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

Author

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

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Published
2024
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5. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

Author

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

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

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

Published
2023
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8. Occult Serious Bacterial Infections in Neonates and Infants Up to Three Months of Age with Bronchiolitis: Are Invasive Cultures Required?

Author

De Rose, Domenico Umberto, Cortazzo, Venere, Agosta, Marilena, Bernaschi, Paola, Ronchetti, Maria Paola, Di Maio, Velia Chiara, Di Pede, Alessandra, Rechichi, Jole, Braguglia, Annabella, Perno, Carlo Federico, and Dotta, Andrea

Subjects
RESPIRATORY syncytial virus infections, MICROBIOLOGICAL techniques, BACTERIAL diseases, CEREBROSPINAL fluid, LUMBAR puncture
Abstract

(1) Background: The literature reports a low risk of serious bacterial infections (SBIs) in febrile infants presenting with bronchiolitis or respiratory syncytial virus infection, but current microbiological techniques have a higher accuracy. (2) Methods: We assessed the risk of SBIs in neonates and infants with bronchiolitis from 2021 to 2023. We also evaluated C-reactive protein, procalcitonin, and leukocyte values. (3) Results: We included 242 infants. Blood cultures (BCs) were performed in 66/242 patients, with a positivity rate of 9.1% (including one BC with Staphylococcus hominis, considered as a contaminant). The cerebrospinal fluid culture was performed in 6/242 patients, and the results were all negative. Infection markers did not discriminate infants with positive BCs from those with negative ones. (4) Conclusions: Blood cultures should be performed in neonates and young infants with bronchiolitis fever, as the sepsis risk is not negligible. Conversely, our proposed algorithm is to wait for the respiratory panel results before decision-making for a lumbar puncture. Further studies are needed to understand lumbar puncture requirements. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Role of Brain Elastography in the Neonatal Setting: State of the Art of Ultrasonographic Techniques and Future Perspectives.

Author

Piersigilli, Fiammetta, Campi, Francesca, Savarese, Immacolata, Iacona, Giulia, Auriti, Cinzia, Dotta, Andrea, Braguglia, Annabella, Garcovich, Matteo, and Bersani, Iliana

Subjects
ULTRASONIC encephalography, PATIENT safety, MEDICAL technology, ELASTICITY, ULTRASONIC imaging, MAGNETIC resonance imaging, SENSITIVITY & specificity (Statistics), CHILDREN
Abstract

Magnetic resonance imaging is currently used in the neonatal setting for assessing features of the neonatal brain. However, its utilization is constrained by logistic, technical, or clinical challenges. Brain elastography is a new research technique which enhances the diagnostic capability of traditional imaging, and can be paired with both ultrasonography and magnetic resonance imaging. In particular, brain elastography adds objective and quantitative information to traditional imaging by detecting differences in tissue elasticity/stiffness, which may represent a surrogate marker of the physiologic and pathologic features of the neonatal brain. To date, very limited experience exists about the use of brain elastography specifically in the neonatal setting. The aim of the present review was to describe the most recent information about the feasibility and diagnostic accuracy of brain ultrasound elastography (USE) in neonates, and to provide information about the possible future applications and perspectives of brain elastography. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Elevated S100B urine levels predict seizures in infants complicated by perinatal asphyxia and undergoing therapeutic hypothermia

Author

Bersani, Iliana, primary, Lapergola, Giuseppe, additional, Patacchiola, Roberta, additional, D’Adamo, Ebe, additional, Stuppia, Liborio, additional, de Laurenzi, Vincenzo, additional, Damiani, Verena, additional, Cataldo, Ivana, additional, Clemente, Katia, additional, Primavera, Adele, additional, Salomone, Rita, additional, Barbante, Elisabetta, additional, Campi, Francesca, additional, Savarese, Immacolata, additional, Ronci, Sara, additional, Dotta, Andrea, additional, Braguglia, Annabella, additional, Longo, Daniela, additional, Gavilanes, Danilo A.W., additional, Gazzolo, Francesca, additional, Serpero, Laura, additional, Strozzi, Maria Chiara, additional, Maconi, Antonio, additional, Cassinari, Maurizio, additional, Libener, Roberta, additional, and Gazzolo, Diego, additional

Published
2024
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12. Are lung ultrasound features more severe in infants with bronchiolitis and coinfections?

