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

Brief Report: Self-Based and Mechanical-Based Future Thinking in Children with Autism Spectrum Disorder / A. MARINI in Journal of Autism and Developmental Disorders, 46-10 (October 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-10 (October 2016) . - p.3353-3360 Titre : Brief Report: Self-Based and Mechanical-Based Future Thinking in Children with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : A. MARINI, Auteur ; F. FERRETTI, Auteur ; A. CHIERA, Auteur ; R. MAGNI, Auteur ; I. ADORNETTI, Auteur ; S. NICCHIARELLI, Auteur ; S. VICARI, Auteur ; G. VALERI, Auteur Article en page(s) : p.3353-3360 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Self-based future thinking  Mechanical-based future thinking  Scene construction Index. décimale : PER Périodiques Résumé : This brief report is a partial replication of the study by Jackson and Atance (J Dev Disabil 14:40–45, 2008) assessing nonverbal Self-based and Mechanical-based future thinking (FT) in children with Autism Spectrum Disorder (ASD). In a first step, these tasks were administered to 30 children with ASD. The two Self-based tasks were then modified as a verbal component could not be completely ruled out. Consequently, 77 children with ASD and 77 children with typical development received the modified Self-based FT tasks and the Mechanical-based FT tasks. We partially replicated the previous findings. Participants with ASD had impaired FT in both kinds of tasks and both groups performed better on tasks assessing Mechanical-based FT than Self-based FT. These results suggest that impairments of FT in ASD are not limited to Self-Projection. En ligne : http://dx.doi.org/10.1007/s10803-016-2867-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293 [article] Brief Report: Self-Based and Mechanical-Based Future Thinking in Children with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / A. MARINI, Auteur ; F. FERRETTI, Auteur ; A. CHIERA, Auteur ; R. MAGNI, Auteur ; I. ADORNETTI, Auteur ; S. NICCHIARELLI, Auteur ; S. VICARI, Auteur ; G. VALERI, Auteur . - p.3353-3360. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-10 (October 2016) . - p.3353-3360 Mots-clés : Autism Spectrum Disorder  Self-based future thinking  Mechanical-based future thinking  Scene construction Index. décimale : PER Périodiques Résumé : This brief report is a partial replication of the study by Jackson and Atance (J Dev Disabil 14:40–45, 2008) assessing nonverbal Self-based and Mechanical-based future thinking (FT) in children with Autism Spectrum Disorder (ASD). In a first step, these tasks were administered to 30 children with ASD. The two Self-based tasks were then modified as a verbal component could not be completely ruled out. Consequently, 77 children with ASD and 77 children with typical development received the modified Self-based FT tasks and the Mechanical-based FT tasks. We partially replicated the previous findings. Participants with ASD had impaired FT in both kinds of tasks and both groups performed better on tasks assessing Mechanical-based FT than Self-based FT. These results suggest that impairments of FT in ASD are not limited to Self-Projection. En ligne : http://dx.doi.org/10.1007/s10803-016-2867-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=293

Clinical and individual features associated with maternal stress in young adolescents with autism spectrum disorder / F. SCIBELLI in Autism Research, 14-9 (September 2021)  

