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Altered Cerebellum Spontaneous Activity in Juvenile Autism Spectrum Disorders Associated with Clinical Traits / Jinglun LI in Journal of Autism and Developmental Disorders, 52-6 (June 2022)
[article]
Titre : Altered Cerebellum Spontaneous Activity in Juvenile Autism Spectrum Disorders Associated with Clinical Traits Type de document : Texte imprimé et/ou numérique Auteurs : Jinglun LI, Auteur ; Xiu CHEN, Auteur ; Ruwen ZHENG, Auteur ; Ai CHEN, Auteur ; Yan ZHOU, Auteur ; Jianghai RUAN, Auteur Article en page(s) : p.2497-2504 Langues : Anglais (eng) Mots-clés : Amplitude of low-frequency fluctuations Autism spectrum disorders Cerebellum Functional magnetic resonance imaging Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disorder. The associations between the cerebellum and clinical traits remain unclear. We performed amplitude of low-frequency fluctuation (ALFF) analysis to explore the associations between spontaneous brain activity and clinical traits. 361 juvenile ASD patients were included from the ABIDEII database. In the ASD group, the mean ALFF values of cerebellum 4 5 were correlated with SRS awareness and communication. The mean ALFF values of cerebellum 6 and vermis 4 5 were both positively correlated with SRS total, awareness, communication, and motivation. In contrast, the mean ALFF values of vermis 1 2 were negatively correlated with SRS total, awareness, and mannerisms. Our study suggests a role of the cerebellum in functional impairments in ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-05167-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=474
in Journal of Autism and Developmental Disorders > 52-6 (June 2022) . - p.2497-2504[article] Altered Cerebellum Spontaneous Activity in Juvenile Autism Spectrum Disorders Associated with Clinical Traits [Texte imprimé et/ou numérique] / Jinglun LI, Auteur ; Xiu CHEN, Auteur ; Ruwen ZHENG, Auteur ; Ai CHEN, Auteur ; Yan ZHOU, Auteur ; Jianghai RUAN, Auteur . - p.2497-2504.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-6 (June 2022) . - p.2497-2504
Mots-clés : Amplitude of low-frequency fluctuations Autism spectrum disorders Cerebellum Functional magnetic resonance imaging Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is a neurodevelopmental disorder. The associations between the cerebellum and clinical traits remain unclear. We performed amplitude of low-frequency fluctuation (ALFF) analysis to explore the associations between spontaneous brain activity and clinical traits. 361 juvenile ASD patients were included from the ABIDEII database. In the ASD group, the mean ALFF values of cerebellum 4 5 were correlated with SRS awareness and communication. The mean ALFF values of cerebellum 6 and vermis 4 5 were both positively correlated with SRS total, awareness, communication, and motivation. In contrast, the mean ALFF values of vermis 1 2 were negatively correlated with SRS total, awareness, and mannerisms. Our study suggests a role of the cerebellum in functional impairments in ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-05167-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=474 Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model / Viera KUTNA in Autism Research, 15-5 (May 2022)
[article]
Titre : Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model Type de document : Texte imprimé et/ou numérique Auteurs : Viera KUTNA, Auteur ; Valerie BRID O'LEARY, Auteur ; Cyril HOSCHL, Auteur ; Saak V. OVSEPIAN, Auteur Article en page(s) : p.791-805 Langues : Anglais (eng) Mots-clés : Animals Autism Spectrum Disorder Autistic Disorder Cerebellum/metabolism Demyelinating Diseases/complications/metabolism Epilepsy/complications Humans Mechanistic Target of Rapamycin Complex 1/genetics/metabolism Phenotype Rats Tuberous Sclerosis Purkinje neurons cerebellum demyelination mTORC1 signaling microglia activation synaptophysin Index. décimale : PER Périodiques Résumé : The cerebellum hosts more than half of all neurons of the human brain, with their organized activity playing a key role in coordinating motor functions. Cerebellar activity has also been implicated in the control of speech, communication, and social behavior, which are compromised in autism spectrum disorders (ASD). Despite major research advances, there is a shortage of mechanistic data relating cellular and molecular changes in the cerebellum to autistic behavior. We studied the impact of tuberous sclerosis complex 2 haploinsufficiency (Tsc2+/-) with downstream mTORC1 hyperactivity on cerebellar morphology and cellular organization in 1, 9, and 18?m.o. Eker rats, to determine possible structural correlates of an autism-like behavioural phenotype in this model. We report a greater developmental expansion of the cerebellar vermis, owing to enlarged white matter and thickened molecular layer. Histochemical and immunofluorescence data suggest age-related demyelination of central tract of the vermis, as evident from reduced level of myelin-basic protein in the arbora vitae. We also observed a higher number of astrocytes in Tsc2+/- rats of older age while the number of Purkinje cells (PCs) in these animals was lower