Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model / Emmanuel MATAS in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) Titre : Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model Type de document : texte imprimé Auteurs : Emmanuel MATAS, Auteur ; Alexandre MAISTERRENA, Auteur ; Mathieu THABAULT, Auteur ; Eric BALADO, Auteur ; Maureen FRANCHETEAU, Auteur ; Anais BALBOUS, Auteur ; Laurie GALVAN, Auteur ; Mohamed JABER, Auteur Langues : Anglais (eng) Mots-clés : Cerebellum  Crus I  Crus II  Gait  Motor coordination  Purkinje cells  Sociability  mGluR5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/ΔC) and homozygote (Shank3 ΔC/ΔC)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ΔC/ΔC mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ΔC/ΔC were less affected by the mutation than males. Shank3+/ΔC mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ΔC/ΔC mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/ΔC mice showed only mild to no deficiencies compared to Shank3 ΔC/ΔC. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ΔC/ΔC mice show more pronounced alterations than Shank3+/ΔC. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria. En ligne : http://dx.doi.org/10.1186/s13229-020-00412-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438 [article] Major motor and gait deficits with sexual dimorphism in a Shank3 mutant mouse model [texte imprimé] / Emmanuel MATAS, Auteur ; Alexandre MAISTERRENA, Auteur ; Mathieu THABAULT, Auteur ; Eric BALADO, Auteur ; Maureen FRANCHETEAU, Auteur ; Anais BALBOUS, Auteur ; Laurie GALVAN, Auteur ; Mohamed JABER, Auteur. Langues : Anglais (eng) in Molecular Autism > 12 (2021) Mots-clés : Cerebellum  Crus I  Crus II  Gait  Motor coordination  Purkinje cells  Sociability  mGluR5 Index. décimale : PER Périodiques Résumé : BACKGROUND: Contrasting findings were reported in several animal models with a Shank3 mutation used to induce various autism spectrum disorder (ASD) symptoms. Here, we aimed at investigating behavioral, cellular, and molecular consequences of a C-terminal (frameshift in exon 21) deletion in Shank3 protein in mice, a mutation that is also found in clinical conditions and which results in loss of major isoforms of Shank3. A special focus was made on cerebellar related parameters. METHODS: All three genotypes were analyzed [wild type (WT), heterozygote (Shank3+/ΔC) and homozygote (Shank3 ΔC/ΔC)] and males and females were separated into two distinct groups. Motor and social behavior, gait, Purkinje cells (PC) and glutamatergic protein levels were determined. Behavioral and cellular procedures used here were previously validated using two environmental animal models of ASD. ANOVA and post-hoc analysis were used for statistical analysis. RESULTS: Shank3 ΔC/ΔC mice showed significant impairments in social novelty preference, stereotyped behavior and gait. These were accompanied by a decreased number of PC in restricted cerebellar sub-regions and decreased cerebellar expression of mGluR5. Females Shank3 ΔC/ΔC were less affected by the mutation than males. Shank3+/ΔC mice showed impairments only in social novelty preference, grooming, and decreased mGluR5 expression and that were to a much lesser extent than in Shank3 ΔC/ΔC mice. LIMITATIONS: As Shank3 mutation is a haploinsufficiency, it is of interest to emphasize that Shank3+/ΔC mice showed only mild to no deficiencies compared to Shank3 ΔC/ΔC. CONCLUSIONS: Our findings indicate that several behavioral, cellular, and molecular parameters are affected in this animal model. The reported deficits are more pronounced in males than in females. Additionally, male Shank3 ΔC/ΔC mice show more pronounced alterations than Shank3+/ΔC. Together with our previous findings in two environmental animal models of ASD, our studies indicate that gait dysfunction constitutes a robust set of motor ASD symptoms that may be considered for implementation in clinical settings as an early and quantitative diagnosis criteria. En ligne : http://dx.doi.org/10.1186/s13229-020-00412-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438

Motor Disorders in Autism: From Comorbidity to Core Criterion / Mohamed JABER in Autism Research, 19-7 (July 2026)  