Public ISBD [article]  inAutism Research > 14-9 (September 2021) . - p.1935-1947 Titre : Clinical and individual features associated with maternal stress in young adolescents with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : F. SCIBELLI, Auteur ; E. FUCÀ, Auteur ; S. GUERRERA, Auteur ; E. LUPI, Auteur ; Paolo ALFIERI, Auteur ; G. VALERI, Auteur ; S. VICARI, Auteur Article en page(s) : p.1935-1947 Langues : Anglais (eng) Mots-clés : Adolescent  Autism Spectrum Disorder/complications  Child  Female  Humans  Mothers  Parenting  Parents  Problem Behavior  Stress, Psychological/complications  adolescence  autism symptoms  cognitive  emotional and behavioral problems  maternal stress  parent mediated therapy  socio-demographic features Index. décimale : PER Périodiques Résumé : Parents of people with autism spectrum disorder experience both negative stressful and positive events. Several clinical and socio-demographic features of children on the autism spectrum have been associated with parenting stress in their families. However, there have been few studies that focus on adolescents and the role of cognitive impairment has rarely been addressed. The main aim of the present research is to explore associations between autism symptoms, cognitive impairment, emotional and behavioral problems, socio-demographic features, and maternal stress in a sample of young adolescents with Autism Spectrum Disorder with and without cognitive impairment. Cognitive impairment and emotional and behavioral problems are associated with maternal stress, while autism symptoms seem to play a minor role. Maternal education and occupation are only associated with maternal stress in the group with cognitive impairment, while maternal age is stress-associated in the group of adolescents without cognitive impairment. Age-related implications for intervention and future research directions are discussed. LAY SUMMARY: Parents of individuals on the autism spectrum are exposed to both negative stressful and enriching experiences during their parenthood. While the influence of several child characteristics and socio-demographic features on parental stress during childhood has been widely explored in past studies, studies on teenagers are limited. The aim of the present research is to explore the influence of several characteristics on maternal stress levels in families with teenagers on the autism spectrum. We found that cognitive impairment and emotional and behavioral problems are associated with maternal stress, while autism symptoms seem to play a minor role. Socio-demographic features are not associated with maternal stress. Broadly speaking, the subjective perception of parental distress in both groups is less related to teenagers' characteristics then the perception of having a difficult interaction with the teenagers. We divided our participants into two groups (one group with cognitive impairment and the other group without). We found that mothers of teenagers with cognitive impairment are generally more stressed compared to the other group. Furthermore, we confirm that emotional and behavioral problems seem to play a major role in maternal stress (especially in the group without cognitive impairment), while autism symptoms seem to play a minor role. Furthermore, we found that maternal education/occupation and maternal age are associated with maternal stress in the group with and the group without cognitive impairment respectively. This research highlights the association between several variables and stress in mothers of adolescents on the spectrum. Results are discussed in the framework of previous findings highlighting the lack of adequate care and support services for families, especially for those of adolescents on the spectrum with cognitive impairment. En ligne : http://dx.doi.org/10.1002/aur.2539 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Clinical and individual features associated with maternal stress in young adolescents