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1. Serious Games in the new era of digital-health interventions: A narrative review of their therapeutic applications to manage neurobehavior in neurodevelopmental disorders

Author

Vacca R. A., Augello A., Gallo L., Caggianese G., Malizia V., La Grutta S., Murero M., Valenti D., Tullo A., Balech B., Marzano F., Ghezzo A., Tancredi G., Turchetta A., Riccio M. P., Bravaccio C., Scala, I., Vacca, R. A., Augello, A., Gallo, L., Caggianese, G., Malizia, V., La Grutta, S., Murero, M., Valenti, D., Tullo, A., Balech, B., Marzano, F., Ghezzo, A., Tancredi, G., Turchetta, A., Riccio, M. P., Bravaccio, C., amp, and Scala, I.

Subjects
Behavioral Neuroscience, Neuropsychology and Physiological Psychology, Cognitive Neuroscience, Human-Machine Communication, digital health therapeutics, neurodevelopmental disorders, serious games, e-health
Abstract

Children and adolescents with neurodevelopmental disorders generally show adaptive, cognitive and motor skills impairments associated with behavioral problems, i.e., alterations in attention, anxiety and stress regulation, emotional and social relationships, which strongly limit their quality of life. This narrative review aims at providing a critical overview of the current knowledge in the field of serious games (SGs), known as digital instructional interactive videogames, applied to neurodevelopmental disorders. Indeed, a growing number of studies is drawing attention to SGs as innovative and promising interventions in managing neurobehavioral and cognitive disturbs in children with neurodevelopmental disorders. Accordingly, we provide a literature overview of the current evidence regarding the actions and the effects of SGs. In addition, we describe neurobehavioral alterations occurring in some specific neurodevelopmental disorders for which a possible therapeutic use of SGs has been suggested. Finally, we discuss findings obtained in clinical trials using SGs as digital therapeutics in neurodevelopment disorders and suggest new directions and hypotheses for future studies to bridge the gaps between clinical research and clinical practice.

Published
2023

3. Transcriptome signatures from discordant sibling pairs reveal changes in peripheral blood immune cell composition in Autism Spectrum Disorder

Author

Filosi, Michele, Kam-Thong, Tony, Essioux, Laurent, Muglia, Pierandrea, Trabetti, Elisabetta, Spooren, Will, Müller-Myshok, Bertram, Domenici, EnricoAlibrio G, Anchisi L, Andruccioli M, Benvenuto A, Battistella PA, Boscaini F, Bravaccio C, Ceppi E, Cosentino D, Curatolo P, Da Ros L, Bernardina BD, De Giacomo A, Di Vita G, Domenici E, Elia M, Gitti F, Grittani S, Lamanna AL, Mani E, Manzi B, Margari L, Masi G, Molteni M, Muglia P, Nardocci F, Pascotto A, Parmeggiani A, Pignatti PF, Piroddi T, Prandini P, Ratti E, Rizzini P, Russo S, Scifo R, Tancredi R, Tiberti A, Trabetti E, Zoccante L, Zuddas A., Michele Filosi , Tony Kam-Thong , Laurent Essioux , Pierandrea Muglia , Elisabetta Trabetti , Will Spooren , Bertram Müller-Myshok , Italian Autism Network, Enrico Domenici, Antonia Parmeggiani, Filosi, Michele, Kam-Thong, Tony, Essioux, Laurent, Muglia, Pierandrea, Trabetti, Elisabetta, Spooren, Will, Müller-Myshok, Bertram, Domenici, Enricoalibrio, G, Anchisi, L, Andruccioli, M, Benvenuto, A, Battistella, Pa, Boscaini, F, Bravaccio, C, Ceppi, E, Cosentino, D, Curatolo, P, Da Ros, L, Bernardina, Bd, De Giacomo, A, Di Vita, G, Domenici, E, Elia, M, Gitti, F, Grittani, S, Lamanna, Al, Mani, E, Manzi, B, Margari, L, Masi, G, Molteni, M, Muglia, P, Nardocci, F, Pascotto, A, Parmeggiani, A, Pignatti, Pf, Piroddi, T, Prandini, P, Ratti, E, Rizzini, P, Russo, S, Scifo, R, Tancredi, R, Tiberti, A, Trabetti, E, Zoccante, L, and Zuddas, A.

