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3. Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype

Author

Doddato, Gabriella, primary, Fabbiani, Alessandra, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Hadjistilianou, Theodora, additional, Landi, Martino, additional, Coradeschi, Caterina, additional, Grosso, Salvatore, additional, Tomasini, Barbara, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2023
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4. The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

Author

Gaggiano, Carla, primary, Vitale, Antonio, additional, Tufan, Abdurrahman, additional, Ragab, Gaafar, additional, Aragona, Emma, additional, Wiesik-Szewczyk, Ewa, additional, Ait-Idir, Djouher, additional, Conti, Giovanni, additional, Iezzi, Ludovica, additional, Maggio, Maria Cristina, additional, Cattalini, Marco, additional, Torre, Francesco La, additional, Lopalco, Giuseppe, additional, Verrecchia, Elena, additional, Paulis, Amato de, additional, Sahin, Ali, additional, Insalaco, Antonella, additional, Sfikakis, Petros P., additional, Marino, Achille, additional, Frassi, Micol, additional, Ogunjimi, Benson, additional, Opris-Belinski, Daniela, additional, Parronchi, Paola, additional, Emmi, Giacomo, additional, Shahram, Farhad, additional, Ciccia, Francesco, additional, Piga, Matteo, additional, Hernández-Rodríguez, José, additional, Pereira, Rosa Maria R., additional, Alessio, Maria, additional, Naddei, Roberta, additional, Olivieri, Alma Nunzia, additional, Giudice, Emanuela Del, additional, Sfriso, Paolo, additional, Ruscitti, Piero, additional, Gobbi, Francesca Li, additional, Kucuk, Hamit, additional, Sota, Jurgen, additional, Hussein, Mohamed A., additional, Malizia, Giuseppe, additional, Jahnz-Różyk, Karina, additional, Sari-Hamidou, Rawda, additional, Romeo, Mery, additional, Ricci, Francesca, additional, Cardinale, Fabio, additional, Iannone, Florenzo, additional, Casa, Francesca Della, additional, Natale, Marco Francesco, additional, Laskari, Katerina, additional, Giani, Teresa, additional, Franceschini, Franco, additional, Sabato, Vito, additional, Yildirim, Derya, additional, Caggiano, Valeria, additional, Hegazy, Mohamed Tharwat, additional, Marzo, Rosalba Di, additional, Kucharczyk, Aleksandra, additional, Khellaf, Ghalia, additional, Tarsia, Maria, additional, Almaghlouth, Ibrahim A., additional, Laymouna, Ahmed Hatem, additional, Mastrorilli, Violetta, additional, Dotta, Laura, additional, Benacquista, Luca, additional, Grosso, Salvatore, additional, Crisafulli, Francesca, additional, Parretti, Veronica, additional, Giordano, Heitor F., additional, Mahmoud, Ayman Abdel-Monem Ahmed, additional, Nuzzolese, Rossana, additional, Musso, Marta De, additional, Chighizola, Cecilia Beatrice, additional, Gentileschi, Stefano, additional, Morrone, Mirella, additional, Cola, Ilenia Di, additional, Spedicato, Veronica, additional, Giardini, Henrique A. Mayrink, additional, Vasi, Ibrahim, additional, Renieri, Alessandra, additional, Fabbiani, Alessandra, additional, Mencarelli, Maria Antonietta, additional, Frediani, Bruno, additional, Balistreri, Alberto, additional, Tosi, Gian Marco, additional, Fabiani, Claudia, additional, Lidar, Merav, additional, Rigante, Donato, additional, and Cantarini, Luca, additional

Published
2022
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5. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

Author

Pavinato, Lisa, primary, Delle Vedove, Andrea, additional, Carli, Diana, additional, Ferrero, Marta, additional, Carestiato, Silvia, additional, Howe, Jennifer L, additional, Agolini, Emanuele, additional, Coviello, Domenico A, additional, van de Laar, Ingrid, additional, Au, Ping Yee Billie, additional, Di Gregorio, Eleonora, additional, Fabbiani, Alessandra, additional, Croci, Susanna, additional, Mencarelli, Maria Antonietta, additional, Bruno, Lucia P, additional, Renieri, Alessandra, additional, Veltra, Danai, additional, Sofocleous, Christalena, additional, Faivre, Laurence, additional, Mazel, Benoit, additional, Safraou, Hana, additional, Denommé-Pichon, Anne-Sophie, additional, van Slegtenhorst, Marjon A, additional, Giesbertz, Noor, additional, van Jaarsveld, Richard H, additional, Childers, Anna, additional, Rogers, R Curtis, additional, Novelli, Antonio, additional, De Rubeis, Silvia, additional, Buxbaum, Joseph D, additional, Scherer, Stephen W, additional, Ferrero, Giovanni Battista, additional, Wirth, Brunhilde, additional, and Brusco, Alfredo, additional

Published
2022
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6. Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

