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13 results on '"Montemagni, C."'

1. Genome-wide association study detected novel susceptibility genes for social cognition impairment in people with schizophrenia

Author

Gennarelli, M., Monteleone, P., Minelli, A., Monteleone, A. M., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Bellino, S., Bellomo, A., Biondi, M., Bucci, P., Carpiniello, B., Cascino, G., Cuomo, A., Dell'Osso, L., di Giannantonio, M., Giordano, G. M., Marchesi, C., Oldani, L., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Tenconi, E., Vita, A., Zeppegno, P., Galderisi, S., Maj, M., Corrivetti, G., Del Buono, G., Torretta, S., Calia, V., Raio, A., Barlati, S., Deste, G., Magri, C., Valsecchi, P., Pinna, F., Muscas, M., Marras, L., Piegari, G., Giuliani, L., Brando, F., Coccia, C., Concerto, C., Poli, L. F., Surace, T., Martinotti, G., Pettorruso, M., Fraticelli, S., Altamura, M., Pasquale Tortorelli, F. M., Mollica, A., Calcagno, P., Murri, M. B., Serafini, G., Pacitti, F., Socci, V., Lucaselli, A., Giusti, L., Mammarella, S., Bianchini, V., Gramaglia, C., Gambaro, E., Martelli, M., Favaro, A., Meneguzzo, P., Collantoni, E., Tonna, M., Ossola, P., Gerra, M. L., Carmassi, C., Carpita, B., Cremone, I. M., Comparelli, A., Brugnoli, R., Corigliano, V., Fagiolini, A., Bolognesi, S., Goracci, A., Di Lorenzo, G., Ribolsi, M., Niolu, C., Bozzatello, P., Brasso, C., Montemagni, C., Buzzanca, A., Di Fabio, F., Girardi, N., Gennarelli, Massimo, Monteleone, Palmiero, Minelli, Alessandra, Monteleone, Alessio Maria, Rossi, Alessandro, Rocca, Paola, Bertolino, Alessandro, Aguglia, Eugenio, Amore, Mario, Bellino, Silvio, Bellomo, Antonello, Biondi, Massimo, Bucci, Paola, Carpiniello, Bernardo, Cascino, Giammarco, Cuomo, Alessandro, Dell'Osso, Liliana, di Giannantonio, Massimo, Giordano, Giulia Maria, Marchesi, Carlo, Oldani, Lucio, Pompili, Maurizio, Roncone, Rita, Rossi, Rodolfo, Siracusano, Alberto, Tenconi, Elena, Vita, Antonio, Zeppegno, Patrizia, Galderisi, Silvana, and Maj, Mario

Subjects
Treatment outcome, GWAS, Social cognition, TMEM74, meta-analysis, schizophrenia, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Membrane Proteins, Polymorphism, Single Nucleotide, Schizophrenia, Social Cognition, Susceptibility gene, Genome-wide association study, Biology, Affect (psychology), meta-analysi, 03 medical and health sciences, 0302 clinical medicine, medicine, SNP, Polymorphism, Biological Psychiatry, Genetics, Single Nucleotide, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Settore MED/25, Meta-analysis
Abstract

Objectives People with schizophrenia (SCZ) present serious and generalised deficits in social cognition (SC), which affect negatively patients' functioning and treatment outcomes. The genetic background of SC has been investigated in disorders other than SCZ providing weak and sparse results. Thus, our aim was to explore possible genetic correlates of SC dysfunctions in SCZ patients with a genome-wide study (GWAS) approach. Methods We performed a GWAS meta-analysis of data coming from two cohorts made of 242 and 160 SCZ patients, respectively. SC was assessed with different tools in order to cover its different domains. Results We found GWAS significant association between the TMEM74 gene and the patients' ability in social inference as assessed by The Awareness of Social Inference Test; this association was confirmed by both SNP-based analysis (lead SNP rs3019332 p-value = 5.24 × 10-9) and gene-based analysis (p-value = 1.09 × 10-7). Moreover, suggestive associations of other genes with different dimensions of SC were also found. Conclusions Our study shows for the first time GWAS significant or suggestive associations of some gene variants with SC domains in people with SCZ. These findings should stimulate further studies to characterise the genetic underpinning of SC dysfunctions in SCZ.

Published
2022

2. Prevalence of antipsychotic-induced extrapyramidal symptoms and their association with neurocognition and social cognition in outpatients with schizophrenia in the 'real-life'

Author

Monteleone, P., Cascino, G., Monteleone, A. M., Rocca, P., Rossi, A., Bertolino, A., Aguglia, E., Amore, M., Collantoni, E., Corrivetti, G., Cuomo, A., Bellomo, A., D'Ambrosio, E., Dell'Osso, L., Frascarelli, M., Giordano, G. M., Giuliani, L., Marchesi, C., Montemagni, C., Oldani, L., Pinna, F., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Vita, A., Zeppegno, P., Galderisi, S., Maj, M., Del Buono, G., Marciello, F., Di Palo, P., Sangiuliano, M., Di Gioia, C., Barlati, S., Deste, G., Turrina, C., Carpiniello, B., Marras, L., Muscas, M., Bucci, P., Piegari, G., Brando, F., Aiello, C., Poli, L. F., Saitta, G., Surace, T., Altamura, M., Malerba, S., Padalino, F., Calcagno, P., Murri, M. B., Escelsior, A., Giusti, L., Bianchini, V., Salza, A., Pacitti, F., Socci, V., Lucaselli, A., De Bartolomeis, A., Gramaglia, C., Feggi, A., Jona, A., Favaro, A., Tenconi, E., Meneguzzo, P., Ossola, P., Tonna, M., Gerra, M. L., Carmassi, C., Cremone, I. M., Carpita, B., Biondi, M., Di Fabio, F., Accinni, T., Brugnoli, R., Comparelli, A., Corigliano, V., Fagiolini, A., Bolognesi, S., Goracci, A., Di Lorenzo, G., Ribolsi, M., Niolu, C., Brasso, C., Riccardi, C., Del Favero, E., Monteleone, P., Cascino, G., Monteleone, A. M., Rocca, P., Rossi, A., Bertolino, A., Aguglia, E., Amore, M., Collantoni, E., Corrivetti, G., Cuomo, A., Bellomo, A., D'Ambrosio, E., Dell'Osso, L., Frascarelli, M., Giordano, G. M., Giuliani, L., Marchesi, C., Montemagni, C., Oldani, L., Pinna, F., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Vita, A., Zeppegno, P., Galderisi, S., and Maj, M.

Subjects
Adult, Male, Social Cognition, Extrapyramidal symptoms, Chlorpromazine, medicine.medical_treatment, Antipsychotic, 03 medical and health sciences, 0302 clinical medicine, Cognition, Basal Ganglia Diseases, Social cognition, Prevalence, Medicine, Antipsychotics, Humans, Extrapyramidal symptom, Neurocognition, Biological Psychiatry, Pharmacology, business.industry, Parkinsonism, Middle Aged, medicine.disease, Risperidone, 030227 psychiatry, Settore MED/25, Schizophrenia, Female, Schizophrenic Psychology, medicine.symptom, business, Neurocognitive, Antipsychotic Agents, Psychopathology, Clinical psychology
Abstract

First generation antipsychotics (FGAs) are more likely to induce extrapyramidal side-effects (EPS) than second generation antipsychotics (SGAs), and EPS have been shown associated to cognitive deficits in schizophrenia. So far, no study has explored the relationships between EPS and social cognition (SC) in people with schizophrenia. Therefore, we assessed the prevalence of EPS in a large sample of drug-treated community-dwelling persons with schizophrenia and explored their relationships with patients' neurocognitive and SC abilities. 875 patients underwent EPS, psychopathological, neurocognitive and SC assessments by means of standardized measures. Relationships between EPS, psychopathology and neurocognitive and SC measures were investigated by correlation tests. Moreover, a partial correlation network was computed by means of a network analysis. 256 patients were treated with FGAs alone or in combination with SGA and 619 with SGAs. EPS were significantly more frequent in FGA-treated group than in the SGA-treated one. Patients with EPS disclosed a more severe psychopathology and were more impaired in neurocognitive and SC measures compared to those without EPS. Disorganization, expressive deficit, and duration of illness were significantly associated to both neurocognitive and SC measures while EPS were associated to neurocognitive measures only. The network analysis showed that parkinsonism was the sole EPS directly connected to both psychopathological and neurocognitive indices whereas no direct connection emerged between EPS and SC measures. Present findings confirm that EPS are still present in the era of SGAs and contribute, together with other clinical variables, to the neurocognitive but not to the SC impairment of patients with schizophrenia.