Public ISBD [article]  inAutism Research > 19-7 (July 2026) . - p.e70293 Titre : Motor Disorders in Autism: From Comorbidity to Core Criterion Type de document : texte imprimé Auteurs : Mohamed JABER, Auteur Article en page(s) : p.e70293 Langues : Anglais (eng) Mots-clés : ASD  basal ganglia  cerebellum  diagnosis criteria  embodied cognition  gait  motor screening  neurodevelopment Index. décimale : PER Périodiques Résumé : ABSTRACT While repetitive movements are recognized as a diagnostic hallmark of Autism Spectrum Disorder (ASD) in frameworks such as the DSM and ICD, other motor disturbances, including gait atypicalities and postural control difficulties, have historically been overlooked or framed as secondary comorbidities. This discrepancy persists despite growing evidence that motor signs in ASD are fundamental rather than incidental. Some of these motor and gait signs may be discernable early and could potentially forecast subsequent communication outcomes in certain cohorts. The current focus on observable behaviors in diagnostic systems may thus benefit from integration of motor dimensions, which could enhance early identification and support tailored interventions. Available experimental and clinical findings converge to indicate that motor dysfunctions in ASD are neither epiphenomena nor peripheral. They map onto cerebellar and basal ganglia dysfunction, impaired multisensory integration, and disrupted emotion?motor coupling that may impact cognitive and social outcomes. Future directions must go beyond the current phenotypical characterization of ASD. Motor screening could be integrated into early pediatric surveillance, and interdisciplinary motor-based interventions embedded into individualized care. More factually, we contend that motor and gait signs, beyond restricted and repetitive movements, should be incorporated into future revisions of DSM and ICD as diagnostic criteria for ASD. This would not only improve sensitivity to early and mild ASD phenotypes but also realign autism diagnosis with its neurological foundation. Recognizing motor specificities as an integrated part of ASD demands a paradigm shift: pediatricians and psychiatrists must embrace an embodied, motor-informed model of autism, bridging it with neurology to transform both diagnosis and care. En ligne : https://doi.org/10.1002/aur.70293 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=589 [article] Motor Disorders in Autism: From Comorbidity to Core Criterion [texte imprimé] / Mohamed JABER, Auteur . - p.e70293. Langues : Anglais (eng) in Autism Research > 19-7 (July 2026) . - p.e70293 Mots-clés : ASD  basal ganglia  cerebellum  diagnosis criteria  embodied cognition  gait  motor screening  neurodevelopment Index. décimale : PER Périodiques Résumé : ABSTRACT While repetitive movements are recognized as a diagnostic hallmark of Autism Spectrum Disorder (ASD) in frameworks such as the DSM and ICD, other motor disturbances, including gait atypicalities and postural control difficulties, have historically been overlooked or framed as secondary comorbidities. This discrepancy persists despite growing evidence that motor signs in ASD are fundamental rather than incidental. Some of these motor and gait signs may be discernable early and could potentially forecast subsequent communication outcomes in certain cohorts. The current focus on observable behaviors in diagnostic systems may thus benefit from integration of motor dimensions, which could enhance early identification and support tailored interventions. Available experimental and clinical findings converge to indicate that motor dysfunctions in ASD are neither epiphenomena nor peripheral. They map onto cerebellar and basal ganglia dysfunction, impaired multisensory integration, and disrupted emotion?motor coupling that may impact cognitive and social outcomes. Future directions must go beyond the current phenotypical characterization of ASD. Motor screening could be integrated into early pediatric surveillance, and interdisciplinary motor-based interventions embedded into individualized care. More factually, we contend that motor and gait signs, beyond restricted and repetitive movements, should be incorporated into future revisions of DSM and ICD as diagnostic criteria for ASD. This would not only improve sensitivity to early and mild ASD phenotypes but also realign autism diagnosis with its neurological foundation. Recognizing motor specificities as an integrated part of ASD demands a paradigm shift: pediatricians and psychiatrists must embrace an embodied, motor-informed model of autism, bridging it with neurology to transform both diagnosis and care. En ligne : https://doi.org/10.1002/aur.70293 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=589

Slow anticipatory postural adjustments compromise dynamic stability in children with autism during gait initiation / Tisserand ROMAIN in Research in Autism, 133 (May 2026)  

