Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders / E. NAPOLI in Journal of Autism and Developmental Disorders, 48-2 (February 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.442-449 Titre : Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : E. NAPOLI, Auteur ; S. RUSSO, Auteur ; Laura CASULA, Auteur ; V. ALESI, Auteur ; F. A. AMENDOLA, Auteur ; A. ANGIONI, Auteur ; A. NOVELLI, Auteur ; G. VALERI, Auteur ; D. MENGHINI, Auteur ; S. VICARI, Auteur Article en page(s) : p.442-449 Langues : Anglais (eng) Mots-clés : Asd  CNVs  Children  Clinical phenotype  Cognitive development  Genetic investigation Index. décimale : PER Périodiques Résumé : Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD. En ligne : https://doi.org/10.1007/s10803-017-3329-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337 [article] Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders [Texte imprimé et/ou numérique] / E. NAPOLI, Auteur ; S. RUSSO, Auteur ; Laura CASULA, Auteur ; V. ALESI, Auteur ; F. A. AMENDOLA, Auteur ; A. ANGIONI, Auteur ; A. NOVELLI, Auteur ; G. VALERI, Auteur ; D. MENGHINI, Auteur ; S. VICARI, Auteur . - p.442-449. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-2 (February 2018) . - p.442-449 Mots-clés : Asd  CNVs  Children  Clinical phenotype  Cognitive development  Genetic investigation Index. décimale : PER Périodiques Résumé : Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29 children had non-causative CNVs (NC-CNVs) and 92 children without CNVs (W-CNVs). Results on clinical evaluation showed no differences in cognitive abilities among the three groups, and a higher number of ASD symptoms and of non-verbal children in the C-CNVs group compared to the W-CNVs and NC-CNVs groups. Our results highlighted the importance of the array-CGH analyses and showed that the presence of specific CNVs may differentiate clinical outputs in children with ASD. En ligne : https://doi.org/10.1007/s10803-017-3329-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=337

Executive Functions and Symptom Severity in an Italian Sample of Intellectually Able Preschoolers with Autism Spectrum Disorder / Giovanni VALERI in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3207-3215 Titre : Executive Functions and Symptom Severity in an Italian Sample of Intellectually Able Preschoolers with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Giovanni VALERI, Auteur ; Laura CASULA, Auteur ; Eleonora NAPOLI, Auteur ; Paolo STIEVANO, Auteur ; Barbara TRIMARCO, Auteur ; Stefano VICARI, Auteur ; Teresa Gloria SCALISI, Auteur Article en page(s) : p.3207-3215 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Executive functions  Inhibition  Preschoolers  Shifting  Working memory Index. décimale : PER Périodiques Résumé : A novel battery (BAFE; Valeri et al. 2015) was used in order to assess three executive function (EF) abilities (working memory, inhibition and shifting) in a sample of 27 intellectually able preschoolers with autism spectrum disorder (ASD) compared with 27 typically developing children matched on age and nonverbal IQ. Differences in EF skills were analyzed in participants with distinct ASD symptom severity. Children with ASD performed worse than typical controls on both set-shifting and inhibition, but not on visuo-spatial working memory. Additionally, children with more severe ASD symptoms showed a worse performance on inhibition than children with milder symptoms. These results confirm the presence of EF deficits and highlight a link between ASD symptoms and EF impairments in preschool age. En ligne : http://dx.doi.org/10.1007/s10803-019-04102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Executive Functions and Symptom Severity in an Italian Sample of Intellectually Able Preschoolers with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Giovanni VALERI, Auteur ; Laura CASULA, Auteur ; Eleonora NAPOLI, Auteur ; Paolo STIEVANO, Auteur ; Barbara TRIMARCO, Auteur ; Stefano VICARI, Auteur ; Teresa Gloria SCALISI, Auteur . - p.3207-3215. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3207-3215 Mots-clés : Autism spectrum disorder  Executive functions  Inhibition  Preschoolers  Shifting  Working memory Index. décimale : PER Périodiques Résumé : A novel battery (BAFE; Valeri et al. 2015) was used in order to assess three executive function (EF) abilities (working memory, inhibition and shifting) in a sample of 27 intellectually able preschoolers with autism spectrum disorder (ASD) compared with 27 typically developing children matched on age and nonverbal IQ. Differences in EF skills were analyzed in participants with distinct ASD symptom severity. Children with ASD performed worse than typical controls on both set-shifting and inhibition, but not on visuo-spatial working memory. Additionally, children with more severe ASD symptoms showed a worse performance on inhibition than children with milder symptoms. These results confirm the presence of EF deficits and highlight a link between ASD symptoms and EF impairments in preschool age. En ligne : http://dx.doi.org/10.1007/s10803-019-04102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

