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

Correction to: Insomnia in Children with Autism Spectrum Disorder: A Cross-Sectional Study on Clinical Correlates and Parental Stress / Bianca BERLOCO in Journal of Autism and Developmental Disorders, 53-4 (April 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-4 (April 2023) . - p.1733-1733 Titre : Correction to: Insomnia in Children with Autism Spectrum Disorder: A Cross-Sectional Study on Clinical Correlates and Parental Stress Type de document : texte imprimé Auteurs : Bianca BERLOCO, Auteur ; Silvia GUERRERA, Auteur ; Elisa FUCA, Auteur ; Deny MENGHINI, Auteur ; Giovanni VALERI, Auteur ; Lino NOBILI, Auteur ; Stefano VICARI, Auteur Article en page(s) : p.1733-1733 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-023-05955-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 [article] Correction to: Insomnia in Children with Autism Spectrum Disorder: A Cross-Sectional Study on Clinical Correlates and Parental Stress [texte imprimé] / Bianca BERLOCO, Auteur ; Silvia GUERRERA, Auteur ; Elisa FUCA, Auteur ; Deny MENGHINI, Auteur ; Giovanni VALERI, Auteur ; Lino NOBILI, Auteur ; Stefano VICARI, Auteur . - p.1733-1733. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-4 (April 2023) . - p.1733-1733 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1007/s10803-023-05955-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500

Learning by observation and learning by doing in Prader-Willi syndrome / Francesca FOTI in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.6 Titre : Learning by observation and learning by doing in Prader-Willi syndrome Type de document : texte imprimé Auteurs : Francesca FOTI, Auteur ; Deny MENGHINI, Auteur ; Enzo ORLANDI, Auteur ; Cristina RUFINI, Auteur ; A. CRINO, Auteur ; Sabrina SPERA, Auteur ; Stefano VICARI, Auteur ; Laura PETROSINI, Auteur ; Laura MANDOLESI, Auteur Article en page(s) : p.6 Langues : Anglais (eng) Mots-clés : Genetic disorders  Imitation  Learning by trial and error  Observational learning  Sequential learning  Social learning Index. décimale : PER Périodiques Résumé : BACKGROUND: New competencies may be learned through active experience (learning by doing) or observation of others' experience (learning by observation). Observing another person performing a complex action accelerates the observer's acquisition of the same action, limiting the time-consuming process of learning by doing. Here, we compared learning by observation and learning by doing in individuals with Prader-Willi syndrome (PWS). It is hypothesized that PWS individuals could show more difficulties with learning by observation than learning by doing because of their specific difficulty in interpreting and using social information. METHODS: The performance of 24 PWS individuals was compared with that of 28 mental age (MA)- and gender-matched typically developing (TD) children in tasks of learning a visuo-motor sequence by observation or by doing. To determine whether the performance pattern exhibited by PWS participants was specific to this population or whether it was a nonspecific intellectual disability effect, we compared the PWS performances with those of a third MA- and gender-matched group of individuals with Williams syndrome (WS). RESULTS: PWS individuals were severely impaired in detecting a sequence by observation, were able to detect a sequence by doing, and became as efficient as TD children in reproducing an observed sequence after a task of learning by doing. The learning pattern of PWS children was reversed compared with that of WS individuals. CONCLUSIONS: The observational learning deficit in PWS individuals may be rooted, at least partially, in their incapacity to understand and/or use social information. En ligne : http://dx.doi.org/10.1186/s11689-015-9102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347 [article] Learning by observation and learning by doing in Prader-Willi syndrome [texte imprimé] / Francesca FOTI, Auteur ; Deny MENGHINI, Auteur ; Enzo ORLANDI, Auteur ; Cristina RUFINI, Auteur ; A. CRINO, Auteur ; Sabrina SPERA, Auteur ; Stefano VICARI, Auteur ; Laura PETROSINI, Auteur ; Laura MANDOLESI, Auteur . - p.6. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.6 Mots-clés : Genetic disorders  Imitation  Learning by trial and error  Observational learning  Sequential learning  Social learning Index. décimale : PER Périodiques Résumé : BACKGROUND: New competencies may be learned through active experience (learning by doing) or observation of others' experience (learning by observation). Observing another person performing a complex action accelerates the observer's acquisition of the same action, limiting the time-consuming process of learning by doing. Here, we compared learning by observation and learning by doing in individuals with Prader-Willi syndrome (PWS). It is hypothesized that PWS individuals could show more difficulties with learning by observation than learning by doing because of their specific difficulty in interpreting and using social information. METHODS: The performance of 24 PWS individuals was compared with that of 28 mental age (MA)- and gender-matched typically developing (TD) children in tasks of learning a visuo-motor sequence by observation or by doing. To determine whether the performance pattern exhibited by PWS participants was specific to this population or whether it was a nonspecific intellectual disability effect, we compared the PWS performances with those of a third MA- and gender-matched group of individuals with Williams syndrome (WS). RESULTS: PWS individuals were severely impaired in detecting a sequence by observation, were able to detect a sequence by doing, and became as efficient as TD children in reproducing an observed sequence after a task of learning by doing. The learning pattern of PWS children was reversed compared with that of WS individuals. CONCLUSIONS: The observational learning deficit in PWS individuals may be rooted, at least partially, in their incapacity to understand and/or use social information. En ligne : http://dx.doi.org/10.1186/s11689-015-9102-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=347

