Frederic, additional, Willems, Marjolaine, additional, Bjornsson, Hans Tomas, additional, Hognason, Hakon Bjorn, additional, Thorolfsdottir, Eirny Tholl, additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Zampino, Giuseppe, additional, Onesimo, Roberta, additional, Lachlan, Katherine, additional, Goesswein, Sophie, additional, Baralle, Diana, additional, Rehm, Heidi L, additional, O'Donnell-Luria, Anne L, additional, Courchet, Julien, additional, Guille, Matt, additional, Bourgeois, Cyril, additional, and Ennis, Sarah, additional

Published
2023
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23. Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Author

Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., DʼArrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., and Bernard, Geneviève

Published
2019
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24. Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Author

Pascual, Patricia, primary, Tenorio-Castano, Jair, additional, Mignot, Cyril, additional, Afenjar, Alexandra, additional, Arias, Pedro, additional, Gallego-Zazo, Natalia, additional, Parra, Alejandro, additional, Miranda, Lucia, additional, Cazalla, Mario, additional, Silván, Cristina, additional, Heron, Delphine, additional, Keren, Boris, additional, Popa, Ioana, additional, Palomares, María, additional, Rikeros, Emi, additional, Ramos, Feliciano J., additional, Almoguera, Berta, additional, Ayuso, Carmen, additional, Swafiri, Saoud Tahsin, additional, Barbero, Ana Isabel Sánchez, additional, Srinivasan, Varunvenkat M., additional, Gowda, Vykuntaraju K., additional, Morleo, Manuela, additional, Nigro, Vicenzo, additional, D’Arrigo, Stefano, additional, Ciaccio, Claudia, additional, Martin Mesa, Carmen, additional, Paumard, Beatriz, additional, Guillen, Gema, additional, Anton, Ana Teresa Serrano, additional, Jimenez, Marta Domínguez, additional, Seidel, Veronica, additional, Suárez, Julia, additional, Cormier-Daire, Valerie, additional, Consortium, The SOGRI, additional, Nevado, Julián, additional, and Lapunzina, Pablo, additional

Published
2023
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25. Structural and connectivity parameters reveal compensation patterns in young patients with non-progressive and slow-progressive cerebellar ataxia

Author

Marchese, Silvia Maria, primary, Palesi, Fulvia, additional, Nigri, Anna, additional, Bruzzone, Maria Grazia, additional, Pantaleoni, Chiara, additional, Wheeler-Kingshott, Claudia Angela Michela Gandini, additional, D'Arrigo, Stefano, additional, D'Angelo, Egidio, additional, and Cavallari, Paolo, additional

Published
2023
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26. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

Author

Morleo, Manuela, primary, Venditti, Rossella, additional, Theodorou, Evangelos, additional, Briere, Lauren C., additional, Rosello, Marion, additional, Tirozzi, Alfonsina, additional, Tammaro, Roberta, additional, Al-Badri, Nour, additional, High, Frances A., additional, Shi, Jiahai, additional, Putti, Elena, additional, Ferrante, Luigi, additional, Cetrangolo, Viviana, additional, Torella, Annalaura, additional, Walker, Melissa A., additional, Tenconi, Romano, additional, Iascone, Maria, additional, Mei, Davide, additional, Guerrini, Renzo, additional, van der Smagt, Jasper, additional, Kroes, Hester Y., additional, van Gassen, Koen L.I., additional, Bilal, Muhammad, additional, Umair, Muhammad, additional, Pingault, Veronica, additional, Attie-Bitach, Tania, additional, Amiel, Jeannine, additional, Ejaz, Resham, additional, Rodan, Lance, additional, Zollino, Marcella, additional, Agrawal, Pankaj B., additional, Del Bene, Filippo, additional, Nigro, Vincenzo, additional, Sweetser, David A., additional, Franco, Brunella, additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Gahl, William A., additional, Glass, Ian, additional, Gochuico, Bernadette, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Grajewski, Alana, additional, Hadley, Don, additional, Hahn, Sihoun, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Karaviti, Lefkothea, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Kozuira, Mary, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Mulvihill, John, additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips III, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey Swerdzewski, Barbara N., additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Scott, C. Ron, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Xiao, Changrui, additional, Yamamoto, Shinya, additional, Yang, John, additional, Zhang, Zhe, additional, Zuchner, Stephan, additional, Morleo, Manuela, additional, Spampanato, Carmine, additional, Pinelli, Michele, additional, Banfi, Sandro, additional, Varavallo, Alessandra, additional, Selicorni, Angelo, additional, Mariani, Milena, additional, Massimello, Marta, additional, Daolio, Cecilia, additional, Capra, Valeria, additional, Accogli, Andrea, additional, Scala, Marcello, additional, Leuzzi, Vincenzo, additional, Nardecchia, Francesca, additional, Galosi, Serena, additional, Mastrangelo, Mario, additional, Milani, Donatella, additional, Vitiello, Giuseppina, additional, Piluso, Giulio, additional, Romano, Corrado, additional, Failla, Pinella, additional, Greco, Donatella, additional, Pantaleoni, Chiara, additional, Ciaccio, Claudia, additional, D’Arrigo, Stefano, additional, Brunetti Pierri, Nicola, additional, Parenti, Giancarlo, additional, Coppola, Antonietta, additional, Mattina, Teresa, additional, Amenta, Simona, additional, Tummolo, Albina, additional, Santoro, Claudia, additional, Grandone, Anna, additional, De Brasi, Daniele, additional, Varone, Antonio, additional, Garavelli, Livia, additional, Marini, Carla, additional, Bigoni, Stefania, additional, Piscopo, Carmelo, additional, Trabacca, Antonio, additional, De Rinaldis, Marta, additional, and Peron, Angela, additional