with autism spectrum disorder [Texte imprimé et/ou numérique] / F. SCIBELLI, Auteur ; E. FUCÀ, Auteur ; S. GUERRERA, Auteur ; E. LUPI, Auteur ; Paolo ALFIERI, Auteur ; G. VALERI, Auteur ; S. VICARI, Auteur . - p.1935-1947. Langues : Anglais (eng) in Autism Research > 14-9 (September 2021) . - p.1935-1947 Mots-clés : Adolescent  Autism Spectrum Disorder/complications  Child  Female  Humans  Mothers  Parenting  Parents  Problem Behavior  Stress, Psychological/complications  adolescence  autism symptoms  cognitive  emotional and behavioral problems  maternal stress  parent mediated therapy  socio-demographic features Index. décimale : PER Périodiques Résumé : Parents of people with autism spectrum disorder experience both negative stressful and positive events. Several clinical and socio-demographic features of children on the autism spectrum have been associated with parenting stress in their families. However, there have been few studies that focus on adolescents and the role of cognitive impairment has rarely been addressed. The main aim of the present research is to explore associations between autism symptoms, cognitive impairment, emotional and behavioral problems, socio-demographic features, and maternal stress in a sample of young adolescents with Autism Spectrum Disorder with and without cognitive impairment. Cognitive impairment and emotional and behavioral problems are associated with maternal stress, while autism symptoms seem to play a minor role. Maternal education and occupation are only associated with maternal stress in the group with cognitive impairment, while maternal age is stress-associated in the group of adolescents without cognitive impairment. Age-related implications for intervention and future research directions are discussed. LAY SUMMARY: Parents of individuals on the autism spectrum are exposed to both negative stressful and enriching experiences during their parenthood. While the influence of several child characteristics and socio-demographic features on parental stress during childhood has been widely explored in past studies, studies on teenagers are limited. The aim of the present research is to explore the influence of several characteristics on maternal stress levels in families with teenagers on the autism spectrum. We found that cognitive impairment and emotional and behavioral problems are associated with maternal stress, while autism symptoms seem to play a minor role. Socio-demographic features are not associated with maternal stress. Broadly speaking, the subjective perception of parental distress in both groups is less related to teenagers' characteristics then the perception of having a difficult interaction with the teenagers. We divided our participants into two groups (one group with cognitive impairment and the other group without). We found that mothers of teenagers with cognitive impairment are generally more stressed compared to the other group. Furthermore, we confirm that emotional and behavioral problems seem to play a major role in maternal stress (especially in the group without cognitive impairment), while autism symptoms seem to play a minor role. Furthermore, we found that maternal education/occupation and maternal age are associated with maternal stress in the group with and the group without cognitive impairment respectively. This research highlights the association between several variables and stress in mothers of adolescents on the spectrum. Results are discussed in the framework of previous findings highlighting the lack of adequate care and support services for families, especially for those of adolescents on the spectrum with cognitive impairment. En ligne : http://dx.doi.org/10.1002/aur.2539 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Early developmental trajectories of expressive vocabulary and gesture production in a longitudinal cohort of Italian infants at high-risk for Autism Spectrum Disorder / V. RIVA in Autism Research, 14-7 (July 2021)  