Author

Vitale, Antonio, primary, Caggiano, Valeria, additional, Della Casa, Francesca, additional, Hernández-Rodríguez, José, additional, Frassi, Micol, additional, Monti, Sara, additional, Tufan, Abdurrahman, additional, Telesca, Salvatore, additional, Conticini, Edoardo, additional, Ragab, Gaafar, additional, Lopalco, Giuseppe, additional, Almaghlouth, Ibrahim, additional, Pereira, Rosa Maria R., additional, Yildirim, Derya, additional, Cattalini, Marco, additional, Marino, Achille, additional, Giani, Teresa, additional, La Torre, Francesco, additional, Ruscitti, Piero, additional, Aragona, Emma, additional, Wiesik-Szewczyk, Ewa, additional, Del Giudice, Emanuela, additional, Sfikakis, Petros P., additional, Govoni, Marcello, additional, Emmi, Giacomo, additional, Maggio, Maria Cristina, additional, Giacomelli, Roberto, additional, Ciccia, Francesco, additional, Conti, Giovanni, additional, Ait-Idir, Djouher, additional, Lomater, Claudia, additional, Sabato, Vito, additional, Piga, Matteo, additional, Sahin, Ali, additional, Opris-Belinski, Daniela, additional, Ionescu, Ruxandra, additional, Bartoloni, Elena, additional, Franceschini, Franco, additional, Parronchi, Paola, additional, de Paulis, Amato, additional, Espinosa, Gerard, additional, Maier, Armin, additional, Sebastiani, Gian Domenico, additional, Insalaco, Antonella, additional, Shahram, Farhad, additional, Sfriso, Paolo, additional, Minoia, Francesca, additional, Alessio, Maria, additional, Makowska, Joanna, additional, Hatemi, Gülen, additional, Akkoç, Nurullah, additional, Li Gobbi, Francesca, additional, Gidaro, Antonio, additional, Olivieri, Alma Nunzia, additional, Al-Mayouf, Sulaiman M., additional, Erten, Sükran, additional, Gentileschi, Stefano, additional, Vasi, Ibrahim, additional, Tarsia, Maria, additional, Mahmoud, Ayman Abdel-Monem Ahmed, additional, Frediani, Bruno, additional, Fares Alzahrani, Musa, additional, Laymouna, Ahmed Hatem, additional, Ricci, Francesca, additional, Cardinale, Fabio, additional, Jahnz-Rózyk, Karina, additional, Tosi, Gian Marco, additional, Crisafulli, Francesca, additional, Balistreri, Alberto, additional, Dagostin, Marília A., additional, Ghanema, Mahmoud, additional, Gaggiano, Carla, additional, Sota, Jurgen, additional, Di Cola, Ilenia, additional, Fabiani, Claudia, additional, Giardini, Henrique A. Mayrink, additional, Renieri, Alessandra, additional, Fabbiani, Alessandra, additional, Carrer, Anna, additional, Bocchia, Monica, additional, Caroni, Federico, additional, Rigante, Donato, additional, and Cantarini, Luca, additional

Published
2022
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8. Development and Implementation of the AIDA International Registry for Patients With Still's Disease

Author

Vitale, Antonio, primary, Della Casa, Francesca, additional, Lopalco, Giuseppe, additional, Pereira, Rosa Maria, additional, Ruscitti, Piero, additional, Giacomelli, Roberto, additional, Ragab, Gaafar, additional, La Torre, Francesco, additional, Bartoloni, Elena, additional, Del Giudice, Emanuela, additional, Lomater, Claudia, additional, Emmi, Giacomo, additional, Govoni, Marcello, additional, Maggio, Maria Cristina, additional, Maier, Armin, additional, Makowska, Joanna, additional, Ogunjimi, Benson, additional, Sfikakis, Petros P., additional, Sfriso, Paolo, additional, Gaggiano, Carla, additional, Iannone, Florenzo, additional, Dagostin, Marília A., additional, Di Cola, Ilenia, additional, Navarini, Luca, additional, Ahmed Mahmoud, Ayman Abdelmonem, additional, Cardinale, Fabio, additional, Riccucci, Ilenia, additional, Paroli, Maria Pia, additional, Marucco, Elena Maria, additional, Mattioli, Irene, additional, Sota, Jurgen, additional, Abbruzzese, Anna, additional, Antonelli, Isabele P. B., additional, Cipriani, Paola, additional, Tufan, Abdurrahman, additional, Fabiani, Claudia, additional, Ramadan, Mustafa Mahmoud, additional, Cattalini, Marco, additional, Kardas, Riza Can, additional, Sebastiani, Gian Domenico, additional, Giardini, Henrique A. Mayrink, additional, Hernández-Rodríguez, José, additional, Mastrorilli, Violetta, additional, Więsik-Szewczyk, Ewa, additional, Frassi, Micol, additional, Caggiano, Valeria, additional, Telesca, Salvatore, additional, Giordano, Heitor F., additional, Guadalupi, Emmanuele, additional, Giani, Teresa, additional, Renieri, Alessandra, additional, Colella, Sergio, additional, Cataldi, Giulia, additional, Gentile, Martina, additional, Fabbiani, Alessandra, additional, Al-Maghlouth, Ibrahim A., additional, Frediani, Bruno, additional, Balistreri, Alberto, additional, Rigante, Donato, additional, and Cantarini, Luca, additional

Published
2022
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9. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Author

Pavinato, Lisa, Vedove, Andrea Delle, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Gregorio, Eleonora Di, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, and Mazel, Benoit

Subjects
LANGUAGE disorders, ATTENTION-deficit hyperactivity disorder, NEURAL development, PLURIPOTENT stem cells, NEURAL circuitry
Abstract

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1 ; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated s CAPRIN1 +/− human induced pluripotent stem cells via CRISPR–Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1 +/− neurons, compatible with its suggested function as translational inhibitor. CAPRIN1 +/− neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1 +/− neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models. [ABSTRACT FROM AUTHOR]

