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1. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Author

Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. Results: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

Published
2023

2. Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Author

Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Bovis, Francesca, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria, Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Catteruccia, Michela, Cicala, Gianpaolo, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Capasso, Anna, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bissoli, Claudio Bruno, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Coratti, Giorgia (ORCID:0000-0001-6666-5628), Bruno, Claudio, Bertini, Enrico, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Pane, Marika, Coratti, Giorgia, Brogna, Claudia, Bovis, Francesca, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria, Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Catteruccia, Michela, Cicala, Gianpaolo, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Capasso, Anna, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bissoli, Claudio Bruno, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico Silvio, Politano, Luisa, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Coratti, Giorgia (ORCID:0000-0001-6666-5628), Bruno, Claudio, Bertini, Enrico, and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Background: The performance of upper limb 2.0 (PUL) is widely used to assess upper limb function in DMD patients. The aim of the study was to assess 24 month PUL changes in a large cohort of DMD patients and to establish whether domains changes occur more frequently in specific functional subgroups. Methods: The PUL was performed in 311 patients who had at least one pair of assessments at 24 months, for a total of 808 paired assessments. Ambulant patients were subdivided according to the ability to walk: >350, 250-350, =250 meters. Non ambulant patients were subdivided according to the time since they lost ambulation: <1, 1-2, 2-5 or >5 years. Results: At 12 months, the mean PUL 2.0 change on all the paired assessments was -1.30 (-1.51-1.05) for the total score, -0.5 (-0.66-0.39) for the shoulder domain, -0.6 (-0.74-0.5) for the elbow domain and -0.1 (-0.20-0.06) for the distal domain. At 24 months, the mean PUL 2.0 change on all the paired assessments was -2.9 (-3.29-2.60) for the total score, -1.30 (-1.47-1.09) for the shoulder domain, -1.30 (-1.45-1.11) for the elbow domain and -0.4 (-1.48--1.29) for the distal domain. Changes at 12 and 24 months were statistically significant between subgroups with different functional abilities for the total score and each domain (p < 0.001). Conclusion: There were different patterns of changes among the functional subgroups in the individual domains. The time of transition, including the year before and after loss of ambulation, show the peak of negative changes in PUL total scores that reflect not only loss of shoulder but also of elbow activities. These results suggest that patterns of changes should be considered at the time of designing clinical trials.

Published
2023

3. Comorbidity prevalence and treatment outcome in children and adolescents with ADHD

Author

Reale, Laura, Bartoli, Beatrice, Cartabia, Massimo, Zanetti, Michele, Costantino, Maria Antonella, Canevini, Maria Paola, Termine, Cristiano, Bonati, Maurizio, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Salandi, Antonio, Trabattoni, Sara, Effedri, Paola, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Ricotta, Ernesta, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Bissoli, Claudio, Bonati, Maurizio, Canevini, Maria Paola, Cartabia, Massimo, Costantino, Maria Antonella, Cropanese, Isabella, Fornaro, Emiddio, Merati, Silvia, Ottolini, Alberto, Reale, Laura, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Valentino, Alessandra, Zanetti, Michele, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, Pavone, Francesca, Rossi, Giorgio, Termine, Cristiano, and on behalf of Lombardy ADHD Group

Published
2017
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4. Genetic modifiers of upper limb function in Duchenne muscular dystrophy

Author

Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D'Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P, Panicucci, Chiara, Bissoli, Claudio Bruno, D'Amico, Adele, Bertini, Enrico Silvio, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio Maria, Hoffman, Eric P, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Mcdonald, Craig M, Bello, Luca, Pegoraro, Elena, Bruno, Claudio, Bertini, Enrico, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, D'Angelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo P, Panicucci, Chiara, Bissoli, Claudio Bruno, D'Amico, Adele, Bertini, Enrico Silvio, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano C, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio Maria, Hoffman, Eric P, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Mcdonald, Craig M, Bello, Luca, Pegoraro, Elena, Bruno, Claudio, Bertini, Enrico, Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Genetic modifiers of Duchenne muscular dystrophy (DMD) are variants located in genes different from the disease-causing gene DMD, but associated with differences in disease onset, progression, or response to treatment. Modifiers described so far have been tested mainly for associations with ambulatory function, while their effect on upper limb function, which is especially relevant for quality of life and independence in non-ambulatory patients, is unknown. We tested genotypes at several known modifier loci (SPP1, LTBP4, CD40, ACTN3) for association with Performance Upper Limb version 1.2 score in an Italian multicenter cohort, and with Brooke scale score in the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS), using generalized estimating equation (GEE) models of longitudinally collected data, with age and glucocorticoid treatment as covariates. CD40 rs1883832, previously linked to earlier loss of ambulation, emerged as a modifier of upper limb function, negatively affecting shoulder and distal domains of PUL (p = 0.023 and 0.018, respectively) in the Italian cohort, as well as of Brooke score (p = 0.018) in the CINRG-DNHS. These findings will be useful for the design and interpretation of clinical trials in DMD, especially for non-ambulatory populations.