Published
2023
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29. Intellectual Disability

Author

D’Arrigo, Stefano, Alfei, Enrico, Pantaleoni, Chiara, Sghirlanzoni, Angelo, editor, Lauria, Giuseppe, editor, and Chiapparini, Luisa, editor

Published
2015
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30. Cognitive and Behavioral Outcome of Pediatric Low-Grade Central Nervous System Tumors Treated Only with Surgery: A Single Center Experience

Author

Taddei, Matilde, primary, Esposito, Silvia, additional, Marucci, Gianluca, additional, Erbetta, Alessandra, additional, Ferroli, Paolo, additional, Valentini, Laura Grazia, additional, Pantaleoni, Chiara, additional, D’Arrigo, Stefano, additional, Saletti, Veronica, additional, Pollo, Bianca, additional, Paterra, Rosina, additional, Riva, Daria, additional, and Bulgheroni, Sara, additional

Published
2023
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32. Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

Author

D’Abrusco, Fulvio, Serpieri, Valentina, Taccagni, Cecilia Maria, Garau, Jessica, Cattaneo, Luca, Boggioni, Monica, Gana, Simone, Battini, Roberta, Bertini, Enrico, Zanni, Ginevra, Boltshauser, Eugen, Borgatti, Renato, Romaniello, Romina, Signorini, Sabrina, Leuzzi, Vincenzo, Caputi, Caterina, Manti, Filippo, D’Arrigo, Stefano, De Laurentiis, Arianna, Graziano, Claudio, Lemke, Johannes R., Morelli, Federica, Petković Ramadža, Danijela, Sirchia, Fabio, Giorgio, Elisa, and Valente, Enza Maria

Abstract

Joubert syndrome (JS) is a genetically heterogeneous neurodevelopmental ciliopathy. Despite exome sequencing (ES), several patients remain undiagnosed. This study aims to increase the diagnostic yield by uncovering cryptic variants through targeted ES reanalysis. We first focused on 26 patients in whom ES only disclosed heterozygous pathogenic coding variants in a JS gene. We reanalyzed raw ES data searching for copy number variants (CNVs) and intronic variants affecting splicing. We validated CNVs through real-time PCR or chromosomal microarray, and splicing variants through RT-PCR or minigenes. Cryptic variants were then searched in additional 44 ES-negative JS individuals. We identified cryptic “second hits” in 14 of 26 children (54%) and biallelic cryptic variants in 3 of 44 (7%), reaching a definite diagnosis in 17 of 70 (overall diagnostic gain 24%). We show that CNVs and intronic splicing variants are a common mutational mechanism in JS; more importantly, we demonstrate that a significant proportion of such variants can be disclosed simply through a focused reanalysis of available ES data, with a significantly increase of the diagnostic yield especially among patients previously found to carry heterozygous coding variants in the KIAA0586, CC2D2Aand CPLANE1genes.

