Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders / Eleonora 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 Auteurs : Eleonora NAPOLI, Auteur ; Serena RUSSO, Auteur ; Laura CASULA, Auteur ; Viola ALESI, Auteur ; Filomena Alessandra AMENDOLA, Auteur ; Adriano ANGIONI, Auteur ; Antonio NOVELLI, Auteur ; Giovanni VALERI, Auteur ; Deny MENGHINI, Auteur ; Stefano 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] / Eleonora NAPOLI, Auteur ; Serena RUSSO, Auteur ; Laura CASULA, Auteur ; Viola ALESI, Auteur ; Filomena Alessandra AMENDOLA, Auteur ; Adriano ANGIONI, Auteur ; Antonio NOVELLI, Auteur ; Giovanni VALERI, Auteur ; Deny MENGHINI, Auteur ; Stefano 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 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] / 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

Parental Stress and Caregiver Role Modulate Child–Caregiver Prosodic Synchrony in Autism: A Computational Analysis / Maria Grazia LOGRIECO in Autism Research, 19-3 (March 2026)  

Public ISBD [article]  inAutism Research > 19-3 (March 2026) . - e70189 Titre : Parental Stress and Caregiver Role Modulate Child–Caregiver Prosodic Synchrony in Autism: A Computational Analysis Type de document : texte imprimé Auteurs : Maria Grazia LOGRIECO, Auteur ; Giulio BERTAMINI, Auteur ; Laura CASULA, Auteur ; Mohamed CHETOUANI, Auteur ; Silvia GUERRERA, Auteur ; Mirco FASOLO, Auteur ; Paola VENUTI, Auteur ; Maria Luisa SCATTONI, Auteur ; Francesca FULCERI, Auteur ; Stefano VICARI, Auteur ; David COHEN, Auteur ; Giovanni VALERI, Auteur Article en page(s) : e70189 Langues : Anglais (eng) Mots-clés : artificial intelligence  autism  caregiver role  interaction  parents  prosodic synchrony  stress Index. décimale : PER Périodiques Résumé : ABSTRACT Parental stress influences parent?child interactions in typical development and is a prognostic factor of autism outcome. However, we still do not know to what extent parental stress affects parent?child interactions and whether caregiver role matters. This study explored the relationship between parental stress and prosodic synchrony in parent?child vocal interactions, drawing on complex dynamic systems and affective computing frameworks. We assessed 62 dyads (31 autistic preschoolers, interacting separately with their mother and father) during structured play interactions at two time points (12?months apart) along with perceived parental stress. We used a Deep Learning model to segment child-caregiver acoustic interactions with high accuracy automatically. Downstream, prosodic synchrony was modeled through cross-recurrence quantification analysis. Linear mixed-effects models were used to assess the impact of parental stress, caregiver role, and time on synchrony metrics. Models showed significant associations between parental stress and synchrony metrics for spectral and formant amplitude features. Higher stress levels were linked to less stable, predictable, and structured interactions. These effects were more pronounced in father?child dyads compared to mother?child dyads. Permutation analyses confirmed that these associations were specific to moment-to-moment coordination rather than general acoustic similarity. In autistic children, parental stress levels are linked with the temporal dynamics of parent?child prosodic synchrony, specifically affective speech and moment-to-moment coordination. It appears to be more pronounced in fathers. The results underscore the importance of fostering parental well-being and tailoring interventions to account for differences between maternal and paternal interaction patterns in autism. En ligne : https://doi.org/10.1002/aur.70189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=583 [article] Parental Stress and Caregiver Role Modulate Child–Caregiver Prosodic Synchrony in Autism: A Computational Analysis [texte imprimé] / Maria Grazia LOGRIECO, Auteur ; Giulio BERTAMINI, Auteur ; Laura CASULA, Auteur ; Mohamed CHETOUANI, Auteur ; Silvia GUERRERA, Auteur ; Mirco FASOLO, Auteur ; Paola VENUTI, Auteur ; Maria Luisa SCATTONI, Auteur ; Francesca FULCERI, Auteur ; Stefano VICARI, Auteur ; David COHEN, Auteur ; Giovanni VALERI, Auteur . - e70189. Langues : Anglais (eng) in Autism Research > 19-3 (March 2026) . - e70189 Mots-clés : artificial intelligence  autism  caregiver role  interaction  parents  prosodic synchrony  stress Index. décimale : PER Périodiques Résumé : ABSTRACT Parental stress influences parent?child interactions in typical development and is a prognostic factor of autism outcome. However, we still do not know to what extent parental stress affects parent?child interactions and whether caregiver role matters. This study explored the relationship between parental stress and prosodic synchrony in parent?child vocal interactions, drawing on complex dynamic systems and affective computing frameworks. We assessed 62 dyads (31 autistic preschoolers, interacting separately with their mother and father) during structured play interactions at two time points (12?months apart) along with perceived parental stress. We used a Deep Learning model to segment child-caregiver acoustic interactions with high accuracy automatically. Downstream, prosodic synchrony was modeled through cross-recurrence quantification analysis. Linear mixed-effects models were used to assess the impact of parental stress, caregiver role, and time on synchrony metrics. Models showed significant associations between parental stress and synchrony metrics for spectral and formant amplitude features. Higher stress levels were linked to less stable, predictable, and structured interactions. These effects were more pronounced in father?child dyads compared to mother?child dyads. Permutation analyses confirmed that these associations were specific to moment-to-moment coordination rather than general acoustic similarity. In autistic children, parental stress levels are linked with the temporal dynamics of parent?child prosodic synchrony, specifically affective speech and moment-to-moment coordination. It appears to be more pronounced in fathers. The results underscore the importance of fostering parental well-being and tailoring interventions to account for differences between maternal and paternal interaction patterns in autism. En ligne : https://doi.org/10.1002/aur.70189 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=583

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 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] / 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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