Published
2021

3. The influence of autistic symptoms on social and non-social cognition and on real-life functioning in people with schizophrenia: Evidence from the Italian Network for Research on Psychoses multicenter study

Author

Vita, A., Barlati, S., Deste, G., Rocca, P., Rossi, A., Bertolino, A., Aguglia, E., Amore, M., Bellomo, A., Biondi, M., Carpiniello, B., Collantoni, E., Cuomo, A., D'Ambrosio, E., dell' Osso, L., di Giannantonio, M., Giordano, G. M., Marchesi, C., Monteleone, P., Montemagni, C., Oldani, L., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Zeppegno, P., Nibbio, G., Galderisi, S., Maj, M., Ceraso, A., Galluzzo, A., Lisoni, J., Di Palo, P., Papalino, M., Romano, R., Pinna, F., Lai, A., di Santa Sofia, S. L., Bucci, P., Piegari, G., Brando, F., Giuliani, L., Signorelli, M. S., Poli, L. F., Martinotti, G., Pettorruso, M., Montemitro, C., Altamura, M., Malerba, S., Padalino, F., Amerio, A., Cal-Cagno, P., Zampogna, D., Giusti, L., Salza, A., Mammarella, S., Pacitti, F., Socci, V., Talevi, D., Gramaglia, C., Feggi, A., Jona, A., Favaro, A., Tenconi, E., Meneguzzo, P., Ossola, P., Tonna, M., Gerra, M. L., Carmassi, C., Gesi, C., Carpita, B., Corrivetti, G., Cascino, G., del Buono, G., Di Fabio, F., Buzzanca, A., Girardi, N., Brugnoli, R., Comparelli, A., Corigliano, V., Fagiolini, A., Bolognesi, S., Goracci, A., Di Lorenzo, G., Niolu, C., Ribolsi, M., Brasso, C., Riccardi, C., Del Favero, E., Vita, A., Barlati, S., Deste, G., Rocca, P., Rossi, A., Bertolino, A., Aguglia, E., Amore, M., Bellomo, A., Biondi, M., Carpiniello, B., Collantoni, E., Cuomo, A., D'Ambrosio, E., dell' Osso, L., di Giannantonio, M., Giordano, G. M., Marchesi, C., Monteleone, P., Montemagni, C., Oldani, L., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Zeppegno, P., Nibbio, G., Galderisi, S., Maj, M., Ceraso, A., Galluzzo, A., Lisoni, J., Di Palo, P., Papalino, M., Romano, R., Pinna, F., Lai, A., di Santa Sofia, S. L., Bucci, P., Piegari, G., Brando, F., Giuliani, L., Signorelli, M. S., Poli, L. F., Martinotti, G., Pettorruso, M., Montemitro, C., Altamura, M., Malerba, S., Padalino, F., Amerio, A., Cal-Cagno, P., Zampogna, D., Giusti, L., Salza, A., Mammarella, S., Pacitti, F., Socci, V., Talevi, D., Gramaglia, C., Feggi, A., Jona, A., Favaro, A., Tenconi, E., Meneguzzo, P., Ossola, P., Tonna, M., Gerra, M. L., Carmassi, C., Gesi, C., Carpita, B., Corrivetti, G., Cascino, G., del Buono, G., Di Fabio, F., Buzzanca, A., Girardi, N., Brugnoli, R., Comparelli, A., Corigliano, V., Fagiolini, A., Bolognesi, S., Goracci, A., Di Lorenzo, G., Niolu, C., Ribolsi, M., Brasso, C., Riccardi, C., and Del Favero, E.

Subjects
schizophrenia, autism spectrum disorders, cognition, psychosocial functioning, social cognition, Adult, Male, Social Cognition, Interpersonal Relation, autism spectrum disorders, cognition, psychosocial functioning, schizophrenia, social cognition, Disease, Autism spectrum disorders, Cognition, Psychosocial functioning, Schizophrenia, Social cognition, Psychotic Disorder, behavioral disciplines and activities, 03 medical and health sciences, Interpersonal relationship, 0302 clinical medicine, mental disorders, Medicine, Humans, Interpersonal Relations, Autism spectrum disorder, Autistic Disorder, business.industry, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Multicenter study, Settore MED/25, Italy, Psychotic Disorders, Autism, Female, Verbal memory, business, 030217 neurology & neurosurgery, Research Article, Clinical psychology, Human
Abstract

Background Autism spectrum disorders (ASDs) and schizophrenia spectrum disorders (SSDs), although conceptualized as separate entities, may share some clinical and neurobiological features. ASD symptoms may have a relevant role in determining a more severe clinical presentation of schizophrenic disorder but their relationships with cognitive aspects and functional outcomes of the disease remain to be addressed in large samples of individuals. Aims To investigate the clinical, cognitive, and functional correlates of ASD symptoms in a large sample of people diagnosed with schizophrenia. Methods The severity of ASD symptoms was measured with the PANSS Autism Severity Scale (PAUSS) in 921 individuals recruited for the Italian Network for Research on Psychoses multicenter study. Based on the PAUSS scores, three groups of subjects were compared on a wide array of cognitive and functional measures. Results Subjects with more severe ASD symptoms showed a poorer performance in the processing speed (p = 0.010), attention (p = 0.011), verbal memory (p = 0.035), and social cognition (p = 0.001) domains, and an overall lower global cognitive composite score (p = 0.010). Subjects with more severe ASD symptoms also showed poorer functional capacity (p = 0.004), real-world interpersonal relationships (p p Conclusions These findings strengthen the notion that ASD symptoms may have a relevant impact on different aspects of the disease, crucial to the life of people with schizophrenia. Prominent ASD symptoms may characterize a specific subpopulation of individuals with SSD.

Published
2020

4. Factors Associated With Real-Life Functioning in Persons With Schizophrenia in a 4-Year Follow-up Study of the Italian Network for Research on Psychoses

Author

Mucci, A., Galderisi, S., Gibertoni, D., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Bellomo, A., Biondi, M., Blasi, G., Brasso, C., Bucci, P., Carpiniello, B., Cuomo, A., Dell'Osso, L., Giordano, G. M., Marchesi, C., Monteleone, P., Niolu, C., Oldani, L., Pettorruso, M., Pompili, M., Roncone, R., Rossi, R., Tenconi, E., Vita, A., Zeppegno, P., Maj, M., Piegari, G., Aiello, C., Brando, F., Giuliani, L., Palumbo, D., Coccia, C., Papalino, M., Calia, V., Romano, R., Barlati, S., Deste, G., Valsecchi, P., Pinna, F., Lai, A., Lostia di Santa Sofia, S., Salvina Signorelli, M., Fusar Poli, L., Surace, T., Martinotti, G., Montemitro, C., Fraticelli, S., Altamura, M., Angelini, E., Elia, A., Calcagno, P., Belvederi Murri, M., Cattedra, S., Pacitti, F., Talevi, D., Socci, V., Giusti, L., Salza, A., Mammarella, S., de Bartolomeis, A., Favaro, A., Collantoni, E., Meneguzzo, P., Tonna, M., Ossola, P., Gerra, M. L., Gramaglia, C., Binda, V., Gambaro, E., Carmassi, C., Carpita, B., Cremone, I. M., Corrivetti, G., Cascino, G., Del Buono, G., Brugnoli, R., Comparelli, A., Corigliano, V., Buzzanca, A., Gerardi, N., Frascarelli, M., Fagiolini, A., Goracci, A., Bolognesi, S., Siracusano, A., Di Lorenzo, G., Ribolsi, M., Montemagni, C., Riccardi, C., Del Favero, E., Mucci, A., Galderisi, S., Gibertoni, D., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Bellomo, A., Biondi, M., Blasi, G., Brasso, C., Bucci, P., Carpiniello, B., Cuomo, A., Dell'Osso, L., Giordano, G. M., Marchesi, C., Monteleone, P., Niolu, C., Oldani, L., Pettorruso, M., Pompili, M., Roncone, R., Rossi, R., Tenconi, E., Vita, A., Zeppegno, P., Maj, M., Mucci A., Galderisi S., Gibertoni D., Rossi A., Rocca P., Bertolino A., Aguglia E., Amore M., Bellomo A., Biondi M., Blasi G., Brasso C., Bucci P., Carpiniello B., Cuomo A., Dell'Osso L., Giordano G.M., Marchesi C., Monteleone P., Niolu C., Oldani L., Pettorruso M., Pompili M., Roncone R., Rossi R., Tenconi E., Vita A., Zeppegno P., and Maj M.

Subjects
Adult, Hospitals, Psychiatric, Male, Mental Health Services, Social Cognition, Apathy, Psychological intervention, Relapse prevention, schizophrenia, functioning, psychopatology, Structural equation modeling, 03 medical and health sciences, 0302 clinical medicine, Medicine, Humans, Cognitive Dysfunction, Female, Follow-Up Studies, Independent Living, Italy, Middle Aged, Psychotic Disorders, Schizophrenia, Functional Status, Original Investigation, business.industry, Mental health, Hospitals, Cognitive training, 030227 psychiatry, Psychiatry and Mental health, Settore MED/25, schizophrenia, real-life functioning, SEM, Psychiatric, Work Skills, business, Psychosocial, 030217 neurology & neurosurgery, Psychopathology, Clinical psychology
Abstract

Importance: The goal of schizophrenia treatment has shifted from symptom reduction and relapse prevention to functional recovery; however, recovery rates remain low. Prospective identification of variables associated with real-life functioning domains is essential for personalized and integrated treatment programs. Objective: To assess whether baseline illness-related variables, personal resources, and context-related factors are associated with work skills, interpersonal relationships, and everyday life skills at 4-year follow-up. Design, Setting, and Participants: This multicenter prospective cohort study was conducted across 24 Italian university psychiatric clinics or mental health departments in which 921 patients enrolled in a cross-sectional study were contacted after 4 years for reassessment. Recruitment of community-dwelling, clinically stable persons with schizophrenia was conducted from March 2016 to December 2017, and data were analyzed from January to May 2020. Main Outcomes and Measures: Psychopathology, social and nonsocial cognition, functional capacity, personal resources, and context-related factors were assessed, with real-life functioning as the main outcome. Structural equation modeling, multiple regression analyses, and latent change score modeling were used to identify variables that were associated with real-life functioning domains at follow-up and with changes from baseline in these domains. Results: In total, 618 participants (427 male [69.1%]; mean [SD] age, 45.1 [10.5] years) were included. Five baseline variables were directly associated with real-life functioning at follow-up: neurocognition with everyday life (β, 0.274; 95% CI, 0.207-0.341; P

Published
2021

5. Premorbid academic and social functioning in patients with schizophrenia and its associations with negative symptoms and cognition