Published
2024
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34. Structural and connectivity parameters reveal spared connectivity in young patients with non-progressive compared to slow-progressive cerebellar ataxia.

Author

Marchese, Silvia Maria, Palesi, Fulvia, Nigri, Anna, Bruzzone, Maria Grazia, Pantaleoni, Chiara, Wheeler-Kingshott, Claudia A. M. Gandini, D'Arrigo, Stefano, D'Angelo, Egidio, and Cavallari, Paolo

Subjects
CEREBELLAR ataxia, BASAL ganglia, LARGE-scale brain networks, WHITE matter (Nerve tissue), GANGLIA
Abstract

Introduction: Within Pediatric Cerebellar Ataxias (PCAs), patients with nonprogressive ataxia (NonP) surprisingly show postural motor behavior comparable to that of healthy controls, differently to slow-progressive ataxia patients (SlowP). This difference may depend on the building of compensatory strategies of the intact areas in NonP brain network. Methods: Eleven PCAs patients were recruited: five with NonP and six with SlowP. We assessed volumetric and axonal bundles alterations with a multimodal approach to investigate whether eventual spared connectivity between basal ganglia and cerebellum explains the different postural motor behavior of NonP and SlowP patients. Results: Cerebellar lobules were smaller in SlowP patients. NonP patients showed a lower number of streamlines in the cerebello-thalamo-cortical tracts but a generalized higher integrity of white matter tracts connecting the cortex and the basal ganglia with the cerebellum. Discussion: This work reveals that the axonal bundles connecting the cerebellum with basal ganglia and cortex demonstrate a higher integrity in NonP patients. This evidence highlights the importance of the cerebellum-basal ganglia connectivity to explain the different postural motor behavior of NonP and SlowP patients and support the possible compensatory role of basal ganglia in patients with stable cerebellar malformation. [ABSTRACT FROM AUTHOR]

Published
2023
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35. Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

Author

Serpieri, Valentina, Mortarini, Giulia, Loucks, Hailey, Biagini, Tommaso, Micalizzi, Alessia, Palmieri, Ilaria, Dempsey, Jennifer C., D’Abrusco, Fulvio, Mazzotta, Concetta, Battini, Roberta, Bertini, Enrico Silvio, Boltshauser, Eugen, Borgatti, Renato, Brockmann, Knut, D’Arrigo, Stefano, Nardocci, Nardo, Fischetto, Rita, Agolini, Emanuele, Novelli, Antonio, and Romano, Alfonso

Abstract

Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ’molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases. Methods While most variants are novel or extremely rare, we report on 11 recurring variants in seven genes, including three known ’founder variants’ in the Ashkenazi Jewish, Hutterite and Finnish populations. We evaluated variant frequencies in ~550 European patients with JS and compared them with controls (>15 000 Italian plus gnomAD), and with an independent cohort of ~600 JS probands from the USA. Results All variants were markedly enriched in the European JS cohort compared with controls. When comparing allele frequencies in the two JS cohorts, the Ashkenazim founder variant (TMEM216 c.218G>T) was significantly enriched in American compared with European patients with JS, while MKS1 c.1476T>G was about 10 times more frequent among European JS. Frequencies of other variants were comparable in the two cohorts. Genotyping of several markers identified four novel European founder haplotypes. Two recurrent variants (MKS1 c.1476T>Gand KIAA0586 c.428delG), have been detected in homozygosity in unaffected individuals, suggesting they could act as hypomorphic variants. However, while fibroblasts from a MKS1 c.1476T>G healthy homozygote showed impaired ability to form primary cilia and mildly reduced ciliary length, ciliary parameters were normal in cells from a KIAA0586 c.428delG healthy homozygote. Conclusion This study contributes to understand the complex genetic landscape of JS, explain its variable prevalence in distinct geographical areas and characterise two recurrent hypomorphic variants. [ABSTRACT FROM AUTHOR]

Published
2023
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39. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Author