Sleep Disturbances and Co-sleeping in Italian Children and Adolescents with Autism Spectrum Disorder / Serena SCARPELLI in Journal of Autism and Developmental Disorders, 55-11 (November 2025)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 55-11 (November 2025) . - p.4137-4152 Titre : Sleep Disturbances and Co-sleeping in Italian Children and Adolescents with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Serena SCARPELLI, Auteur ; Deny MENGHINI, Auteur ; Valentina ALFONSI, Auteur ; Francesca GIUMELLO, Auteur ; Ludovica ANNARUMMA, Auteur ; Maurizio GORGONI, Auteur ; Giovanni VALERI, Auteur ; Mariella PAZZAGLIA, Auteur ; Luigi DE GENNARO, Auteur ; Stefano VICARI, Auteur Article en page(s) : p.4137-4152 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The current study aimed (1) to provide an analysis of the frequency and prevalence of sleep disturbances in a large Italian sample of children and adolescents with ASD, detecting specific predictors of the presence/absence of sleep disorders, (2) to examine the phenomenon of co-sleeping within a subgroup of participants with ASD. A total of 242 children and adolescents with ASD (194 males, mean age 5.03 ± 3.15 years) were included. After the diagnostic procedure, caregivers were requested to complete the Sleep Disturbance Scale for Children (SDSC) to assess sleep disorders among participants. The presence of co-sleeping was investigated in a subgroup of 146 children and adolescents with ASD. An elevated or clinically relevant global score for sleep disorders (≥ 60) was found in 33% of participants. The most prevalent sleep disorder in our group was related to difficulties with sleep onset and sleep maintenance (~ 41% of cases). Sleep disturbances were predicted by higher intelligence quotient (IQ)/developmental quotient (DQ), increased internalizing problems, and elevated parental stress. The subgroup of participants engaged in co-sleeping (N = 87) were younger and had lower IQ/DQ scores, reduced adaptive functioning, and diminished psychological wellbeing than the non-co-sleeping group. Our findings are consistent with the current literature highlighting that insomnia is the most widespread sleep problem associated with ASD. The relationship between IQ/DQ and sleep alterations is a crucial topic that deserves additional research. Future studies should assess sleep by objective measures such as EEG topography to better understand the mechanisms underlying sleep alterations in this neurodevelopmental disorder. En ligne : https://doi.org/10.1007/s10803-024-06507-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570 [article] Sleep Disturbances and Co-sleeping in Italian Children and Adolescents with Autism Spectrum Disorder [texte imprimé] / Serena SCARPELLI, Auteur ; Deny MENGHINI, Auteur ; Valentina ALFONSI, Auteur ; Francesca GIUMELLO, Auteur ; Ludovica ANNARUMMA, Auteur ; Maurizio GORGONI, Auteur ; Giovanni VALERI, Auteur ; Mariella PAZZAGLIA, Auteur ; Luigi DE GENNARO, Auteur ; Stefano VICARI, Auteur . - p.4137-4152. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 55-11 (November 2025) . - p.4137-4152 Index. décimale : PER Périodiques Résumé : The current study aimed (1) to provide an analysis of the frequency and prevalence of sleep disturbances in a large Italian sample of children and adolescents with ASD, detecting specific predictors of the presence/absence of sleep disorders, (2) to examine the phenomenon of co-sleeping within a subgroup of participants with ASD. A total of 242 children and adolescents with ASD (194 males, mean age 5.03 ± 3.15 years) were included. After the diagnostic procedure, caregivers were requested to complete the Sleep Disturbance Scale for Children (SDSC) to assess sleep disorders among participants. The presence of co-sleeping was investigated in a subgroup of 146 children and adolescents with ASD. An elevated or clinically relevant global score for sleep disorders (≥ 60) was found in 33% of participants. The most prevalent sleep disorder in our group was related to difficulties with sleep onset and sleep maintenance (~ 41% of cases). Sleep disturbances were predicted by higher intelligence quotient (IQ)/developmental quotient (DQ), increased internalizing problems, and elevated parental stress. The subgroup of participants engaged in co-sleeping (N = 87) were younger and had lower IQ/DQ scores, reduced adaptive functioning, and diminished psychological wellbeing than the non-co-sleeping group. Our findings are consistent with the current literature highlighting that insomnia is the most widespread sleep problem associated with ASD. The relationship between IQ/DQ and sleep alterations is a crucial topic that deserves additional research. Future studies should assess sleep by objective measures such as EEG topography to better understand the mechanisms underlying sleep alterations in this neurodevelopmental disorder. En ligne : https://doi.org/10.1007/s10803-024-06507-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570

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