Published
2022

5. Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Author

Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Coratti, Giorgia, Ricci, Martina, Capasso, Anna, D'Amico, Adele, Sansone, Valeria, Bissoli, Claudio Bruno, Messina, Sonia, Ricci, Federica, Mongini, Tiziana, Coccia, Michela, Siciliano, Gabriele, Pegoraro, Elena, Turri, Mara, Filosto, Massimiliano, Comi, Giacomo, Masson, Riccardo, Maggi, Lorenzo, Bruno, Irene, D'Angelo, Maria Grazia, Trabacca, Antonio, Vacchiano, Veria, Donati, Maria, Simone, Isabella, Ruggiero, Lucia, Varone, Antonio, Verriello, Lorenzo, Berardinelli, Angela, Agosto, Caterina, Pini, Antonella, Maioli, Maria Antonietta, Passamano, Luigia, Brighina, Filippo, Carboni, Nicola, Garibaldi, Matteo, Zuccarino, Riccardo, Gagliardi, Delio, Siliquini, Sabrina, Previtali, Stefano, Taruscio, Domenica, Boccia, Stefania, Pera, Maria Carmela, Pane, Marika, Mercuri, Eugenio Maria, Coratti, Giorgia (ORCID:0000-0001-6666-5628), D'amico, Adele, Bruno, Claudio, Boccia, Stefania (ORCID:0000-0002-1864-749X), Pera, Maria Carmela (ORCID:0000-0001-6777-1721), Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio (ORCID:0000-0002-9851-5365)

Abstract

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on number of SMA patients subdivided according to age, type, SMN2 copy number and treatment were collected. Results: 1255 SMA patients are currently followed in the Italian centers with an estimated prevalence of 2.12/100000. Of the 1255, 284 were type I, 470 type II, 467 type III and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100000 respectively. Three SMA 0 and 16 presymptomatic patients were also included.Around 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%,SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario.