Romaniello, Romina, Arrigoni, Filippo, Panzeri, Elena, Poretti, Andrea, Micalizzi, Alessia, Citterio, Andrea, Bedeschi, Maria Francesca, Berardinelli, Angela, Cusmai, Raffaella, D’Arrigo, Stefano, Ferraris, Alessandro, Hackenberg, Annette, Kuechler, Alma, Mancardi, Margherita, Nuovo, Sara, Oehl-Jaschkowitz, Barbara, Rossi, Andrea, Signorini, Sabrina, Tüttelmann, Frank, Wahl, Dagmar, Hehr, Ute, Boltshauser, Eugen, Bassi, Maria Teresa, Valente, Enza Maria, and Borgatti, Renato

Published
2017
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40. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

Author

Leonardi, Emanuela, primary, Aspromonte, Maria Cristina, additional, Drongitis, Denise, additional, Bettella, Elisa, additional, Verrillo, Lucia, additional, Polli, Roberta, additional, McEntagart, Meriel, additional, Licchetta, Laura, additional, Dilena, Robertino, additional, D’Arrigo, Stefano, additional, Ciaccio, Claudia, additional, Esposito, Silvia, additional, Leuzzi, Vincenzo, additional, Torella, Annalaura, additional, Baldo, Demetrio, additional, Lonardo, Fortunato, additional, Bonato, Giulia, additional, Pellegrin, Serena, additional, Stanzial, Franco, additional, Posmyk, Renata, additional, Kaczorowska, Ewa, additional, Carecchio, Miryam, additional, Gos, Monika, additional, Rzońca-Niewczas, Sylwia, additional, Miano, Maria Giuseppina, additional, and Murgia, Alessandra, additional

Published
2022
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41. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy

Author

Lanzafame, Manuela, primary, Nardo, Tiziana, additional, Ricotti, Roberta, additional, Pantaleoni, Chiara, additional, D'Arrigo, Stefano, additional, Stanzial, Franco, additional, Benedicenti, Francesco, additional, Thomas, Mary A., additional, Stefanini, Miria, additional, Orioli, Donata, additional, and Botta, Elena, additional

Published
2022
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42. Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome

Author

Turco, Elisa Maria, primary, Giovenale, Angela Maria Giada, additional, Sireno, Laura, additional, Mazzoni, Martina, additional, Cammareri, Alessandra, additional, Marchioretti, Caterina, additional, Goracci, Laura, additional, Veroli, Alessandra Di, additional, D'Andrea, Daniel, additional, Marchesan, Elena, additional, Torres, Barbara, additional, Bernardini, Laura, additional, Magnifico, Mariachiara, additional, Paone, Alessio, additional, Rinaldo, Serena, additional, Monica, Matteo Della, additional, D'Arrigo, Stefano, additional, Postorivo, Diana, additional, Nardone, Anna Maria, additional, Zampino, Giuseppe, additional, Onesimo, Roberta, additional, Leoni, Chiara, additional, Caicci, Federico, additional, Raimondo, Domenico, additional, Binda, Elena, additional, Trobiani, Laura, additional, De Jaco, Antonella, additional, Tata, Ada Maria, additional, Ferrari, Daniela, additional, Cutruzzolà, Francesca, additional, Mazzoccoli, Gianluigi, additional, Ziviani, Elena, additional, Pennuto, Maria, additional, Vescovi, Angelo, additional, and Rosati, Jessica, additional

Published
2022
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45. Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective

Author

Romaniello, Romina, Gagliardi, Chiara, Desalvo, Patrizia, Provenzi, Livio, Battini, Roberta, Bertini, Enrico Silvio, Bonati, Maria Teresa, Briguglio, Marilena, D'Arrigo, Stefano, Dotti, Maria Teresa, Giordano, Lucio, Macaluso, Claudio, Moroni, Isabella, Nuovo, Sara, Santucci, Margherita, Signorini, Sabrina, Stanzial, Franco, Valente, Enza Maria, Borgatti, Renato, Gagliardi, Chiara (ORCID:0000-0001-9931-9879), Bertini, Enrico, Borgatti, Renato (ORCID:0000-0001-8165-4994), Romaniello, Romina, Gagliardi, Chiara, Desalvo, Patrizia, Provenzi, Livio, Battini, Roberta, Bertini, Enrico Silvio, Bonati, Maria Teresa, Briguglio, Marilena, D'Arrigo, Stefano, Dotti, Maria Teresa, Giordano, Lucio, Macaluso, Claudio, Moroni, Isabella, Nuovo, Sara, Santucci, Margherita, Signorini, Sabrina, Stanzial, Franco, Valente, Enza Maria, Borgatti, Renato, Gagliardi, Chiara (ORCID:0000-0001-9931-9879), Bertini, Enrico, and Borgatti, Renato (ORCID:0000-0001-8165-4994)

