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

A multimethod approach to assessing motor skills in boys and girls with autism spectrum disorder / Alessandro CRIPPA in Autism, 25-5 (July 2021)  

Public ISBD [article]  inAutism > 25-5 (July 2021) . - p.1481-1491 Titre : A multimethod approach to assessing motor skills in boys and girls with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Alessandro CRIPPA, Auteur ; Francesco CRAIG, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Maddalena MAURI, Auteur ; Silvia GRAZIOLI, Auteur ; Nicoletta SCIONTI, Auteur ; Alice CREMASCOLI, Auteur ; Camilla FERRANTE, Auteur ; Chiara VISIOLI, Auteur ; Gian Marco MARZOCCHI, Auteur ; Massimo MOLTENI, Auteur ; Maria NOBILE, Auteur Article en page(s) : p.1481-1491 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Female  Humans  Male  Motor Skills  Quality of Life  Sex Factors  kinematics  motion capture  sex differences Index. décimale : PER Périodiques Résumé : Motor peculiarities are often reported in children with autism spectrum disorder and may predict subsequent adaptive functioning and quality of life. Although the sex bias in the prevalence of the disorder is well documented, little is known about differences in motor profile in males and females with autism spectrum disorder. Our goal was to study differences in motor functioning of boys and girls with autism spectrum disorder aged 3-11?years compared with typically developing children. Their motor performances were evaluated using a multimethod approach, including standardized motor tests, caregiver reports, and a detailed motion capture analysis of a simple reach-to-drop movement. We found that, irrespective of sex, children with autism spectrum disorder had worse scores than typically developing children on standardized tests and on caregiver reports. Interestingly, girls with autism spectrum disorder, but not boys, presented altered motor anticipation in reach-to-drop. Our findings emphasize the need for more sex-specific assessment of motor function in autism spectrum disorder. En ligne : http://dx.doi.org/10.1177/1362361321995634 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 [article] A multimethod approach to assessing motor skills in boys and girls with autism spectrum disorder [Texte imprimé et/ou numérique] / Alessandro CRIPPA, Auteur ; Francesco CRAIG, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Maddalena MAURI, Auteur ; Silvia GRAZIOLI, Auteur ; Nicoletta SCIONTI, Auteur ; Alice CREMASCOLI, Auteur ; Camilla FERRANTE, Auteur ; Chiara VISIOLI, Auteur ; Gian Marco MARZOCCHI, Auteur ; Massimo MOLTENI, Auteur ; Maria NOBILE, Auteur . - p.1481-1491. Langues : Anglais (eng) in Autism > 25-5 (July 2021) . - p.1481-1491 Mots-clés : Autism Spectrum Disorder  Child  Female  Humans  Male  Motor Skills  Quality of Life  Sex Factors  kinematics  motion capture  sex differences Index. décimale : PER Périodiques Résumé : Motor peculiarities are often reported in children with autism spectrum disorder and may predict subsequent adaptive functioning and quality of life. Although the sex bias in the prevalence of the disorder is well documented, little is known about differences in motor profile in males and females with autism spectrum disorder. Our goal was to study differences in motor functioning of boys and girls with autism spectrum disorder aged 3-11?years compared with typically developing children. Their motor performances were evaluated using a multimethod approach, including standardized motor tests, caregiver reports, and a detailed motion capture analysis of a simple reach-to-drop movement. We found that, irrespective of sex, children with autism spectrum disorder had worse scores than typically developing children on standardized tests and on caregiver reports. Interestingly, girls with autism spectrum disorder, but not boys, presented altered motor anticipation in reach-to-drop. Our findings emphasize the need for more sex-specific assessment of motor function in autism spectrum disorder. En ligne : http://dx.doi.org/10.1177/1362361321995634 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475

A multimethod approach to assessing motor skills in boys and girls with autism spectrum disorder / Alessandro CRIPPA in Autism, 26-5 (July 2022)  

