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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

3. 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

4. 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

6. 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

7. 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

8. Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy.

Author

Pezzani L, Marchetti D, Cereda A, Caffi LG, Manara O, Mamoli D, Pezzoli L, Lincesso AR, Perego L, Pellicioli I, Bonanomi E, Salvoni L, and Iascone M

Subjects
Brain abnormalities, Brain diagnostic imaging, Child, Comparative Genomic Hybridization, Egypt, Electroencephalography, Facies, Female, Humans, Karyotyping, Magnetic Resonance Imaging, Exome Sequencing, Genes, ras, Genetic Association Studies methods, Genetic Predisposition to Disease, Mutation, Phenotype, Proto-Oncogene Proteins B-raf genetics
Abstract

We report a 9-year-old girl with hypotonia, severe motor delay, absent speech, and facial dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio-based whole exome sequencing (WES) analysis detected a de novo heterozygous mutation in the BRAF gene leading to the diagnosis of an atypical presentation of cardiofaciocutaneous (CFC) syndrome. This is the second case of CFC syndrome complicated with acute encephalopathy reported in the literature and supports the hypothesis that acute encephalopathy might be one of the complications of the syndrome due to an intrinsic susceptibility to this acute event. The report furthermore highlights the role of WES in providing a fast diagnosis in patients in critical conditions with atypical presentation of rare genetic syndromes., (© 2018 Wiley Periodicals, Inc.)

Published
2018
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