Abstract

Background: Joubert Syndrome (JS) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. the molar tooth sign) and variable organ involvement. The aim of the present study was to describe functional limitations and disabilities in a large sample of adult patients with a diagnosis of JS. Methods: We administered the International Classification of Functioning (ICF) checklist to thirty-six adult Italian patients with JS or their caregivers through telephone calls. Results: None-to-mild impairment was documented for basic cognitive and mental functions, whereas severe deficit emerged for higher-order skills and language. A mismatch between individuals' capacity for daily activity and social participation and the actual performance in these fields emerged, suggesting that adults with JS may greatly benefit from external support from the caring environment. Indeed, specific facilitators were highlighted, including communication technologies as well as family members, healthcare professionals and peers support. Mild-to-severe barriers have been identified by adult patients with JS in the domains of services, systems and policies. Conclusions: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATIONChildren with Joubert Syndrome, a child-onset rare inherited neurodevelopmental condition, are growing up and becoming adults; a life course approach in rehabilitation is needed;There is a substantial lack of information on the long-term adaptive daily functioning of children with a diagnosis of Joubert Syndrome;In this paper, the International Classification of Functioning (ICF) was applied to assess the daily functioning in people with JS;Severe deficits emerged for high-order skills and language, wherea

Published
2022

46. Expanding the natural history of CASK‐related disorders to the prenatal period.

Author

Gafner, Michal, Boltshauser, Eugen, D'Abrusco, Fulvio, Battini, Roberta, Romaniello, Romina, D'Arrigo, Stefano, Zanni, Ginevra, Leibovitz, Zvi, Yosovich, Keren, Lerman‐Sagie, Tally, Buchignani, Bianca, Gindes, Liat, Lev, Dorit, Shariv, Avi, Schreiber, Letizia, Ciaccio, Claudia, Cerovac, Natasa, Brankovic, Vesna, Valente, Enza Maria, and Bertini, Enrico Silvio

Subjects
NATURAL history, CENTRAL nervous system, PROTEIN kinases, GESTATIONAL age, STANDARD deviations
Abstract

Aim: To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin‐dependent serine protein kinase (CASK) gene disorders. Method: In this international multicentre retrospective study, we contacted a CASK parents' social media group and colleagues with expertise in cerebellar malformations and asked them to supply clinical and imaging information. Centiles and standard deviations (SD) were calculated according to age by nomograms. Results: The study consisted of 49 patients (44 females and 5 males). Information regarding prenatal head circumference was available in 19 patients; 11 out of 19 had a fetal head circumference below –2SD (range −4.1SD to −2.02SD, mean gestational age at diagnosis 20 weeks). Progressive prenatal deceleration of head circumference growth rate was observed in 15 out of 19. At birth, 20 out of 42 had a head circumference below –2SD. A total of 6 out of 15 fetuses had a TCD z‐score below –2 (range −5.88 to −2.02). Interpretation: This study expands the natural history of CASK‐related disorders to the prenatal period, showing evidence of progressive deceleration of head circumference growth rate, head circumference below –2SD, or small TCD. Most cases will not be diagnosed according to current recommendations for fetal central nervous system routine assessment. Consecutive measurements and genetic studies are advised in the presence of progressive deceleration of head circumference growth rates or small TCD. What this paper adds: Progressive deceleration of fetal head circumference growth rate can be observed.A small transcerebellar diameter is an additional important manifestation.Most cases will not be diagnosed according to current recommendations for fetal central nervous system routine assessment.Consecutive measurements are advised when measurements are within the low range of norm. [ABSTRACT FROM AUTHOR]

Published
2023
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47. 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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48. Biallelic variants inCENPFcausing a phenotype distinct from Strømme syndrome