Author

De Rose, Domenico Umberto, primary, Maddaloni, Chiara, additional, Martini, Ludovica, additional, Ronci, Sara, additional, Pugnaloni, Flaminia, additional, Marrocco, Gabriella, additional, Di Pede, Alessandra, additional, Di Maio, Velia Chiara, additional, Russo, Cristina, additional, Ronchetti, Maria Paola, additional, Perno, Carlo Federico, additional, Braguglia, Annabella, additional, Calzolari, Flaminia, additional, and Dotta, Andrea, additional

Published
2023
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13. Defining outcomes following congenital diaphragmatic hernia using standardised clinical assessment and management plan (SCAMP) methodology within the CDH EURO consortium

Author

IJsselstijn, Hanneke, Breatnach, Cormac, Hoskote, Aparna, Greenough, Anne, Patel, Neil, Capolupo, Irma, Morini, Francesco, Scharbatke, Horst, Kipfmueller, Florian, Ertresvag, Kjetil, Kraemer, Ulrike, Braguglia, Annabella, Wessel, Lucas, van Heijst, Arno F.J., Moinichen, Inger, Emblem, Raghnild, Tibboel, Dick, and on behalf of the CDH EURO Consortium Group

Published
2018
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14. Neurodevelopmental and genetic findings in neonates with intracranial arteriovenous shunts: A case series

Author

Campi, Francesca, primary, De Rose, Domenico Umberto, additional, Pugnaloni, Flaminia, additional, Ronci, Sara, additional, Calì, Monica, additional, Pro, Stefano, additional, Longo, Daniela, additional, Lucignani, Giulia, additional, Raho, Laura, additional, Pisaneschi, Elisa, additional, Digilio, Maria Cristina, additional, Savarese, Immacolata, additional, Bersani, Iliana, additional, Amante, Paolina Giuseppina, additional, Conti, Marta, additional, De Liso, Paola, additional, Capolupo, Irma, additional, Braguglia, Annabella, additional, Gandolfo, Carlo, additional, and Dotta, Andrea, additional

Published
2023
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17. Unsolved problems in CDH follow-up

Author

Valfré, Laura, primary, Conforti, Andrea, additional, Morini, Francesco, additional, Patel, Neil, additional, Bevilacqua, Francesca, additional, Cianci, Maria Chiara, additional, Bagolan, Pietro, additional, and Braguglia, Annabella, additional

Published
2022
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18. Lessons from SARS-CoV-2 Pandemics: How Restrictive Measures Impacted the Trend of Respiratory Infections in Neonates and Infants up to Three Months of Age

Author

De Rose, Domenico Umberto, primary, Caoci, Stefano, additional, Auriti, Cinzia, additional, Maddaloni, Chiara, additional, Capolupo, Irma, additional, Salvatori, Guglielmo, additional, Brusco, Carla, additional, Coltella, Luana, additional, Concato, Carlo, additional, Russo, Cristina, additional, Colagrossi, Luna, additional, Perno, Carlo Federico, additional, Braguglia, Annabella, additional, Villani, Alberto, additional, Dotta, Andrea, additional, and Raponi, Massimiliano, additional

Published
2022
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19. Early predictors of abnormal MRI patterns in asphyxiated infants: S100B protein urine levels

Author

Bersani, Iliana, primary, Gasparroni, Giorgia, additional, Bashir, Moataza, additional, Aboulgar, Hanna, additional, Mufeed, Hala, additional, Iskander, Iman, additional, Kornacka, Maria, additional, Gruzfeld, Darek, additional, Dotta, Andrea, additional, Campi, Francesca, additional, Longo, Daniela, additional, Savarese, Immacolata, additional, Braguglia, Annabella, additional, Tina, Lucia Gabriella, additional, Nigro, Francesco, additional, Serpero, Laura, additional, Strozzi, Maria Chiara, additional, Maconi, Antonio, additional, Ianniello, Patrizia, additional, Di Battista, Caterina, additional, D’Adamo, Ebe, additional, Gavilanes, Danilo, additional, and Gazzolo, Diego, additional