than in wild-type controls. Unlike astrocytes and PCs, Bergmann glia remained unaltered at all ages in both genotypes, while the number of microglia was higher in Tsc2+/- rats of older age. The convergent evidence for a variety of age-dependent cellular changes in the cerebellum of rats associated with mTORC1 hyperactivity, thus, predicts an array of functional impairments, which may contribute to the developmental onset of an autism-like behavioral phenotype in this model. LAY SUMMARY: This study elucidates the impact of constitutive mTORC1 hyperactivity on cerebellar morphology and cellular organization in a rat model of autism and epilepsy. It describes age-dependent degeneration of Purkinje neurons, with demyelination of central tract as well as activation of microglia, and discusses the implications of these changes for neuro-behavioral phenotypes. The described changes provide new indications for the putative mechanisms underlying cerebellar impairments with their age-related onset, which may contribute to the pathobiology of autism, epilepsy, and related disorders. En ligne : http://dx.doi.org/10.1002/aur.2688 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473
in Autism Research > 15-5 (May 2022) . - p.791-805[article] Cerebellar demyelination and neurodegeneration associated with mTORC1 hyperactivity may contribute to the developmental onset of autism-like neurobehavioral phenotype in a rat model [Texte imprimé et/ou numérique] / Viera KUTNA, Auteur ; Valerie BRID O'LEARY, Auteur ; Cyril HOSCHL, Auteur ; Saak V. OVSEPIAN, Auteur . - p.791-805.
Langues : Anglais (eng)
in Autism Research > 15-5 (May 2022) . - p.791-805
Mots-clés : Animals Autism Spectrum Disorder Autistic Disorder Cerebellum/metabolism Demyelinating Diseases/complications/metabolism Epilepsy/complications Humans Mechanistic Target of Rapamycin Complex 1/genetics/metabolism Phenotype Rats Tuberous Sclerosis Purkinje neurons cerebellum demyelination mTORC1 signaling microglia activation synaptophysin Index. décimale : PER Périodiques Résumé : The cerebellum hosts more than half of all neurons of the human brain, with their organized activity playing a key role in coordinating motor functions. Cerebellar activity has also been implicated in the control of speech, communication, and social behavior, which are compromised in autism spectrum disorders (ASD). Despite major research advances, there is a shortage of mechanistic data relating cellular and molecular changes in the cerebellum to autistic behavior. We studied the impact of tuberous sclerosis complex 2 haploinsufficiency (Tsc2+/-) with downstream mTORC1 hyperactivity on cerebellar morphology and cellular organization in 1, 9, and 18?m.o. Eker rats, to determine possible structural correlates of an autism-like behavioural phenotype in this model. We report a greater developmental expansion of the cerebellar vermis, owing to enlarged white matter and thickened molecular layer. Histochemical and immunofluorescence data suggest age-related demyelination of central tract of the vermis, as evident from reduced level of myelin-basic protein in the arbora vitae. We also observed a higher number of astrocytes in Tsc2+/- rats of older age while the number of Purkinje cells (PCs) in these animals was lower than in wild-type controls. Unlike astrocytes and PCs, Bergmann glia remained unaltered at all ages in both genotypes, while the number of microglia was higher in Tsc2+/- rats of older age. The convergent evidence for a variety of age-dependent cellular changes in the cerebellum of rats associated with mTORC1 hyperactivity, thus, predicts an array of functional impairments, which may contribute to the developmental onset of an autism-like behavioral phenotype in this model. LAY SUMMARY: This study elucidates the impact of constitutive mTORC1 hyperactivity on cerebellar morphology and cellular organization in a rat model of autism and epilepsy. It describes age-dependent degeneration of Purkinje neurons, with demyelination of central tract as well as activation of microglia, and discusses the implications of these changes for neuro-behavioral phenotypes. The described changes provide new indications for the putative mechanisms underlying cerebellar impairments with their age-related onset, which may contribute to the pathobiology of autism, epilepsy, and related disorders. En ligne : http://dx.doi.org/10.1002/aur.2688 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents / Armin RAZNAHAN in Autism Research, 5-2 (April 2012)
[article]