Published
2023
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10. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

Author

Bruno, Lucia Pia, primary, Doddato, Gabriella, additional, Valentino, Floriana, additional, Baldassarri, Margherita, additional, Tita, Rossella, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Mari, Francesca, additional, Pinto, Anna Maria, additional, Fava, Francesca, additional, Fabbiani, Alessandra, additional, Lamacchia, Vittoria, additional, Carrer, Anna, additional, Caputo, Valentina, additional, Granata, Stefania, additional, Benetti, Elisa, additional, Zguro, Kristina, additional, Furini, Simone, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2021
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11. Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype

Author

Doddato, Gabriella, primary, Fabbiani, Alessandra, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Hadjistilianou, Theodora, additional, Landi, Martino, additional, Coradeschi, Caterina, additional, Grosso, Salvatore, additional, Tomasini, Barbara, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2021
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12. Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

Author

Valentino, Floriana, primary, Bruno, Lucia Pia, additional, Doddato, Gabriella, additional, Giliberti, Annarita, additional, Tita, Rossella, additional, Resciniti, Sara, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Mari, Francesca, additional, Pinto, Anna Maria, additional, Fava, Francesca, additional, Baldassarri, Margherita, additional, Fabbiani, Alessandra, additional, Lamacchia, Vittoria, additional, Benetti, Elisa, additional, Zguro, Kristina, additional, Furini, Simone, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2021
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13. SPTBN5 , Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.

Author

Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, and Khan, Shahid Niaz

Subjects
DEVELOPMENTAL delay, AUTISM spectrum disorders, GENETIC variation, NEUROLOGICAL disorders, SEIZURES (Medicine), INTELLECTUAL disabilities
Abstract

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2 , and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5 -associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5. [ABSTRACT FROM AUTHOR]

Published
2022
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14. Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network

Author

Gaggiano, Carla, primary, Rigante, Donato, additional, Hernández-Rodríguez, José, additional, Vitale, Antonio, additional, Tarsia, Maria, additional, Soriano, Alessandra, additional, Lopalco, Giuseppe, additional, Iannone, Florenzo, additional, Abdel Jaber, Masen, additional, Giacomelli, Roberto, additional, Wiȩsik-Szewczyk, Ewa, additional, Cattalini, Marco, additional, Frassi, Micol, additional, Piga, Matteo, additional, Ragab, Gaafar, additional, Sota, Jurgen, additional, Zunica, Fiammetta, additional, Floris, Alberto, additional, Sabato, Vito, additional, Hegazy, Mohamed Tharwat, additional, Araújo, Olga, additional, Pelegrín, Laura, additional, Fabbiani, Alessandra, additional, Renieri, Alessandra, additional, Grosso, Salvatore, additional, Fabiani, Claudia, additional, Frediani, Bruno, additional, and Cantarini, Luca, additional

Published
2021
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16. RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

Author

Gelli, Elisa, primary, Fallerini, Chiara, additional, Valentino, Floriana, additional, Giliberti, Annarita, additional, Castiglione, Francesca, additional, Laschi, Lucrezia, additional, Palmieri, Maria, additional, Fabbiani, Alessandra, additional, Tita, Rossella, additional, Mencarelli, Maria Antonietta, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2020
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17. Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients

Author

Palmieri, Maria, primary, Baldassarri, Margherita, additional, Fava, Francesca, additional, Fabbiani, Alessandra, additional, Gelli, Elisa, additional, Tita, Rossella, additional, Torre, Pamela, additional, Petrioli, Roberto, additional, Hadijstilianou, Theodora, additional, Galimberti, Daniela, additional, Cinotti, Elisa, additional, Bengala, Carmelo, additional, Mandalà, Marco, additional, Piu, Pietro, additional, Miano, Salvatora Tindara, additional, Martellucci, Ignazio, additional, Vannini, Agnese, additional, Pinto, Anna Maria, additional, Mencarelli, Maria Antonietta, additional, Marsili, Stefania, additional, Renieri, Alessandra, additional, and Frullanti, Elisa, additional

Published
2020
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18. Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases

Author

Gaggiano, Carla, primary, Rigante, Donato, additional, Vitale, Antonio, additional, Lucherini, Orso Maria, additional, Fabbiani, Alessandra, additional, Capozio, Giovanna, additional, Marzo, Chiara, additional, Gelardi, Viviana, additional, Grosso, Salvatore, additional, Frediani, Bruno, additional, Renieri, Alessandra, additional, and Cantarini, Luca, additional

Published
2019
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19. Whole Exome Sequencing in BRCA1-2 Candidate Families: The Contribution of Other Cancer Susceptibility Genes.

Author

Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Lo Rizzo, Caterina, Lamacchia, Vittoria, and Mannucci, Sara

Subjects
CANCER genes, CANCER susceptibility, GENETIC testing, OVARIAN cancer, BREAST cancer
Abstract

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the BRCA1-2 highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Whole Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in BRCA1-2 genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines. Analysis by MLPA was performed to detect large BRCA1-2 deletions/duplications. Focusing on BRCA1-2 genes, data analysis identified 11 cases with pathogenic variants (4 in BRCA1 and 7 in BRCA1-2) and 12 with uncertain variants (7 in BRCA1 and 5 in BRCA2). Only one case was found with a large BRCA1 deletion. Whole exome analysis allowed to characterize pathogenic variants in 21 additional genes: 10 genes more traditionally associated to breast and ovarian cancer (ATM , BRIP1 , CDH1 , PALB2 , PTEN , RAD51C , and TP53) (5% diagnostic yield) and 11 in candidate cancer susceptibility genes (DPYD , ERBB3 , ERCC2 , MUTYH , NQO2 , NTHL1 , PARK2 , RAD54L , and RNASEL). In conclusion, this study allowed a personalized risk assessment and clinical surveillance in an increased number of HBOC families and to broaden the spectrum of causative variants also to candidate "non-canonical" genes. [ABSTRACT FROM AUTHOR]

Published
2021
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20. Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis.