Public ISBD [article]  inAutism > 26-5 (July 2022) . - p.1481-1491 Titre : A multimethod approach to assessing motor skills in boys and girls with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Alessandro CRIPPA, Auteur ; Francesco CRAIG, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Maddalena MAURI, Auteur ; Silvia GRAZIOLI, Auteur ; Nicoletta SCIONTI, Auteur ; Alice CREMASCOLI, Auteur ; Camilla FERRANTE, Auteur ; Chiara VISIOLI, Auteur ; Gian Marco MARZOCCHI, Auteur ; Massimo MOLTENI, Auteur ; Maria NOBILE, Auteur Article en page(s) : p.1481-1491 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Female  Humans  Male  Motor Skills  Quality of Life  Sex Factors  autism spectrum disorder  kinematics  motion capture  sex differences Index. décimale : PER Périodiques Résumé : Motor peculiarities are often reported in children with autism spectrum disorder and may predict subsequent adaptive functioning and quality of life. Although the sex bias in the prevalence of the disorder is well documented, little is known about differences in motor profile in males and females with autism spectrum disorder. Our goal was to study differences in motor functioning of boys and girls with autism spectrum disorder aged 3-11years compared with typically developing children. Their motor performances were evaluated using a multimethod approach, including standardized motor tests, caregiver reports, and a detailed motion capture analysis of a simple reach-to-drop movement. We found that, irrespective of sex, children with autism spectrum disorder had worse scores than typically developing children on standardized tests and on caregiver reports. Interestingly, girls with autism spectrum disorder, but not boys, presented altered motor anticipation in reach-to-drop. Our findings emphasize the need for more sex-specific assessment of motor function in autism spectrum disorder. En ligne : http://dx.doi.org/10.1177/1362361321995634 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484 [article] A multimethod approach to assessing motor skills in boys and girls with autism spectrum disorder [Texte imprimé et/ou numérique] / Alessandro CRIPPA, Auteur ; Francesco CRAIG, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Maddalena MAURI, Auteur ; Silvia GRAZIOLI, Auteur ; Nicoletta SCIONTI, Auteur ; Alice CREMASCOLI, Auteur ; Camilla FERRANTE, Auteur ; Chiara VISIOLI, Auteur ; Gian Marco MARZOCCHI, Auteur ; Massimo MOLTENI, Auteur ; Maria NOBILE, Auteur . - p.1481-1491. Langues : Anglais (eng) in Autism > 26-5 (July 2022) . - p.1481-1491 Mots-clés : Autism Spectrum Disorder  Child  Female  Humans  Male  Motor Skills  Quality of Life  Sex Factors  autism spectrum disorder  kinematics  motion capture  sex differences Index. décimale : PER Périodiques Résumé : Motor peculiarities are often reported in children with autism spectrum disorder and may predict subsequent adaptive functioning and quality of life. Although the sex bias in the prevalence of the disorder is well documented, little is known about differences in motor profile in males and females with autism spectrum disorder. Our goal was to study differences in motor functioning of boys and girls with autism spectrum disorder aged 3-11years compared with typically developing children. Their motor performances were evaluated using a multimethod approach, including standardized motor tests, caregiver reports, and a detailed motion capture analysis of a simple reach-to-drop movement. We found that, irrespective of sex, children with autism spectrum disorder had worse scores than typically developing children on standardized tests and on caregiver reports. Interestingly, girls with autism spectrum disorder, but not boys, presented altered motor anticipation in reach-to-drop. Our findings emphasize the need for more sex-specific assessment of motor function in autism spectrum disorder. En ligne : http://dx.doi.org/10.1177/1362361321995634 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=484

A multimodal approach can identify specific motor profiles in autism and attention-deficit/hyperactivity disorder / Stefano DE FRANCESCO in Autism Research, 16-8 (August 2023)  

