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Auteur Daria RIVA |
Documents disponibles écrits par cet auteur (6)



CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder / Sara BULGHERONI ; Stefano D'ARRIGO ; Silvia ESPOSITO ; Matilde TADDEI ; Veronica SALETTI ; Enrico ALFEI ; Francesca Luisa SCIACCA ; Ambra RIZZO ; Chiara PANTALEONI ; Daria RIVA in Journal of Autism and Developmental Disorders, 53-2 (February 2023)
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Titre : CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Sara BULGHERONI, Auteur ; Stefano D'ARRIGO, Auteur ; Silvia ESPOSITO, Auteur ; Matilde TADDEI, Auteur ; Veronica SALETTI, Auteur ; Enrico ALFEI, Auteur ; Francesca Luisa SCIACCA, Auteur ; Ambra RIZZO, Auteur ; Chiara PANTALEONI, Auteur ; Daria RIVA, Auteur Article en page(s) : p.615-623 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75 patients, 11 classified as pathogenic. The complex ASD subjects have higher frequency of pathogenic CNVs with a diagnostic yield of 12.8%. Familiality, cognitive and verbal abilities, severity of autistic symptoms, neuroimaging and neurophysiological findings are not related to genetic data. This study identifies loci of interest for ASD and highlights the importance of a careful phenotypic characterization, as complex ASD is related to higher rate of pathogenic CNVs. En ligne : https://doi.org/10.1007/s10803-020-04833-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495
in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.615-623[article] CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder [Texte imprimé et/ou numérique] / Sara BULGHERONI, Auteur ; Stefano D'ARRIGO, Auteur ; Silvia ESPOSITO, Auteur ; Matilde TADDEI, Auteur ; Veronica SALETTI, Auteur ; Enrico ALFEI, Auteur ; Francesca Luisa SCIACCA, Auteur ; Ambra RIZZO, Auteur ; Chiara PANTALEONI, Auteur ; Daria RIVA, Auteur . - p.615-623.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 53-2 (February 2023) . - p.615-623
Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with a strong genetic basis. We accurately assessed 209 ASD subjects, categorized in complex (47) and essential (162), and performed array comparative genomic hybridization to identify pathogenic and recurrent Copy Number Variants (CNVs). We found 117 CNVs in 75 patients, 11 classified as pathogenic. The complex ASD subjects have higher frequency of pathogenic CNVs with a diagnostic yield of 12.8%. Familiality, cognitive and verbal abilities, severity of autistic symptoms, neuroimaging and neurophysiological findings are not related to genetic data. This study identifies loci of interest for ASD and highlights the importance of a careful phenotypic characterization, as complex ASD is related to higher rate of pathogenic CNVs. En ligne : https://doi.org/10.1007/s10803-020-04833-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=495
Titre : Neurobiology, diagnosis, and treatment in autism: an introduction Type de document : Texte imprimé et/ou numérique Auteurs : Daria RIVA, Auteur Année de publication : 2013 Importance : p.1-10 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217 Neurobiology, diagnosis, and treatment in autism: an introduction [Texte imprimé et/ou numérique] / Daria RIVA, Auteur . - 2013 . - p.1-10.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=217 Exemplaires
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Titre : Neurobiology, diagnosis and treatment in autism : An update Type de document : Texte imprimé et/ou numérique Auteurs : Daria RIVA, Directeur de publication ; Sara BULGHERONI, Directeur de publication ; Michele ZAPPELLA, Directeur de publication Editeur : Montrouge [France] : John Libbey Eurotext Année de publication : 2013 Collection : Mariani Foundation paediatric neurology series, ISSN 0969-0301 num. 26 Importance : 229 p. Présentation : ill. Format : 17,5cm x 25cm x 1,5cm ISBN/ISSN/EAN : 978-2-7420-0836-0 Note générale : Bibliogr. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : This volume provides advances in current knowledge on the diagnosis, neurobiology, pharmacologic therapy, and rehabilitation methods in autism, suggesting a potential influence on professional practice and enabling an up-to-date approach to effective diagnosis and treatment. Autism is an extremely complex neurodevelopmental disorder that is expressed in a spectrum of phenotypes and is characterized by impaired reciprocal social communication and stereotyped patterns of interests and activities. Its aetiopathogenesis remains poorly understood. It has become clear that causative genes interact with environmental factors in generating the disorder, but the molecular and pathogenic mechanisms causing the expression of the resulting mutations are not at all obvious. The candidate genes implicate an involvement of numerous brain regions and a concomitant malfunctioning of neurotransmitter, immunologic, and other mechanisms. These topics are reviewed in different presentations. Additionally, since the disorder lasts over the lifetime, other chapters focus on early intervention, discussing the most incisive rehabilitation models in their original formulation and the results achieved with the same or similar protocols in Italian centres. Finally, strong attention is paid to the psychopharmacologic options for the condition of autism per se and for its associated, very frequent, comorbidities. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=216 Neurobiology, diagnosis and treatment in autism : An update [Texte imprimé et/ou numérique] / Daria RIVA, Directeur de publication ; Sara BULGHERONI, Directeur de publication ; Michele ZAPPELLA, Directeur de publication . - Montrouge [France] : John Libbey Eurotext, 2013 . - 229 p. : ill. ; 17,5cm x 25cm x 1,5cm. - (Mariani Foundation paediatric neurology series, ISSN 0969-0301; 26) .