Published
2022

6. Risdiplam in Type 1 Spinal Muscular Atrophy

Author

Baranello, Giovanni, Darras, Basil T, Day, John W, Deconinck, Nicolas, Klein, Andrea, Masson, Riccardo, Mercuri, Eugenio Maria, Rose, Kristy, El-Khairi, Muna, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Seabrook, Timothy, Fontoura, Paulo, Servais, Laurent, FIREFISH Working Group: Joseph, J Volpe, John, Posner, Armin, Koch, Ulrich, Kellner, Rosaline, Quinlivan, Irina, Balikova, Patricia, Delbeke, Inge, Joniau, Valentine, Tahon, Sylvia, Wittevrongel, Elke De Vos, Edmar, Zanoteli, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide, Machado, Maria Kiyoko Oyamada, Daniel de Souza Costa, Joyce, Martini, Graziela, Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Wang, Yi, Chaoping, Hu, Yiyun, Shi, Shuizhen, Zhou, Xiaomei, Zhu, Chen, Qian, Shen, Li, Ying, Xiao, Zhenxuan, Zhou, Hui, Li, Sujuan, Wang, Hui, Xiong, Tian, Sang, Cuijie, Wei, Jing, Wen, Yiwen, Cao, Wenzhu, Li, Lun, Qin, Nina, Barisic, Ivan, Celovec, Martina Galiot Delic, Petra Kristina Ivkić, Nenad, Vukojević, Ivana, Kern, Boris, Najdanovic, Marin, Skugor, Odile, Boespflug-Tanguy, Teresa, Gidaro, Andrea, Seferian, Emmanuel, Barreau, Elodie Da Cunha, Céline, Lambotin, Nabila, Mnafek, Helene, Peche, Stephanie, Gilabert, Allison, Grange, Charlotte, Lilien, Darko, Milascevic, Ariadna, Perticari, Shotaro, Tachibana, Emanuela, Pagliano, Bianchi Marzoli, Stefania, Diletta, Santarsiero, Myriam Garcia Sierra, Gemma, Tremolada, Maria Teresa Arnoldi, Marta, Vigano, Riccardo, Zanin, Bissoli, Claudio Bruno, Noemi, Brolatti, Marina, Pedemonte, Enrico, Priolo, Giuseppe, Rao, Enrica, Spaletra, Lorenza, Sposetti, Elisa, Tassara, Simone, Morando, Paola, Tacchetti, Giacomo Pietro Comi, Alessandra, Govoni, Silvia Gabriella Osnaghi, Valeria, Minorini, Francesca, Abbati, Federica, Fassini, Michaela, Foa, Amalia, Lopopolo, Elisa, Minuti, Pane, Marika, Concetta, Palermo, Pera, Maria Carmela, Amorelli, Giulia Maria, Costanza, Barresi, Gugliemo, D'Amico, Orazi, Lorenzo, Coratti, Giorgia, De Sanctis, Roberto, Yasuhiro, Takeshima, Fumi, Gomi, Naoki, Kimura, Takanobu, Morimatsu, Mana, Okamoto, Toru, Furukawa, Maria, Mazurkiewicz-Bełdzińska, Mateusz, Koberda, Natalia, Kubiak, Urszula, Stodolska-Koberda, Agnieszka, Waśkowska, Jagoda, Kolendo, Agnieszka, Sobierajska-Rek, Dmitry, Vlodavets, Svetlana, Artemyeva, Evgenia, Melnik, Natalya, Leppenen, Nataliya, Yupatova, Elena, Litvinova, Anastasya, Monakhova, Yulia, Papina, Olga, Shidlovsckaia, Cornelia, Enzmann, Elea, Galiart, Konstantin, Gugleta, Patricia, Siems, Verena, Kreiliger, Christine Wondrusch Haschke, Haluk, Topaloglu, Ibrahim, Oncel, Didem, Ardicli, Nesibe Eroglu Ertugrul, Hizal, Gharibzadeh, Ceren, Gunbey, Bahadir, Konuskan, Selen Serel Arslan, Elams Ebru Yalcin, Fatma Gokcem Yildiz Sarikaya, Bora, Eldem, Sibel, Kadayıfçılar, Ipek, Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Lucia, Ambrosio, Anne, Fulton, Anna Maria Baglieri, Courtney, Dias, Elizabeth, Maczek, Elizabeth, Mirek, Amy, Pasternak, Shannon, Beres, Tina, Duong, Richard, Gee, Sally, Young, Giovanni, Baranello, Basil T, Darra, John W, Day, Nicolas, Deconinck, Andrea, Klein, Riccardo, Masson, Eugenio, Mercuri, Kristy, Rose, Muna, El-Khairi, Marianne, Gerber, Ksenija, Gorni, Omar, Khwaja, Heidemarie, Kletzl, Renata S, Scalco, Timothy, Seabrook, Paulo, Fontoura, Laurent, Servai, and Ambrosio, Lucia

Subjects
Male, Oral, Neuromuscular disease, RNA Splicing, Administration, Oral, 030204 cardiovascular system & hematology, Spinal Muscular Atrophies of Childhood, Bioinformatics, Dose-Response Relationship, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Risdiplam, Type 1 Spinal Muscular Atrophy, 030212 general & internal medicine, Progression-free survival, 610 Medicine & health, Respiratory Tract Infections, Dose-Response Relationship, Drug, business.industry, Infant, Survival of motor neuron, General Medicine, Spinal muscular atrophy, medicine.disease, Survival of Motor Neuron 1 Protein, Progression-Free Survival, Clinical trial, Dose–response relationship, Settore MED/26 - NEUROLOGIA, Pyrimidines, nervous system, Neuromuscular Agents, RNA splicing, Administration, Female, Drug, business, Respiratory Insufficiency, Azo Compounds
Abstract