Author

Frullanti, Elisa, primary, Palmieri, Maria, additional, Baldassarri, Margherita, additional, Fava, Francesca, additional, Fabbiani, Alessandra, additional, Gelli, Elisa, additional, Tita, Rossella, additional, Torre, Pamela, additional, Petrioli, Roberto, additional, Hadijstilianou, Theodora, additional, Galimberti, Daniela, additional, Cinotti, Elisa, additional, Mencarelli, Maria Antonietta, additional, Pinto, Anna Maria, additional, Francini, Edoardo, additional, Marsili, Stafania, additional, Francini, Guido, additional, and Renieri, Alessandra, additional

Published
2019
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21. Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.

Author

Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Rizzo, Caterina Lo, Lamacchia, Vittoria, and Mannucci, Sara

Subjects
CANCER genes, CANCER susceptibility, CANCER genetics, MEDICAL genetics
Abstract

Keywords: BRCA1; BRCA2; cancer susceptibility genes; HBOC; ES (Exome Sequencing) EN BRCA1 BRCA2 cancer susceptibility genes HBOC ES (Exome Sequencing) 1 3 3 08/19/21 20210817 NES 210817 In the original article, there was an error. A correction has been made to B I Result i b : B I Pathogenic Variants in Canonical HBOC Genes i b B I Paragraph 1 i b : Beyond I BRCA1-2 i genes, ES data analysis revealed 10 pathogenic variants in 7 HBOC-related genes (canonical genes): I ATM, BRIP1, CDH1, PALB2, PTEN, RAD51C i , and I TP53 i . However, multigene panel allows a limited gene analysis while Exome Sequencing (ES) allows the simultaneous assessment of virtually an unlimited number of genes. [Extracted from the article]

Published
2021
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22. SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

Author

Amjad Khan, Lucia Pia Bruno, Fadhel Alomar, Muhammad Umair, Anna Maria Pinto, Abid Ali Khan, Alamzeb Khan, null Saima, Alessandra Fabbiani, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Sara Resciniti, Karla A. Peña-Guerra, Francisco J. Guzmán-Vega, Stefan T. Arold, Francesca Ariani, Shahid Niaz Khan, Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, null, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A, Guzmán-Vega, Francisco J, Arold, Stefan T, Ariani, Francesca, and Khan, Shahid Niaz

Subjects
whole exome sequencing (WES), Cellular and Molecular Neuroscience, SPTBN5, heterozygous mutation, protein modeling 3, intellectual disability (ID), Molecular Biology
Abstract

Whole exome sequencing has provided significant opportunities to discover novel candidate genes for intellectual disability and autism spectrum disorders. Variants in the spectrin genes SPTAN1, SPTBN1, SPTBN2, and SPTBN4 have been associated with neurological disorders; however, SPTBN5 gene-variants have not been associated with any human disorder. This is the first report that associates SPTBN5 gene variants (ENSG00000137877: c.266A>C; p.His89Pro, c.9784G>A; p.Glu3262Lys, c.933C>G; p.Tyr311Ter, and c.8809A>T; p.Asn2937Tyr) causing neurodevelopmental phenotypes in four different families. The SPTBN5-associated clinical traits in our patients include intellectual disability (mild to severe), aggressive tendencies, accompanied by variable features such as craniofacial and physical dysmorphisms, autistic behavior, and gastroesophageal reflux. We also provide a review of the existing literature related to other spectrin genes, which highlights clinical features partially overlapping with SPTBN5.