Subjects
0301 basic medicine, Autism Spectrum Disorder, autism spectrum disorders, Biology, Molecular neuroscience, Peripheral blood mononuclear cell, Article, lcsh:RC321-571, Transcriptome, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, transcriptomic signatures, mental disorders, medicine, Humans, Allele, Sibling, Autistic Disorder, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, Genetics, Autism, genetics, neuroscience, Blood Cells, Siblings, medicine.disease, Gene expression profiling, Psychiatry and Mental health, 030104 developmental biology, Asperger syndrome, Autism spectrum disorder, Autism, 030217 neurology & neurosurgery, Biomarkers
Abstract

Notwithstanding several research efforts in the past years, robust and replicable molecular signatures for autism spectrum disorders from peripheral blood remain elusive. The available literature on blood transcriptome in ASD suggests that through accurate experimental design it is possible to extract important information on the disease pathophysiology at the peripheral level. Here we exploit the availability of a resource for molecular biomarkers in ASD, the Italian Autism Network (ITAN) collection, for the investigation of transcriptomic signatures in ASD based on a discordant sibling pair design. Whole blood samples from 75 discordant sibling pairs selected from the ITAN network where submitted to RNASeq analysis and data analyzed by complementary approaches. Overall, differences in gene expression between affected and unaffected siblings were small. In order to assess the contribution of differences in the relative proportion of blood cells between discordant siblings, we have applied two different cell deconvolution algorithms, showing that the observed molecular signatures mainly reflect changes in peripheral blood immune cell composition, in particular NK cells. The results obtained by the cell deconvolution approach are supported by the analysis performed by WGCNA. Our report describes the largest differential gene expression profiling in peripheral blood of ASD subjects and controls conducted by RNASeq. The observed signatures are consistent with the hypothesis of immune alterations in autism and an increased risk of developing autism in subjects exposed to prenatal infections or stress. Our study also points to a potential role of NMUR1, HMGB3, and PTPRN2 in ASD.

Published
2020

5. Phantom phone signal: Why it should be of interest for psychiatry

Author

Pisano S., Masi G., Catone G., Muratori P., Milone A., Iuliano R., Rega A., Senese V. P., Santangelo P., Riccio M. P., Bravaccio C., Pisano, S., Masi, G., Catone, G., Muratori, P., Milone, A., Iuliano, R., Rega, A., Senese, V. P., Santangelo, P., Riccio, M. P., and Bravaccio, C.

Subjects
Psychiatry, Phantom ringing, Phantom vibration
Abstract

Phantom Phone Signal (PPS) refers to the false perception of a mobile phone ringing, vibrating and blinking, when in fact it did not. A recent literature about PPS is growing, parallel to an increasing interest about its possible psychopathological implications. The present review aims to synthesize the current knowledge about the phenomenon, and to present a conceptual framework that integrates PPS as a putative index of psychopathology. Furthermore, we propose possible directions for further research. The phenomenon seems highly prevalent, irrespective of age and gender, although estimates are still inconsistent. We have analysed possible factors associated to PPS, disentangling them in person-related (i.e. characteristics of individuals who experience PPS) and phone use-related factors (i.e., time spent using the phone, time of the mobile in vibrating mode, the carrying location of the device, average number of call/message in a day, etc). Literature regarding the association between PPS and mental illness is limited, as most of the samples are not clinical and too sectorial. Preliminary data suggest that anxiety/depression and stress-related problems seem to be the psychopathological background favouring the experience of PPS. Despite PPS is a common phenomenon, it usually do not seem to significantly impact the people's quality of life. However, they deserve attention, given the huge diffusion of phone mobiles, particularly in children and adolescents, as it may be an index for emotional or stress-related difficulties. Future studies are needed to better clarify its frequency and its possible impact on everyday life. Studies in clinical samples may further clarify its psychopathological implications.

Published
2021

6. Autism spectrum disorders and oral health status: review of the literature

Author

Ferrazzano G. F., Salerno C., Bravaccio C., Ingenito A., Sangianantoni G., Cantile T., Ferrazzano, G. F., Salerno, C., Bravaccio, C., Ingenito, A., Sangianantoni, G., and Cantile, T.