Background: Type 1 spinal muscular atrophy is a rare, progressive neuromuscular disease that is caused by low levels of functional survival of motor neuron (SMN) protein. Risdiplam is an orally administered, small molecule that modifies SMN2 pre-messenger RNA splicing and increases levels of functional SMN protein. Methods: We report the results of part 1 of a two-part, phase 2-3, open-label study of risdiplam in infants 1 to 7 months of age who had type 1 spinal muscular atrophy, which is characterized by the infant not attaining the ability to sit without support. Primary outcomes were safety, pharmacokinetics, pharmacodynamics (including the blood SMN protein concentration), and the selection of the risdiplam dose for part 2 of the study. Exploratory outcomes included the ability to sit without support for at least 5 seconds. Results: A total of 21 infants were enrolled. Four infants were in a low-dose cohort and were treated with a final dose at month 12 of 0.08 mg of risdiplam per kilogram of body weight per day, and 17 were in a high-dose cohort and were treated with a final dose at month 12 of 0.2 mg per kilogram per day. The baseline median SMN protein concentrations in blood were 1.31 ng per milliliter in the low-dose cohort and 2.54 ng per milliliter in the high-dose cohort; at 12 months, the median values increased to 3.05 ng per milliliter and 5.66 ng per milliliter, respectively, which represented a median of 3.0 times and 1.9 times the baseline values in the low-dose and high-dose cohorts, respectively. Serious adverse events included pneumonia, respiratory tract infection, and acute respiratory failure. At the time of this publication, 4 infants had died of respiratory complications. Seven infants in the high-dose cohort and no infants in the low-dose cohort were able to sit without support for at least 5 seconds. The higher dose of risdiplam (0.2 mg per kilogram per day) was selected for part 2 of the study. Conclusions: In infants with type 1 spinal muscular atrophy, treatment with oral risdiplam led to an increased expression of functional SMN protein in the blood. (Funded by F. Hoffmann-La Roche; ClinicalTrials.gov number, NCT02913482.).

Published
2021

7. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Author

Mercuri, Eugenio Maria, Muntoni, Francesco, Baranello, Giovanni, Masson, Riccardo, Boespflug-Tanguy, Odile, Bissoli, Claudio Bruno, Corti, Stefania, Daron, Aurore, Deconinck, Nicola, Servais, Laurent, Straub, Volker, Ouyang, Haojun, Chand, Deepa, Tauscher-Wisniewski, Sitra, Mendonca, Nuno, Lavrov, Arseniy, Pera, Maria Carmela, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Bruno, Claudio, STR1VE-EU study group (ORCID:0000-0001-6777-1721), Mercuri, Eugenio Maria, Muntoni, Francesco, Baranello, Giovanni, Masson, Riccardo, Boespflug-Tanguy, Odile, Bissoli, Claudio Bruno, Corti, Stefania, Daron, Aurore, Deconinck, Nicola, Servais, Laurent, Straub, Volker, Ouyang, Haojun, Chand, Deepa, Tauscher-Wisniewski, Sitra, Mendonca, Nuno, Lavrov, Arseniy, Pera, Maria Carmela, Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Bruno, Claudio, and STR1VE-EU study group (ORCID:0000-0001-6777-1721)

Abstract

Background Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor neuron dysfunction. In this STR1VE-EU study, we aimed to evaluate the safety and efficacy of onasemnogene abeparvovec gene replacement therapy in infants with spinal muscular atrophy type 1, using broader eligibility criteria than those used in STR1VE-US.Methods STR1VE-EU was a multicentre, single-arm, single-dose, open-label phase 3 trial done at nine sites (hospitals and universities) in Italy (n=4), the UK (n=2), Belgium (n=2), and France (n=1). We enrolled patients younger than 6 months (180 days) with spinal muscular atrophy type 1 and the common biallelic pathogenic SMN1 exon 7-8 deletion or point mutations, and one or two copies of SMN2. Patients received a one-time intravenous infusion of onasemnogene abeparvovec (1.1 x 1014 vector genomes [vg]/kg). The outpatient follow-up consisted of assessments once per week starting at day 7 post-infusion for 4 weeks and then once per month until the end of the study (at age 18 months or early termination). The primary outcome was independent sitting for at least 10 s, as defined by the WHO Multicentre Growth Reference Study, at any visit up to the 18 months of age study visit, measured in the intention-to-treat population. Efficacy was compared with the Pediatric Neuromuscular Clinical Research (PNCR) natural history cohort. This trial is registered with ClinicalTrials.gov, NCT03461289 (completed).Findings From Aug 16, 2018, to Sept 11, 2020, 41 patients with spinal muscular atrophy were assessed for eligibility. The median age at onasemnogene abeparvovec dosing was 4.1 months (IQR 3.0-5.2). 32 (97%) of 33 patients completed the study and were included in the ITT population (one patient was excluded despite completing the study because of dosing at 181 days). 14 (44%, 97.5% CI 26-100) of 32 patients achieved the primary endpoint of functional in