ISBN : 978-2-7420-0836-0
Bibliogr.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Résumé : This volume provides advances in current knowledge on the diagnosis, neurobiology, pharmacologic therapy, and rehabilitation methods in autism, suggesting a potential influence on professional practice and enabling an up-to-date approach to effective diagnosis and treatment. Autism is an extremely complex neurodevelopmental disorder that is expressed in a spectrum of phenotypes and is characterized by impaired reciprocal social communication and stereotyped patterns of interests and activities. Its aetiopathogenesis remains poorly understood. It has become clear that causative genes interact with environmental factors in generating the disorder, but the molecular and pathogenic mechanisms causing the expression of the resulting mutations are not at all obvious. The candidate genes implicate an involvement of numerous brain regions and a concomitant malfunctioning of neurotransmitter, immunologic, and other mechanisms. These topics are reviewed in different presentations. Additionally, since the disorder lasts over the lifetime, other chapters focus on early intervention, discussing the most incisive rehabilitation models in their original formulation and the results achieved with the same or similar protocols in Italian centres. Finally, strong attention is paid to the psychopharmacologic options for the condition of autism per se and for its associated, very frequent, comorbidities. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=216 Contenu
- Neurobiology, diagnosis, and treatment in autism: an introduction / Daria RIVA
- New diagnostic instruments and methods for autism spectrum disorders / So Hyun KIM
- Conventional neuroimaging in autism / Alessandra ERBETTA
- Multimodal imaging of brain connectivity in autism spectrum disorders: an overview / Patrizia CHIESA
- Autism: the genetic viewpoint / Orsetta ZUFFARDI
- Gene–environment interactions in autism spectrum disorder / Antonio M. PERSICO
- GABA is essential for the construction of neuronal circuits early in development: dysfunction in autism spectrum disorders / Rocco PIZZARELLI
- The role of the immune response in autism spectrum disorders / Paul ASHWOOD
- New prospects towards more effective medication for ASDs / Roberta ZANNI
- Pharmacologic treatment of autism in clinical practice / Gabriele MASI
- The TEACCH approach to working with individuals on the autism spectrum: understanding, educating, empowering / Steven E. KROUPA
- Experience using the TEACCH program at the Autism Center of AO San Paolo in Milan: applications and critical aspects / Monica SACCANI
- Applied Behaviour Analysis and the analysis of verbal behaviour in treating autism / Judah B. AXE
- Applied Behaviour Analysis: the Italian experience of the Scuolaba Model for children with autism spectrum disorders / Lucia D’AMATO
- DIR–Developmental, Individual Difference, Relationship-Based Model: the sensory-motor affect connection to progress / Serena WIEDER
- The DIR model in treating autism: an Italian experience / Filippo MURATORI
- Imitation in autism spectrum disorders: from research to treatment / Giacomo VIVANTI
- Social skill training in autism spectrum disorders / Massimo MOLTENI
- A review of methods for facilitating speech in nonverbal children with ASD / Allison LANDERS
- Speech and language therapy intervention from the perspective of a multi-professional approach / Luciano DESTEFANIS
20 notices affichées sur 22, voir les 2 autresExemplaires (1)
Code-barres Cote Support Localisation Section Disponibilité DOC0002543 SCI-D RIV Livre Centre d'Information et de Documentation du CRA Rhône-Alpes SCI - Disciplines Scientifiques Disponible
Titre : Neurodevelopmental Disorders: Cognitive/Behavioural Phenotypes Type de document : Texte imprimé et/ou numérique Auteurs : Daria RIVA, Éditeur scientifique ; Ursula BELLUGI, Éditeur scientifique ; Martha B. DENCKLA, Éditeur scientifique Editeur : Montrouge [France] : John Libbey Eurotext Année de publication : 2005 Collection : Mariani Foundation paediatric neurology series, ISSN 0969-0301 num. 13 Importance : 151 p. Format : 18,0 cm × 25,0 cm × 1,5 cm ISBN/ISSN/EAN : 978-2742-0055-9 Note générale : Bibliogr. Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Résumé : In recent years our approach to neurodevelopmental disorders has undergone extraordinary change. This has resulted from tremendous progress in various several...