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Auteur Sara BULGHERONI |
Documents disponibles écrits par cet auteur (5)



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 Developmental profiles of young children with autism spectrum disorder and global developmental delay: A study with the Griffiths III scales / Matilde TADDEI in Autism Research, 16-7 (July 2023)
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[article]
Titre : Developmental profiles of young children with autism spectrum disorder and global developmental delay: A study with the Griffiths III scales Type de document : Texte imprimé et/ou numérique Auteurs : Matilde TADDEI, Auteur ; Sara BULGHERONI, Auteur ; Enrico TOFFALINI, Auteur ; Chiara PANTALEONI, Auteur ; Silvia LANFRANCHI, Auteur Article en page(s) : p.1344-1359 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract The purpose of this study was to identify developmental profiles associated with autism spectrum disorder (ASD) and global developmental delay (DD) in pre-school aged Italian children. Developmental profiles were evaluated by means of a standardized tool widely used for the assessment of psychomotor development in early childhood, the Griffiths III scales, recently adapted and standardized for the Italian population. Specifically, we compared the Griffiths III profiles of children with ASD and DD (ASD?+?DD) with those of children with DD alone. Moreover, we inspected the psychometric function of single items by comparing children with ASD?+?DD and children with DD with typically developing (TD) children from the Griffiths III normative sample. In this way, we aimed to isolate the effects of each diagnostic class on psychomotor abilities and on the psychometric function of single items. The ASD?+?DD and DD groups were found to share the presence of lower age equivalent scores relative to their chronological age in all the developmental domains considered: Foundations of Learning, Language and Communication, Eye and Hand Coordination, Personal-Social-Emotional and Gross Motor Skills. However, the DD group displayed a homogeneous profile with similar levels of delay in all developmental domains, while children with ASD?+?DD exhibited relative weaknesses in the Language and Communication and Personal-Social-Emotional scales. The analysis of the psychometric function drawn for each item has confirmed different profiles in social-communicative and non-verbal items between the two diagnostic groups and in relation to TD normative sample. The Griffiths III is a valid psychometric tool for identifying atypical developmental profiles and its use may be recommended during the diagnostic process of ASD and DD, to detect specific strengths and weaknesses and guide person-centered treatment. En ligne : https://doi.org/10.1002/aur.2953 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510
in Autism Research > 16-7 (July 2023) . - p.1344-1359[article] Developmental profiles of young children with autism spectrum disorder and global developmental delay: A study with the Griffiths III scales [Texte imprimé et/ou numérique] / Matilde TADDEI, Auteur ; Sara BULGHERONI, Auteur ; Enrico TOFFALINI, Auteur ; Chiara PANTALEONI, Auteur ; Silvia LANFRANCHI, Auteur . - p.1344-1359.
Langues : Anglais (eng)
in Autism Research > 16-7 (July 2023) . - p.1344-1359
Index. décimale : PER Périodiques Résumé : Abstract The purpose of this study was to identify developmental profiles associated with autism spectrum disorder (ASD) and global developmental delay (DD) in pre-school aged Italian children. Developmental profiles were evaluated by means of a standardized tool widely used for the assessment of psychomotor development in early childhood, the Griffiths III scales, recently adapted and standardized for the Italian population. Specifically, we compared the Griffiths III profiles of children with ASD and DD (ASD?+?DD) with those of children with DD alone. Moreover, we inspected the psychometric function of single items by comparing children with ASD?+?DD and children with DD with typically developing (TD) children from the Griffiths III normative sample. In this way, we aimed to isolate the effects of each diagnostic class on psychomotor abilities and on the psychometric function of single items. The ASD?+?DD and DD groups were found to share the presence of lower age equivalent scores relative to their chronological age in all the developmental domains considered: Foundations of Learning, Language and Communication, Eye and Hand Coordination, Personal-Social-Emotional and Gross Motor Skills. However, the DD group displayed a homogeneous profile with similar levels of delay in all developmental domains, while children with ASD?+?DD exhibited relative weaknesses in the Language and Communication and Personal-Social-Emotional scales. The analysis of the psychometric function drawn for each item has confirmed different profiles in social-communicative and non-verbal items between the two diagnostic groups and in relation to TD normative sample. The Griffiths III is a valid psychometric tool for identifying atypical developmental profiles and its use may be recommended during the diagnostic process of ASD and DD, to detect specific strengths and weaknesses and guide person-centered treatment. En ligne : https://doi.org/10.1002/aur.2953 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510
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
- 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
- Multimodal imaging of brain connectivity in autism spectrum disorders: an overview / Patrizia CHIESA
- Autism: the genetic viewpoint / Orsetta ZUFFARDI
- 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
- 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
- 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
- Speech and language therapy intervention from the perspective of a multi-professional approach / Luciano DESTEFANIS
- Early psychomotor intervention in the treatment of young children with autism spectrum disorder / Roberto MILITERNI
- Social skill training in autism spectrum disorders / Massimo MOLTENI
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 : 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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Titre : Tools for assessment of the cognitive and behavioural phenotype Type de document : Texte imprimé et/ou numérique Auteurs : Francesca NICHELLI, Auteur ; Sara BULGHERONI, Auteur ; Daria RIVA, Auteur Année de publication : 2005 Importance : p.19-28 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 Tools for assessment of the cognitive and behavioural phenotype [Texte imprimé et/ou numérique] / Francesca NICHELLI, Auteur ; Sara BULGHERONI, Auteur ; Daria RIVA, Auteur . - 2005 . - p.19-28.
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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