19 results on '"Cordelli, Duccio Maria"'
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2. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
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Dell’Isola, Giovanni Battista, Antonella, Fattorusso, Francesco, Pisani, Mario, Mastrangelo, Cordelli, Duccio Maria, Piero, Pavone, Pasquale, Parisi, Alessandro, Ferretti, Operto, Francesca Felicia, Maurizio, Elia, Marco, Carotenuto, Dario, Pruna, Sara, Matricardi, Elisabetta, Spezia, Alberto, Spalice, Giovanna, Scorrano, Savasta, Salvatore, Paolo, Prontera, Di Cara, Giuseppe, Fruttini, Daniela, Vincenzo, Salpietro, Pasquale, Striano, and Alberto, Verrotti
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- 2024
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3. Diverse faces of GNAO1: mild forms in epilepsy and autism
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Ludlam, William Grant, Soliani, Luca, Domínguez-Carral, Jana, Cordelli, Duccio Maria, Marchiani, Valentina, Gorría-Redondo, Nerea, Aguilera-Albesa, Sergio, Martemyanov, Kirill A., and Ortigoza-Escobar, Juan Darío
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- 2024
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4. Identification of the DNA methylation signature of Mowat-Wilson syndrome
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Caraffi, Stefano Giuseppe, van der Laan, Liselot, Rooney, Kathleen, Trajkova, Slavica, Zuntini, Roberta, Relator, Raissa, Haghshenas, Sadegheh, Levy, Michael A., Baldo, Chiara, Mandrile, Giorgia, Lauzon, Carolyn, Cordelli, Duccio Maria, Ivanovski, Ivan, Fetta, Anna, Sukarova, Elena, Brusco, Alfredo, Pavinato, Lisa, Pullano, Verdiana, Zollino, Marcella, McConkey, Haley, Tartaglia, Marco, Ferrero, Giovanni Battista, Sadikovic, Bekim, and Garavelli, Livia
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- 2024
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5. Epilepsy after acute central nervous system complications of pediatric hematopoietic cell transplantation: A retrospective, multicenter study
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Bergonzini, Luca, Leardini, Davide, Rao, Roberta, Foiadelli, Thomas, Faraci, Maura, Mancardi, Maria Margherita, Nobile, Giulia, Orsini, Alessandro, Savasta, Salvatore, Gottardi, Francesca, Fetta, Anna, Mina, Tommaso, Casazza, Gabriella, Menconi, Maria Cristina, Pruna, Dario, Mura, Rosa Maria, Piroddi, Antonio, Rucci, Paola, Masetti, Riccardo, and Cordelli, Duccio Maria
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- 2024
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6. Management, treatment, and clinical approach of Sydenham's chorea in children: Italian survey on expert-based experience
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Orsini, Alessandro, Santangelo, Andrea, Costagliola, Giorgio, Scacciati, Massimo, Massart, Francesco, Operto, Francesca Felicia, D'Elios, Sofia, Consolini, Rita, De Benedetti, Fabrizio, Maggio, Maria Cristina, Miniaci, Angela, Ferretti, Alessandro, Cordelli, Duccio Maria, Battini, Roberta, Bonuccelli, Alice, Savasta, Salvatore, Parisi, Pasquale, Fazzi, Elisa, Ruggieri, Martino, Striano, Pasquale, Peroni, Diego Giampietro, and Foiadelli, Thomas
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- 2024
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7. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls
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Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian and Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco
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thrombosis ,stroke ,children ,pediatric ,registry ,thromboembolism ,Pediatrics ,RJ1-570 - Published
- 2024
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8. Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
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Manzoni, Eleonora, primary, Carli, Sara, additional, Gaignard, Pauline, additional, Schlieben, Lea Dewi, additional, Hirano, Michio, additional, Ronchi, Dario, additional, Gonzales, Emmanuel, additional, Shimura, Masaru, additional, Murayama, Kei, additional, Okazaki, Yasushi, additional, Barić, Ivo, additional, Petkovic Ramadza, Danijela, additional, Karall, Daniela, additional, Mayr, Johannes, additional, Martinelli, Diego, additional, La Morgia, Chiara, additional, Primiano, Guido, additional, Santer, René, additional, Servidei, Serenella, additional, Bris, Céline, additional, Cano, Aline, additional, Furlan, Francesca, additional, Gasperini, Serena, additional, Laborde, Nolwenn, additional, Lamperti, Costanza, additional, Lenz, Dominic, additional, Mancuso, Michelangelo, additional, Montano, Vincenzo, additional, Menni, Francesca, additional, Musumeci, Olimpia, additional, Nesbitt, Victoria, additional, Procopio, Elena, additional, Rouzier, Cécile, additional, Staufner, Christian, additional, Taanman, Jan-Willem, additional, Tal, Galit, additional, Ticci, Chiara, additional, Cordelli, Duccio Maria, additional, Carelli, Valerio, additional, Procaccio, Vincent, additional, Prokisch, Holger, additional, and Garone, Caterina, additional
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- 2024
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9. CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.