Subjects
Dental injurie, Dental Carie, Autistic spectrum disorder, Autism Spectrum Disorder, Dental treatment, Humans, Oral Health, ASD children, Dental Caries, Child, Periodontal Diseases, Oral statu, Human
Abstract

Aim Autism Spectrum Disorder (ASD) is characterised by impairments in communication and social relationships and by a narrow, repetitive and stereotyped repertoire of activities, behaviours and interests. The aim of this work is to evaluate how these characteristics have an impact on oral health. Materials and methods A search was conducted through MEDLINE/PubMed and Web of Science in order to evaluate the oral health status of children with ASD and the correlation between ASD and dental caries, periodontal disease, dental injuries, oral microbiota, as well as the different strategies, approach and treatments in ASD patients. Forty-six articles were selected. Results Children with ASD are at higher risk of caries, alteration of the periodontal status, alterations of the oral microbiota and increased risk of traumatic injuries. Conclusion Since ASD is a haeterogeneous disease with a wide range of expressions in individuals, adapted and specific strategies are needed. ASD children represent a challenge for the dental community.

Published
2020

15. The Italian autism network (ITAN): a resource for molecular genetics and biomarker investigations

Author

Muglia, P., Filosi, M., Ros, Da, Kam-Thong, T., Nardocci, F., Trabetti, E., Ratti, E., Rizzini, P., Zuddas, A., Bernardina, B. D., Domenici, Enrico, Alibrio, G., Anchisi, L., Andruccioli, M., Benvenuto, A., Battistella, P. A., Boscaini, F., Bravaccio, C., Ceppi, E., Cosentino, D., Curatolo, P., De Giacomo, A., Di Vita, G., Elia, M., Gitti, F., Grittani, S., Lamanna, A. L., Mani, E., Manzi, B., Margari, L., Masi, G., Molteni, M., Pascotto, A., Parmeggiani, A., Pignatti, P. F., Piroddi, T., Prandini, P., Russo, S., Scifo, R., Tancredi, R., Tiberti, A., Zoccante, L., Pierandrea Muglia, Michele Filosi, Lucio Da Ros, Tony Kam-Thong, Franco Nardocci, Elisabetta Trabetti, Emiliangelo Ratti, Paolo Rizzini, Alessandro Zuddas, Bernardo Dalla Bernardina, Enrico Domenici,..Antonia Parmeggiani, Muglia, Pierandrea, Filosi, Michele, Da Ros, Lucio, Kam-Thong, Tony, Nardocci, Franco, Trabetti, Elisabetta, Ratti, Emiliangelo, Rizzini, Paolo, Zuddas, Alessandro, Bernardina, Bernardo Dalla, Domenici, Enrico, Alibrio, Giovanni, Anchisi, Laura, Andruccioli, Milena, Benvenuto, Arianna, Battistella, Pier Antonio, Boscaini, Flavio, Bravaccio, Carmela, Ceppi, Elisa, Cosentino, Diego, Curatolo, Paolo, De Giacomo, Andrea, Di Vita, Giuseppa, Elia, Massimo, Gitti, Filippo, Grittani, Serenella, Lamanna, Anna Linda, Mani, Elisa, Manzi, Barbara, Margari, Lucia, Masi, Gabriele, Molteni, Massimo, Pascotto, Antonio, Parmeggiani, Antonia, Pignatti, Pier Franco, Piroddi, Tiziana, Prandini, Paola, Russo, Sebastiano, Scifo, Renato, Tancredi, Raffaella, Tiberti, Alessandra, and Zoccante, Leonardo

Subjects
0301 basic medicine, Male, medicine.medical_specialty, Adolescent, lcsh:RC435-571, Autism Spectrum Disorder, Medical Records, Autism Spectrum disorders, 03 medical and health sciences, Study Protocol, 0302 clinical medicine, Genetic, Language assessment, lcsh:Psychiatry, medicine, Pervasive developmental disorder, Child and adolescent psychiatry, Genetics, Humans, Biorepository, Asperger Syndrome, Child, Biomarkers, Wechsler Intelligence Scale for Children, Biological Specimen Banks, business.industry, Leiter International Performance Scale, Medical record, Autism Spectrum disorders, Biomarkers, Biorepository, Genetics, Biomarker, medicine.disease, Settore MED/39 - Neuropsichiatria Infantile, Psychiatry and Mental health, 030104 developmental biology, Databases as Topic, Italy, Psychiatry and Mental Health, Child Development Disorders, Pervasive, Child, Preschool, Autism, Health Resources, Female, business, 030217 neurology & neurosurgery, Clinical psychology
Abstract