Published
2022
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24. Neurodevelopmental outcome in infants with esophageal atresia: risk factors in the first year of life

Author

Bagolan Pietro, Zaccara Antonio, Conforti Andrea, Braguglia Annabella, Gentile Simonetta, Ragni Benedetta, Aite Lucia, and Bevilacqua Francesca

Subjects
Longitudinal study, Pediatrics, medicine.medical_specialty, Birth weight, Developmental Disabilities, Bayley Scales of Infant Development, 03 medical and health sciences, 0302 clinical medicine, Child Development, Cognition, Risk Factors, 030225 pediatrics, medicine, Humans, Longitudinal Studies, Prospective Studies, Toddler, Child, Esophageal Atresia, Motor skill, business.industry, Gastroenterology, Gestational age, Infant, General Medicine, Low birth weight, Cohort, 030211 gastroenterology & hepatology, medicine.symptom, business
Abstract

Summary Data on neurodevelopmental outcomes of infants born with esophageal atresia (EA) are still scarce and controversial. The aims of our study were to evaluate motor and cognitive development during the first year of life, in patients operated on of EA and to investigate potential risk factors for motor and cognitive development both at 6 and 12 months. This is an observational prospective longitudinal study in a selected cohort of type C and D EA infants enrolled in our follow-up program from 2009 to 2017. In order to exclude possible confounding factors, the following exclusion criteria were applied: (i) gestational age ≤ 32 weeks and/or birth weight ≤ 1500 g; (ii) genetic syndrome or chromosomal anomaly known to be associated with neurodevelopmental delay; (iii) neurologic disease; (iv) esophageal gap ≥three vertebral bodies. Patients were evaluated at 6 and 12 months of life (corrected age for infants with a gestational age of 32–37 weeks) with the Bayley Scales of Infant and Toddler Development—3rd Edition. In our selected cohort of EA infants, 82 were evaluated at 6 months and 59 were reevaluated at 12 months. Both Motor and Cognitive average scores were within the norm at both time points. However, we report increased number of infants with motor delay with time: 14% at 6 months and 24% at 12 months. Multiple regression analysis for Motor scores at 6 [F(4,74) = 4.363, P = 0.003] and 12 months [F(6,50) = 2.634, P = 0.027] identified (i) low birth weight, (ii) longer hospital stay and (iii) weight Our selected cohort of EA patients shows, on the average, Motor and Cognitive scores within the norm both at 6 and 12 months. Nevertheless, the percentage of infants with Motor scores below the average increases regardless gestational age. None of clinical and sociodemographic variables taken into consideration was able to predict cognitive development both at 6 and 12 months whereas risk factors for Motor development change during the first year of life. Healthcare providers should pay particular attention to patients with low birth weight, longer hospital stays and weight under fifth percentile at 1 year. Future studies should include long-term outcomes to reveal possible catch up in motor development and/or possible findings in Cognitive scores.

Published
2020

29. Reshaping neonatal intensive care units (NICUs) to avoid the spread of severe acute respiratory coronavirus virus 2 (SARS-CoV-2) to high-risk infants

Author

De Rose, Domenico Umberto, primary, Auriti, Cinzia, additional, Landolfo, Francesca, additional, Capolupo, Irma, additional, Salvatori, Guglielmo, additional, Ranno, Stefania, additional, Concato, Carlo, additional, Braguglia, Annabella, additional, Bagolan, Pietro, additional, and Dotta, Andrea, additional

Published
2020
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33. Myocardial strain in newborn infants with tracheomalacia due to vascular rings, a pilot study.