Author

Bucci, P., Galderisi, S., Mucci, A., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Andriola, I., Bellomo, A., Biondi, M., Cuomo, A., Dell'Osso, L., Favaro, A., Gambi, F., Giordano, G. M., Girardi, P., Marchesi, C., Monteleone, P., Montemagni, C., Niolu, C., Oldani, L., Pacitti, F., Pinna, F., Roncone, R., Vita, A., Zeppegno, P., Maj, M., Patriarca, Sara, Pietrafesa, Daria, Aiello, Carmen, Longo, Luisa, Barone, Marina, Romano, Raffaella, Atti, Anna Rita, Barlati, Stefano, Deste, Giacomo, Valsecchi, Paolo, Carpiniello, Bernardo, Tusconi, Massimo, Puddu, Laura, Signorelli, Maria Salvina, Cannavò, Dario, Minutolo, Giuseppe, Corbo, Mariangela, Montemitro, Chiara, Baroni, Gaia, Altamura, Mario, La Montagna, Maddalena, Carnevale, Raffaella, Murri, Martino Belvederi, Calcagno, Pietro, Bugliani, Michele, Pizziconi, Giulia, Logozzo, Francesca, Rossi, Rodolfo, Giusti, Laura, Salza, Anna, Malavolta, Maurizio, Orsenigo, Giulia, Grassi, Silvia, De Bartolomeis, Andrea, Gramaglia, Carla, Gattoni, Eleonora, Gambaro, Eleonora, Tenconi, Elena, Ferronato, Luisa, Collantoni, Enrico, Tonna, Matteo, Ossola, Paolo, Gerra, Maria Lidia, Carmassi, Claudia, Cremone, Ivan Mirko, Carpita, Barbara, Buzzanca, Antonio, Girardi, Nicoletta, Frascarelli, Marianna, Del Casale, Antonio, Comparelli, Anna, Corigliano, Valentina, Siracusano, Alberto, Di Lorenzo, Giorgio, Ribolsi, Michele, Corrivetti, Giulio, Bartoli, Luca, Del Buono, Gianfranco, Fagiolini, Andrea, Bolognesi, Simone, Goracci, Arianna, Mancini, Irene, Bava, Irene, Cardillo, Simona, Bucci P., Galderisi S., Mucci A., Rossi A., Rocca P., Bertolino A., Aguglia E., Amore M., Andriola I., Bellomo A., Biondi M., Cuomo A., dell'Osso L., Favaro A., Gambi F., Giordano G.M., Girardi P., Marchesi C., Monteleone P., Montemagni C., Niolu C., Oldani L., Pacitti F., Pinna F., Roncone R., Vita A., Zeppegno P., Maj M., Patriarca S., Pietrafesa D., Aiello C., Longo L., Barone M., Romano R., Atti A.R., Barlati S., Deste G., Valsecchi P., Carpiniello B., Tusconi M., Puddu L., Signorelli M.S., Cannavo D., Minutolo G., Corbo M., Montemitro C., Baroni G., Altamura M., La Montagna M., Carnevale R., Murri M.B., Calcagno P., Bugliani M., Pizziconi G., Logozzo F., Rossi R., Giusti L., Salza A., Malavolta M., Orsenigo G., Grassi S., De Bartolomeis A., Gramaglia C., Gattoni E., Gambaro E., Tenconi E., Ferronato L., Collantoni E., Tonna M., Ossola P., Gerra M.L., Carmassi C., Cremone I.M., Carpita B., Buzzanca A., Girardi N., Frascarelli M., Del Casale A., Comparelli A., Corigliano V., Siracusano A., Di Lorenzo G., Ribolsi M., Corrivetti G., Bartoli L., Del Buono G., Fagiolini A., Bolognesi S., Goracci A., Mancini I., Bava I., Cardillo S., Bucci, P., Galderisi, S., Mucci, A., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Andriola, I., Bellomo, A., Biondi, Maria, Cuomo, Anna, Dell'Osso, L., Favaro, A., Gambi, F., Giordano, G. M., Girardi, P., Marchesi, C., Monteleone, P., Montemagni, C., Niolu, C., Oldani, L., Pacitti, F., Pinna, F., Roncone, R., DE VITA, Anna, Zeppegno, P., Maj, M., Patriarca, Sara, Pietrafesa, Daria, Aiello, Carmen, Longo, Luisa, Barone, Marina, Romano, Raffaella, Atti, Anna Rita, Barlati, Stefano, Deste, Giacomo, Valsecchi, Paolo, Carpiniello, Bernardo, Tusconi, Massimo, Puddu, Laura, Signorelli, Maria Salvina, Cannavò, Dario, Minutolo, Giuseppe, Corbo, Mariangela, Montemitro, Chiara, Baroni, Gaia, Altamura, Mario, La Montagna, Maddalena, Carnevale, Raffaella, Murri, Martino Belvederi, Calcagno, Pietro, Bugliani, Michele, Pizziconi, Giulia, Logozzo, Francesca, Rossi, Rodolfo, Giusti, Laura, Salza, Anna, Malavolta, Maurizio, Orsenigo, Giulia, Grassi, Silvia, De Bartolomeis, Andrea, Gramaglia, Carla, Gattoni, Eleonora, Gambaro, Eleonora, Tenconi, Elena, Ferronato, Luisa, Collantoni, Enrico, Tonna, Matteo, Ossola, Paolo, Gerra, Maria Lidia, Carmassi, Claudia, Cremone, Ivan Mirko, Carpita, Barbara, Buzzanca, Antonio, Girardi, Nicoletta, Frascarelli, Marianna, Del Casale, Antonio, Comparelli, Anna, Corigliano, Valentina, Siracusano, Alberto, Di Lorenzo, Giorgio, Ribolsi, Michele, Corrivetti, Giulio, Bartoli, Luca, Del Buono, Gianfranco, Fagiolini, Andrea, Bolognesi, Simone, Goracci, Arianna, Mancini, Irene, Bava, Irene, Cardillo, Simona, Biondi, M., Cuomo, A., Vita, A., and Casale, Antonio

Subjects
Male, avolition, Severity of Illness Index, cognitive functioning, 0302 clinical medicine, Cognition, Academic Performance, Medicine, Psychopathology, Depression, primary negative symptoms, Middle Aged, Psychiatric Status Rating Scale, avolition, cognitive functioning, poor emotion expression, premorbid adjustment, primary negative symptoms, poor emotion expression, premorbid adjustment, Psychiatry and Mental Health, Memory, Short-Term, Schizophrenia, Female, Schizophrenic Psychology, medicine.symptom, Psychosocial, Social Adjustment, Clinical psychology, Human, Adult, primary negative symptom, 03 medical and health sciences, Cognition Disorder, Memory, Social cognition, Humans, Cognitive Dysfunction, Cognitive skill, Social Behavior, Aged, Cognition Disorders, Motivation, Psychiatric Status Rating Scales, Settore MED/25 - Psichiatria, Avolition, business.industry, medicine.disease, 030227 psychiatry, Short-Term, business, Neurocognitive, 030217 neurology & neurosurgery
Abstract

Objective The study aimed to explore premorbid academic and social functioning in patients with schizophrenia, and its associations with the severity of negative symptoms and neurocognitive impairment. Method Premorbid adjustment (PA) in patients with schizophrenia was compared to early adjustment in unaffected first-degree relatives and healthy controls. Its associations with psychopathology, cognition, and real-life functioning were investigated. The associations of PA with primary negative symptoms and their two factors were explored. Results We found an impairment of academic and social PA in patients (P ≤ 0.000001) and an impairment of academic aspects of early adjustment in relatives (P ≤ 0.01). Patients with poor PA showed greater severity of negative symptoms (limited to avolition after excluding the effect of depression/parkinsonism), working memory, social cognition, and real-life functioning (P ≤ 0.01 to ≤0.000001). Worse academic and social PA were associated with greater severity of psychopathology, cognitive impairment, and real-life functioning impairment (P ≤ 0.000001). Regression analyses showed that worse PA in the academic domain was mainly associated to the impairment of working memory, whereas worse PA in the social domain to avolition (P ≤ 0.000001). Conclusion Our findings suggest that poor early adjustment may represent a marker of vulnerability to schizophrenia and highlight the need for preventive/early interventions based on psychosocial and/or cognitive programs.

Published
2018

6. Familial aggregation of MATRICS Consensus Cognitive Battery scores in a large sample o outpatients with schizophrenia and their unaffected relatives

