Decreased central corpus callosum volume in autistic children is associated with repetitive behaviours and motor skills / Denis PERUZZO ; Filippo ARRIGONI ; Silvia BUSTI CECCARELLI ; Laura VILLA ; Elisa MANI ; Eleonora MAGGIONI ; Paolo BRAMBILLA ; Maria NOBILE ; Massimo MOLTENI ; Alessandro CRIPPA in Research in Autism, 125 (July 2025)  

Public ISBD [article]  inResearch in Autism > 125 (July 2025) . - p.202626 Titre : Decreased central corpus callosum volume in autistic children is associated with repetitive behaviours and motor skills Type de document : Texte imprimé et/ou numérique Auteurs : Denis PERUZZO, Auteur ; Filippo ARRIGONI, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Laura VILLA, Auteur ; Elisa MANI, Auteur ; Eleonora MAGGIONI, Auteur ; Paolo BRAMBILLA, Auteur ; Maria NOBILE, Auteur ; Massimo MOLTENI, Auteur ; Alessandro CRIPPA, Auteur Article en page(s) : p.202626 Langues : Anglais (eng) Mots-clés : Autism  Corpus callosum  Magnetic resonance imaging  Restricted repetitive behaviours  Motor skills Index. décimale : PER Périodiques Résumé : Introduction Along with the core characteristics of the condition, autistic individuals commonly experience motor coordination difficulties, potentially related to a reduced cortical connectivity. Being the largest human commissure, the corpus callosum (CC) plays an essential role in interhemispheric connectivity and has been often involved among autistic atypicalities. This study aimed to investigate the volumes of corpus callosum subregions in a group of drug-naïve, autistic children and to explore its possible associations with both core features and motor coordination skills. Methods Thirty-five autistic children (2.5-12 years) were compared with a group of 35 closely IQ-matched, non-autistic peers. CC was identified and segmented into five subregions using Freesurfer. Callosal volumes were compared between the two groups and correlated with parental ratings of core autistic features as assessed by the Social Responsiveness Scale and with motor features as assessed by the Developmental Coordination Disorder Questionnaire. Associations between CC volume and Autism Diagnostic Observation Schedule scores were also explored in autistic participants. Results Autistic children showed a reduced volume of the central segment of the CC, in the context of a comparable CC total volume. This reduction appeared to be correlated with symptoms of restricted and repetitive behaviours in autistic children. An association between Central CC volume and parental ratings of autistic mannerisms and motor skills was also found across participants, mostly driven by the non-autistic group. Conclusion These findings expand the current knowledge about the neural mechanisms underlying autism, suggesting that the reduced connectivity through the CC might have implications for both core autistic features and motor skills. En ligne : https://doi.org/10.1016/j.reia.2025.202626 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 [article] Decreased central corpus callosum volume in autistic children is associated with repetitive behaviours and motor skills [Texte imprimé et/ou numérique] / Denis PERUZZO, Auteur ; Filippo ARRIGONI, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Laura VILLA, Auteur ; Elisa MANI, Auteur ; Eleonora MAGGIONI, Auteur ; Paolo BRAMBILLA, Auteur ; Maria NOBILE, Auteur ; Massimo MOLTENI, Auteur ; Alessandro CRIPPA, Auteur . - p.202626. Langues : Anglais (eng) in Research in Autism > 125 (July 2025) . - p.202626 Mots-clés : Autism  Corpus callosum  Magnetic resonance imaging  Restricted repetitive behaviours  Motor skills Index. décimale : PER Périodiques Résumé : Introduction Along with the core characteristics of the condition, autistic individuals commonly experience motor coordination difficulties, potentially related to a reduced cortical connectivity. Being the largest human commissure, the corpus callosum (CC) plays an essential role in interhemispheric connectivity and has been often involved among autistic atypicalities. This study aimed to investigate the volumes of corpus callosum subregions in a group of drug-naïve, autistic children and to explore its possible associations with both core features and motor coordination skills. Methods Thirty-five autistic children (2.5-12 years) were compared with a group of 35 closely IQ-matched, non-autistic peers. CC was identified and segmented into five subregions using Freesurfer. Callosal volumes were compared between the two groups and correlated with parental ratings of core autistic features as assessed by the Social Responsiveness Scale and with motor features as assessed by the Developmental Coordination Disorder Questionnaire. Associations between CC volume and Autism Diagnostic Observation Schedule scores were also explored in autistic participants. Results Autistic children showed a reduced volume of the central segment of the CC, in the context of a comparable CC total volume. This reduction appeared to be correlated with symptoms of restricted and repetitive behaviours in autistic children. An association between Central CC volume and parental ratings of autistic mannerisms and motor skills was also found across participants, mostly driven by the non-autistic group. Conclusion These findings expand the current knowledge about the neural mechanisms underlying autism, suggesting that the reduced connectivity through the CC might have implications for both core autistic features and motor skills. En ligne : https://doi.org/10.1016/j.reia.2025.202626 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559