Author

Massolo, Anna Claudia, Calzolari, Flaminia, Campanale, Marco Cosimo, Patel, Neil, Savignoni, Ferdinando, Dotta, Andrea, Braguglia, Annabella, Bagolan, Pietro, and Toscano, Alessandra

Subjects
NEWBORN infants, ECHOCARDIOGRAPHY, PULMONARY function tests, TRICUSPID valve insufficiency, RESPIRATORY obstructions, PULMONARY artery
Abstract

Vascular rings (VR) may cause severe tracheomalacia and upper airway obstruction (UAO). Increased pulmonary artery pressure and cardiac dysfunction have been described in patients with chronic UAO, but has not been investigated in infants with obstruction associated with VR. The aim of this study is to evaluate myocardial strain in infants with UAO due to VR. Demographic characteristics, respiratory symptoms, percentage of tracheal obstruction measured and classified using Computer Tomography, and lung function testing (LFT) were collected. Left (LV) and right ventricle (RV) systolic functions were measured using speckle tracking echocardiography longitudinal strain analysis (LS). Pulmonary artery pressure was evaluated using maximal tricuspid regurgitation jet velocity (TR) and LV end-systolic eccentricity index (EI). Fifteen cases were included in the study, six had mild tracheal obstruction (<50%), nine moderate-severe obstruction (≥50%). LV LS and RV LS were significantly reduced in cases with moderate to severe airway obstruction cases compared to those with mild airway obstruction (LV LS −15.9 versus −19.9%; RV LS −15.7 versus −20.5%, p =.04 and p =.02, respectively). Respiratory symptoms were more pronounced in moderate-severe cases. No significant differences in TR, EI, and LFT were observed. In cases of VR with severe tracheomalacia RV and LV myocardial strain is reduced, suggesting secondary cardiac dysfunction. [ABSTRACT FROM AUTHOR]

Published
2022
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38. Kabuki syndrome: clinical and molecular diagnosis in the first year of life

Author

Dentici, Maria Lisa, primary, Di Pede, Alessandra, additional, Lepri, Francesca Romana, additional, Gnazzo, Maria, additional, Lombardi, Mary Haywood, additional, Auriti, Cinzia, additional, Petrocchi, Stefano, additional, Pisaneschi, Elisa, additional, Bellacchio, Emanuele, additional, Capolino, Rossella, additional, Braguglia, Annabella, additional, Angioni, Adriano, additional, Dotta, Andrea, additional, Digilio, Maria Cristina, additional, and Dallapiccola, Bruno, additional

Published
2014
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43. Neurodevelopmental Outcome in High-Risk Congenital Diaphragmatic Hernia Patients: An Appeal for International Standardization.

Author

Snoek KG, Capolupo I, Braguglia A, Aite L, van Rosmalen J, Valfrè L, Wijnen RM, Bagolan P, Tibboel D, and IJsselstijn H

Subjects
Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Italy, Length of Stay statistics & numerical data, Linear Models, Male, Motor Activity, Multivariate Analysis, Netherlands, Prospective Studies, Psychiatric Status Rating Scales, Risk Factors, Social Class, Clinical Protocols standards, Cognition, Hernias, Diaphragmatic, Congenital complications, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders etiology
Abstract

Background: Since mortality in congenital diaphragmatic hernia (CDH) is decreasing, morbidity such as neurodevelopmental outcome is becoming increasingly important., Objectives: We evaluated neurodevelopmental outcome in high-risk CDH patients treated according to the CDH EURO Consortium standardized treatment protocol., Methods: This observational, prospective cohort study was conducted in two European centers. Neurodevelopment of 88 patients (Rotterdam n = 49; Rome n = 39) was assessed at 12 and 24 months with the Bayley Scales of Infant Development (BSID)-II-NL (Rotterdam) or BSID-III (Rome). Data of the centers were analyzed separately., Results: Cognition was normal in 77.8% of children from Rotterdam and in 94.8% from Rome at 12 months, and in 70.7 and 97.4%, respectively, at 24 months. Motor function was normal in 64.3% from Rotterdam and in 81.6% from Rome at 12 months and in 45.7 and 89.8%, respectively, at 24 months. Longer length of hospital stay (LoS) was associated with worse cognitive outcome and motor function; LoS, low socioeconomic status, and ethnicity were associated with lower cognition., Conclusions: At 2 years, most CDH patients have normal cognition, but are at risk for motor function delay. Due to differences in outcomes between centers, careful interpretation is needed before conclusions can be drawn for other centers. Future multicenter collaboration should not only focus on standardization of postnatal care, but also on international standardization of follow-up to identify risk factors and thereby reduce morbidity., (© 2015 S. Karger AG, Basel.)

Published
2016
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