Author

Mucci A., Galderisi S., Green M. F., Nuechterlein K., Rucci P., Gibertoni D., Rossi A., Rocca P., Bertolino A., Bucci P., Hellemann G., Spisto M., Palumbo D., Aguglia E., Amodeo G., Amore M., Bellomo A., Brugnoli R., Carpiniello B., Dell'osso L., Di Fabio F., Di Giannantonio M., Di Lorenzo G., Marchesi C., Monteleone P., Montemagni C., Oldani L., Romano R., Roncone R., Stratta P., Tenconi E., Vita A., Zeppegno P., Maj M., Piegari G., Vignapiano A., Caputo F., Plescia G., Montefusco V., Mancini M., Attrotto M. T., Paladini V., Atti A. R., Barlati S., Galluzzo A., Mussoni C., Pinna F., Sanna L., Primavera D., Signorelli M. S., Minutolo G., Cannavo D., Acciavatti T., Santacroce R., Corbo M., Altamura M., La Montagna M., Carnevale R., Pizziconi G., Rossi R., Santarelli V., Giusti L., Malavolta M., Salza A., Murri M. B., Calcagno P., Bugliani M., Serati M., Orsenigo G., Gramaglia C., Gattoni E., Cattaneo C., Campagnola N., Ferronato L., Piovan C., Tonna M., Bettini E., Ossola P., Gesi C., Landi P., Rutigliano G., Biondi M., Girardi P., Buzzanca A., Zocconali M., Comparelli A., Mancinelli I., Niolu C., Ribolsi M., Siracusano A., Corrivetti G., Bartoli L., Diasco F., Bolognesi S., Goracci A., Fagiolini A., Bellino S., Cardillo S., Bracale N., Mucci, A., Galderisi, S., Green, M. F., Nuechterlein, K., Rucci, P., Gibertoni, D., Rossi, A., Rocca, P., Bertolino, A., Bucci, P., Hellemann, G., Spisto, M., Palumbo, D., Aguglia, E., Amodeo, G., Amore, M., Bellomo, A., Brugnoli, R., Carpiniello, B., Dell'Osso, L., Di Fabio, F., Di Giannantonio, M., Di Lorenzo, G., Marchesi, C., Monteleone, P., Montemagni, C., Oldani, L., Romano, R., Roncone, R., Stratta, P., Tenconi, E., Vita, A., Zeppegno, P., Maj, M., Piegari, G., Vignapiano, A., Caputo, F., Plescia, G., Montefusco, V., Mancini, M., Attrotto, M. T., Paladini, V., Atti, A. R., Barlati, S., Galluzzo, A., Mussoni, C., Pinna, F., Sanna, L., Primavera, D., Signorelli, M. S., Minutolo, G., Cannavo, D., Acciavatti, T., Santacroce, R., Corbo, M., Altamura, M., La Montagna, M., Carnevale, R., Pizziconi, G., Rossi, R., Santarelli, V., Giusti, L., Malavolta, M., Salza, A., Murri, M. B., Calcagno, P., Bugliani, M., Serati, M., Orsenigo, G., Gramaglia, C., Gattoni, E., Cattaneo, C., Campagnola, N., Ferronato, L., Piovan, C., Tonna, M., Bettini, E., Ossola, P., Gesi, C., Landi, P., Rutigliano, G., Biondi, M., Girardi, P., Buzzanca, A., Zocconali, M., Comparelli, A., Mancinelli, I., Niolu, C., Ribolsi, M., Siracusano, A., Corrivetti, G., Bartoli, L., Diasco, F., Bolognesi, S., Goracci, A., Fagiolini, A., Bellino, S., Cardillo, S., Bracale, N., and di Giannantonio, M.

Subjects
Attention, MCCB Italian standardization, reasoning and problem solving, social cognition, verbal learning, working memory, Proband, Adult, Male, Consensus, Psychometrics, Context (language use), social cognition, Verbal learning, working memory, 03 medical and health sciences, Attention, MCCB Italian standardization, reasoning and problem solving, verbal learning, Aged, Cognition, Cognitive Dysfunction, Family, Female, Humans, Middle Aged, Outpatients, Psychiatric Status Rating Scales, Schizophrenia, Schizophrenic Psychology, 0302 clinical medicine, Social cognition, medicine, Applied Psychology, Psychiatry and Mental Health, Family aggregation, medicine.disease, 030227 psychiatry, Settore MED/25, Psychology, MATRICS, Neurocognitive, 030217 neurology & neurosurgery, Clinical psychology
Abstract

BackgroundThe increased use of the MATRICS Consensus Cognitive Battery (MCCB) to investigate cognitive dysfunctions in schizophrenia fostered interest in its sensitivity in the context of family studies. As various measures of the same cognitive domains may have different power to distinguish between unaffected relatives of patients and controls, the relative sensitivity of MCCB tests for relative–control differences has to be established. We compared MCCB scores of 852 outpatients with schizophrenia (SCZ) with those of 342 unaffected relatives (REL) and a normative Italian sample of 774 healthy subjects (HCS). We examined familial aggregation of cognitive impairment by investigating within-family prediction of MCCB scores based on probands’ scores.MethodsMultivariate analysis of variance was used to analyze group differences in adjusted MCCB scores. Weighted least-squares analysis was used to investigate whether probands’ MCCB scores predicted REL neurocognitive performance.ResultsSCZ were significantly impaired on all MCCB domains. REL had intermediate scores between SCZ and HCS, showing a similar pattern of impairment, except for social cognition. Proband's scores significantly predicted REL MCCB scores on all domains except for visual learning.ConclusionsIn a large sample of stable patients with schizophrenia, living in the community, and in their unaffected relatives, MCCB demonstrated sensitivity to cognitive deficits in both groups. Our findings of significant within-family prediction of MCCB scores might reflect disease-related genetic or environmental factors.

Published
2018

7. The complex relationship between self-reported 'personal recovery' and clinical recovery in schizophrenia

Author

Rossi, A, Amore, M, Galderisi, S, Rocca, P, Bertolino, A, Aguglia, E, Amodeo, G, Bellomo, A, Bucci, P, Buzzanca, A, Carpiniello, B, Comparelli, A, Dell'Osso, L, Giannantonio, M, Mancini, M, Marchesi, C, Monteleone, P, Montemagni, C, Oldani, L, Roncone, R, Siracusano, A, Stratta, P, Tenconi, E, Vignapiano, A, Vita, A, Zeppegno, P, Maj, M, Rossetti, M, Rossi, R, Santarelli, V, Giusti, L, Malavolta, M, Salza, A, Palumbo, D, Patriarca, S, Chieffi, M, Attrotto, M, Colagiorgio, L, Andriola, I, Atti, A, Barlati, S, Deste, G, Galluzzo, A, Pinna, F, Deriu, L., Sanna, L, Signorelli, M., Minutolo, G, Cannavò, D, Martinotti, G, Acciavatti, T, Corbo, M, Altamura, M, Carnevale, R, Malerba, S, Murri, M, Calcagno, P, Bugliani, M, Serati, M, Bartolomeis, A, Gramaglia, C, Gattoni, E, Gambaro, E, Collantoni, E, Cremonese, C, Rossi, E, Ossola, P, Tonna, M, Panfilis, C, Rutigliano, G, Gesi, C, Carmassi, C, Biondi, M, Girardi, P, Brugnoli, R, Fabio, F, Pietro, S, Girardi, N, Niolu, C, Lorenzo, G, Ribolsi, M, Corrivetti, G, Pinto, G, Longobardi, N, Fagiolini, A, Goracci, A, Bolognesi, S, Bellino, S, Villari, V, Bracale, N, Rossi, A., Amore, M., Galderisi, S., Rocca, P., Bertolino, A., Aguglia, E., Amodeo, G., Bellomo, A., Bucci, P., Buzzanca, A., Carpiniello, B., Comparelli, A., Dell'Osso, L., Giannantonio, M. D., Mancini, M., Marchesi, C., Monteleone, P., Montemagni, C., Oldani, L., Roncone, R., Siracusano, A., Stratta, P., Tenconi, E., Vignapiano, A., Vita, A., Zeppegno, P., Maj, M., Rossetti, M. C., Rossi, R., Santarelli, V., Giusti, L., Malavolta, M., Salza, A., Palumbo, D., Patriarca, S., Chieffi, M., Attrotto, M. T., Colagiorgio, L., Andriola, I., Atti, A. R., Barlati, S., Deste, G., Galluzzo, A., Pinna, F., Deriu, L., Sanna, L., Signorelli, M. S., Minutolo, G., Cannavo, D., Martinotti, G., Acciavatti, T., Corbo, M., Altamura, M., Carnevale, R., Malerba, S., Murri, M. B., Calcagno, P., Bugliani, M., Serati, M., Bartolomeis, A., Gramaglia, C., Gattoni, E., Gambaro, E., Collantoni, E., Cremonese, C., Rossi, E., Ossola, P., Tonna, M., Panfilis, C. D., Rutigliano, G., Gesi, C., Carmassi, C., Biondi, M., Girardi, P., Brugnoli, R., Fabio, F. D., Pietro, S. D., Girardi, N., Niolu, C., Lorenzo, G. D., Ribolsi, M., Corrivetti, G., Pinto, G., Longobardi, N., Fagiolini, A., Goracci, A., Bolognesi, S., Bellino, S., Villari, V., and Bracale, N.

Subjects
Adult, Male, Schizophrenia, Personal recovery, Clinical recovery, Insight, Recovery styles, Cluster analysis, Clinical recovery, Coping (psychology), Cross-sectional study, Recovery style, 03 medical and health sciences, Diagnostic Self Evaluation, 0302 clinical medicine, Cluster analysis, Recovery styles, Insight, Personal recovery, Schizophrenia, Cluster Analysis, Cross-Sectional Studies, Female, Humans, Psychiatric Status Rating Scales, Self Report, Recovery of Function, Schizophrenic Psychology, Cluster analysi, Self report, Settore MED/25 - Psichiatria, Biological Psychiatry, 030227 psychiatry, Psychiatry and Mental Health, Psychiatric status rating scales, Biological psychiatry, Psychology, 030217 neurology & neurosurgery, Clinical psychology
Abstract

Self-reported 'personal recovery' and clinical recovery in schizophrenia (SRPR and CR. respectively) reflect different perspectives in schizophrenia outcome, not necessarily concordant with each other and usually representing the consumer's or the therapist's point of view. By means of a cluster analysis on SRPR related variables, we identified three dusters. The first and third cluster included subjects with the best and the poorest clinical outcome respectively. The second cluster was characterized by better insight, higher levels of depression and stigma, lowest self-esteem and personal strength, and highest emotional coping. The first duster showed positive features of recovery, while the third duster showed negative features. The second cluster, with the most positive insight, showed a more complex pattern, a some-what 'paradoxical' mixture of positive and negative personal and clinical features of recovery. The present results suggest the need for a characterization of persons with schizophrenia along SRPR and CR dimensions to design individualized and integrated treatment programs aimed to improve insight and coping strategies, reduce stigma and shape recovery styles. (C) 2017 Elsevier B.V. All rights reserved.