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Dell'Isola, Giovanni Battista, Antonella, Fattorusso, Francesco, Pisani, Mario, Mastrangelo, Cordelli, Duccio Maria, Piero, Pavone, Pasquale, Parisi, Alessandro, Ferretti, Operto, Francesca Felicia, Maurizio, Elia, Marco, Carotenuto, Dario, Pruna, Sara, Matricardi, Elisabetta, Spezia, Alberto, Spalice, Giovanna, Scorrano, Savasta, Salvatore, Paolo, Prontera, Di Cara, Giuseppe, and Fruttini, Daniela
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PEDIATRIC neurology ,PROGNOSIS ,CORTICAL blindness ,VALPROIC acid ,MOVEMENT disorders ,LENNOX-Gastaut syndrome - Abstract
CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine–threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000–60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development. This Italian multi-center observational study focused on 34 patients with CDKL5-related epileptic encephalopathy, aiming to enhance the understanding of the clinical and molecular aspects of CDD. The study, conducted across 14 pediatric neurology tertiary care centers in Italy, covered various aspects, including phenotypic presentations, seizure types, EEG patterns, treatments, neuroimaging findings, severity of psychomotor delay, and variant-phenotype correlations. The results highlighted the heterogeneity of seizure patterns, with hypermotor-tonic-spasms sequence seizures (HTSS) noted in 17.6% of patients. The study revealed a lack of clear genotype–phenotype correlation within the cohort. The presence of HTSS or HTSS-like at onset resulted a negative prognostic factor for the presence of daily seizures at long-term follow-up in CDD patients. Despite extensive polypharmacotherapy, including medications such as valproic acid, clobazam, cannabidiol, and others, sustained seizure freedom proved elusive, affirming the inherent drug-resistant nature of CDD. The findings underscored the need for further research to explore response rates to different treatments and the potential role of non-pharmacological interventions in managing this challenging disorder. [ABSTRACT FROM AUTHOR]
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- 2024
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10. Efficacy and Safety of Pulse Intravenous Methylprednisolone in Pediatric Epileptic Encephalopathies: Timing and Networks Consideration
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Russo, Angelo, primary, Mazzone, Serena, additional, Landolina, Laura, additional, Colucci, Roberta, additional, Baccari, Flavia, additional, Fetta, Anna, additional, Boni, Antonella, additional, and Cordelli, Duccio Maria, additional
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- 2024
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11. Olfactory bulb anomalies in KBG syndrome mouse model and patients
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Goodkey, Kara, primary, Wischmeijer, Anita, additional, Perrin, Laurence, additional, Watson, Adrianne E. S., additional, Qureshi, Leenah, additional, Cordelli, Duccio Maria, additional, Toni, Francesco, additional, Gnazzo, Maria, additional, Benedicenti, Francesco, additional, Elmaleh-Bergès, Monique, additional, Low, Karen J., additional, and Voronova, Anastassia, additional
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- 2024
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12. Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus
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Spagnoli, Carlotta, primary, Battini, Roberta, additional, Manti, Filippo, additional, Cordelli, Duccio Maria, additional, Pession, Andrea, additional, Bellini, Melissa, additional, Bordugo, Andrea, additional, Cantalupo, Gaetano, additional, Riva, Antonella, additional, Striano, Pasquale, additional, Spada, Marco, additional, Porta, Francesco, additional, and Fusco, Carlo, additional
- Published