BackgroundA substantial genetic component accounts for Autism Spectrum Disorders (ASD) aetiology, with some rare and common genetic risk factors recently identified. Large collections of DNAs from thoroughly characterized ASD families are an essential step to confirm genetic risk factors, identify new variants and investigate genotype-phenotype correlations. The Italian Autism Network aimed at constituting a clinical database and a biorepository of samples derived from ASD subjects and first-degree relatives extensively and consistently characterized by child psychiatry centers in Italy.MethodsThe study was approved by the ethical committee of the University of Verona, the coordinating site, and by the local ethical committees of each recruiting site. Certified staff was specifically trained at each site for the overall study conduct, for clinical protocol administration and handling of biological material. A centralized database was developed to collect clinical assessment and medical records from each recruiting site. Children were eligible for recruitment based on the following inclusion criteria: age 4–18 years, at least one parent or legal guardian giving voluntary written consent, meeting DSM-IV criteria for Autistic Disorder or Asperger’s Disorder or Pervasive Developmental Disorder NOS. Affected individuals were assessed by full psychiatric, neurological and physical examination, evaluation with ADI-R and ADOS scales, cognitive assessment with Wechsler Intelligence Scale for Children or Preschool and Primary, Leiter International Performance Scale or Griffiths Mental Developmental Scale. Additional evaluations included language assessment, the Krug Asperger’s Disorder Index, and instrumental examination such as EEG and structural MRI. DNA, RNA and plasma were collected from eligible individuals and relatives. A central laboratory was established to host the biorepository, perform DNA and RNA extraction and lymphocytes immortalisation. DiscussionThe study has led to an extensive collection of biological samples associated with standardised clinical assessments from a network of expert clinicians and psychologists. Eighteen sites have received ADI/ADOS training, thirteen of which have been actively recruiting. The clinical database currently includes information on 812 individuals from 249 families, and the biorepository has samples for 98% of the subjects. This effort has generated a highly valuable resource for conducting clinical and genetic research of ASD, amenable to further expansion.

Published
2018

17. Do Different Initial Doses of L-T4 within the Range of 10-15 mcg/kg/day Influence Neurodevelopment during the First Two Years of Life in Children with Congenital Hypothyroidism?

Author

Esposito, A, Bravaccio, C, Bruzzese, D, Cassio, A, Gastaldi, R, Mussa, A, Peroni, E, Polizzi, M, Vigone, MC, Wasniewska, MG, Weber, G, Salerno, M, Esposito, A, Bravaccio, C, Bruzzese, D, Cassio, A, Gastaldi, R, Mussa, A, Peroni, E, Polizzi, M, Vigone, Mc, Wasniewska, Mg, Weber, G, and Salerno, M

Published
2016

19. Transcranial direct current stimulation for autistic disorder

Author

D'Urso G, Ferrucci R, Bruzzese D, Priori A, Altamura CA, Bravaccio C., PASCOTTO, Antonio, GALDERISI, Silvana, D'Urso, G, Ferrucci, R, Bruzzese, D, Pascotto, Antonio, Priori, A, Altamura, Ca, Galderisi, Silvana, and Bravaccio, C.

Subjects
psychological rating scale, prefrontal cortex, Aberrant Behavior Checklist, adult, informed consent, letter, autism, skin irritation, male, priority journal, treatment outcome, case report, follow up, human, intelligence quotient, transcranial direct current stimulation, Autistic Disorder, named inventories, questionnaires and rating scale, treatment failure
Published
2014

20. Intestinal Barrier in Autism

Author

DE MAGISTRIS, Laura, Picardi A, Sapone A, Cariello R, Siniscalco D, Bravaccio C, Pascotto A., Patel VB, Patel VB, Preedy VR, Martin CR, DE MAGISTRIS, Laura, Picardi, A, Sapone, A, Cariello, R, Siniscalco, D, Bravaccio, C, and Pascotto, A.

Published
2014

21. The predictive value of ABCB1, ABCG2, CYP3A4/5 and CYP2D6 polymorphisms for risperidone and aripiprazole plasma concentrations and the occurrence of adverse drug reactions

Author

Rafaniello, C, primary, Sessa, M, additional, Bernardi, F F, additional, Pozzi, M, additional, Cheli, S, additional, Cattaneo, D, additional, Baldelli, S, additional, Molteni, M, additional, Bernardini, R, additional, Rossi, F, additional, Clementi, E, additional, Bravaccio, C, additional, Radice, S, additional, and Capuano, A, additional

Published
2017
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25. Attention-deficit/hyperactivity disorder drugs and growth: an Italian prospective observational study