Published
2018

8. Pathways to functional outcome in subjects with schizophrenia living in the community and their unaffected first-degree relatives

Author

Galderisi, S, Rossi, A, Rocca, P, Bertolino, A, Mucci, A, Bucci, P, Rucci, P, Gibertoni, D, Aguglia, E, Amore, M, Blasi, G, Comparelli, A, Di Giannantonio, M, Goracci, A, Marchesi, C, Monteleone, P, Montemagni, C, Pinna, F, Roncone, R, Siracusano, A, Stratta, P, Torti, M, Vita, A, Zeppegno, P, Chieffi, M, Maj, M, Piegari, G, Merlotti, E, Rocco, M, Campana, T, Plescia, G, Montefusco, V, Porcelli, S, Barlati, S, Carpiniello, B, Signorelli, M, Acciavatti, T, Bellomo, A, Respino, M, Di Emidio, G, Giusti, L, Oldani, L, Tomasetti, C, Tenconi, E, Ossola, P, Dell'Osso, L, Squarcione, C, Brugnoli, R, Niolu, C, Bartoli, L, Bolognesi, S, Frieri, T, Galderisi, Silvana, Rossi, Alessandro, Rocca, Paola, Bertolino, Alessandro, Mucci, Armida, Bucci, Paola, Rucci, Paola, Gibertoni, Dino, Aguglia, Eugenio, Amore, Mario, Blasi, Giuseppe, Comparelli, Anna, Di Giannantonio, Massimo, Goracci, Arianna, Marchesi, Carlo, Monteleone, Palmiero, Montemagni, Cristiana, Pinna, Federica, Roncone, Rita, Siracusano, Alberto, Stratta, Paolo, Torti, Maria Chiara, Vita, Antonio, Zeppegno, Patrizia, Chieffi, Marcello, and Maj, Mario

Subjects
Adult, Employment, Male, medicine.medical_specialty, Social Stigma, Interpersonal relationships, Models, Psychological, Avolition, Cognition, Schizophrenia first-degree relatives, Structural equation model, Work skills, Psychiatry and Mental Health, Biological Psychiatry, 03 medical and health sciences, 0302 clinical medicine, Work skill, Social cognition, medicine, Humans, Family, Genetic Predisposition to Disease, Interpersonal Relations, First-degree relatives, Psychiatry, Settore MED/25 - Psichiatria, Psychiatric Status Rating Scales, Models, Statistical, medicine.disease, Interpersonal relationship, 030227 psychiatry, Psychiatry and Mental health, Schizophrenia, Educational Status, Schizophrenia first-degree relative, Female, Schizophrenic Psychology, medicine.symptom, Biological psychiatry, Psychology, Neurocognitive, 030217 neurology & neurosurgery, Psychopathology, Clinical psychology
Abstract

Rationale Variables influencing real-life functioning have repeatedly been modeled in schizophrenia subjects but not systematically investigated in their unaffected first-degree relatives (SRs), in whom milder forms of deficits reported in schizophrenia have been observed, but confounders of clinical cohorts are not in play. Demonstrating that pathways to functional outcome are similar between patients and SRs would validate structural models developed in schizophrenia subjects. The present multicenter study aimed to explore whether variables associated with real-life functioning are similar in schizophrenia patients and their unaffected relatives. Methods The study sample included 921 schizophrenia patients, 379 SRs and 780 healthy controls. Structural Equation Models (SEMs) were used in patients and SRs to test associations of psychopathological dimensions, neurocognition, social cognition, resilience, perceived stigma and functional capacity with real-life functioning domains, impaired in both patients and SRs. Results Interpersonal Relationships and Work Skills were the only functional domains impaired in both patients and SRs. For both domains, functional impairment in patients was found to predict impairment in unaffected relatives, suggesting the involvement of similar illness-related vulnerability factors. In both groups variables significantly associated with Interpersonal Relationships included Social Cognition, Neurocognition, Avolition, Resilience, Disorganization, Perceived Stigma and Gender, and those significantly associated with Work Skills included Social Cognition, Neurocognition and Disorganization. Conclusions Pathways to functional outcome for Interpersonal relationships and Work skills are similar between schizophrenia patients and their unaffected first-degree relatives. These findings validate, in the absence of confounders of clinical cohorts, structural models of determinants of functional outcome in people with schizophrenia.

Published
2016

9. Social cognition in people with schizophrenia: a cluster-analytic approach

Author

Rocca, P., Galderisi, S., Rossi, A., Bertolino, A., Rucci, P., Gibertoni, D., Montemagni, C., Sigaudo, M., Mucci, A., Bucci, P., Acciavatti, T., Aguglia, E., Amore, M., Bellomo, A., Deronchi, D., Osso, L., Difabio, F., Girardi, P., Goracci, A., Marchesi, C., Monteleone, P., Niolu, C., Pinna, F., Roncone, R., EMILIO SACCHETTI, Santonastaso, P., Zeppegno, P., Maj, M., Chieffi, M., Piegari, M., Vignapiano, A., Merlotti, E., Plescia, G., Montefusco, V., Bava, I., Mancini, I., Sandei, L., Antoniettanettis, I., Rizzo, G., Mancini, M., Porcelli, S., Salfi, G., Bianchini, O., Antonio Vita, Galluzzo, G., Barlati, S., Carpiniello, B., Primavera, D., Floris, S., Salvina, Signorelli, Minutolo, B., Cannavò, G., Corbo, D., Vellante, M., Alessandrini, F., Poli, M., Altamura, M., Petito, M., Marasco, A., Vaggi, D., Calcagno, M., Marozzi, P., Ussorio, V., Giusti, D., Malavolta, L., Diemidio, M., Stratta, G., Collazzoni, P., Debartolomeis, P., Gramaglia, P., Gili, C., Gattoni, S., Ferronato, E., Giannunzio, L., Tenconi, V., Tonna, E., Ossola, M., Camerlengo, P., Landi, E., Rutigliano, P., Buzzanca, G., Paolemili, A., Frascarelli, M., Comparelli, M., Corigliano, A., Brugnoli, V., Siracusano, R., Troisi, A., Dilorenzo, A., Filippo, Di, Longobardi, C., Castaldo, N., Fagiolini, E., Bolognesi, A., Capua, De, A, DIPARTIMENTO DI SCIENZE BIOMEDICHE E NEUROMOTORIE, Facolta' di MEDICINA e CHIRURGIA, AREA MIN. 06 - Scienze mediche, Da definire, Rocca, P, Galderisi, S., Rossi, A., Bertolino, A., Rucci, P., Gibertoni, D., Montemagni, C., Sigaudo, M., Mucci, A., Bucci, P., Acciavatti, T., Aguglia, E., Amore, M., Bellomo, A., De Ronchi, D., Dell'Osso, L., Di Fabio, F., Girardi, P., Goracci, A., Marchesi, C., Monteleone, P., Niolu, C., Pinna, F., Roncone, R., Sacchetti, E., Santonastaso, P., Zeppegno, P., Maj, M., Rocca, P., Chieffi, M., Piegari, M., Vignapiano, A., Merlotti, E., Plescia, G., Montefusco, V., Bava, I., Mancini, I., Sandei, L., Antonietta Nettis, I., Rizzo, G., Mancini, M., Porcelli, S., Salfi, G., Bianchini, O., Vita, A., Galluzzo, G., Barlati, S., Carpiniello, B., Primavera, D., Floris, S., Salvina Signorelli, B., Minutolo, G., Cannavo, D., Corbo, M., Vellante, F., Alessandrini, M., Poli, M., Altamura, M., Petito, A., Marasco, D., Vaggi, M., Calcagno, P., Marozzi, V., Ussorio, D., Giusti, L., Malavolta, M., Di Emidio, G., Stratta, P., Collazzoni, P., De Bartolomeis, P., Gramaglia, C., Gili, S., Gattoni, E., Ferronato, L., Giannunzio, V., Tenconi, E., Tonna, M., Ossola, P., Camerlengo, E., Landi, P., Rutigliano, G., Buzzanca, A., Paolemili, M., Frascarelli, M., Comparelli, A., Corigliano, V., Brugnoli, R., Siracusano, A., Troisi, A., Di Lorenzo, G., Di Filippo, C., Longobardi, N., Castaldo, E., Fagiolini, A., Bolognesi, S., De Capua, A., and Italian Network for Research on, Psychoses

Subjects
Adult, Male, Context (language use), social cognition, Italian Network for Research on Psychoses, 03 medical and health sciences, 0302 clinical medicine, Cluster analysis, Social cognition, Emotion perception, medicine, schizophrenia, theory of mind, Cluster Analysis, Emotional Intelligence, Facial Recognition, Female, Humans, Middle Aged, Schizophrenia, Facial Expression, Social Perception, Wit and Humor as Topic, Applied Psychology, Psychiatry and Mental Health, Cluster analysis Italian Network for Research on Psychosesschizophrenia social cognition theory of mind, Cluster analysi, Italian Network for Research on Psychose, Settore MED/25 - Psichiatria, Facial expression, Social perception, Emotional intelligence, medicine.disease, cluster analysis, italian network for research on psychoses, adult, emotional intelligence, facial recognition, female, humans, male, middle aged, facial expression, social perception, wit and humor as topic, applied psychology, psychiatry and mental health, 030227 psychiatry, Psychology, Neurocognitive, 030217 neurology & neurosurgery, Clinical psychology
Abstract

none 28 no BACKGROUND: The study aimed to subtype patients with schizophrenia on the basis of social cognition (SC), and to identify cut-offs that best discriminate among subtypes in 809 out-patients recruited in the context of the Italian Network for Research on Psychoses. METHOD: A two-step cluster analysis of The Awareness of Social Inference Test (TASIT), the Facial Emotion Identification Test and Mayer-Salovey-Caruso Emotional Intelligence Test scores was performed. Classification and regression tree analysis was used to identify the cut-offs of variables that best discriminated among clusters. RESULTS: We identified three clusters, characterized by unimpaired (42%), impaired (50.4%) and very impaired (7.5%) SC. Three theory-of-mind domains were more important for the cluster definition as compared with emotion perception and emotional intelligence. Patients more able to understand simple sarcasm (⩾14 for TASIT-SS) were very likely to belong to the unimpaired SC cluster. Compared with patients in the impaired SC cluster, those in the very impaired SC cluster performed significantly worse in lie scenes (TASIT-LI