Author

Cappuccio, Gerarda, primary, Brillante, Simona, additional, Tammaro, Roberta, additional, Pinelli, Michele, additional, De Bernardi, Margherita Lucia, additional, Gensini, Maria Grazia, additional, Bijlsma, Emilia K., additional, Koopmann, Tamara T., additional, Hoffer, Mariette J. V., additional, McDonald, Kimberly, additional, Hendon, Laura G., additional, Douzgou, Sofia, additional, Deshpande, Charulata, additional, D'Arrigo, Stefano, additional, Torella, Annalaura, additional, Nigro, Vincenzo, additional, Franco, Brunella, additional, and Brunetti‐Pierri, Nicola, additional

Published
2022
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49. Additional file 6 of Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Author

Isoldi, Sara, Di Nardo, Giovanni, Mallardo, Saverio, Parisi, Pasquale, Raucci, Umberto, Tambucci, Renato, Quitadamo, Paolo, Salvatore, Silvia, Felici, Enrico, Cisarò, Fabio, Pensabene, Licia, Banzato, Claudia, Strisciuglio, Caterina, Romano, Claudio, Fusco, Patrizia, Rigotti, Francesca, Sansotta, Naire, Caimmi, Silvia, Savasta, Salvatore, Zuin, Giovanna, Di Stefano, Marina, Provera, Silvia, Campanozzi, Angelo, Rossi, Paolo, Gatti, Simona, Corpino, Mara, Alvisi, Patrizia, Martelossi, Stefano, Suppiej, Agnese, Gandullia, Paolo, Verrotti, Alberto, Terrin, Gianluca, Pacenza, Caterina, Fornaroli, Fabiola, Comito, Donatella, D’Arrigo, Stefano, Striano, Pasquale, Raviglione, Federico, Carotenuto, Marco, Orsini, Alessandro, Belcastro, Vincenzo, Di Corcia, Giovanna, Raieli, Vincenzo, Ferilli, Michela Ada Noris, Ruscitto, Claudia, Spadoni, Elisabetta, Grosso, Salvatore, D’Alonzo, Renato, Papa, Amanda, Pavone, Piero, Meli, Mariaclaudia, Velardita, Mario, Mainetti, Martina, Vanacore, Nicola, and Borrelli, Osvaldo

Abstract

Additional file 6: Supplementary Table 6. Screening tests performed among patients with cyclic vomiting syndrome according to specific outpatient clinic.

Published
2022
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50. Additional file 4 of Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

Author

Isoldi, Sara, Di Nardo, Giovanni, Mallardo, Saverio, Parisi, Pasquale, Raucci, Umberto, Tambucci, Renato, Quitadamo, Paolo, Salvatore, Silvia, Felici, Enrico, Cisarò, Fabio, Pensabene, Licia, Banzato, Claudia, Strisciuglio, Caterina, Romano, Claudio, Fusco, Patrizia, Rigotti, Francesca, Sansotta, Naire, Caimmi, Silvia, Savasta, Salvatore, Zuin, Giovanna, Di Stefano, Marina, Provera, Silvia, Campanozzi, Angelo, Rossi, Paolo, Gatti, Simona, Corpino, Mara, Alvisi, Patrizia, Martelossi, Stefano, Suppiej, Agnese, Gandullia, Paolo, Verrotti, Alberto, Terrin, Gianluca, Pacenza, Caterina, Fornaroli, Fabiola, Comito, Donatella, D’Arrigo, Stefano, Striano, Pasquale, Raviglione, Federico, Carotenuto, Marco, Orsini, Alessandro, Belcastro, Vincenzo, Di Corcia, Giovanna, Raieli, Vincenzo, Ferilli, Michela Ada Noris, Ruscitto, Claudia, Spadoni, Elisabetta, Grosso, Salvatore, D’Alonzo, Renato, Papa, Amanda, Pavone, Piero, Meli, Mariaclaudia, Velardita, Mario, Mainetti, Martina, Vanacore, Nicola, and Borrelli, Osvaldo

Abstract

Additional file 4: Supplementary Table 4. Family history of diseases detected among patients with cyclic vomiting syndrome according to specific outpatient clinic.

Published
2022
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