Author

Germinario, Ea, Arcieri, R, Bonati, M, Zuddas, A, Masi, G, Vella, S, Chiarotti, F, Panei, P, Italian ADHD Regional Reference Centers, Bobba, B, Veneselli, EDVIGE MARIA, Baldizzone, Mj, De Nobili, G, Marcelli, M, Torrioli, Mg, Vicari, S, Bartolomeo, S, Curatolo, P, Fabrizi, A, Donfrancesco, R, Parisi, R, Suglia, D, Nicoletta, M, Stagi, P, Murru, F, Tullini, A, Chiodo, S, Pirisi, A, Morbin, E, Milantoni, L, Bernardina, Bd, Maschietto, D, Mambelli, C, Condini, A, Brighenti, M, Miottello, P, Tombolato, R, Rizzo, L, Gemma, A, Musumeci, S, Vanadia, F, Costanza, G, Ragusa, D, Calamoneri, F, Mazzone, D, Giaccherini, F, Carrozzi, M, Cremaschi, S, Ottolini, A, Arisi, D, Tiberti, A, Terragni, Ml, Morosini, P, Meraviglia, C, Lenti, C, Pezzani, M, Balottin, U, Piccinelli, P, Chiarenza, G, Brunati, E, Montrasio, V, Molteni, M, Rinaldi, F, Rossi, G, Segala, R, Guccione, F, Bailo, P, Besana, D, Bassi, B, Rolando, M, Jarre, L, Ragazzo, F, Tondi, M, Casara, G, Arcangeli, D, Stermann, I, Giannelli, C, Voltolin, G, Legge, Mp, Sechi, E, Gennaro, E, Campolo, G, La Vitola, A, Mingolla, A, Spina, A, Margari, L, Massagli, A, Bravaccio, C, Granato, R, Grimaldi, G, Mazzotta, G, Cioni, G, Pincherle, M, Cesare, C, Stoppioni, V, Rosolino, T., Bobba, B, Veneselli, E, Baldizzone, Mj, De Nobili, G, Marcelli, M, Torrioli, Mg, Vicari, S, Bartolomeo, S, Curatolo, P, Fabrizi, A, Donfrancesco, R, Parisi, R, Suglia, D, Nicoletta, M, Stagi, P, Murru, F, Tullini, A, Chiodo, S, Pirisi, A, Morbin, E, Milantoni, L, Bernardina, Bd, Maschietto, D, Mambelli, C, Condini, A, Brighenti, M, Miottello, P, Tombolato, R, Rizzo, L, Gemma, A, Musumeci, S, Vanadia, F, Costanza, G, Ragusa, D, Calamoneri, F, Mazzone, D, Giaccherini, F, Carrozzi, M, Cremaschi, S, Ottolini, A, Arisi, D, Tiberti, A, Terragni, Ml, Morosini, P, Meraviglia, C, Lenti, C, Pezzani, M, Balottin, U, Piccinelli, P, Chiarenza, G, Brunati, E, Montrasio, V, Molteni, M, Rinaldi, F, Rossi, G, Segala, R, Guccione, F, Bailo, P, Besana, D, Bassi, B, Rolando, M, Jarre, L, Ragazzo, F, Zuddas, A, Tondi, M, Casara, G, Arcangeli, D, Stermann, I, Giannelli, C, Voltolin, G, Legge, Mp, Sechi, E, Gennaro, E, Campolo, G, La Vitola, A, Mingolla, A, Spina, A, Margari, L, Massagli, A, Bravaccio, C, Granato, R, Grimaldi, G, Mazzotta, G, Masi, G, Cioni, G, Pincherle, M, Cesare, C, Stoppioni, V, and Rosolino, T.

Subjects
Male, Pediatrics, medicine.medical_specialty, Percentile, Adolescent, Body weight, Atomoxetine Hydrochloride, Child Development, mental disorders, medicine, Attention deficit hyperactivity disorder, Humans, Pharmacology (medical), Prospective Studies, Registries, Prospective cohort study, Child, Adrenergic Uptake Inhibitors, Propylamines, Methylphenidate, Atomoxetine, Body Weight, Original Articles, Adolescent Development, medicine.disease, Body Height, Surgery, Psychiatry and Mental health, Italy, Attention Deficit Disorder with Hyperactivity, Pediatrics, Perinatology and Child Health, Observational study, Central Nervous System Stimulants, Female, Psychology, human activities, medicine.drug, Atomoxetine hydrochloride
Abstract

This study was conducted to assess the long-term effect of methylphenidate (MPH) or atomoxetine (ATX) on growth in attention-deficit/hyperactivity disorder (ADHD) drug-naïve children.The study was an observational, post-marketing, fourth phase study.Data on height and weight were collected at baseline and every 6 months up to 24 months.Both ATX and MPH lead to decreased height gain (assessed by means of z-scores); the effect was significantly higher for ATX than for MPH. At any time, height z-score decrease in the ATX group was higher than the corresponding decrease observed in the MPH group, but the difference was significantly relevant only during the first year of treatment. An increment of average weight was observed both in patients treated with MPH and in those treated with ATX. However, using Tanner's percentile, a subset of patients showed a degree of growth lower than expected. This negative effect was significantly higher for ATX than for MPH.We conclude that ADHD drugs show a negative effect on linear growth in children in middle term. Such effect appears more evident for ATX than for MPH.