Published
2022

23. The AutoInflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

Author

Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, Gaafar Ragab, Emma Aragona, Ewa Wiesik-Szewczyk, Djouher Ait-Idir, Giovanni Conti, Ludovica Iezzi, Maria Cristina Maggio, Marco Cattalini, Francesco La Torre, Giuseppe Lopalco, Elena Verrecchia, Amato de Paulis, Ali Sahin, Antonella Insalaco, Petros P. Sfikakis, Achille Marino, Micol Frassi, Benson Ogunjimi, Daniela Opris-Belinski, Paola Parronchi, Giacomo Emmi, Farhad Shahram, Francesco Ciccia, Matteo Piga, José Hernández-Rodríguez, Rosa Maria R. Pereira, Maria Alessio, Roberta Naddei, Alma Nunzia Olivieri, Emanuela Del Giudice, Paolo Sfriso, Piero Ruscitti, Francesca Li Gobbi, Hamit Kucuk, Jurgen Sota, Mohamed A. Hussein, Giuseppe Malizia, Karina Jahnz-Różyk, Rawda Sari-Hamidou, Mery Romeo, Francesca Ricci, Fabio Cardinale, Florenzo Iannone, Francesca Della Casa, Marco Francesco Natale, Katerina Laskari, Teresa Giani, Franco Franceschini, Vito Sabato, Derya Yildirim, Valeria Caggiano, Mohamed Tharwat Hegazy, Rosalba Di Marzo, Aleksandra Kucharczyk, Ghalia Khellaf, Maria Tarsia, Ibrahim A. Almaghlouth, Ahmed Hatem Laymouna, Violetta Mastrorilli, Laura Dotta, Luca Benacquista, Salvatore Grosso, Francesca Crisafulli, Veronica Parretti, Heitor F. Giordano, Ayman Abdel-Monem Ahmed Mahmoud, Rossana Nuzzolese, Marta De Musso, Cecilia Beatrice Chighizola, Stefano Gentileschi, Mirella Morrone, Ilenia Di Cola, Veronica Spedicato, Henrique A. Mayrink Giardini, Ibrahim Vasi, Alessandra Renieri, Alessandra Fabbiani, Maria Antonietta Mencarelli, Bruno Frediani, Alberto Balistreri, Gian Marco Tosi, Claudia Fabiani, Merav Lidar, Donato Rigante, Luca Cantarini, Gaggiano, Carla, Vitale, Antonio, Tufan, Abdurrahman, Ragab, Gaafar, Aragona, Emma, Wiesik-Szewczyk, Ewa, Ait-Idir, Djouher, Conti, Giovanni, Iezzi, Ludovica, Maggio, Maria Cristina, Cattalini, Marco, Torre, Francesco La, Lopalco, Giuseppe, Verrecchia, Elena, de Paulis, Amato, Sahin, Ali, Insalaco, Antonella, Sfikakis, Petros P, Marino, Achille, Frassi, Micol, Ogunjimi, Benson, Opris-Belinski, Daniela, Parronchi, Paola, Emmi, Giacomo, Shahram, Farhad, Ciccia, Francesco, Piga, Matteo, Hernández-Rodríguez, José, Pereira, Rosa Maria R, Alessio, Maria, Naddei, Roberta, Olivieri, Alma Nunzia, Giudice, Emanuela Del, Sfriso, Paolo, Ruscitti, Piero, Gobbi, Francesca Li, Kucuk, Hamit, Sota, Jurgen, Hussein, Mohamed A, Malizia, Giuseppe, Jahnz-Różyk, Karina, Sari-Hamidou, Rawda, Romeo, Mery, Ricci, Francesca, Cardinale, Fabio, Iannone, Florenzo, Casa, Francesca Della, Natale, Marco Francesco, Laskari, Katerina, Giani, Teresa, Franceschini, Franco, Sabato, Vito, Yildirim, Derya, Caggiano, Valeria, Hegazy, Mohamed Tharwat, Marzo, Rosalba Di, Kucharczyk, Aleksandra, Khellaf, Ghalia, Tarsia, Maria, Almaghlouth, Ibrahim A, Laymouna, Ahmed Hatem, Mastrorilli, Violetta, Dotta, Laura, Benacquista, Luca, Grosso, Salvatore, Crisafulli, Francesca, Parretti, Veronica, Giordano, Heitor F, Mahmoud, Ayman Abdel-Monem Ahmed, Nuzzolese, Rossana, Musso, Marta De, Chighizola, Cecilia Beatrice, Gentileschi, Stefano, Morrone, Mirella, Cola, Ilenia Di, Spedicato, Veronica, Giardini, Henrique A Mayrink, Vasi, Ibrahim, Renieri, Alessandra, Fabbiani, Alessandra, Mencarelli, Maria Antonietta, Frediani, Bruno, Balistreri, Alberto, Tosi, Gian Marco, Fabiani, Claudia, Lidar, Merav, Rigante, Donato, Cantarini, Luca, Cristina Maggio, Maria, La Torre, Francesco, DE PAULIS, Amato, Sfikakis, Petros P., Pereira, Rosa Maria R., Nunzia Olivieri, Alma, Del Giudice, Emanuela, Li Gobbi, Francesca, Hussein, Mohamed A., Jahnz-Ró˙zyk, Karina, DELLA CASA, Francesca, Francesco Natale, Marco, Tharwat Hegazy, Mohamed, Di Marzo, Rosalba, Kucharczy, Aleksandra, Almaghlouth, Ibrahim A., Hatem Laymouna, Ahmed, Giordano, Heitor F., Abdel-Monem Ahmed Mahmoud, Ayman, De Musso, Marta, Beatrice Chighizola, Cecilia, Di Cola, Ilenia, Mayrink Giardini, Henrique. A., Antonietta Mencarelli, Maria, Marco Tosi, Gian, and Autoinflammatory Diseases Alliance (AIDA) Network

Subjects
Registry, Settore MED/38 - Pediatria Generale E Specialistica, Settore MED/16 - REUMATOLOGIA, autoinflammatory disease, precision medicine, Autoinflammatory diseases, rare diseases, Human medicine, personalized medicine, General Medicine, autoinflammatory diseases, international registry
Abstract

ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture (REDCap) tool, used for real-world data collection of demographics, clinical, laboratory, instrumental and socioeconomic data of mAIDs patients. The instrument has flexibility, may change over time based on new scientific acquisitions, and communicate potentially with other similar registries; security, data quality and data governance are corner stones of the platform.ResultsAIDA project will share knowledge and expertise on mAIDs. Since its start, 118 centers from 24 countries and 4 continents have joined the AIDA project. Fifty-nine centers have already obtained the approval from their local Ethics Committees. Currently, the platform counts 337 users (122 Principal Investigators, 210 Site Investigators, 2 Lead Investigators, and 3 data managers). The Registry collects baseline and follow-up data using 3,748 fields organized into 21 instruments, which include demographics, patient history, symptoms, trigger/risk factors, therapies, and healthcare information for mAIDs patients.ConclusionsThe AIDA mAIDs Registry, acts both as a research tool for future collaborative real-life studies on mAIDs and as a service to connect all the figures called to participate. On this basis, the registry is expected to play a pivotal role in generating new scientific evidence on this group of rare diseases, substantially improving the management of patients, and optimizing the impact on the healthcare system. NCT 05200715 available at https://clinicaltrials.gov.