Published
2021

8. Genotype-phenotype correlations in recessive titinopathies

Author

Savarese, Marco, Vihola, Anna, Oates, Emily C, Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amet, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio Maria, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bissoli, Claudio Bruno, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J, Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), Bruno, Claudio, Savarese, Marco, Vihola, Anna, Oates, Emily C, Barresi, Rita, Fiorillo, Chiara, Tasca, Giorgio, Jokela, Manu, Sarkozy, Anna, Luo, Sushan, Díaz-Manera, Jordi, Ehrstedt, Christoffer, Rojas-García, Ricardo, Sáenz, Amet, Muelas, Nuria, Lonardo, Fortunato, Fodstad, Heidi, Qureshi, Talha, Johari, Mridul, Välipakka, Salla, Luque, Helena, Petiot, Philippe, de Munain, Adolfo López, Pane, Marika, Mercuri, Eugenio Maria, Torella, Annalaura, Nigro, Vincenzo, Astrea, Guja, Santorelli, Filippo Maria, Bissoli, Claudio Bruno, Kuntzer, Thierry, Illa, Isabel, Vílchez, Juan J, Julien, Cedric, Ferreiro, Ana, Malandrini, Alessandro, Zhao, Chong-Bo, Casar-Borota, Olivera, Davis, Mark, Muntoni, Francesco, Hackman, Peter, Udd, Bjarne, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio (ORCID:0000-0002-9851-5365), and Bruno, Claudio

Abstract

Purpose High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort. Methods We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenicTTNvariants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families). Results Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final threeTTNexons (362-364). Conclusion Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.

Published
2020

9. Age level vs grade level for the diagnosis of ADHD and neurodevelopmental disorders

Author

Bonati, Maurizio, Cartabia, Massimo, Zanetti, Michele, Reale, Laura, Didoni, Anna, Costantino, Maria Antonella, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Trabattoni, Sara, Effedri, Paola, Fazzi, Elisa, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Vasile, Gabriella, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Battaini, Chiara, Bissoli, Claudio, Canevini, Maria Paola, Cropanese, Isabella, Fornaro, Emiddio, Leonardi, Giorgio, Merati, Silvia, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, and Rossi, Giorgio

Subjects
School, Male, Parents, medicine.medical_specialty, Pediatrics, Adolescent, Epidemiology, Comorbidity, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Age factors, Attention-deficit hyperactivity disorder, Children, Italy, Attention Deficit Disorder with Hyperactivity, Child, Female, Humans, Incidence, Neurodevelopmental Disorders, Prevalence, Registries, Schools, Age Factors, Pediatrics, Perinatology and Child Health, Developmental and Educational Psychology, Psychiatry and Mental Health, mental disorders, medicine, Child and adolescent psychiatry, Attention deficit hyperactivity disorder, 0501 psychology and cognitive sciences, Cumulative incidence, 030212 general & internal medicine, business.industry, Incidence (epidemiology), 05 social sciences, General Medicine, Relative age effect, Perinatology and Child Health, medicine.disease, business, 050104 developmental & child psychology
Abstract

A number of worldwide studies have demonstrated that children born later in the school year are more likely to receive an ADHD diagnosis than their same school-year peers. There is, however, variation in findings between countries. We aimed to confirm whether relative age is associated with ADHD diagnosis, with or without comorbidities, and to investigate whether relative age is associated with ADHD type and severity, and if this age relationship is in common with other neurodevelopmental disorder. We used the Lombardy Region’s ADHD registry. Data on children aged 6 years and older from September 1, 2011 to December 31, 2017 were considered. We calculated incidence ratios to assess the inter-relations between relative age within the school year, using age at diagnosis of ADHD or of other psychiatric disorder, year of diagnosis, and total number of children born in Lombardy during the corresponding timeframe. Data on ADHD type, severity of diagnosed disorder clinical global impressions–severity scale, and repetition of a school-grade were also considered. 4081 children, 2856 of whom with ADHD, were identified. We confirmed that the cumulative incidence of ADHD diagnosis was greatest for younger children, in particular for boys, for whom the prevalence is greater. The relative age effect was not accounted for by ADHD comorbid disorders, ADHD of combined type or severity. The relative age effect was also observed for children with other neurodevelopmental disorders (without ADHD), with a similar profile as ADHD children: the incidence ratio was 1.78 (95% CI 1.07–2.97; p