Public ISBD [article]  inAutism Research > 14-7 (July 2021) . - p.1421-1433 Titre : Early developmental trajectories of expressive vocabulary and gesture production in a longitudinal cohort of Italian infants at high-risk for Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : V. RIVA, Auteur ; A. CARUSO, Auteur ; Fabio APICELLA, Auteur ; G. VALERI, Auteur ; S. VICARI, Auteur ; M. MOLTENI, Auteur ; M. L. SCATTONI, Auteur Article en page(s) : p.1421-1433 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Gestures  Humans  Infant  Italy  Language Development Disorders  Vocabulary  developmental trajectory  expressive language  gesture  infant sibling Index. décimale : PER Périodiques Résumé : Delays in language are a hallmark feature of Autism Spectrum Disorder (ASD). However, little is known about the predictive role of language developmental trajectories on ASD. The present study aimed at identifying early different language developmental profiles of infants at high familial risk for ASD (HR-ASD) and testing their predictive role on ASD symptoms at 2?years. The role of gestures on socio-communicative skills has also been explored. Trajectories of expressive vocabulary were investigated in 137 HR-ASD infants at 12, 18, and, 24?months of age. Parents were requested to complete the Italian version of the MacArthur-Bates Communicative Development Inventory and ASD symptoms were measured by ADOS-2. Latent class growth analysis defined four trajectories: above average language development group (above-average LD, 18.2%), normal language development group (NLD, 38.7%), late-onset language development group (late-onset LD, 11.7%), and a group of children with stable language delay (SLD, 31.4%). Results showed that the SLD group obtained higher communicative difficulties and restricted/repetitive behavior compared to the other groups. Examining early increase of produced gestures in the different language classes, we found fewer produced gestures between 12 and 18?months in the SLD group compared to the late-onset LD group. The results identified clusters of HR infants who follow similar estimated trajectories based on individual differences in language development. These patterns of early language acquisition, together with produced gestures, may be predictive of later ASD symptoms and useful for planning prompt intervention. LAY SUMMARY: Language/gesture deficits are hallmark features of Autism Spectrum Disorder (ASD), but the predictive role of communicative trajectories on ASD remains unclear. In a longitudinal Italian sample of infants at high familial risk for ASD (HR-ASD), we tested if language trajectories and their link with gestures can predict ASD symptoms. We found four trajectories and HR infants with a stable language delay (SLD) trajectory showed more ASD symptoms later on. SLD infants produced fewer gestures compared to late-onset language development group that show more typical communicative skills. En ligne : http://dx.doi.org/10.1002/aur.2493 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Early developmental trajectories of expressive vocabulary and gesture production in a longitudinal cohort of Italian infants at high-risk for Autism Spectrum Disorder [Texte imprimé et/ou numérique] / V. RIVA, Auteur ; A. CARUSO, Auteur ; Fabio APICELLA, Auteur ; G. VALERI, Auteur ; S. VICARI, Auteur ; M. MOLTENI, Auteur ; M. L. SCATTONI, Auteur . - p.1421-1433. Langues : Anglais (eng) in Autism Research > 14-7 (July 2021) . - p.1421-1433 Mots-clés : Autism Spectrum Disorder  Child  Gestures  Humans  Infant  Italy  Language Development Disorders  Vocabulary  developmental trajectory  expressive language  gesture  infant sibling Index. décimale : PER Périodiques Résumé : Delays in language are a hallmark feature of Autism Spectrum Disorder (ASD). However, little is known about the predictive role of language developmental trajectories on ASD. The present study aimed at identifying early different language developmental profiles of infants at high familial risk for ASD (HR-ASD) and testing their predictive role on ASD symptoms at 2?years. The role of gestures on socio-communicative skills has also been explored. Trajectories of expressive vocabulary were investigated in 137 HR-ASD infants at 12, 18, and, 24?months of age. Parents were requested to complete the Italian version of the MacArthur-Bates Communicative Development Inventory and ASD symptoms were measured by ADOS-2. Latent class growth analysis defined four trajectories: above average language development group (above-average LD, 18.2%), normal language development group (NLD, 38.7%), late-onset language development group (late-onset LD, 11.7%), and a group of children with stable language delay (SLD, 31.4%). Results showed that the SLD group obtained higher communicative difficulties and restricted/repetitive behavior compared to the other groups. Examining early increase of produced gestures in the different language classes, we found fewer produced gestures between 12 and 18?months in the SLD group compared to the late-onset LD group. The results identified clusters of HR infants who follow similar estimated trajectories based on individual differences in language development. These patterns of early language acquisition, together with produced gestures, may be predictive of later ASD symptoms and useful for planning prompt intervention. LAY SUMMARY: Language/gesture deficits are hallmark features of Autism Spectrum Disorder (ASD), but the predictive role of communicative trajectories on ASD remains unclear. In a longitudinal Italian sample of infants at high familial risk for ASD (HR-ASD), we tested if language trajectories and their link with gestures can predict ASD symptoms. We found four trajectories and HR infants with a stable language delay (SLD) trajectory showed more ASD symptoms later on. SLD infants produced fewer gestures compared to late-onset language development group that show more typical communicative skills. En ligne : http://dx.doi.org/10.1002/aur.2493 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Learning by observation and learning by doing in Prader-Willi syndrome / F. 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 et/ou numérique Auteurs : F. FOTI, Auteur ; D. MENGHINI, Auteur ; E. ORLANDI, Auteur ; C. RUFINI, Auteur ; A. CRINO, Auteur ; S. SPERA, Auteur ; S. VICARI, Auteur ; L. PETROSINI, Auteur ; L. 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 et/ou numérique] / F. FOTI, Auteur ; D. MENGHINI, Auteur ; E. ORLANDI, Auteur ; C. RUFINI, Auteur ; A. CRINO, Auteur ; S. SPERA, Auteur ; S. VICARI, Auteur ; L. PETROSINI, Auteur ; L. 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

Measurement invariance of the Childhood Autism Rating Scale (CARS) across six countries / D. STEVANOVIC in Autism Research, 14-12 (December 2021)  

Permalink

---

1 (1 - 6 / 6)