Published
2013

30. Obesità infantile ed aspetti psicopatologici

Author

CAROTENUTO, Marco, Militerni G, Polizzi M, ESPOSITO, Maria, Marino M, Fiumani PM, Riccio MP, Bravaccio C., Carotenuto, Marco, Militerni, G, Polizzi, M, Esposito, Maria, Marino, M, Fiumani, Pm, Riccio, Mp, and Bravaccio, C.

Published
2008

31. INTESTINAL INVOLVMENT IN AUTISTIC DISORDER: PROGRESS OF RESEARCH

Author

FAMILIARI V, DE MAGISTRIS, Laura, SAPONE A, RIEGLER, Gabriele, CARTENÌ M, IARDINO P, CARAVELLI G, BRAVACCIO C, FROLLI A, MILITERNI R, PASCOTTO, Antonio, Familiari, V, Demagistris, L, Sapone, A, Riegler, G, Cartenì, M, Iardino, P, Caravelli, G, Bravaccio, Carmela, Frolli, A, Militerni, R, Pascotto, A., DE MAGISTRIS, Laura, Riegler, Gabriele, Bravaccio, C, and Pascotto, Antonio

Published
2008

32. INTESTINAL PERMEABILITY IN AUTISTIC DISORDER

Author

FAMILIARI V, DE MAGISTRIS, Laura, SAPONE A, ESPOSITO R, RIEGLER, Gabriele, CARTENÌ M, GENEROSO M, IARDINO P, GUARDASCIONE T, BRAVACCIO C, FROLLI A, MILITERNI R, PASCOTTO, Antonio, Familiari, V, Demagistris, L, Sapone, A, Esposito, R, Riegler, G, Cartenì, M, Generoso, M, Iardino, P, Guardascione, T, Bravaccio, Carmela, Frolli, A, Militerni, R, Pascotto, A., DE MAGISTRIS, Laura, Riegler, Gabriele, Bravaccio, C, and Pascotto, Antonio

Published
2007

34. Social anxiety disorders in children and adolescents [Il disturbo d'ansia sociale in età evolutiva]

Author

Diavoletto A, De Rosa C, Perozziello F, De Lucia C, Bravaccio C., Diavoletto, A, De Rosa, C, Perozziello, F, De Lucia, C, and Bravaccio, C.

Abstract

The Authors have considered 17 patients (aged from 8 to 17) with social anxiety disorders. In these cases appears a reciprocal relationship between the comorbidity frequently, lower socio-economic status, and family history of anxiety disorders. This suggests that it is important an intervention for preventing with: a) educating parents about social anxiety disorders; b) teaching information about risk; c) according with a multiprofessional clinical group and local services for early treatment.

Published
2005

36. L-ACETILCARNITINA: UTILIZZO NELLA SINDROME DI RETT

Author

BRAVACCIO C, EPIFANIO G, FORIA E, LA TORRE G, NIGRO G, SERGI L, PASCOTTO, Antonio, Bravaccio, C, Epifanio, G, Foria, E, LA TORRE, G, Nigro, G, Sergi, L, and Pascotto, Antonio

Published
2003

38. ENURESI PRIMARIA E PARASONNIE NREM: STUDIO DI UNA CASISTICA

Author

CAROTENUTO, Marco, Bove D, Del Gado G, Pacciolla A, Picariello A, Calobrisi C, Salerno F, Santangelo MP, Bravaccio C, PASCOTTO, Antonio, Carotenuto, Marco, Bove, D, Del Gado, G, Pacciolla, A, Picariello, A, Calobrisi, C, Salerno, F, Santangelo, Mp, Bravaccio, C, and Pascotto, Antonio