Published
2018

10. Italian regional health service costs for diagnosis and 1-year treatment of ADHD in children and adolescents

Author

Casadei, Gianluigi, Cartabia, Massimo, Reale, Laura, Costantino, Maria Antonella, Bonati, Maurizio, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Trabattoni, Sara, Effedri, Paola, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Ricotta, Ernesta, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Bissoli, Claudio, Canevini, Maria Paola, Costantino, Antonella, Cropanese, Isabella, Didoni, Anna, Fornaro, Emiddio, Merati, Silvia, Ottolini, Alberto, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Valentino, Alessandra, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, Pavone, Francesca, Rossi, Giorgio, Zanetti, Michele, Casadei, G, Cartabia, M, Reale, L, Costantino, M, Bonati, M, Conte, S, Renzetti, V, Salvoni, L, Molteni, M, Trabattoni, S, Effedri, P, Filippini, E, Pedercini, E, Zanetti, E, Fteita, N, Arisi, D, Mapelli, R, Frassica, S, Oriani, S, Trevisan, C, Acquistapace, S, Martinelli, O, Villani, D, Binaghi, E, Deriu, A, Ricotta, E, Borchia, A, Morosini, P, Breviglieri, M, Capovilla, G, Segala, R, Bissoli, C, Canevini, M, Costantino, A, Cropanese, I, Didoni, A, Fornaro, E, Merati, S, Ottolini, A, Saccani, M, Vaccari, R, Valenti, V, Valentino, A, Balottin, U, Chiappedi, M, Vlacos, E, Meraviglia, C, Palmieri, M, Ruffoni, G, Rinaldi, F, Soardi, F, Luoni, C, Pavone, F, Rossi, G, and Zanetti, M

Subjects
medicine.medical_specialty, Psychological intervention, Ambulatory/outpatient care, Child and adolescent health, Health care cost, Health administration, lcsh:RC321-571, 03 medical and health sciences, Health services, 0302 clinical medicine, medicine, 030212 general & internal medicine, Treatment costs, Psychiatry, Psychiatric Mental Health, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Health policy, business.industry, Research, Health Policy, Environmental and Occupational Health, Public Health, Environmental and Occupational Health, Mental health, Cost driver, Psychiatry and Mental Health, Public Health, Pshychiatric Mental Health, Health care costs, business, 030217 neurology & neurosurgery, Time to diagnosis
Abstract

The main aim of this study was to estimate the costs associated with diagnostic assessment and 1-year therapy in children and adolescents enrolled in 18 ADHD reference centres. Data concerning 1887 children and adolescents from the mandatory ADHD registry database during the 2012–2014 period were analysed. The overall diagnostic and treatment costs per patient amounts to €574 and €830, respectively. The ADHD centre, the school as sender, and the time to diagnosis constitute cost drivers. Non-pharmacological therapy resulted as being more expensive for patients concomitantly treated with drugs (€929) compared to those treated with psychological interventions alone (€590; p = 0.006). This study gives the first and reliable estimate of the costs associated with both diagnosis and treatment of ADHD in Italy. Although costs associated with mental disorders are difficult to estimate, continuing efforts are need to define costs and resources to guarantee appropriate care, also for ADHD. Electronic supplementary material The online version of this article (doi:10.1186/s13033-017-0140-8) contains supplementary material, which is available to authorized users.