- 2024
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13. Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
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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
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- 2024
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14. Identification of the DNA methylation signature of Mowat-Wilson syndrome
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Caraffi, Stefano Giuseppe; https://orcid.org/0000-0002-5033-7854, van der Laan, Liselot; https://orcid.org/0000-0002-7800-8665, Rooney, Kathleen; https://orcid.org/0000-0002-7871-8982, Trajkova, Slavica, Zuntini, Roberta, Relator, Raissa, Haghshenas, Sadegheh, Levy, Michael A, Baldo, Chiara, Mandrile, Giorgia; https://orcid.org/0000-0003-0849-2225, Lauzon, Carolyn, Cordelli, Duccio Maria, Ivanovski, Ivan; https://orcid.org/0000-0002-0113-783X, Fetta, Anna; https://orcid.org/0000-0003-0175-6486, Sukarova, Elena; https://orcid.org/0000-0001-9702-3994, Brusco, Alfredo; https://orcid.org/0000-0002-8318-7231, Pavinato, Lisa; https://orcid.org/0000-0002-7630-8365, Pullano, Verdiana; https://orcid.org/0000-0002-0409-9832, Zollino, Marcella; https://orcid.org/0000-0003-4871-9519, McConkey, Haley, Tartaglia, Marco; https://orcid.org/0000-0001-7736-9672, Ferrero, Giovanni Battista; https://orcid.org/0000-0002-3793-5788, Sadikovic, Bekim; https://orcid.org/0000-0001-6363-0016, Garavelli, Livia; https://orcid.org/0000-0002-7684-3982, Caraffi, Stefano Giuseppe; https://orcid.org/0000-0002-5033-7854, van der Laan, Liselot; https://orcid.org/0000-0002-7800-8665, Rooney, Kathleen; https://orcid.org/0000-0002-7871-8982, Trajkova, Slavica, Zuntini, Roberta, Relator, Raissa, Haghshenas, Sadegheh, Levy, Michael A, Baldo, Chiara, Mandrile, Giorgia; https://orcid.org/0000-0003-0849-2225, Lauzon, Carolyn, Cordelli, Duccio Maria, Ivanovski, Ivan; https://orcid.org/0000-0002-0113-783X, Fetta, Anna; https://orcid.org/0000-0003-0175-6486, Sukarova, Elena; https://orcid.org/0000-0001-9702-3994, Brusco, Alfredo; https://orcid.org/0000-0002-8318-7231, Pavinato, Lisa; https://orcid.org/0000-0002-7630-8365, Pullano, Verdiana; https://orcid.org/0000-0002-0409-9832, Zollino, Marcella; https://orcid.org/0000-0003-4871-9519, McConkey, Haley, Tartaglia, Marco; https://orcid.org/0000-0001-7736-9672, Ferrero, Giovanni Battista; https://orcid.org/0000-0002-3793-5788, Sadikovic, Bekim; https://orcid.org/0000-0001-6363-0016, and Garavelli, Livia; https://orcid.org/0000-0002-7684-3982
- Abstract
Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is characterized by intellectual disability, epilepsy, typical facial phenotype and other anomalies, such as short stature, Hirschsprung disease, brain and heart defects. Despite some recognizable features, MOWS rarity and phenotypic variability may complicate its diagnosis, particularly in the neonatal period. In order to define a novel diagnostic biomarker for MOWS, we determined the genome-wide DNA methylation profile of DNA samples from 29 individuals with confirmed clinical and molecular diagnosis. Through multidimensional scaling and hierarchical clustering analysis, we identified and validated a DNA methylation signature involving 296 differentially methylated probes as part of the broader MOWS DNA methylation profile. The prevalence of hypomethylated CpG sites agrees with the main role of ZEB2 as a transcriptional repressor, while differential methylation within the ZEB2 locus supports the previously proposed autoregulation ability. Correlation studies compared the MOWS cohort with 56 previously described DNA methylation profiles of other neurodevelopmental disorders, further validating the specificity of this biomarker. In conclusion, MOWS DNA methylation signature is highly sensitive and reproducible, providing a useful tool to facilitate diagnosis.