Titre : Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents Type de document : Texte imprimé et/ou numérique Auteurs : Armin RAZNAHAN, Auteur ; Yohan LEE, Auteur ; Catherine VAITUZIS, Auteur ; Lan TRAN, Auteur ; Susan MACKIE, Auteur ; Henning TIEMEIER, Auteur ; Liv S. CLASEN, Auteur ; Francois LALONDE, Auteur ; Deanna GREENSTEIN, Auteur ; Ron PIERSON, Auteur ; Jay N. GIEDD, Auteur Année de publication : 2012 Article en page(s) : p.93-100 Langues : Anglais (eng) Mots-clés : autism HOXA1 cerebellum gene brain MRI Index. décimale : PER Périodiques Résumé : Homeobox A1 (HOXA1) has been proposed as a candidate gene for autism spectrum disorder (ASD) as it regulates embryological patterning of hind-brain structures implicated in autism neurobiology. In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1—A218G (rs10951154)—has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. Despite evidence for early onset and developmentally dynamic cerebellar involvement in ASD, little is known of the relationship between A218G genotype and maturation of the cerebellum over early development. We addressed this issue using 296 longitudinally acquired structural magnetic resonance imaging brain scans from 116 healthy individuals between 5 and 23 years of age. Mixed models were used to compare the relationship between age and semi-automated measures of cerebellar volume in A-homozygotes (AA) and carriers of the G allele (Gcar). Total cerebellar volume increased between ages of 5 and 23 years in both groups. However, this was accelerated in the Gcar relative to the AA group (Genotype-by-age interaction term, P = 0.03), and driven by genotype-dependent differences in the rate of bilateral superior posterior lobar volume change with age (P = 0.002). Resultantly, although superior posterior lobar volume did not differ significantly between genotype groups at age 5 (P = 0.9), by age 23 it was 12% greater in Gcar than AA (P = 0.002). Our results suggest that common genetic variation within this putative ASD risk gene has the capacity to modify the development of cerebellar systems implicated in ASD neurobiology. En ligne : http://dx.doi.org/10.1002/aur.238 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155
in Autism Research > 5-2 (April 2012) . - p.93-100[article] Allelic Variation Within the Putative Autism Spectrum Disorder Risk Gene Homeobox A1 and Cerebellar Maturation in Typically Developing Children and Adolescents [Texte imprimé et/ou numérique] / Armin RAZNAHAN, Auteur ; Yohan LEE, Auteur ; Catherine VAITUZIS, Auteur ; Lan TRAN, Auteur ; Susan MACKIE, Auteur ; Henning TIEMEIER, Auteur ; Liv S. CLASEN, Auteur ; Francois LALONDE, Auteur ; Deanna GREENSTEIN, Auteur ; Ron PIERSON, Auteur ; Jay N. GIEDD, Auteur . - 2012 . - p.93-100.
Langues : Anglais (eng)
in Autism Research > 5-2 (April 2012) . - p.93-100
Mots-clés : autism HOXA1 cerebellum gene brain MRI Index. décimale : PER Périodiques Résumé : Homeobox A1 (HOXA1) has been proposed as a candidate gene for autism spectrum disorder (ASD) as it regulates embryological patterning of hind-brain structures implicated in autism neurobiology. In line with this notion, a nonsynonymous single nucleotide polymorphism within a highly conserved domain of HOXA1—A218G (rs10951154)—has been linked to both ASD risk, and cross-sectional differences in superior posterior lobar cerebellar anatomy in late adulthood. Despite evidence for early onset and developmentally dynamic cerebellar involvement in ASD, little is known of the relationship between A218G genotype and maturation of the cerebellum over early development. We addressed this issue using 296 longitudinally acquired structural magnetic resonance imaging brain scans from 116 healthy individuals between 5 and 23 years of age. Mixed models were used to compare the relationship between age and semi-automated measures of cerebellar volume in A-homozygotes (AA) and carriers of the G allele (Gcar). Total cerebellar volume increased between ages of 5 and 23 years in both groups. However, this was accelerated in the Gcar relative to the AA group (Genotype-by-age interaction term, P = 0.03), and driven by genotype-dependent differences in the rate of bilateral superior posterior lobar volume change with age (P = 0.002). Resultantly, although superior posterior lobar volume did not differ significantly between genotype groups at age 5 (P = 0.9), by age 23 it was 12% greater in Gcar than AA (P = 0.002). Our results suggest that common genetic variation within this putative ASD risk gene has the capacity to modify the development of cerebellar systems implicated in ASD neurobiology. En ligne : http://dx.doi.org/10.1002/aur.238 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=155 An investigation of NFXL1, a gene implicated in a study of specific language impairment / R. NUDEL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
[article]
Titre : An investigation of NFXL1, a gene implicated in a study of specific language impairment Type de document : Texte imprimé et/ou numérique Auteurs : R. NUDEL, Auteur Article en page(s) : p.13 Langues : Anglais (eng) Mots-clés : Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor Index. décimale : PER Périodiques Résumé : BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. En ligne : http://dx.doi.org/10.1186/s11689-016-9146-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13[article] An investigation of NFXL1, a gene implicated in a study of specific language impairment [Texte imprimé et/ou numérique] / R. NUDEL, Auteur . - p.13.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13
Mots-clés : Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor Index. décimale : PER Périodiques Résumé : BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. En ligne : http://dx.doi.org/10.1186/s11689-016-9146-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 An investigation of upper limb motor function in high functioning autism and Asperger's disorder using a repetitive Fitts’ aiming task / Nicole PAPADOPOULOS in Research in Autism Spectrum Disorders, 6-1 (January-March 2012)