Published
2017

11. Italian regional health service costs for diagnosis and 1-year treatment of ADHD in children and adolescents

Author

Casadei, G, Cartabia, M, Reale, L, Costantino, M, Bonati, M, Conte, S, Renzetti, V, Salvoni, L, Molteni, M, Trabattoni, S, Effedri, P, Filippini, E, Pedercini, E, Zanetti, E, Fteita, N, Arisi, D, Mapelli, R, Frassica, S, Oriani, S, Trevisan, C, Acquistapace, S, Martinelli, O, Villani, D, Binaghi, E, Deriu, A, Ricotta, E, Borchia, A, Morosini, P, Breviglieri, M, Capovilla, G, Segala, R, Bissoli, C, Canevini, M, Costantino, A, Cropanese, I, Didoni, A, Fornaro, E, Merati, S, Ottolini, A, Saccani, M, Vaccari, R, Valenti, V, Valentino, A, Balottin, U, Chiappedi, M, Vlacos, E, Meraviglia, C, Palmieri, M, Ruffoni, G, Rinaldi, F, Soardi, F, Luoni, C, Pavone, F, Rossi, G, Zanetti, M, Casadei, Gianluigi, Cartabia, Massimo, Reale, Laura, Costantino, Maria Antonella, Bonati, Maurizio, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Trabattoni, Sara, Effedri, Paola, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Ricotta, Ernesta, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Bissoli, Claudio, Canevini, Maria Paola, Costantino, Antonella, Cropanese, Isabella, Didoni, Anna, Fornaro, Emiddio, Merati, Silvia, Ottolini, Alberto, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Valentino, Alessandra, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, Pavone, Francesca, Rossi, Giorgio, Zanetti, Michele, Casadei, G, Cartabia, M, Reale, L, Costantino, M, Bonati, M, Conte, S, Renzetti, V, Salvoni, L, Molteni, M, Trabattoni, S, Effedri, P, Filippini, E, Pedercini, E, Zanetti, E, Fteita, N, Arisi, D, Mapelli, R, Frassica, S, Oriani, S, Trevisan, C, Acquistapace, S, Martinelli, O, Villani, D, Binaghi, E, Deriu, A, Ricotta, E, Borchia, A, Morosini, P, Breviglieri, M, Capovilla, G, Segala, R, Bissoli, C, Canevini, M, Costantino, A, Cropanese, I, Didoni, A, Fornaro, E, Merati, S, Ottolini, A, Saccani, M, Vaccari, R, Valenti, V, Valentino, A, Balottin, U, Chiappedi, M, Vlacos, E, Meraviglia, C, Palmieri, M, Ruffoni, G, Rinaldi, F, Soardi, F, Luoni, C, Pavone, F, Rossi, G, Zanetti, M, Casadei, Gianluigi, Cartabia, Massimo, Reale, Laura, Costantino, Maria Antonella, Bonati, Maurizio, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Trabattoni, Sara, Effedri, Paola, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Ricotta, Ernesta, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Bissoli, Claudio, Canevini, Maria Paola, Costantino, Antonella, Cropanese, Isabella, Didoni, Anna, Fornaro, Emiddio, Merati, Silvia, Ottolini, Alberto, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Valentino, Alessandra, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, Pavone, Francesca, Rossi, Giorgio, and Zanetti, Michele

Abstract

The main aim of this study was to estimate the costs associated with diagnostic assessment and 1-year therapy in children and adolescents enrolled in 18 ADHD reference centres. Data concerning 1887 children and adolescents from the mandatory ADHD registry database during the 2012-2014 period were analysed. The overall diagnostic and treatment costs per patient amounts to €574 and €830, respectively. The ADHD centre, the school as sender, and the time to diagnosis constitute cost drivers. Non-pharmacological therapy resulted as being more expensive for patients concomitantly treated with drugs (€929) compared to those treated with psychological interventions alone (€590; p=0.006). This study gives the first and reliable estimate of the costs associated with both diagnosis and treatment of ADHD in Italy. Although costs associated with mental disorders are difficult to estimate, continuing efforts are need to define costs and resources to guarantee appropriate care, also for ADHD.