Published
2016

10. Accuracy of self-assessment of real-life functioning in schizophrenia

Author

Rocca, Paola, Brasso, Claudio, Montemagni, Cristiana, Bellino, Silvio, Rossi, Alessandro, Bertolino, Alessandro, Gibertoni, Dino, Aguglia, Eugenio, Amore, Mario, Andriola, Ileana, Bellomo, Antonello, Bucci, Paola, Buzzanca, Antonino, Carpiniello, Bernardo, Cuomo, Alessandro, Dell'Osso, Liliana, Favaro, Angela, Giordano, Giulia Maria, Marchesi, Carlo, Monteleone, Palmiero, Oldani, Lucio, Pompili, Maurizio, Roncone, Rita, Rossi, Rodolfo, Siracusano, Alberto, Vita, Antonio, Zeppegno, Patrizia, Galderisi, Silvana, Maj, Mario, Bozzatello, Paola, Badino, Cristina, Giordano, Benedetta, Di Palo, Piergiuseppe, Calia, Vitalba, Papalino, Marco, Barlati, Stefano, Deste, Giacomo, Ceraso, Anna, Pinna, Federica, Olivieri, Benedetta, Manca, Daniela, Piegari, Giuseppe, Brando, Francesco, Giuliani, Luigi, Aiello, Carmen, Fusar Poli, Laura, Concerto, Carmen, Surace, Teresa, Altamura, Mario, Malerba, Stefania, Padalino, Flavia, Calcagno, Pietro, Belvederi Murri, Martino, Amerio, Andrea, Pacitti, Francesca, Socci, Valentina, Lucaselli, Alessia, Giusti, Laura, Salza, Anna, Ussorio, Donatella, Iasevoli, Felice, Gramaglia, Carla, Gambaro, Eleonora, Gattoni, Eleonora, Tenconi, Elena, Collantoni, Enrico, Meneguzzo, Paolo, Ossola, Paolo, Tonna, Matteo, Gerra, Maria Lidia, Carmassi, Claudia, Carpita, Barbara, Cremone, Ivan Mirko, Corrivetti, Giulio, Cascino, Giammarco, Marciello, Francesca, Brugnoli, Roberto, Comparelli, Anna, Corigliano, Valentina, Girardi, Nicoletta, Accinni, Tommaso, Carlone, Luca, Fagiolini, Andrea, Goracci, Arianna, Bolognesi, Simone, Di Lorenzo, Giorgio, Niolu, Cinzia, Ribolsi, Michele, Rocca, P., Brasso, C., Montemagni, C., Bellino, S., Rossi, A., Bertolino, A., Gibertoni, D., Aguglia, E., Amore, M., Andriola, I., Bellomo, A., Bucci, P., Buzzanca, A., Carpiniello, B., Cuomo, A., Dell'Osso, L., Favaro, A., Giordano, G. M., Marchesi, C., Monteleone, P., Oldani, L., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Vita, A., Zeppegno, P., Galderisi, S., Maj, M., Bozzatello, P., Badino, C., Giordano, B., Di Palo, P., Calia, V., Papalino, M., Barlati, S., Deste, G., Ceraso, A., Pinna, F., Olivieri, B., Manca, D., Piegari, G., Brando, F., Giuliani, L., Aiello, C., Poli, L. F., Concerto, C., Surace, T., Altamura, M., Malerba, S., Padalino, F., Calcagno, P., Murri, M. B., Amerio, A., Pacitti, F., Socci, V., Lucaselli, A., Giusti, L., Salza, A., Ussorio, D., Iasevoli, F., Gramaglia, C., Gambaro, E., Gattoni, E., Tenconi, E., Collantoni, E., Meneguzzo, P., Ossola, P., Tonna, M., Gerra, M. L., Carmassi, C., Carpita, B., Cremone, I. M., Corrivetti, G., Cascino, G., Marciello, F., Brugnoli, R., Comparelli, A., Corigliano, V., Girardi, N., Accinni, T., Carlone, L., Fagiolini, A., Goracci, A., Bolognesi, S., Di Lorenzo, G., Niolu, C., Ribolsi, M., Rocca P., Brasso C., Montemagni C., Bellino S., Rossi A., Bertolino A., Gibertoni D., Aguglia E., Amore M., Andriola I., Bellomo A., Bucci P., Buzzanca A., Carpiniello B., Cuomo A., Dell'Osso L., Favaro A., Giordano G.M., Marchesi C., Monteleone P., Oldani L., Pompili M., Roncone R., Rossi R., Siracusano A., Vita A., Zeppegno P., Galderisi S., Maj M., Bozzatello P., Badino C., Giordano B., Di Palo P., Calia V., Papalino M., Barlati S., Deste G., Ceraso A., Pinna F., Olivieri B., Manca D., Piegari G., Brando F., Giuliani L., Aiello C., Poli L.F., Concerto C., Surace T., Altamura M., Malerba S., Padalino F., Calcagno P., Murri M.B., Amerio A., Pacitti F., Socci V., Lucaselli A., Giusti L., Salza A., Ussorio D., Iasevoli F., Gramaglia C., Gambaro E., Gattoni E., Tenconi E., Collantoni E., Meneguzzo P., Ossola P., Tonna M., Gerra M.L., Carmassi C., Carpita B., Cremone I.M., Corrivetti G., Cascino G., Marciello F., Brugnoli R., Comparelli A., Corigliano V., Girardi N., Accinni T., Carlone L., Fagiolini A., Goracci A., Bolognesi S., Di Lorenzo G., Niolu C., and Ribolsi M.

Subjects
Self-assessment, medicine.medical_treatment, Concordance, RC435-571, schizophrenia, real-life functioning, reliability, Article, Correlation, 03 medical and health sciences, Interpersonal relationship, 0302 clinical medicine, medicine, 030212 general & internal medicine, Self-assessment, schizophrenia, diagnosis, Psychiatry, Rehabilitation, medicine.disease, Psychosis, 030227 psychiatry, Psychiatry and Mental health, Settore MED/25, Schizophrenia, Cohort, Work Skills, Psychology, Clinical psychology
Abstract

A consensus has not yet been reached regarding the accuracy of people with schizophrenia in self-reporting their real-life functioning. In a large (n = 618) cohort of stable, community-dwelling schizophrenia patients we sought to: (1) examine the concordance of patients’ reports of their real-life functioning with the reports of their key caregiver; (2) identify which patient characteristics are associated to the differences between patients and informants. Patient-caregiver concordance of the ratings in three Specific Level of Functioning Scale (SLOF) domains (interpersonal relationships, everyday life skills, work skills) was evaluated with matched-pair t tests, the Lin’s concordance correlation, Somers’ D, and Bland–Altman plots with limits of agreement (LOA). Predictors of the patient-caregiver differences in SLOF ratings were assessed with a linear regression with multivariable fractional polynomials. Patients’ self-evaluation of functioning was higher than caregivers’ in all the evaluated domains of the SLOF and 17.6% of the patients exceeded the LOA, thus providing a self-evaluation discordant from their key caregivers. The strongest predictors of patient-caregiver discrepancies were caregivers’ ratings in each SLOF domain. In clinically stable outpatients with a moderate degree of functional impairment, self-evaluation with the SLOF scale can become a useful, informative and reliable clinical tool to design a tailored rehabilitation program.

Published
2021

11. The interplay among psychopathology, personal resources, context-related factors and real-life functioning in schizophrenia: stability in relationships after 4 years and differences in network structure between recovered and non-recovered patients