Published
2003

39. The HOXA1 G allele may be associated with dysmorphism in autism

Author

Persico, AM and Stodgell, C and D'Agruma, L and Zelante, L and Militerni, R, Bravaccio C, and Trillo, S and Montecchi, F and Schneider, C and Melmed, R and Elia, M and Pascucci, T and Puglisi-Allegra, S and Reichelt, KL and Muscarella, LA and Guarnieri, V and Conciatori, M and Rodier, P, Persico, AM and, Stodgell, C and, D'Agruma, L and, Zelante, L and, Militerni, R, Bravaccio, C, And, Trillo, S and, Montecchi, F and, Schneider, C and, Melmed, R and, Elia, M and, Pascucci, T and, Puglisi-Allegra, S and, Reichelt, KL and, Muscarella, LA and, Guarnieri, V and, Conciatori, M and, Rodier, and P

Published
2002

40. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

Author

PERSICO AM, D'AGRUMA L, MAIORANO N, TOTARO A, MILITERNI R, BRAVACCIO C, WASSINK TH, SCHNEIDER C, MELMED R, TRILLO S, MONTECCHI F, PALERMO M, PASCUCCI T, PUGLISI ALLEGRA S, REICHELT KL, CONCIATORI M, MARINO R, QUATTROCCHI CC, ZELANTE L, GASPARINI P, KELLER F, COLLABORATIVE LINKAGE STUDY OF AUTISM, BALDI, Alfonso, Persico, Am, D'Agruma, L, Maiorano, N, Totaro, A, Militerni, R, Bravaccio, Carmela, Wassink, Th, Schneider, C, Melmed, R, Trillo, S, Montecchi, F, Palermo, M, Pascucci, T, PUGLISI ALLEGRA, S, Reichelt, Kl, Conciatori, M, Marino, R, Quattrocchi, Cc, Baldi, A, Zelante, L, Gasparini, P, Keller, F., Bravaccio, C, Baldi, Alfonso, Keller, F, and COLLABORATIVE LINKAGE STUDY OF, Autism

Subjects
Male, Linkage disequilibrium, Neuronal, Autism, Reeler mouse, Allelic association, Cranial circumference, Haplotype relative risk, Serotonin, Splice junction, Transmission/disequilibrium test, Trinucleotide repeat, Adult, Aged, 80 and over, Alleles, Autistic Disorder, Brain Chemistry, Case-Control Studies, Cell Adhesion Molecules, Exons, Extracellular Matrix Proteins, Family Health, Female, Genetic Markers, Genetic Predisposition to Disease, Haplotypes, Humans, Linkage Disequilibrium, Middle Aged, Nerve Tissue Proteins, Point Mutation, Polymorphism, Single Nucleotide, RNA Splice Sites, Risk Factors, Serine Endopeptidases, Skull, Trinucleotide Repeats, Molecular Biology, Cellular and Molecular Neuroscience, Psychiatry and Mental Health, Exon, Reelin, Genetics, Aged, 80 and over, biology, Transmission disequilibrium test, Psychiatry and Mental health, Cell Adhesion Molecules, Neuronal, Polymorphism, Single Nucleotide, medicine, Haplotype, Single-strand conformation polymorphism, medicine.disease, allelic association, autism, cranial circumference, haplotype relative risk, linkage disequilibrium, reeler mouse, serotonin, splice junction, transmission/disequilibrium test, trinucleotide repeat, Developmental disorder, Reelin Protein, nervous system, biology.protein, Trinucleotide repeat expansion
Abstract

Autistic disorder (MIM 209850) is currently viewed as a neurodevelopmental disease. Reelin plays a pivotal role in the development of laminar structures including the cerebral cortex, hippocampus, cerebellum and of several brainstem nuclei. Neuroanatomical evidence is consistent with Reelin involvement in autistic disorder. In this study, we describe several polymorphisms identified using RNA-SSCP and DNA sequencing. Association and linkage were assessed comparing 95 Italian patients to 186 ethnically-matched controls, and using the transmission/disequilibrium test and haplotype-based haplotype relative risk in 172 complete trios from 165 families collected in Italy and in the USA. Both case-control and family-based analyses yield a significant association between autistic disorder and a polymorphic GGC repeat located immediately 5′ of the reelin gene (RELN) ATG initiator codon, as well as with specific haplotypes formed by this polymorphism with two single-base substitutions located in a splice junction in exon 6 and within exon 50. Triplet repeats located in 5′ untranslated regions (5′UTRs) are indicative of strong transcriptional regulation. Our findings suggest that longer triplet repeats in the 5′UTR of the RELN gene confer vulnerability to autistic disorder.