Further evidence of complex motor dysfunction in drug naïve children with autism using automatic motion analysis of gait / Maria NOBILE in Autism, 15-3 (May 2011)  

Public ISBD [article]  inAutism > 15-3 (May 2011) . - p.263-283 Titre : Further evidence of complex motor dysfunction in drug naïve children with autism using automatic motion analysis of gait Type de document : Texte imprimé et/ou numérique Auteurs : Maria NOBILE, Auteur ; Paolo PEREGO, Auteur ; Luigi PICCININI, Auteur ; Elisa MANI, Auteur ; Agnese ROSSI, Auteur ; Monica BELLINA, Auteur ; Massimo MOLTENI, Auteur Année de publication : 2011 Article en page(s) : p.263-283 Langues : Anglais (eng) Mots-clés : autism  gait analysis  jerk  locomotion system  motor dysfunction Index. décimale : PER Périodiques Résumé : In order to increase the knowledge of locomotor disturbances in children with autism, and of the mechanism underlying them, the objective of this exploratory study was to reliably and quantitatively evaluate linear gait parameters (spatio-temporal and kinematic parameters), upper body kinematic parameters, walk orientation and smoothness using an automatic motion analyser (ELITE systems) in drug naïve children with Autistic Disorder (AD) and healthy controls. The children with AD showed a stiffer gait in which the usual fluidity of walking was lost, trunk postural abnormalities, highly significant difficulties to maintain a straight line and a marked loss of smoothness (increase of jerk index), compared to the healthy controls. As a whole, these data suggest a complex motor dysfunction involving both the cortical and the subcortical area or, maybe, a possible deficit in the integration of sensory-motor information within motor networks (i.e., anomalous connections within the fronto-cerebello-thalamo-frontal network). Although the underlying neural structures involved remain to be better defined, these data may contribute to highlighting the central role of motor impairment in autism and suggest the usefulness of taking into account motor difficulties when developing new diagnostic and rehabilitation programs. En ligne : http://dx.doi.org/10.1177/1362361309356929 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130 [article] Further evidence of complex motor dysfunction in drug naïve children with autism using automatic motion analysis of gait [Texte imprimé et/ou numérique] / Maria NOBILE, Auteur ; Paolo PEREGO, Auteur ; Luigi PICCININI, Auteur ; Elisa MANI, Auteur ; Agnese ROSSI, Auteur ; Monica BELLINA, Auteur ; Massimo MOLTENI, Auteur . - 2011 . - p.263-283. Langues : Anglais (eng) in Autism > 15-3 (May 2011) . - p.263-283 Mots-clés : autism  gait analysis  jerk  locomotion system  motor dysfunction Index. décimale : PER Périodiques Résumé : In order to increase the knowledge of locomotor disturbances in children with autism, and of the mechanism underlying them, the objective of this exploratory study was to reliably and quantitatively evaluate linear gait parameters (spatio-temporal and kinematic parameters), upper body kinematic parameters, walk orientation and smoothness using an automatic motion analyser (ELITE systems) in drug naïve children with Autistic Disorder (AD) and healthy controls. The children with AD showed a stiffer gait in which the usual fluidity of walking was lost, trunk postural abnormalities, highly significant difficulties to maintain a straight line and a marked loss of smoothness (increase of jerk index), compared to the healthy controls. As a whole, these data suggest a complex motor dysfunction involving both the cortical and the subcortical area or, maybe, a possible deficit in the integration of sensory-motor information within motor networks (i.e., anomalous connections within the fronto-cerebello-thalamo-frontal network). Although the underlying neural structures involved remain to be better defined, these data may contribute to highlighting the central role of motor impairment in autism and suggest the usefulness of taking into account motor difficulties when developing new diagnostic and rehabilitation programs. En ligne : http://dx.doi.org/10.1177/1362361309356929 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130

Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology / Gaia SCACCABAROZZI in Autism Research, 18-8 (August 2025)  

Public ISBD [article]  inAutism Research > 18-8 (August 2025) . - p.1535-1549 Titre : Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology Type de document : Texte imprimé et/ou numérique Auteurs : Gaia SCACCABAROZZI, Auteur ; Luca FUMAGALLI, Auteur ; Maddalena MAMBRETTI, Auteur ; Roberto GIORDA, Auteur ; Marco VILLA, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Laura VILLA, Auteur ; Elisa MANI, Auteur ; Maria NOBILE, Auteur ; Massimo MOLTENI, Auteur ; Uberto POZZOLI, Auteur ; Alessandro CRIPPA, Auteur Article en page(s) : p.1535-1549 Langues : Anglais (eng) Mots-clés : autism  brain expression  genetics  heterogeneity  protein-altering variants Index. décimale : PER Périodiques Résumé : ABSTRACT Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi-step analysis could identify gene sets with different loads of protein-altering variants (PAVs) between two subgroups of autistic children. After subdividing our sample (n?=?71, 3?12?years) based on higher (>?80; n?=?43) and lower (? 80; n?=?28) intelligence quotient (IQ), a gene set variant enrichment analysis identified gene sets with significantly different incidence of PAVs between the two subgroups of autistic children. Significant gene sets were then clustered into modules of genes. Their brain expression was investigated according to the BrainSpan Atlas of the Developing Human Brain. Next, we extended each module by selecting the genes that were spatio-temporally co-expressed in the developing brain and physically interacting with those in modules. Last, we explored the incidence of autism susceptibility genes within original and extended modules. Our analysis identified 38 significant gene sets (FDR, q? En ligne : https://doi.org/10.1002/aur.70086 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=566 [article] Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology [Texte imprimé et/ou numérique] / Gaia SCACCABAROZZI, Auteur ; Luca FUMAGALLI, Auteur ; Maddalena MAMBRETTI, Auteur ; Roberto GIORDA, Auteur ; Marco VILLA, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Laura VILLA, Auteur ; Elisa MANI, Auteur ; Maria NOBILE, Auteur ; Massimo MOLTENI, Auteur ; Uberto POZZOLI, Auteur ; Alessandro CRIPPA, Auteur . - p.1535-1549. Langues : Anglais (eng) in Autism Research > 18-8 (August 2025) . - p.1535-1549 Mots-clés : autism  brain expression  genetics  heterogeneity  protein-altering variants Index. décimale : PER Périodiques Résumé : ABSTRACT Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi-step analysis could identify gene sets with different loads of protein-altering variants (PAVs) between two subgroups of autistic children. After subdividing our sample (n?=?71, 3?12?years) based on higher (>?80; n?=?43) and lower (? 80; n?=?28) intelligence quotient (IQ), a gene set variant enrichment analysis identified gene sets with significantly different incidence of PAVs between the two subgroups of autistic children. Significant gene sets were then clustered into modules of genes. Their brain expression was investigated according to the BrainSpan Atlas of the Developing Human Brain. Next, we extended each module by selecting the genes that were spatio-temporally co-expressed in the developing brain and physically interacting with those in modules. Last, we explored the incidence of autism susceptibility genes within original and extended modules. Our analysis identified 38 significant gene sets (FDR, q? En ligne : https://doi.org/10.1002/aur.70086 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=566