Author

Galderisi, Silvana, Rucci, Paola, Mucci, Armida, Rossi, Alessandro, Rocca, Paola, Bertolino, Alessandro, Aguglia, Eugenio, Amore, Mario, Bellomo, Antonello, Bozzatello, Paola, Bucci, Paola, Carpiniello, Bernardo, Collantoni, Enrico, Cuomo, Alessandro, Dell'Osso, Liliana, Di Fabio, Fabio, di Giannantonio, Massimo, Gibertoni, Dino, Giordano, Giulia Maria, Marchesi, Carlo, Monteleone, Palmiero, Oldani, Lucio, Pompili, Maurizio, Roncone, Rita, Rossi, Rodolfo, Siracusano, Alberto, Vita, Antonio, Zeppegno, Patrizia, Maj, Mario, Italian Network for Research on Psychoses, Francesco, Catapano, Giuseppe, Piegari, Carmen, Aiello, Francesco, Brando, Luigi, Giuliani, Daria, Pietrafesa, Marco, Papalino, Giovanni, Mercadante, Piergiuseppe, Di Palo, Stefano, Barlati, Giacomo, Deste, Paolo, Valsecchi, Federica, Pinna, Benedetta, Olivieri, Daniela, Manca, Maria Salvina, Signorelli, Laura, Fusar Poli, Domenico, De Berardis, Silvia, Fraticelli, Mariangela, Corbo, Stefano, Pallanti, Mario, Altamura, Raffaella, Carnevale, Stefania, Malerba, Pietro, Calcagno, Domenico, Zampogna, Alessandro, Corso, Giusti, Laura, Salza, Anna, Ussorio, Donatella, Talevi, Dalila, Socci, Valentina, Pacitti, Francesca, Andrea, de Bartolomeis, Carla, Gramaglia, Eleonora, Gambaro, Eleonora, Gattoni, Angela, Favaro, Elena, Tenconi, Paolo, Meneguzzo, Matteo, Tonna, Paolo, Ossola, Maria Lidia, Gerra, Claudia, Carmassi, Ivan, Cremone, Barbara, Carpita, Nicoletta, Girardi, Marianna, Frascarelli, Antonio, Buzzanca, Roberto, Brugnoli, Anna, Comparelli, Valentina, Corigliano, Giorgio, Di Lorenzo, Cinzia, Niolu, Michele, Ribolsi, Giulio, Corrivetti, Giammarco, Cascino, Gianfranco, del Buono, Simone, Bolognesi, Andrea, Fagiolini, Arianna, Goracci, Silvio, Bellino, Cristiana, Montemagni, Claudio, Brasso, Galderisi, S., Rucci, P., Mucci, A., Rossi, A., Rocca, P., Bertolino, A., Aguglia, E., Amore, M., Bellomo, A., Bozzatello, P., Bucci, P., Carpiniello, B., Collantoni, E., Cuomo, A., Dell'Osso, L., Di Fabio, F., Di Giannantonio, M., Gibertoni, D., Giordano, G. M., Marchesi, C., Monteleone, P., Oldani, L., Pompili, M., Roncone, R., Rossi, R., Siracusano, A., Vita, A., Zeppegno, P., Maj, M., Catapano, F., Piegari, G., Aiello, C., Brando, F., Giuliani, L., Pietrafesa, D., Papalino, M., Mercadante, G., Di Palo, P., Barlati, S., Deste, G., Valsecchi, P., Pinna, F., Olivieri, B., Manca, D., Signorelli, M. S., Poli, L. F., De Berardis, D., Fraticelli, S., Corbo, M., Pallanti, S., Altamura, M., Carnevale, R., Malerba, S., Calcagno, P., Zampogna, D., Corso, A., Giusti, L., Salza, A., Ussorio, D., Talevi, D., Socci, V., Pacitti, F., de Bartolomeis, A., Gramaglia, C., Gambaro, E., Gattoni, E., Favaro, A., Tenconi, E., Meneguzzo, P., Tonna, M., Ossola, P., Gerra, M. L., Carmassi, C., Cremone, I., Carpita, B., Girardi, N., Frascarelli, M., Buzzanca, A., Brugnoli, R., Comparelli, A., Corigliano, V., Di Lorenzo, G., Niolu, C., Ribolsi, M., Corrivetti, G., Cascino, G., Del Buono, G., Bolognesi, S., Fagiolini, A., Goracci, A., Bellino, S., Montemagni, C., Brasso, C., di Giannantonio, M., Fusar Poli, L., del Buono, G., Galderisi S., Rucci P., Mucci A., Rossi A., Rocca P., Bertolino A., Aguglia E., Amore M., Bellomo A., Bozzatello P., Bucci P., Carpiniello B., Collantoni E., Cuomo A., Dell'osso L., Di Fabio F., Di Giannantonio M., Gibertoni D., Giordano G.M., Marchesi C., Monteleone P., Oldani L., Pompili M., Roncone R., Rossi R., Siracusano A., Vita A., Zeppegno P., Maj M., Catapano F., Piegari G., Aiello C., Brando F., Giuliani L., Pietrafesa D., Papalino M., Mercadante G., Di Palo P., Barlati S., Deste G., Valsecchi P., Pinna F., Olivieri B., Manca D., Signorelli M.S., Poli L.F., De Berardis D., Fraticelli S., Corbo M., Pallanti S., Altamura M., Carnevale R., Malerba S., Calcagno P., Zampogna D., Corso A., Giusti L., Salza A., Ussorio D., Talevi D., Socci V., Pacitti F., de Bartolomeis A., Gramaglia C., Gambaro E., Gattoni E., Favaro A., Tenconi E., Meneguzzo P., Tonna M., Ossola P., Gerra M.L., Carmassi C., Cremone I., Carpita B., Girardi N., Frascarelli M., Buzzanca A., Brugnoli R., Comparelli A., Corigliano V., Di Lorenzo G., Niolu C., Ribolsi M., Corrivetti G., Cascino G., Del Buono G., Bolognesi S., Fagiolini A., Goracci A., Bellino S., Montemagni C., and Brasso C.

Subjects
Schizophrenia, everyday life skills, functional capacity, internalized stigma, network analysis, personal resources, psychopathology, real-life functioning, recovery, Closeness, Context (language use), 03 medical and health sciences, 0302 clinical medicine, Betweenness centrality, medicine, network analysi, Everyday life, Baseline (configuration management), personal resource, Research Reports, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Settore MED/25, everyday life skill, Pshychiatric Mental Health, Psychology, Centrality, 030217 neurology & neurosurgery, Psychopathology, Clinical psychology
Abstract

Improving real-life functioning is the main goal of the most advanced integrated treatment programs in people with schizophrenia. The Italian Network for Research on Psychoses previously explored, by using network analysis, the interplay among illness-related variables, personal resources, context-related factors and real-life functioning in a large sample of patients with schizophrenia. The same research network has now completed a 4-year follow-up of the original sample. In the present study, we used network analysis to test whether the pattern of relationships among all variables investigated at baseline was similar at follow-up. In addition, we compared the network structure of patients who were classified as recovered at follow-up versus those who did not recover. Six hundred eighteen subjects recruited at baseline could be assessed in the follow-up study. The network structure did not change significantly from baseline to follow-up, and the overall strength of the connections among variables increased slightly, but not significantly. Functional capacity and everyday life skills had a high betweenness and closeness in the network at follow-up, as they had at baseline, while psychopathological variables remained more peripheral. The network structure and connectivity of non-recovered patients were similar to those observed in the whole sample, but very different from those in recovered subjects, in which we found few connections only. These data strongly suggest that tightly coupled symptoms/dysfunctions tend to maintain each other's activation, contributing to poor outcome in schizophrenia. Early and integrated treatment plans, targeting variables with high centrality, might prevent the emergence of self-reinforcing networks of symptoms and dysfunctions in people with schizophrenia.

Published
2020

12. Interplay Among Psychopathologic Variables, Personal Resources, Context-Related Factors, and Real-life Functioning in Individuals With Schizophrenia: A Network Analysis

Author

Galderisi, Silvana, Rucci, Paola, Kirkpatrick, Brian, Mucci, Armida, Gibertoni, Dino, Della Rocca, Paola, Rossi, Alessandro, Bertolino, Alessandro, Strauss, Gregory P., Aguglia, Eugenio, Bellomo, Antonello, Murri, Martino Belvederi, Bucci, Paola, Carpiniello, Bernardo, Comparelli, Anna, Cuomo, Alessandro, De Berardis, Domenico, Dell'Osso, Liliana, Di Fabio, Fabio, Gelao, Barbara, Marchesi, Carlo, Monteleone, Palmiero, Montemagni, Cristiana, Orsenigo, Giulia, Pacitti, Francesca, Roncone, Rita, Santonastaso, Paolo, Siracusano, Alberto, Vignapiano, Annarita, Vita, Antonio, Zeppegno, Patrizia, Maj, Mario, Italian Network for Research on Psychoses, Aiello, Carmen, Molle, Debora, Nicita, Alessia, Patriarca, Sara, Pietrafesa, Daria, Longo, Luisa, Falsetti, Andrea, Barone, Marina, Galluzzo, Alessandro, Barlati, Stefano, Deste, Giacomo, Pinna, Federica, Primavera, Diego, Sanna, Lucia, Signorelli, Maria, Minutolo, Giuseppe, Cannavò, Dario, Corbo, Mariangela, Baroni, Gaia, Montemitro, Chiara, Altamura, Mario, La Montagna, Maddalena, Carnevale, Raffaella, Amore, Mario, Calcagno, Pietro, Bugliani, Michele, Parnanzone, Serena, Rossi, Rodolfo, Serrone, Dario, Giusti, Laura, Malavolta, Maurizio, Salza, Anna, Caldiroli, Alice, Mandolini, Gianmario, De Carlo, Vera, de Bartolomeis, Andrea, Gramaglia, Carla, Marangon, Debora, Prosperini, Pierluigi, Pierluigi, Elena, Meneguzzo, Paolo, Giannunzio, Valeria, Tonna, Matteo, Ossola, Paolo, Lidia Gerra, Maria, Gesi, Camilla, Mirko Cremone, Ivan, Carpita, Barbara, Brugnoli, Roberto, Del Casale, Antonio, Corigliano, Valentina, Biondi, Massimo, Zocconali, Monica, Buzzanca, Antonino, Corrivetti, Giulio, Pinto, Gaetano, Diasco, Ferdinando, Fagiolini, Andrea, Goracci, Arianna, Bolognesi, Simone, Niolu, Cinzia, Di Lorenzo, Giorgio, Ribolsi, Michele, Mancini, Irene, Brasso, Claudio, Bozzatello, Paola, Galderisi, Silvana, Rucci, Paola, Kirkpatrick, Brian, Mucci, Armida, Gibertoni, Dino, Rocca, Paola, Rossi, Alessandro, Bertolino, Alessandro, Strauss, Gregory P., Aguglia, Eugenio, Bellomo, Antonello, Murri, Martino Belvederi, Bucci, Paola, Carpiniello, Bernardo, Comparelli, Anna, Cuomo, Alessandro, De Berardis, Domenico, Dell'Osso, Liliana, Di Fabio, Fabio, Gelao, Barbara, Marchesi, Carlo, Monteleone, Palmiero, Montemagni, Cristiana, Orsenigo, Giulia, Pacitti, Francesca, Roncone, Rita, Santonastaso, Paolo, Siracusano, Alberto, Vignapiano, Annarita, Vita, Antonio, Zeppegno, Patrizia, Maj, Mario, Aiello, C., Molle, D., Nicita, A., Patriarca, Paola, Pietrafesa, D., Longo, L., Falsetti, A., Barone, M., Galluzzo, A., Barlati, S., Deste, G., Pinna, F., Primavera, D., Sanna, L., Signorelli, M., Minutolo, G., Cannavò, D., Corbo, M., Baroni, G., Montemitro, C., Altamura, M., La Montagna, M., Carnevale, R., Amore, M., Calcagno, P., Bugliani, M., Parnanzone, S., Rossi, R., Serrone, D., Giusti, L., Malavolta, M., Salza, A., Caldiroli, A., Mandolini, G., De Carlo, V., de Bartolomeis, A., Gramaglia, C., Marangon, D., Prosperini, P., Pierluigi, E., Meneguzzo, P., Giannunzio, V., Tonna, M., Ossola, P., Gerra, M. L., Gesi, C., Cremone, I. M., Carpita, B., Brugnoli, R., Del Casale, A., Corigliano, V., Biondi, M., Zocconali, M., Buzzanca, A., Corrivetti, G., Pinto, G., Diasco, F., Fagiolini, A., Goracci, A., Bolognesi, S., Niolu, C., Di Lorenzo, G., Ribolsi, M., Mancini, I., Brasso, C., Bozzatello, P., Strauss, Gregory P, Galderisi, S., Rucci, P., Kirkpatrick, B., Mucci, A., Gibertoni, D., Rocca, P., Rossi, A., Bertolino, A., Strauss, G. P., Aguglia, E., Bellomo, A., Murri, M. B., Bucci, P., Carpiniello, B., Comparelli, A., Cuomo, A., De Berardis, D., Dell'Osso, L., Di Fabio, F., Gelao, B., Marchesi, C., Monteleone, P., Montemagni, C., Orsenigo, G., Pacitti, F., Roncone, R., Santonastaso, P., Siracusano, A., Vignapiano, A., Vita, A., Zeppegno, P., Maj, M., Patriarca, S., and Cannavo, D.