Published
2001

41. Parasonnie ed enuresi notturna

Author

BRAVACCIO C, CASCELLA R, CHIANESE M, D'AMICO F, PASCOTTO C, SANTANGELO M. P, SPIGAPIENA R, GRITTI A., CAROTENUTO, Marco, Bravaccio, Carmela, Carotenuto, M, Cascella, R, Chianese, M, D’Amico, F, Pascotto, C, Santangelo, Mp, Spigapiena, R, Gritti, A., Bravaccio, C, Carotenuto, Marco, D'Amico, F, and SANTANGELO M., P

Subjects
Nocturnal enuresi, sleep disorders
Abstract

The purpose of this study is to evaluate the relationship between primary nocturnal enuresis and parasomnias. The parasomnias consist of clinical disorders that are not abnormalities of the processes responsible for sleep and awake states but, rather, are undesirable physical phenomena that occur predominantly during sleep. Parasomnias in children include most commonly: sleepwalking, night terrors, somniloquy, nocturnal enuresis, sleep bruxism, and body rocking. They are common in childhood and adolescence, and may result in significant distress to the victim and/or family members, and occasionally result in violent and injurious behavior

Published
1999

44. The predictive value of ABCB1, ABCG2, CYP3A4/5 and CYP2D6 polymorphisms for risperidone and aripiprazole plasma concentrations and the occurrence of adverse drug reactions

Author

Rafaniello, C, Sessa, M, Bernardi, F F, Pozzi, M, Cheli, S, Cattaneo, D, Baldelli, S, Molteni, M, Bernardini, R, Rossi, F, Clementi, E, Bravaccio, C, Radice, S, and Capuano, A

Abstract

We investigated in ninety Caucasian pediatric patients the impact of the main polymorphisms occurring in CYP3A, CYP2D6, ABCB1 and ABCG2 genes on second-generation antipsychotics plasma concentrations, and their association with the occurrence of adverse drug reactions. Patients with the CA/AA ABCG2 genotype had a statistically significant lower risperidone plasma concentration/dose ratio (Ct/ds) (P-value: 0.007) and an higher estimated marginal probability of developing metabolism and nutrition disorders as compared to the ABCG2 c.421 non-CA/AA genotypes (P-value: 0.008). Multivariate analysis revealed that the ABCG2 c.421 CA/AA genotype was found associated to a higher hazard (P-value: 0.004) of developing adverse drug reactions classified as metabolism and nutrition disorders. The ABCB1 2677TT/3435TT genotype had a statistically significant lower aripiprazole Ct/ds if compared with patients with others ABCB1 genotypes (P-value: 0.026). Information obtained on ABCB1 and ABCG2 gene variants may result useful to tailor treatments with these drugs in Caucasian pediatric patients.

Published
2018
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46. Lack of association between serotonin transporter gene promoter variants and autistic disorder in two ethnically-distinct samples

Author

Persico, A. M., Militerni, R., Bravaccio, C., Schneider, C., Melmed, R., Damiani, V., Baldi, A., and Keller, F.

Subjects
Male, Serotonin Plasma Membrane Transport Proteins, Membrane Glycoproteins, Adolescent, Base Sequence, Membrane Transport Proteins, Nerve Tissue Proteins, United States, Promoter Regions, Haplotypes, Italy, Genetic, Humans, Female, Autistic Disorder, Carrier Proteins, Child, Preschool, DNA Primers
Published
2000

49. Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1

Author

Palmieri, L, primary, Papaleo, V, additional, Porcelli, V, additional, Scarcia, P, additional, Gaita, L, additional, Sacco, R, additional, Hager, J, additional, Rousseau, F, additional, Curatolo, P, additional, Manzi, B, additional, Militerni, R, additional, Bravaccio, C, additional, Trillo, S, additional, Schneider, C, additional, Melmed, R, additional, Elia, M, additional, Lenti, C, additional, Saccani, M, additional, Pascucci, T, additional, Puglisi-Allegra, S, additional, Reichelt, K-L, additional, and Persico, A M, additional

Published
2008
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50. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression

Author

Lintas, C, primary, Sacco, R, additional, Garbett, K, additional, Mirnics, K, additional, Militerni, R, additional, Bravaccio, C, additional, Curatolo, P, additional, Manzi, B, additional, Schneider, C, additional, Melmed, R, additional, Elia, M, additional, Pascucci, T, additional, Puglisi-Allegra, S, additional, Reichelt, K-L, additional, and Persico, A M, additional

Published
2008
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