Understanding feeding problems in autistic children: Exploring the interplay between internalizing symptoms and sensory features / Alessandro CRIPPA in Autism, 26-8 (November 2022)  

Public ISBD [article]  inAutism > 26-8 (November 2022) . - p.2165-2174 Titre : Understanding feeding problems in autistic children: Exploring the interplay between internalizing symptoms and sensory features Type de document : Texte imprimé et/ou numérique Auteurs : Alessandro CRIPPA, Auteur ; Paola COLOMBO, Auteur ; Valentina DE COSMI, Auteur ; Alessandra MAZZOCCHI, Auteur ; Silvia SCAGLIONI, Auteur ; Giulia Carla Immacolata SPOLIDORO, Auteur ; Silvia BETTOCCHI, Auteur ; Veronica D'ORIA, Auteur ; Nicole VIGANO, Auteur ; Elisa MANI, Auteur ; Massimo MOLTENI, Auteur ; Carlo AGOSTONI, Auteur Article en page(s) : p.2165-2174 Langues : Anglais (eng) Mots-clés : Child  Humans  Autistic Disorder  Autism Spectrum Disorder  Feeding Behavior  autism spectrum disorder  feeding problems  internalizing problems  mealtime behaviors  preschool  sensory profile Index. décimale : PER Périodiques Résumé : This study adds to a growing body of research documenting feeding problems in autistic children. Our results indicate that children aged 1.5-5 years with feeding problems may present with elevated internalizing difficulties and alterations in sensory processing when compared to same-age children without feeding problems. Our study also proposes that sensory processing may be an important, mediating factor in the relationship between autism features and feeding problems. The present work suggests, therefore, that implementers should thoroughly consider the sensory profile of autistic children prior to intervening on feeding behaviors. In particular, based on these preliminary findings, feeding interventions could benefit from environments designed to support children who can find them noisy and overwhelming. En ligne : http://dx.doi.org/10.1177/13623613221080227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 [article] Understanding feeding problems in autistic children: Exploring the interplay between internalizing symptoms and sensory features [Texte imprimé et/ou numérique] / Alessandro CRIPPA, Auteur ; Paola COLOMBO, Auteur ; Valentina DE COSMI, Auteur ; Alessandra MAZZOCCHI, Auteur ; Silvia SCAGLIONI, Auteur ; Giulia Carla Immacolata SPOLIDORO, Auteur ; Silvia BETTOCCHI, Auteur ; Veronica D'ORIA, Auteur ; Nicole VIGANO, Auteur ; Elisa MANI, Auteur ; Massimo MOLTENI, Auteur ; Carlo AGOSTONI, Auteur . - p.2165-2174. Langues : Anglais (eng) in Autism > 26-8 (November 2022) . - p.2165-2174 Mots-clés : Child  Humans  Autistic Disorder  Autism Spectrum Disorder  Feeding Behavior  autism spectrum disorder  feeding problems  internalizing problems  mealtime behaviors  preschool  sensory profile Index. décimale : PER Périodiques Résumé : This study adds to a growing body of research documenting feeding problems in autistic children. Our results indicate that children aged 1.5-5 years with feeding problems may present with elevated internalizing difficulties and alterations in sensory processing when compared to same-age children without feeding problems. Our study also proposes that sensory processing may be an important, mediating factor in the relationship between autism features and feeding problems. The present work suggests, therefore, that implementers should thoroughly consider the sensory profile of autistic children prior to intervening on feeding behaviors. In particular, based on these preliminary findings, feeding interventions could benefit from environments designed to support children who can find them noisy and overwhelming. En ligne : http://dx.doi.org/10.1177/13623613221080227 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488

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