Subjects
Hospitals, Psychiatric, Male, Network Meta-Analysis, Social Environment, Hospitals, University, 0302 clinical medicine, Activities of Daily Living, Everyday life, Correlation of Data, Original Investigation, Psychopathology, Cognition, Middle Aged, Network Meta-Analysi, Hospitals, Psychiatry and Mental Health, Psychiatric Department, Social competence, Female, Schizophrenic Psychology, medicine.symptom, Psychology, Psychosocial, Social Adjustment, Clinical psychology, Human, Antipsychotic Agents, Adult, Psychiatric Department, Hospital, NO, 03 medical and health sciences, Hospital, Social cognition, medicine, Humans, Settore MED/25 - Psichiatria, Avolition, Cross-Sectional Studie, University, Mental health, Cross-Sectional Studies, Schizophrenia, Socioeconomic Factors, 030227 psychiatry, Antipsychotic Agent, Question How are real-life functioning, psychopathologic variables, cognition, personal resources, and sociodemographic variables connected to each other in community-dwelling individuals with schizophrenia? Findings In this network analysis of 740 individuals with schizophrenia, functional capacity and everyday life skills were the most central and interconnected nodes, while positive symptoms were the least interconnected nodes. Real-life functioning was connected with several variables belonging to different domains. Meaning The high centrality of functional capacity and everyday life skills suggests that improving the ability to perform tasks relevant to everyday life is critical for any therapeutic intervention in schizophrenia, and the pattern of network node connections supports the implementation of personalized interventions for individuals with schizophrenia, Psychiatric, Work Skills, 030217 neurology & neurosurgery
Abstract

Importance Enhanced understanding of factors associated with symptomatic and functional recovery is instrumental to designing personalized treatment plans for people with schizophrenia. To date, this is the first study using network analysis to investigate the associations among cognitive, psychopathologic, and psychosocial variables in a large sample of community-dwelling individuals with schizophrenia. Objective To assess the interplay among psychopathologic variables, cognitive dysfunctions, functional capacity, personal resources, perceived stigma, and real-life functioning in individuals with schizophrenia, using a data-driven approach. Design, Setting, and Participants This multicenter, cross-sectional study involved 26 university psychiatric clinics and/or mental health departments. A total of 921 community-dwelling individuals with a DSM-IV diagnosis of schizophrenia who were stabilized on antipsychotic treatment were recruited from those consecutively presenting to the outpatient units of the sites between March 1, 2012, and September 30, 2013. Statistical analysis was conducted between July 1 and September 30, 2017. Main Outcomes and Measures Measures covered psychopathologic variables, neurocognition, social cognition, functional capacity, real-life functioning, resilience, perceived stigma, incentives, and service engagement. Results Of 740 patients (221 women and 519 men; mean [SD] age, 40.0 [10.9] years) with complete data on the 27 study measures, 163 (22.0%) were remitted (with a score of mild or better on 8 core symptoms). The network analysis showed that functional capacity and everyday life skills were the most central and highly interconnected nodes in the network. Psychopathologic variables split in 2 domains, with positive symptoms being one of the most peripheral and least connected nodes. Functional capacity bridged cognition with everyday life skills; the everyday life skills node was connected to disorganization and expressive deficits. Interpersonal relationships and work skills were connected to avolition; the interpersonal relationships node was also linked to social competence, and the work skills node was linked to social incentives and engagement with mental health services. A case-dropping bootstrap procedure showed centrality indices correlations of 0.75 or greater between the original and randomly defined samples up to 481 of 740 case-dropping (65.0%). No difference in the network structure was found between men and women. Conclusions and Relevance The high centrality of functional capacity and everyday life skills in the network suggests that improving the ability to perform tasks relevant to everyday life is critical for any therapeutic intervention in schizophrenia. The pattern of network node connections supports the implementation of personalized interventions.

Published
2018

13. Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements

Author

Piluso, Giulio, Monteleone, Palmiero, Galderisi, Silvana, Giugliano, Teresa, Bertolino, Alessandro, Rocca, Paola, Rossi, Alessandro, Mucci, Armida, Aguglia, Eugenio, Andriola, Ileana, Bellomo, Antonello, Comparelli, Anna, Gambi, Francesco, Fagiolini, Andrea, Marchesi, Carlo, Roncone, Rita, Sacchetti, Emilio, Santonastaso, Paolo, Siracusano, Alberto, Stratta, Paolo, Tortorella, Alfonso, Steardo, Luca Jr, Bucci, Paola, Nigro, Vincenzo, Maj, Mario, Italian Network for Research on Psychoses, Montefusco, Valentina, Plescia, Giuseppe, Piegari, Giuseppe, Merlotti, Eleonora, Cimmino, Monica, Savarese, Marco, D’Ambrosio, Enrico, Atti, Anna Rita, Valsecchi, Paolo, Signorelli, Maria Salvina, Acciavatti, Tiziano, Altamura, Mario, Arzani, Costanza, Callista, Gaetano, Pacitti, Francesca, Oldani, Lucio, Gramaglia, Carla, Tenconi, Elena, Camerlengo, Annalisa, Dell’Osso, Liliana, Brugnoli, Roberto, Di Fabio, Fabio, Niolu, Cinzia, Corrivetti, Giulio, Bolognesi, Simone, Montemagni, Cristina, Piluso, G., Monteleone, P., Galderisi, S., Giugliano, T., Bertolino, A., Rocca, P., Rossi, A., Mucci, A., Aguglia, E., Andriola, I., Bellomo, A., Comparelli, A., Gambi, F., Fagiolini, A., Marchesi, C., Roncone, R., Sacchetti, E., Santonastaso, P., Siracusano, A., Stratta, P., Tortorella, A., Steardo, L., Bucci, P., Nigro, V., Maj, M., Montefusco, V., Plescia, G., Piegari, G., Merlotti, E., Cimmino, M., Savarese, M., D'Ambrosio, E., Atti, A. R., Valsecchi, P., Signorelli, M. S., Acciavatti, T., Altamura, M., Arzani, Costanza., Callista, G., Pacitti, F., Oldani, L., Gramaglia, C., Tenconi, E., Camerlengo, A., Dell'Osso, L., Brugnoli, R., Di Fabio, F., Niolu, C., Corrivetti, G., Bolognesi, S., and Montemagni, C.

Subjects
family trios, Adult, Male, DNA Copy Number Variations, Schizophrenia (object-oriented programming), Schizophrenia, de novo CNV, enhancers, genetics, Schizophrenia, genetics, enhancers, de novo CNV, family trios, family trio, Biology, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, mental disorders, Humans, Genetic Predisposition to Disease, Copy-number variation, Enhancer, Gene, Biological Psychiatry, Enhancer Elements, Genetics, Middle Aged, 030227 psychiatry, Enhancer Elements, Genetic, Settore MED/25, Italy, Psychiatry and Mental Health, Mutation, Female, enhancer, genetic, Biological psychiatry
Abstract

Objectives: Variants appearing de novo in genes regulating key neurodevelopmental processes and/or in non-coding cis-regulatory elements (CREs), as enhancers, may increase the risk for schizophrenia. However, CREs involvement in schizophrenia needs to be explored more deeply. Methods: We investigated de novo copy-number variations (CNVs) in the whole-genomic DNA obtained from 46 family trios of schizophrenia probands by using the Enhancer Chip, a customised array CGH able to investigate the whole genome with a 300-kb resolution, specific disease loci at a ten-fold higher resolution, and which was highly enriched in probes in more than 1,250 enhancer elements selected from Vista Enhancer Browser. Results: In seven patients, we found de novo CNVs, two of which overlapped VISTA enhancer elements. De novo CNVs encompass genes (CNTNAP2, MAGI1, TSPAN7 and MET) involved in brain development, while that involving the enhancer element hs1043, also includes ZIC1, which plays a role in neural development and is responsible of behavioural abnormalities in Zic mutant mice. Conclusions: These findings provide further evidence for the involvement of de novo CNVs in the pathogenesis of schizophrenia and suggest that CNVs affecting regulatory enhancer elements could contribute to the genetic vulnerability to the disorder.

Published
2017

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