The teleNIDA: Early Screening of Autism Spectrum Disorder Through a Novel Telehealth Approach / Valentina RIVA in Journal of Autism and Developmental Disorders, 54-5 (May 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-5 (May 2024) . - p.1680-1690 Titre : The teleNIDA: Early Screening of Autism Spectrum Disorder Through a Novel Telehealth Approach Type de document : Texte imprimé et/ou numérique Auteurs : Valentina RIVA, Auteur ; Laura VILLA, Auteur ; Francesca FULCERI, Auteur ; Giuseppe Maurizio ARDUINO, Auteur ; Guido LEONTI, Auteur ; Giovanni VALERI, Auteur ; Laura CASULA, Auteur ; Leonardo ZOCCANTE, Auteur ; Elena PUTTINI, Auteur ; Carla SOGOS, Auteur ; Mariaelena PRESICCE, Auteur ; Arianna BENTENUTO, Auteur ; Fabio APICELLA, Auteur ; Massimo MOLTENI, Auteur ; Maria Luisa SCATTONI, Auteur Article en page(s) : p.1680-1690 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The COVID-19 pandemic has fast-tracked interest in telehealth methods to guarantee the continuity of care of children with Autism Spectrum Disorder (ASD). Store-and-forward telehealth approaches offer the opportunity to facilitate timely screening of ASD, allowing parents to record videos of their child?s behaviors, subsequently shared with clinicians that provide an assessment remotely. This study aimed to examine the psychometric properties of a new telehealth screening tool, the teleNIDA, administered in home settings for remote observation of early signs of ASD in toddlers aged 18-30 months. Results showed good psychometric properties of the teleNIDA, as compared to the gold standard in-person assessment, and the predictive validity on the diagnosis of ASD at 36 months was demonstrated. This study supports the teleNIDA as a promising level 2 screening tool for ASD able to speed up diagnostic and intervention processes. En ligne : https://doi.org/10.1007/s10803-023-05927-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=530 [article] The teleNIDA: Early Screening of Autism Spectrum Disorder Through a Novel Telehealth Approach [Texte imprimé et/ou numérique] / Valentina RIVA, Auteur ; Laura VILLA, Auteur ; Francesca FULCERI, Auteur ; Giuseppe Maurizio ARDUINO, Auteur ; Guido LEONTI, Auteur ; Giovanni VALERI, Auteur ; Laura CASULA, Auteur ; Leonardo ZOCCANTE, Auteur ; Elena PUTTINI, Auteur ; Carla SOGOS, Auteur ; Mariaelena PRESICCE, Auteur ; Arianna BENTENUTO, Auteur ; Fabio APICELLA, Auteur ; Massimo MOLTENI, Auteur ; Maria Luisa SCATTONI, Auteur . - p.1680-1690. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-5 (May 2024) . - p.1680-1690 Index. décimale : PER Périodiques Résumé : The COVID-19 pandemic has fast-tracked interest in telehealth methods to guarantee the continuity of care of children with Autism Spectrum Disorder (ASD). Store-and-forward telehealth approaches offer the opportunity to facilitate timely screening of ASD, allowing parents to record videos of their child?s behaviors, subsequently shared with clinicians that provide an assessment remotely. This study aimed to examine the psychometric properties of a new telehealth screening tool, the teleNIDA, administered in home settings for remote observation of early signs of ASD in toddlers aged 18-30 months. Results showed good psychometric properties of the teleNIDA, as compared to the gold standard in-person assessment, and the predictive validity on the diagnosis of ASD at 36 months was demonstrated. This study supports the teleNIDA as a promising level 2 screening tool for ASD able to speed up diagnostic and intervention processes. En ligne : https://doi.org/10.1007/s10803-023-05927-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=530

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