Published
2022

24. Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

Author

Antonio Vitale, Valeria Caggiano, Francesca Della Casa, José Hernández-Rodríguez, Micol Frassi, Sara Monti, Abdurrahman Tufan, Salvatore Telesca, Edoardo Conticini, Gaafar Ragab, Giuseppe Lopalco, Ibrahim Almaghlouth, Rosa Maria R. Pereira, Derya Yildirim, Marco Cattalini, Achille Marino, Teresa Giani, Francesco La Torre, Piero Ruscitti, Emma Aragona, Ewa Wiesik-Szewczyk, Emanuela Del Giudice, Petros P. Sfikakis, Marcello Govoni, Giacomo Emmi, Maria Cristina Maggio, Roberto Giacomelli, Francesco Ciccia, Giovanni Conti, Djouher Ait-Idir, Claudia Lomater, Vito Sabato, Matteo Piga, Ali Sahin, Daniela Opris-Belinski, Ruxandra Ionescu, Elena Bartoloni, Franco Franceschini, Paola Parronchi, Amato de Paulis, Gerard Espinosa, Armin Maier, Gian Domenico Sebastiani, Antonella Insalaco, Farhad Shahram, Paolo Sfriso, Francesca Minoia, Maria Alessio, Joanna Makowska, Gülen Hatemi, Nurullah Akkoç, Francesca Li Gobbi, Antonio Gidaro, Alma Nunzia Olivieri, Sulaiman M. Al-Mayouf, Sükran Erten, Stefano Gentileschi, Ibrahim Vasi, Maria Tarsia, Ayman Abdel-Monem Ahmed Mahmoud, Bruno Frediani, Musa Fares Alzahrani, Ahmed Hatem Laymouna, Francesca Ricci, Fabio Cardinale, Karina Jahnz-Rózyk, Gian Marco Tosi, Francesca Crisafulli, Alberto Balistreri, Marília A. Dagostin, Mahmoud Ghanema, Carla Gaggiano, Jurgen Sota, Ilenia Di Cola, Claudia Fabiani, Henrique A. Mayrink Giardini, Alessandra Renieri, Alessandra Fabbiani, Anna Carrer, Monica Bocchia, Federico Caroni, Donato Rigante, Luca Cantarini, Vitale, Antonio, Caggiano, Valeria, Della Casa, Francesca, Hernández-Rodríguez, José, Frassi, Micol, Monti, Sara, Tufan, Abdurrahman, Telesca, Salvatore, Conticini, Edoardo, Ragab, Gaafar, Lopalco, Giuseppe, Almaghlouth, Ibrahim, Pereira, Rosa Maria R, Yildirim, Derya, Cattalini, Marco, Marino, Achille, Giani, Teresa, La Torre, Francesco, Ruscitti, Piero, Aragona, Emma, Wiesik-Szewczyk, Ewa, Del Giudice, Emanuela, Sfikakis, Petros P, Govoni, Marcello, Emmi, Giacomo, Maggio, Maria Cristina, Giacomelli, Roberto, Ciccia, Francesco, Conti, Giovanni, Ait-Idir, Djouher, Lomater, Claudia, Sabato, Vito, Piga, Matteo, Sahin, Ali, Opris-Belinski, Daniela, Ionescu, Ruxandra, Bartoloni, Elena, Franceschini, Franco, Parronchi, Paola, de Paulis, Amato, Espinosa, Gerard, Maier, Armin, Sebastiani, Gian Domenico, Insalaco, Antonella, Shahram, Farhad, Sfriso, Paolo, Minoia, Francesca, Alessio, Maria, Makowska, Joanna, Hatemi, Gülen, Akkoç, Nurullah, Li Gobbi, Francesca, Gidaro, Antonio, Olivieri, Alma Nunzia, Al-Mayouf, Sulaiman M, Erten, Sükran, Gentileschi, Stefano, Vasi, Ibrahim, Tarsia, Maria, Mahmoud, Ayman Abdel-Monem Ahmed, Frediani, Bruno, Fares Alzahrani, Musa, Laymouna, Ahmed Hatem, Ricci, Francesca, Cardinale, Fabio, Jahnz-Rózyk, Karina, Tosi, Gian Marco, Crisafulli, Francesca, Balistreri, Alberto, Dagostin, Marília A, Ghanema, Mahmoud, Gaggiano, Carla, Sota, Jurgen, Di Cola, Ilenia, Fabiani, Claudia, Giardini, Henrique A Mayrink, Renieri, Alessandra, Fabbiani, Alessandra, Carrer, Anna, Bocchia, Monica, Caroni, Federico, Rigante, Donato, Cantarini, Luca, Vitale, A, Caggiano, V, Della Casa, F, Hernández-Rodríguez, J, Frassi, M, Monti, S, Tufan, A, Telesca, S, Conticini, E, Ragab, G, Lopalco, G, Almaghlouth, I, Pereira, Rmr, Yildirim, D, Cattalini, M, Marino, A, Giani, T, La Torre, F, Ruscitti, P, Aragona, E, Wiesik-Szewczyk, E, Del Giudice, E, Sfikakis, Pp, Govoni, M, Emmi, G, Maggio, Mc, Giacomelli, R, Ciccia, F, Conti, G, Ait-Idir, D, Lomater, C, Sabato, V, Piga, M, Sahin, A, Opris-Belinski, D, Ionescu, R, Bartoloni, E, Franceschini, F, Parronchi, P, de Paulis, A, Espinosa, G, Maier, A, Sebastiani, Gd, Insalaco, A, Shahram, F, Sfriso, P, Minoia, F, Alessio, M, Makowska, J, Hatemi, G, Akkoç, N, Li Gobbi, F, Gidaro, A, Olivieri, An, Al-Mayouf, Sm, Erten, S, Gentileschi, S, Vasi, I, Tarsia, M, Mahmoud, Aaa, Frediani, B, Fares Alzahrani, M, Laymouna, Ah, Ricci, F, Cardinale, F, Jahnz-Rózyk, K, Tosi, Gm, Crisafulli, F, Balistreri, A, Dagostin, Ma, Ghanema, M, Gaggiano, C, Sota, J, Di Cola, I, Fabiani, C, Giardini, Ham, Renieri, A, Fabbiani, A, Carrer, A, Bocchia, M, Caroni, F, Rigante, D, and Cantarini, L.