[article]
Titre : An investigation of upper limb motor function in high functioning autism and Asperger's disorder using a repetitive Fitts’ aiming task Type de document : Texte imprimé et/ou numérique Auteurs : Nicole PAPADOPOULOS, Auteur ; Jennifer L. MCGINLEY, Auteur ; Bruce J. TONGE, Auteur ; John L. BRADSHAW, Auteur ; Kerryn SAUNDERS, Auteur ; Nicole J. RINEHART, Auteur Année de publication : 2012 Article en page(s) : p.286-292 Langues : Anglais (eng) Mots-clés : Motor performance Autism Asperger's disorder Cerebellum Movement control Fitts’ task Index. décimale : PER Périodiques Résumé : There is now a growing body of research examining movement difficulties in children diagnosed with high functioning autism (HFA) and Asperger's disorder (AD). Despite this, few studies have investigated the kinematic components of movement that may be disrupted in children diagnosed with these disorders. The current study investigated rapid aiming movements in 19 individuals diagnosed with HFA, 20 individuals diagnosed with AD and 18 typically developing (TD) controls. A novel touchscreen version of a Fitts’ aiming task was administered that required participants to make 10 reciprocal aiming movements between targets. Task difficulty was manipulated by varying the size and distance between targets. Movement time in the HFA and AD groups was comparable to TD controls. Children with HFA displayed more constant and variable error across repeated aiming attempts compared to the TD group that may be attributed to deficits in feedforward online refinement of movement. These findings are in accordance with previous gait, ocular motor, upper limb and neuroimaging studies that suggest that the cerebellum may underlie movement disturbance in individuals diagnosed with HFA. Additionally, differences in the nature of upper limb motor disturbance in HFA may serve as a useful future adjunct to clinical measures. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.05.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=146
in Research in Autism Spectrum Disorders > 6-1 (January-March 2012) . - p.286-292[article] An investigation of upper limb motor function in high functioning autism and Asperger's disorder using a repetitive Fitts’ aiming task [Texte imprimé et/ou numérique] / Nicole PAPADOPOULOS, Auteur ; Jennifer L. MCGINLEY, Auteur ; Bruce J. TONGE, Auteur ; John L. BRADSHAW, Auteur ; Kerryn SAUNDERS, Auteur ; Nicole J. RINEHART, Auteur . - 2012 . - p.286-292.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 6-1 (January-March 2012) . - p.286-292
Mots-clés : Motor performance Autism Asperger's disorder Cerebellum Movement control Fitts’ task Index. décimale : PER Périodiques Résumé : There is now a growing body of research examining movement difficulties in children diagnosed with high functioning autism (HFA) and Asperger's disorder (AD). Despite this, few studies have investigated the kinematic components of movement that may be disrupted in children diagnosed with these disorders. The current study investigated rapid aiming movements in 19 individuals diagnosed with HFA, 20 individuals diagnosed with AD and 18 typically developing (TD) controls. A novel touchscreen version of a Fitts’ aiming task was administered that required participants to make 10 reciprocal aiming movements between targets. Task difficulty was manipulated by varying the size and distance between targets. Movement time in the HFA and AD groups was comparable to TD controls. Children with HFA displayed more constant and variable error across repeated aiming attempts compared to the TD group that may be attributed to deficits in feedforward online refinement of movement. These findings are in accordance with previous gait, ocular motor, upper limb and neuroimaging studies that suggest that the cerebellum may underlie movement disturbance in individuals diagnosed with HFA. Additionally, differences in the nature of upper limb motor disturbance in HFA may serve as a useful future adjunct to clinical measures. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.05.010 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=146 Cellular stress and apoptosis contribute to the pathogenesis of autism spectrum disorder / D. DONG in Autism Research, 11-7 (July 2018)
PermalinkCerebellar gray matter differentiates children with early language delay in autism / Anila M. D'MELLO in Autism Research, 9-11 (November 2016)
PermalinkDecreased parvalbumin mRNA levels in cerebellar Purkinje cells in autism / Jean-Jacques SOGHOMONIAN in Autism Research, 10-11 (November 2017)
PermalinkDeep phenotyping reveals movement phenotypes in mouse neurodevelopmental models / Ugne KLIBAITE in Molecular Autism, 13 (2022)
PermalinkEyeblink Conditioning: A Non-invasive Biomarker for Neurodevelopmental Disorders / Bethany C. REEB-SUTHERLAND in Journal of Autism and Developmental Disorders, 45-2 (February 2015)
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