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2. Waiting times for diagnosis of attention-deficit hyperactivity disorder in children and adolescents referred to Italian ADHD centers must be reduced

Author

Bonati, M., Cartabia, M., Zanetti, M., Conte, S., Renzetti, V., Salvoni, L., Molteni, M., Trabattoni, S., Effedri, P., Fazzi, E., 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., Vasile, G., Borchia, A., Morosini, P., Breviglieri, M., Capovilla, G., Segala, R., Battaini, C., Bissoli, C., Canevini, M. P., Cropanese, I., Fornaro, E., Leonardi, G., Merati, S., Reale, L., Saccani, M., Vaccari, R., Valenti, V., Balottin, U., Chiappedi, M., Vlacos, E., Meraviglia, C., Palmieri, M. G., Ruffoni, G., Rinaldi, F., Soardi, F., Luoni, C., and Rossi, G.

Subjects
Waiting time, Male, medicine.medical_specialty, Adolescent, Waiting Lists, Epidemiology, Comorbidity, Health informatics, Health administration, Time-to-Treatment, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Attention-deficit hyperactivity disorder, Children, Health service, Italy, Analysis of Variance, Attention Deficit Disorder with Hyperactivity, Child, Child, Preschool, Female, Humans, Referral and Consultation, Registries, Attention deficit hyperactivity disorder, 030212 general & internal medicine, Psychiatry, Preschool, business.industry, Health Policy, Nursing research, Public health, lcsh:Public aspects of medicine, lcsh:RA1-1270, medicine.disease, Diagnostic classification, business, 030217 neurology & neurosurgery, Research Article
Abstract

Background To investigate timely access to and the time needed to complete the diagnostic path of children and adolescents with suspected attention deficit hyperactivity disorder (ADHD) in the 18 Italian Lombardy Region ADHD reference centers. Methods Data of children and adolescents enrolled in the Regional ADHD disease-oriented Registry for suspected ADHD who requested their first visit in 2013–2017 were analyzed. Results The sample comprised 2262 children and adolescents aged 5–17 years who accessed the ADHD centers for diagnostic classification and management. The median waiting time was of 177 days (range 66–375) from the request for the initial appointment to the completion of the diagnostic path, with a three - fold difference between centers. In addition to the center, the strongest significant predictors of long waiting times were age comorbidities, the severity of the disorder, and having already completed some diagnostic procedures provided by the common standard path. Conclusions To guarantee an equal standard of care in ADHD centers for all children and adolescents there is a pressing need to reduce the times to complete the diagnostic path. It is the task of both policymakers and each center to optimize the quality of the service and of the care delivered.

Published
2019

4. 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

5. 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

13. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

Author

Cunha, J. L., Soardi, F. C., Bernardi, R. D., Oliveira, L. E. C., Benedetti, C. E., Gil Guerra-Junior, Maciel-Guerra, A. T., and Mello, M. P.

Subjects
HMG-box, lcsh:R5-920, lcsh:Biology (General), Sex reversal SRY, Ocean Engineering, Missense mutation, Streak gonads, lcsh:Medicine (General), lcsh:QH301-705.5, Gonadal dysgenesis, Testis determination
Abstract

Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. According to the three-dimensional structure of the human SRY HMG-box, the substitution of the conserved glutamic acid residue by the basic lysine at position 89 introduces an extra positive charge adjacent to and between the positively charged residues R86 and K92, important for stabilizing the HMG-box helix 2 with DNA. Thus, we propose that an electrostatic repulsion caused by the proximity of these positive charges could destabilize the tip of helix 2, abrogating DNA interaction.

15. 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

16. 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, 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, and Rossi, G

Subjects
Male, medicine.medical_specialty, Adolescent, Psychological intervention, Comorbidity, Adolescents, behavioral disciplines and activities, Pediatrics, Attention deficit hyperactivity disorder, 03 medical and health sciences, 0302 clinical medicine, mental disorders, medicine, Child and adolescent psychiatry, Prevalence, Developmental and Educational Psychology, Humans, Treatment outcome, Psychiatry, Child, Children, Methylphenidate, Medical record, Pediatrics, Perinatology and Child Health, Philosophy, Psychiatry and Mental Health, General Medicine, Perinatology and Child Health, medicine.disease, 030227 psychiatry, Attention Deficit Disorder with Hyperactivity, MED/39 - NEUROPSICHIATRIA INFANTILE, Anxiety, Observational study, Female, medicine.symptom, Psychology, 030217 neurology & neurosurgery, medicine.drug
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 naive 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

17. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.

Author

Cunha JL, Soardi FC, Bernardi RD, Oliveira LE, Benedetti CE, Guerra-Junior G, Maciel-Guerra AT, and de Mello MP

Subjects
Adolescent, Female, Follicle Stimulating Hormone blood, Gonadal Dysgenesis, 46,XY diagnosis, Gonadal Dysgenesis, 46,XY surgery, Humans, Karyotyping, Young Adult, DNA-Binding Proteins genetics, Genes, sry genetics, Gonadal Dysgenesis, 46,XY genetics, Mutation genetics
Abstract

Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box) required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. According to the three-dimensional structure of the human SRY HMG-box, the substitution of the conserved glutamic acid residue by the basic lysine at position 89 introduces an extra positive charge adjacent to and between the positively charged residues R86 and K92, important for stabilizing the HMG-box helix 2 with DNA. Thus, we propose that an electrostatic repulsion caused by the proximity of these positive charges could destabilize the tip of helix 2, abrogating DNA interaction.

Published
2011
Full Text
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18. H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency.

Author

Lau IF, Soardi FC, Lemos-Marini SH, Guerra G Jr, Baptista MT, and De Mello MP

Subjects
Base Sequence genetics, Brazil, Female, Frameshift Mutation genetics, Homozygote, Humans, Infant, Newborn, Molecular Sequence Data, Adrenal Hyperplasia, Congenital, DNA Transposable Elements, Steroid 21-Hydroxylase genetics
Abstract

In the classical form of 21-hydroxylase deficiency, CYP21- affected genes either carry mutations present in the CYP21P pseudogene (microconversions) or bear a chimeric gene that replaces the active gene as a result of large conversion or deletion mutational events. Previous genotyping of 41 Brazilian patients revealed 64% microconversion, whereas deletions and large gene conversions accounted for up to 21% of the molecular defect. The present paper describes a new mutation disclosed by sequencing an entire gene in which no pseudogene-originated mutation had been found. The patient with the classical form of 21-hydroxylase deficiency is the daughter of a consanguineous marriage, and she is homozygous for a novel frameshift H28+C within exon 1. The mutation causes a stop codon at amino acid 78. Both parents are heterozygous for the mutation as confirmed by allele-specific oligonucleotide PCR. The H28+C is not present in the published CYP21P sequences and is likely to result in an enzyme with no activity.

Published
2001
Full Text
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22. [Experimental cholesterin atherosclerosis in the rabbit: action of a duodenal heparinoid. III. Modifications in the factors of hemocoagulation, plasmin and plasminogen, and in the thromboplastin and fibrinolytic activity of the aortic wall].

Author

SOARDI F, NICROSINI F, DEL FAVERO A, and PASOTTI C

Subjects
Animals, Heparin analogs & derivatives, Rabbits, Aorta metabolism, Arteriosclerosis, Atherosclerosis, Blood Coagulation pharmacology, Cholesterol pharmacology, Fibrinolysin, Heparinoids, Plasminogen, Thrombolytic Therapy, Thromboplastin
Published
1961

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