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Détail de l'auteur
Auteur Matilde TADDEI |
Documents disponibles écrits par cet auteur (2)
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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)
[article]
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)
[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