Public ISBD [article]  inAutism Research > 16-8 (August 2023) . - p.1550-1560 Titre : A multimodal approach can identify specific motor profiles in autism and attention-deficit/hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : Stefano DE FRANCESCO, Auteur ; Luisa MORELLO, Auteur ; Mariachiara FIORAVANTI, Auteur ; Cristina CASSARO, Auteur ; Silvia GRAZIOLI, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Maria NOBILE, Auteur ; Massimo MOLTENI, Auteur ; Alessandro CRIPPA, Auteur Article en page(s) : p.1550-1560 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract It is still unclear whether and to what extent the motor difficulties are specific to autism. This study aimed to determine whether a multimodal assessment of motor skills could accurately discriminate autistic children from attention-deficit/hyperactivity disorder (ADHD) and typically developing (TD) peers. Seventy-five children, aged 7-13, equally divided into three groups, were assessed with the developmental coordination disorder questionnaire (DCDQ), the movement assessment battery for children 2 (MABC2), the sensorimotor subtests of NEPSY-II, and the kinematic analysis of a reach-to-drop task. Principal component analysis (PCA) on DCDQ subscales revealed one factor-Caregiver Report-, whereas MABC2/NEPSY-II scores identified three factors-namely, Object Interception and Balance, Motor Imitation, and Fine-Motor Skills-. Lastly, PCA on kinematic variables identified four factors: PC1, loaded by the parameters of velocity and acceleration throughout the task, PC2 and PC3 involved the temporal parameters of the two submovements, and PC4 accounted for the wrist inclination at ball drop. When comparing autistic and TD children, Caregiver Report and Motor Imitation factors predicted membership with 87.2% of accuracy. In the model comparing ADHD and TD groups, Caregiver Report and Fine-Motor Skills predicted membership with an accuracy of 73.5%. In the last model, the Object Interception and Balance factor differentiated autistic children from ADHD with an accuracy of 73.5%. In line with our previous findings, kinematics did not differentiate school-aged autistic children from ADHD and TD peers. The present findings show that specific motor profiles in autism and ADHD can be isolated with a multimodal investigation of motor skills. En ligne : https://doi.org/10.1002/aur.2989 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510 [article] A multimodal approach can identify specific motor profiles in autism and attention-deficit/hyperactivity disorder [Texte imprimé et/ou numérique] / Stefano DE FRANCESCO, Auteur ; Luisa MORELLO, Auteur ; Mariachiara FIORAVANTI, Auteur ; Cristina CASSARO, Auteur ; Silvia GRAZIOLI, Auteur ; Silvia BUSTI CECCARELLI, Auteur ; Maria NOBILE, Auteur ; Massimo MOLTENI, Auteur ; Alessandro CRIPPA, Auteur . - p.1550-1560. Langues : Anglais (eng) in Autism Research > 16-8 (August 2023) . - p.1550-1560 Index. décimale : PER Périodiques Résumé : Abstract It is still unclear whether and to what extent the motor difficulties are specific to autism. This study aimed to determine whether a multimodal assessment of motor skills could accurately discriminate autistic children from attention-deficit/hyperactivity disorder (ADHD) and typically developing (TD) peers. Seventy-five children, aged 7-13, equally divided into three groups, were assessed with the developmental coordination disorder questionnaire (DCDQ), the movement assessment battery for children 2 (MABC2), the sensorimotor subtests of NEPSY-II, and the kinematic analysis of a reach-to-drop task. Principal component analysis (PCA) on DCDQ subscales revealed one factor-Caregiver Report-, whereas MABC2/NEPSY-II scores identified three factors-namely, Object Interception and Balance, Motor Imitation, and Fine-Motor Skills-. Lastly, PCA on kinematic variables identified four factors: PC1, loaded by the parameters of velocity and acceleration throughout the task, PC2 and PC3 involved the temporal parameters of the two submovements, and PC4 accounted for the wrist inclination at ball drop. When comparing autistic and TD children, Caregiver Report and Motor Imitation factors predicted membership with 87.2% of accuracy. In the model comparing ADHD and TD groups, Caregiver Report and Fine-Motor Skills predicted membership with an accuracy of 73.5%. In the last model, the Object Interception and Balance factor differentiated autistic children from ADHD with an accuracy of 73.5%. In line with our previous findings, kinematics did not differentiate school-aged autistic children from ADHD and TD peers. The present findings show that specific motor profiles in autism and ADHD can be isolated with a multimodal investigation of motor skills. En ligne : https://doi.org/10.1002/aur.2989 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=510

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

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