- Published
- 2024
15. A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus
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Roberti, Roberta, primary, Riva, Antonella, additional, D’Onofrio, Gianluca, additional, Giacheri, Emanuele, additional, Amadori, Elisabetta, additional, Vari, Maria Stella, additional, La Neve, Angela, additional, Vigevano, Federico, additional, Verrotti, Alberto, additional, Cordelli, Duccio Maria, additional, Romeo, Antonino, additional, Palmieri, Antonella, additional, Mancardi, Maria Margherita, additional, Caglieris, Sergio, additional, Varone, Antonio, additional, Minetti, Carlo, additional, Russo, Emilio, additional, Buratti, Silvia, additional, and Striano, Pasquale, additional
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- 2024
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16. The involvement of the adrenergic system in feeding and eating disorders. A systematic review.
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Pruccoli, Jacopo, Parmeggiani, Antonia, Cordelli, Duccio Maria, and Lanari, Marcello
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EATING disorders ,INGESTION disorders ,ANOREXIA nervosa ,COMPULSIVE eating ,BINGE-eating disorder ,ADRENALINE - Abstract
Adrenergic dysregulation has been proposed as a possible underlying mechanism in feeding and eating disorders (FED). This review aims to synthesise the current evidence on the role of adrenergic dysregulation in the pathogenesis and management of FED. A systematic review was conducted in MEDLINE, Cochrane Library, and Clinicaltrials.gov. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) was adopted. Preclinical, clinical, and pharmacological studies assessing the adrenergic system in FED were included. Thirty-one out of 1415 recognised studies were included. Preclinically, studies on adrenaline's anorectic impact, receptor subtypes, and effects on hepatic function in rats show that catecholamine anorexia is primarily alpha-adrenergic, whereas beta-adrenergic anorexia can be obtained only after puberty, implying an impact of sexual hormones. Clinically, catecholamine levels may be higher in FED patients than in healthy controls (HC). Individuals with anorexia nervosa (AN) may show higher epinephrine-induced platelet aggregability response than HC. Pharmacological trials suggest that the alpha-2-adrenergic medication clonidine may not lower AN symptoms, but agents regulating the adrenaline–noradrenaline neurotransmission (bupropion, reboxetine, duloxetine, sibutramine) have been found to improve binge eating symptoms. Adrenergic dysregulation may be involved in the pathophysiology of FED. More research is needed to comprehend underlying mechanisms and treatment implications. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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17. COQ7defect causes prenatal onset of mitochondrial CoQ10deficiency with cardiomyopathy and gastrointestinal obstruction
- Author
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Pettenuzzo, Ilaria, Carli, Sara, Sánchez-Cuesta, Ana, Isidori, Federica, Montanari, Francesca, Grippa, Mina, Lanzoni, Giulia, Ambrosetti, Irene, Di Pisa, Veronica, Cordelli, Duccio Maria, Mondardini, Maria Cristina, Pippucci, Tommaso, Ragni, Luca, Cenacchi, Giovanna, Costa, Roberta, Lima, Mario, Capristo, Maria Antonietta, Tropeano, Concetta Valentina, Caporali, Leonardo, Carelli, Valerio, Brunelli, Elena, Maffei, Monica, Ahmed Sheikhmaye, Hodman, Fetta, Anna, Brea-Calvo, Gloria, and Garone, Caterina
- Abstract
COQ7pathogenetic variants cause primary CoQ10deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10supplementation. Here, we report novel compound heterozygous variants in the COQ7gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth retardation. Exome sequencing revealed compound heterozygous rare variants in the COQ7gene, c.613_617delGCCGGinsCAT (p.Ala205HisfsTer48) and c.403A>G (p.Met135Val). In silico analysis and functional in vitro studies confirmed the pathogenicity of the variants responsible for abolished activities of complexes I + III and II + III in muscle homogenate, severe decrease of CoQ10levels, and reduced basal and maximal respiration in patients’ fibroblasts. The first proband deceased at 14 months of age, whereas supplementation with a high dose of CoQ10(30 mg/kg/day) since the first days of life modified the clinical course in the second child, showing a recovery of milestones acquirement at the last follow-up (18 months of age). Our study expands the clinical spectrum of primary CoQ10deficiency due to COQ7gene defects and highlights the essential role of multidisciplinary and combined approaches for a timely diagnosis.
