Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Résultat de la recherche
4 recherche sur le mot-clé 'Brain volume'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Autism spectrum disorder and brain volume link through a set of mTOR-related genes / Martina ARENELLA in Journal of Child Psychology and Psychiatry, 64-7 (July 2023)
[article]
Titre : Autism spectrum disorder and brain volume link through a set of mTOR-related genes Type de document : Texte imprimé et/ou numérique Auteurs : Martina ARENELLA, Auteur ; Nina R. MOTA, Auteur ; Mariel W. A. TEUNISSEN, Auteur ; Han G. BRUNNER, Auteur ; Janita BRALTEN, Auteur Article en page(s) : p.1007-1014 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders genetics brain volume mammalian target of rapamycin stratified genetic correlation Index. décimale : PER Périodiques Résumé : Background Larger than average head and brain sizes are often observed in individuals with autism spectrum disorders (ASDs). ASD and brain volume are both highly heritable, with multiple genetic variants contributing. However, it is unclear whether ASD and brain volume share any genetic mechanisms. Genes from the mammalian target of rapamycin (mTOR) pathway influence brain volume, and variants are found in rare genetic syndromes that include ASD features. Here we investigated whether variants in mTOR-related genes are also associated with ASD and if they constitute a genetic link between large brains and ASD. Methods We extended our analyses between large heads (macrocephaly) and rare de novo mTOR-related variants in an intellectual disability cohort (N = 2,258). Subsequently using Fisher's exact tests we investigated the co-occurrence of mTOR-related de novo variants and ASD in the de-novo-db database (N = 23,098). We next selected common genetic variants within a set of 96 mTOR-related genes in genome-wide genetic association data of ASD (N = 46,350) to test gene-set association using MAGMA. Lastly, we tested genetic correlation between genome-wide genetic association data of ASD (N = 46,350) and intracranial volume (N = 25,974) globally using linkage disequilibrium score regression as well as mTOR specific by restricting the genetic correlation to the mTOR-related genes using GNOVA. Results Our results show that both macrocephaly and ASD occur above chance level in individuals carrying rare de novo variants in mTOR-related genes. We found a significant mTOR gene-set association with ASD (p = .0029) and an mTOR-stratified positive genetic correlation between ASD and intracranial volume (p = .027), despite the absence of a significant genome-wide correlation (p = .81). Conclusions This work indicates that both rare and common variants in mTOR-related genes are associated with brain volume and ASD and genetically correlate them in the expected direction. We demonstrate that genes involved in mTOR signalling are potential mediators of the relationship between having a large brain and having ASD. En ligne : https://doi.org/10.1111/jcpp.13783 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508
in Journal of Child Psychology and Psychiatry > 64-7 (July 2023) . - p.1007-1014[article] Autism spectrum disorder and brain volume link through a set of mTOR-related genes [Texte imprimé et/ou numérique] / Martina ARENELLA, Auteur ; Nina R. MOTA, Auteur ; Mariel W. A. TEUNISSEN, Auteur ; Han G. BRUNNER, Auteur ; Janita BRALTEN, Auteur . - p.1007-1014.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 64-7 (July 2023) . - p.1007-1014
Mots-clés : Autism spectrum disorders genetics brain volume mammalian target of rapamycin stratified genetic correlation Index. décimale : PER Périodiques Résumé : Background Larger than average head and brain sizes are often observed in individuals with autism spectrum disorders (ASDs). ASD and brain volume are both highly heritable, with multiple genetic variants contributing. However, it is unclear whether ASD and brain volume share any genetic mechanisms. Genes from the mammalian target of rapamycin (mTOR) pathway influence brain volume, and variants are found in rare genetic syndromes that include ASD features. Here we investigated whether variants in mTOR-related genes are also associated with ASD and if they constitute a genetic link between large brains and ASD. Methods We extended our analyses between large heads (macrocephaly) and rare de novo mTOR-related variants in an intellectual disability cohort (N = 2,258). Subsequently using Fisher's exact tests we investigated the co-occurrence of mTOR-related de novo variants and ASD in the