Subjects
Registry, Keywords: autoinflammatory diseases, clinical management, precision medicine, rare diseases, research, treatment, Settore MED/16 - REUMATOLOGIA, rare disease, General Medicine, autoinflammatory diseases, Settore MED/38 - Pediatria Generale E Specialistica, autoinflammatory disease, VEXAS syndrome, Human medicine
Abstract

ObjectiveThe aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thus enhancing international collaboration and data sharing for research purposes. The Registry is practical enough to be easily modified to meet future needs regarding VEXAS syndrome.ResultsTo date (April 22nd, 2022), 113 Centers from 23 Countries in 4 continents have been involved; 324 users (114 Principal Investigators, 205 Site Investigators, 2 Lead Investigators, and 3 data managers) are currently able to access the registry for data entry (or data sharing) and collection. The Registry includes 4,952 fields organized into 18 instruments designed to fully describe patient's details about demographics, clinical manifestations, symptoms, histologic details about skin and bone marrow biopsies and aspirate, laboratory features, complications, comorbidities, therapies, and healthcare access.ConclusionThis international Registry for patients with VEXAS syndrome will allow the achievement of a comprehensive knowledge about this new disease, with the final goal to obtain real-world evidence for daily clinical practice, especially in relation to the comprehension of this disease about the natural history and the possible therapeutic approaches. This Project can be found on https://clinicaltrials.gov NCT05200715.

Published
2022

25. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

Author

Pavinato L, Delle Vedove A, Carli D, Ferrero M, Carestiato S, Howe JL, Agolini E, Coviello DA, van de Laar I, Au PYB, Di Gregorio E, Fabbiani A, Croci S, Mencarelli MA, Bruno LP, Renieri A, Veltra D, Sofocleous C, Faivre L, Mazel B, Safraou H, Denommé-Pichon AS, van Slegtenhorst MA, Giesbertz N, van Jaarsveld RH, Childers A, Rogers RC, Novelli A, De Rubeis S, Buxbaum JD, Scherer SW, Ferrero GB, Wirth B, and Brusco A

Subjects
Animals, Mice, Humans, Haploinsufficiency genetics, Proteins genetics, Cell Cycle Proteins genetics, Autism Spectrum Disorder genetics, Attention Deficit Disorder with Hyperactivity, Induced Pluripotent Stem Cells, Neurodevelopmental Disorders complications, Neurodevelopmental Disorders genetics, Language Development Disorders
Abstract

We describe an autosomal dominant disorder associated with loss-of-function variants in the Cell cycle associated protein 1 (CAPRIN1; MIM*601178). CAPRIN1 encodes a ubiquitous protein that regulates the transport and translation of neuronal mRNAs critical for synaptic plasticity, as well as mRNAs encoding proteins important for cell proliferation and migration in multiple cell types. We identified 12 cases with loss-of-function CAPRIN1 variants, and a neurodevelopmental phenotype characterized by language impairment/speech delay (100%), intellectual disability (83%), attention deficit hyperactivity disorder (82%) and autism spectrum disorder (67%). Affected individuals also had respiratory problems (50%), limb/skeletal anomalies (50%), developmental delay (42%) feeding difficulties (33%), seizures (33%) and ophthalmologic problems (33%). In patient-derived lymphoblasts and fibroblasts, we showed a monoallelic expression of the wild-type allele, and a reduction of the transcript and protein compatible with a half dose. To further study pathogenic mechanisms, we generated sCAPRIN1+/- human induced pluripotent stem cells via CRISPR-Cas9 mutagenesis and differentiated them into neuronal progenitor cells and cortical neurons. CAPRIN1 loss caused reduced neuronal processes, overall disruption of the neuronal organization and an increased neuronal degeneration. We also observed an alteration of mRNA translation in CAPRIN1+/- neurons, compatible with its suggested function as translational inhibitor. CAPRIN1+/- neurons also showed an impaired calcium signalling and increased oxidative stress, two mechanisms that may directly affect neuronal networks development, maintenance and function. According to what was previously observed in the mouse model, measurements of activity in CAPRIN1+/- neurons via micro-electrode arrays indicated lower spike rates and bursts, with an overall reduced activity. In conclusion, we demonstrate that CAPRIN1 haploinsufficiency causes a novel autosomal dominant neurodevelopmental disorder and identify morphological and functional alterations associated with this disorder in human neuronal models., (© The Author(s) 2022. Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Published
2023
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26. Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes

Author

Doddato G, Valentino F, Giliberti A, Papa FT, Tita R, Bruno LP, Resciniti S, Fallerini C, Benetti E, Palmieri M, Mencarelli MA, Fabbiani A, Bruttini M, Orrico A, Baldassarri M, Fava F, Lopergolo D, Lo Rizzo C, Lamacchia V, Mannucci S, Pinto AM, Curr A, Mancini V, Mari F, Renieri A, and Ariani F

Abstract

Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the BRCA1-2 highly penetrant genes, however, other cancer susceptibility genes may also be involved. By Exome Sequencing (WES) we analyzed a series of 200 individuals selected for genetic testing in BRCA1-2 genes according to the updated National Comprehensive Cancer Network (NCCN) guidelines. Analysis by MLPA was performed to detect large BRCA1-2 deletions/duplications. Focusing on BRCA1-2 genes, data analysis identified 11 cases with pathogenic variants (4 in BRCA1 and 7 in BRCA1-2 ) and 12 with uncertain variants (7 in BRCA1 and 5 in BRCA2 ). Only one case was found with a large BRCA1 deletion. Whole exome analysis allowed to characterize pathogenic variants in 21 additional genes: 10 genes more traditionally associated to breast and ovarian cancer ( ATM , BRIP1 , CDH1 , PALB2 , PTEN , RAD51C , and TP53 ) (5% diagnostic yield) and 11 in candidate cancer susceptibility genes ( DPYD , ERBB3 , ERCC2 , MUTYH , NQO2 , NTHL1 , PARK2 , RAD54L , and RNASEL ). In conclusion, this study allowed a personalized risk assessment and clinical surveillance in an increased number of HBOC families and to broaden the spectrum of causative variants also to candidate non-canonical genes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright 2021 Doddato, Valentino, Giliberti, Papa, Tita, Bruno, Resciniti, Fallerini, Benetti, Palmieri, Mencarelli, Fabbiani, Bruttini, Orrico, Baldassarri, Fava, Lopergolo, Lo Rizzo, Lamacchia, Mannucci, Pinto, Curr, Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Mari, Renieri and Ariani.)

Published
2021
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27. Practices and Perceptions of Family Centered Care among Healthcare Providers: A Cross-sectional Study in a Pediatric Hospital.

Author

Dall'Oglio I, Di Furia M, Tiozzo E, Gawronski O, Biagioli V, Di Ciommo VM, Paoletti S, Bianchi N, Celesti L, Raponi M, Antonielli G, Baronio B, Bergami A, Cianchi D, Ciliento G, Vittoria Di Toppa M, Fabbiani A, Fagioli D, Frillici C, Guerrieri S, Lazo J, Madeddu R, Molinari F, Niccolò R, Padrini S, Paolucci F, Pomponi M, Ragni A, Tramutola P, and Ventura M

Subjects
Adult, Analysis of Variance, Child, Child, Preschool, Cross-Sectional Studies, Delivery of Health Care, Female, Humans, Italy, Male, Middle Aged, Multivariate Analysis, Pediatric Nursing methods, Perception, Young Adult, Attitude of Health Personnel, Health Personnel organization & administration, Hospitals, Pediatric organization & administration, Patient-Centered Care organization & administration, Surveys and Questionnaires
Abstract

Purpose: This study aimed to: (1) investigate the extent to which Family Centered Care (FCC) principles are currently applied in clinical practice by healthcare providers working in inpatient units; (2) evaluate the extent to which FCC principles are perceived as necessary; and (3) examine the associations between FCC principles and socio-demographic and job characteristics of participants. Design and Methods A cross-sectional study was conducted at a large pediatric hospital using the Italian version of the FCC Questionnaire Revised (FCCQ-R). Univariate and multivariate analyses were performed., Results: Data from 469 healthcare providers were used for analysis. Scores for the FCC daily practices (Current activities) were significantly lower than those for their perceived necessity (Necessary activities) (p < .001). Participants who were male, younger, with work experience >20 years and working in rehabilitation reported a significantly higher perception of Current activities of FCC than others. The older and the more educated the participants, the greater was the perceived necessity of FCC activities. Female, older, and less experienced participants employed by the hospital but not working in the rehabilitation setting perceived a greater gap between Necessary and Current activities of FCC., Conclusions: Scores for the Current and Necessary activities of FCC were lower than those reported in other studies. The lower scores in the Current activities and the significant gap can be due to organizational barriers or lack of skills, but the lower scores in the Necessary activities should be interpreted as a deficit of knowledge about FCC., Practice Implications: There is a need for further education about FCC in order to increase its perceived relevance in clinical practice., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Published
2018
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