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- 2024
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18. Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
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Goodkey, Kara, Wischmeijer, Anita, Perrin, Laurence, Watson, Adrianne E. S., Qureshi, Leenah, Cordelli, Duccio Maria, Toni, Francesco, Gnazzo, Maria, Benedicenti, Francesco, Elmaleh‑Berges, Monique, Low, Karen J., and Voronova, Anastassia
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OLFACTORY bulb ,LABORATORY mice ,ANIMAL disease models ,SYNDROMES - Abstract
This correction notice addresses two minor typos in an original article titled "Olfactory bulb anomalies in KBG syndrome mouse model and patients." The first correction is to change '4%' to '4.9%' and '3.8%' to '3.9%' in a sentence regarding alterations to the sense of smell. The second correction is to change '29%' to '20%' in a sentence about the percentage of respondents who were unsure about the normalcy of their sense of smell. The correction notice is authored by Kara Goodkey, Anita Wischmeijer, Laurence Perrin, Adrianne E. S. Watson, Leenah Qureshi, Duccio Maria Cordelli, Francesco Toni, Maria Gnazzo, Francesco Benedicenti, Monique Elmaleh‑Berges, Karen J. Low, and Anastassia Voronova. [Extracted from the article]
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- 2024
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19. The Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study.
- Author
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Chiarello D, Perrone A, Ricci E, Ferrera G, Duranti F, Bonetti S, Marchiani V, Fetta A, Lanari M, and Cordelli DM
- Abstract
Introduction: Acute altered mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cannot always easily be inferred based on the patient's clinical presentation, medical history, or early examinations. The aim of this study is to evaluate the role of electroencephalogram (EEG) as a diagnostic tool in AAMS of unknown etiology in children., Materials and Methods: We conducted a prospective study involving EEG assessments on children presenting with AAMS between May 2017 and October 2019. Inclusion criteria were age 1 month to 18 years and acute (<1 week) and persistent (>5 minutes) altered mental status. Patients with a known etiology of AAMS were excluded. A literature review was also performed., Results: Twenty patients (median age: 7.7 years, range: 0.5-15.4) were enrolled. EEG contributed to the diagnosis in 14/20 cases, and was classified as diagnostic in 9/20 and informative in 5/20. Specifically, EEG was able to identify nonconvulsive status epilepticus (NCSE) in five children and psychogenic events in four. EEG proved to be a poorly informative diagnostic tool at AAMS onset in six children; however, in five of them, it proved useful during follow-up., Conclusions: Limited data exist regarding the role of EEG in children with AAMS of unknown etiology. In our population, EEG proved to be valuable tool, and was especially useful in the prompt identification of NCSE and psychogenic events., Competing Interests: None declared., (Thieme. All rights reserved.)
- Published
- 2024
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