Published
2017

12. Comorbidity prevalence and treatment outcome in children and adolescents with ADHD

Author

Reale, L, Bartoli, B, Cartabia, M, Zanetti, M, Costantino, M, Canevini, M, Termine, C, Bonati, M, Conte, S, Renzetti, V, Salvoni, L, Molteni, M, Salandi, A, Trabattoni, S, Effedri, P, Filippini, E, Pedercini, E, Zanetti, E, Fteita, N, Arisi, D, Mapelli, R, Frassica, S, Oriani, S, Trevisan, C, Acquistapace, S, Martinelli, O, Villani, D, Binaghi, E, Deriu, A, Ricotta, E, Borchia, A, Morosini, P, Breviglieri, M, Capovilla, G, Segala, R, Bissoli, C, Cropanese, I, Fornaro, E, Merati, S, Ottolini, A, Saccani, M, Vaccari, R, Valenti, V, Valentino, A, Balottin, U, Chiappedi, M, Vlacos, E, Meraviglia, C, Palmieri, M, Ruffoni, G, Rinaldi, F, Soardi, F, Luoni, C, Pavone, F, Rossi, G, Reale, Laura, BARTOLI, BEATRICE, Cartabia, Massimo, Zanetti, Michele, Costantino, Maria Antonella, Canevini, Maria Paola, Termine, Cristiano, Bonati, Maurizio, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Salandi, Antonio, Trabattoni, Sara, Effedri, Paola, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Ricotta, Ernesta, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Bissoli, Claudio, Cropanese, Isabella, Fornaro, Emiddio, Merati, Silvia, Ottolini, Alberto, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Valentino, Alessandra, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, Pavone, Francesca, Rossi, Giorgio, Reale, L, Bartoli, B, Cartabia, M, Zanetti, M, Costantino, M, Canevini, M, Termine, C, Bonati, M, Conte, S, Renzetti, V, Salvoni, L, Molteni, M, Salandi, A, Trabattoni, S, Effedri, P, Filippini, E, Pedercini, E, Zanetti, E, Fteita, N, Arisi, D, Mapelli, R, Frassica, S, Oriani, S, Trevisan, C, Acquistapace, S, Martinelli, O, Villani, D, Binaghi, E, Deriu, A, Ricotta, E, Borchia, A, Morosini, P, Breviglieri, M, Capovilla, G, Segala, R, Bissoli, C, Cropanese, I, Fornaro, E, Merati, S, Ottolini, A, Saccani, M, Vaccari, R, Valenti, V, Valentino, A, Balottin, U, Chiappedi, M, Vlacos, E, Meraviglia, C, Palmieri, M, Ruffoni, G, Rinaldi, F, Soardi, F, Luoni, C, Pavone, F, Rossi, G, Reale, Laura, BARTOLI, BEATRICE, Cartabia, Massimo, Zanetti, Michele, Costantino, Maria Antonella, Canevini, Maria Paola, Termine, Cristiano, Bonati, Maurizio, Conte, Stefano, Renzetti, Valeria, Salvoni, Laura, Molteni, Massimo, Salandi, Antonio, Trabattoni, Sara, Effedri, Paola, Filippini, Elena, Pedercini, Elisabetta, Zanetti, Edda, Fteita, Nadia, Arisi, Daniele, Mapelli, Roberta, Frassica, Simona, Oriani, Simonetta, Trevisan, Christian, Acquistapace, Susanna, Martinelli, Ottaviano, Villani, Davide, Binaghi, Emanuela, Deriu, Andrea, Ricotta, Ernesta, Borchia, Arianna, Morosini, Paola, Breviglieri, Maddalena, Capovilla, Giuseppe, Segala, Roberto, Bissoli, Claudio, Cropanese, Isabella, Fornaro, Emiddio, Merati, Silvia, Ottolini, Alberto, Saccani, Monica, Vaccari, Roberto, Valenti, Vera, Valentino, Alessandra, Balottin, Umberto, Chiappedi, Matteo, Vlacos, Elena, Meraviglia, Corrado, Palmieri, Maria Grazia, Ruffoni, Gianpaolo, Rinaldi, Francesco, Soardi, Federica, Luoni, Chiara, Pavone, Francesca, and Rossi, Giorgio

Abstract

Although ADHD comorbidity has been widely studied, some issues remain unsolved. This multicenter observational study aims to examine comorbid psychiatric disorders in a clinical sample of newly diagnosed, treatment naïve children and adolescents with and without ADHD and, to compare treatment efficacy based on the type of comorbidity. We performed an analysis of the medical records of patients identified from the Regional ADHD Registry database, enrolled in 18 ADHD centers in the 2011–2016 period. 1919 of 2861 subjects evaluated (67%) met the diagnostic criteria for ADHD: 650 (34%) had only ADHD, while 1269 (66%) had at least one comorbid psychiatric disorder (learning disorders, 56%; sleep disorders, 23%; oppositional defiant disorder, 20%; anxiety disorders, 12%). Patients with ADHD of combined type and with severe impairment (CGI-S ≥5) were more likely to present comorbidity. 382 of 724 (53%) followed up patients improved after 1 year of treatment. ADHD with comorbidity showed greater improvement when treated with combined interventions or methylphenidate alone. Specifically, combined treatment showed significant superiority for ADHD with learning disorders (ES 0.66) and ODD (ES 0.98), lower for ADHD with sleep or anxiety disorders. Training intervention alone showed only medium efficacy (ES 0.50) for ADHD and learning disorders. This study was the first describing comorbidity patterns of ADHD in Italy, confirming, in a multicenter clinical setting, that ADHD is more often a complex disorder. Findings highlight important diagnostic, therapeutic, and service organization aspects that should be broadly extended to ensure an appropriate and homogenous ADHD management.

Published
2017

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