Public ISBD [article]  inResearch in Autism > 133 (May 2026) . - p.202913 Titre : Slow anticipatory postural adjustments compromise dynamic stability in children with autism during gait initiation Type de document : texte imprimé Auteurs : Tisserand ROMAIN, Auteur ; Benchekri AURÉLIE, Auteur ; Emilie DOAT, Auteur ; Amestoy ANOUCK, Auteur ; Lemonnier ERIC, Auteur ; Cottenceau HÉLÈNE, Auteur ; Anaick PERROCHON, Auteur ; Mohamed JABER, Auteur ; Jean-René CAZALETS, Auteur ; Bidet-Ildei CHRISTEL, Auteur ; Fradet LAETITIA, Auteur Article en page(s) : p.202913 Langues : Anglais (eng) Mots-clés : Autistic children  Gait initiation  Anticipatory postural adjustments  Motor control  Balance Index. décimale : PER Périodiques Résumé : Motor impairments are frequently observed in children with autism spectrum disorders (ASD). However, they remain absent from the DSM-5 diagnostic criteria, potentially delaying early ASD diagnosis. Gait initiation challenges balance–movement coordination more than steady-state motor tasks do and may offer valuable insights into distinctive motor profiles associated with ASD. Although few studies have explored locomotor initiation in children with ASD, they have not thoroughly analysed dynamic stability processes, leaving the underlying mechanisms of motor deficits in ASD unclear. This study compared the biomechanical characteristics of anticipatory postural adjustments (APAs) during gait initiation in children with ASD (n = 30) with those of age-matched non-autistic children (NAs) (n = 30). Three-dimensional ground reaction forces and whole-body marker trajectories were recorded via two force plates and an optoelectronic system. The APA duration, centre of pressure (CoP) features, margin of stability (MoS) at foot-off, and joint angles were computed and analysed. Intergroup differences were tested using nonparametric Mann–Whitney U tests. Compared with the NA children, the ASD children presented longer APA durations and reduced joint angles in the stance leg during the early APA subphase. These alterations resulted in a longer late-phase APAS duration and a significantly larger negative MoS in the mediolateral direction at foot-off. Overall, these findings suggest deficits in both feedforward control, as supported by a slower and more rigid strategy for initiation, and feedback regulation, as supported by a foot lift in worse conditions for dynamic stability. Together, these impairments may represent early motor markers of ASD with potential diagnostic value. En ligne : https://doi.org/10.1016/j.reia.2026.202913 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=585 [article] Slow anticipatory postural adjustments compromise dynamic stability in children with autism during gait initiation [texte imprimé] / Tisserand ROMAIN, Auteur ; Benchekri AURÉLIE, Auteur ; Emilie DOAT, Auteur ; Amestoy ANOUCK, Auteur ; Lemonnier ERIC, Auteur ; Cottenceau HÉLÈNE, Auteur ; Anaick PERROCHON, Auteur ; Mohamed JABER, Auteur ; Jean-René CAZALETS, Auteur ; Bidet-Ildei CHRISTEL, Auteur ; Fradet LAETITIA, Auteur . - p.202913. Langues : Anglais (eng) in Research in Autism > 133 (May 2026) . - p.202913 Mots-clés : Autistic children  Gait initiation  Anticipatory postural adjustments  Motor control  Balance Index. décimale : PER Périodiques Résumé : Motor impairments are frequently observed in children with autism spectrum disorders (ASD). However, they remain absent from the DSM-5 diagnostic criteria, potentially delaying early ASD diagnosis. Gait initiation challenges balance–movement coordination more than steady-state motor tasks do and may offer valuable insights into distinctive motor profiles associated with ASD. Although few studies have explored locomotor initiation in children with ASD, they have not thoroughly analysed dynamic stability processes, leaving the underlying mechanisms of motor deficits in ASD unclear. This study compared the biomechanical characteristics of anticipatory postural adjustments (APAs) during gait initiation in children with ASD (n = 30) with those of age-matched non-autistic children (NAs) (n = 30). Three-dimensional ground reaction forces and whole-body marker trajectories were recorded via two force plates and an optoelectronic system. The APA duration, centre of pressure (CoP) features, margin of stability (MoS) at foot-off, and joint angles were computed and analysed. Intergroup differences were tested using nonparametric Mann–Whitney U tests. Compared with the NA children, the ASD children presented longer APA durations and reduced joint angles in the stance leg during the early APA subphase. These alterations resulted in a longer late-phase APAS duration and a significantly larger negative MoS in the mediolateral direction at foot-off. Overall, these findings suggest deficits in both feedforward control, as supported by a slower and more rigid strategy for initiation, and feedback regulation, as supported by a foot lift in worse conditions for dynamic stability. Together, these impairments may represent early motor markers of ASD with potential diagnostic value. En ligne : https://doi.org/10.1016/j.reia.2026.202913 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=585

Les troubles moteurs et la marche comme élément de diagnostic dans l'autisme / Mohamed JABER in Bulletin Scientifique de l'arapi (Le), 48 (2021/2)

Public ISBD [article]  inBulletin Scientifique de l'arapi (Le) > 48 (2021/2) . - p.7-10 Titre : Les troubles moteurs et la marche comme élément de diagnostic dans l'autisme Type de document : texte imprimé Auteurs : Mohamed JABER, Auteur ; Isabelle ALLARD, Auteur Année de publication : 2022 Article en page(s) : p.7-10 Langues : Français (fre) Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Les troubles moteurs et la marche comme élément de diagnostic dans l'autisme [texte imprimé] / Mohamed JABER, Auteur ; Isabelle ALLARD, Auteur . - 2022 . - p.7-10. Langues : Français (fre) in Bulletin Scientifique de l'arapi (Le) > 48 (2021/2) . - p.7-10 Index. décimale : PER Périodiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

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