› Lire la suite disciplines including developmental neuroscience, behavioural and molecular genetics, and developmental neurobiology, and from the very high quality now achievable in neuroimaging and neurophysiological techniques. This publication aims to provide a concise and interdisciplinary approach to the study of the different cognitive/behavioural phenotypes encountered in a wide range of neurodevelopmental disorders. Starting from methodological, nosographic, and assessment premises, the book deals with selected disorders of a defined but still complex genetic aetiology, and concludes with a description of the neuropsychiatric disorders that are most commonly encountered during development. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 Neurodevelopmental Disorders: Cognitive/Behavioural Phenotypes [Texte imprimé et/ou numérique] / Daria RIVA, Éditeur scientifique ; Ursula BELLUGI, Éditeur scientifique ; Martha B. DENCKLA, Éditeur scientifique . - Montrouge [France] : John Libbey Eurotext, 2005 . - 151 p. ; 18,0 cm × 25,0 cm × 1,5 cm. - (Mariani Foundation paediatric neurology series, ISSN 0969-0301; 13) .
ISSN : 978-2742-0055-9
Bibliogr.
Langues : Anglais (eng)
Index. décimale : TRO-F TRO-F - Autres Troubles Résumé : In recent years our approach to neurodevelopmental disorders has undergone extraordinary change. This has resulted from tremendous progress in various several...› Lire la suite disciplines including developmental neuroscience, behavioural and molecular genetics, and developmental neurobiology, and from the very high quality now achievable in neuroimaging and neurophysiological techniques. This publication aims to provide a concise and interdisciplinary approach to the study of the different cognitive/behavioural phenotypes encountered in a wide range of neurodevelopmental disorders. Starting from methodological, nosographic, and assessment premises, the book deals with selected disorders of a defined but still complex genetic aetiology, and concludes with a description of the neuropsychiatric disorders that are most commonly encountered during development. [Résumé d'Auteur/Editeur] Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 Contenu
- Neurodevelopmental disorders: from a cognitive neurosciences perspective / Martha B. DENCKLA
- Defining behavioural phenotypes: exploring phenotype/genotype interrelationships / Gregory O'BRIEN
- Tools for assessment of the cognitive and behavioural phenotype / Francesca NICHELLI
- Fragile X syndrome: molecular clinical correlations including an emerging new phenotype in carriers / Randi J. HAGERMAN
- Linking behaviour, brain, and genes in two different genetic syndromes / Ursula BELLUGI
- Turner syndrome: genetic and hormonal influences in the neurocognitive profile / Joanne ROVET
- Tuberous sclerosis complex: from genes to behavioural and cognitive phenotypes / Paolo CURATOLO
- Cognitive phenotype of Duchenne muscular dystrophy / Veronica J. HINTON
- Neurocognitive phenotypes of dyslexia / Giovanna ZARDINI
- The phenotypes of specifie language impairment in child development / Anna M. CHILOSI
- The cognitive/behavioural phenotype in autism / Daria RIVA
- Behavioural and cognitive phenotypes of attention deficit hyperactivity disorder / Alessandro ZUDDAS
- Cognitive phenotypes of mood disorders: neurobiological correlates / Roger A. BRUMBACK
- Gilles De La Tourette syndrome and the obsessive-compulsive spectrum
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Code-barres Cote Support Localisation Section Disponibilité DOC0002155 TRO-F RIV Livre Centre d'Information et de Documentation du CRA Rhône-Alpes TRO - Autres Troubles Disponible
Titre : The cognitive/behavioural phenotype in autism Type de document : Texte imprimé et/ou numérique Auteurs : Daria RIVA, Auteur ; Francesca NICHELLI, Auteur ; Chiara VAGO, Auteur ; Sara BULGHERONI, Auteur Année de publication : 2005 Importance : p.107-116 Langues : Anglais (eng) Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 The cognitive/behavioural phenotype in autism [Texte imprimé et/ou numérique] / Daria RIVA, Auteur ; Francesca NICHELLI, Auteur ; Chiara VAGO, Auteur ; Sara BULGHERONI, Auteur . - 2005 . - p.107-116.
Langues : Anglais (eng)
Index. décimale : TRO-F TRO-F - Autres Troubles Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=161 Exemplaires
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