de-novo-db database (N = 23,098). We next selected common genetic variants within a set of 96 mTOR-related genes in genome-wide genetic association data of ASD (N = 46,350) to test gene-set association using MAGMA. Lastly, we tested genetic correlation between genome-wide genetic association data of ASD (N = 46,350) and intracranial volume (N = 25,974) globally using linkage disequilibrium score regression as well as mTOR specific by restricting the genetic correlation to the mTOR-related genes using GNOVA. Results Our results show that both macrocephaly and ASD occur above chance level in individuals carrying rare de novo variants in mTOR-related genes. We found a significant mTOR gene-set association with ASD (p = .0029) and an mTOR-stratified positive genetic correlation between ASD and intracranial volume (p = .027), despite the absence of a significant genome-wide correlation (p = .81). Conclusions This work indicates that both rare and common variants in mTOR-related genes are associated with brain volume and ASD and genetically correlate them in the expected direction. We demonstrate that genes involved in mTOR signalling are potential mediators of the relationship between having a large brain and having ASD. En ligne : https://doi.org/10.1111/jcpp.13783 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=508 Differences in age-related effects on brain volume in Down syndrome as compared to Williams syndrome and typical development / M. E. KORAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
[article]
Titre : Differences in age-related effects on brain volume in Down syndrome as compared to Williams syndrome and typical development Type de document : Texte imprimé et/ou numérique Auteurs : M. E. KORAN, Auteur ; T. J. HOHMAN, Auteur ; C. M. EDWARDS, Auteur ; J. N. VEGA, Auteur ; J. R. PRYWELLER, Auteur ; L. E. SLOSKY, Auteur ; G. CROCKETT, Auteur ; L. VILLA DE REY, Auteur ; S. A. MEDA, Auteur ; N. DANKNER, Auteur ; S. N. AVERY, Auteur ; J. U. BLACKFORD, Auteur ; E. M. DYKENS, Auteur ; T. A. THORNTON-WELLS, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Mots-clés : Apoe Accelerated aging Alzheimer's disease Brain volume Down syndrome Mri Neurodevelopmental disorder Neuroimaging genetics Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes might be contributing to the observed pattern of brain atrophy in younger adults with DS. The aims of the current study were to: (1) to confirm previous findings of age-related changes in DS compared to adults with typical development (TD), (2) to test for an effect of these age-related changes in a second neurodevelopmental disorder, Williams syndrome (WS), and (3) to identify a pattern of regional age-related effects that are unique to DS. METHODS: High-resolution T1-weighted MRI of the brains of subjects with DS, WS, and TD controls were segmented, and estimates of regional brain volume were derived using FreeSurfer. A general linear model was employed to test for age-related effects on volume between groups. Secondary analyses in the DS group explored the relationship between brain volume and neuropsychological tests and APOE. RESULTS: Consistent with previous findings, the DS group showed significantly greater age-related effects relative to TD controls in total gray matter and in regions of the orbitofrontal cortex and the parietal cortex. Individuals with DS also showed significantly greater age-related effects on volume of the left and right inferior lateral ventricles (LILV and RILV, respectively). There were no significant differences in age-related effects on volume when comparing the WS and TD groups. In the DS group, cognitive tests scores measuring signs of dementia and APOE 4 carrier status were associated with LILV and RILV volume. CONCLUSIONS: Individuals with DS demonstrated a unique pattern of age-related effects on gray matter and ventricular volume, the latter of which was associated with dementia rating scores in the DS group. Results may indicate that early onset of brain aging in DS is primarily due to DS-specific neurodegenerative processes, as opposed to general atypical neurodevelopment. En ligne : http://dx.doi.org/10.1186/1866-1955-6-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.8[article] Differences in age-related effects on brain volume in Down syndrome as compared to Williams syndrome and typical development [Texte imprimé et/ou numérique] / M. E. KORAN, Auteur ; T. J. HOHMAN, Auteur ; C. M. EDWARDS, Auteur ; J. N. VEGA, Auteur ; J. R. PRYWELLER, Auteur ; L. E. SLOSKY, Auteur ; G. CROCKETT, Auteur ; L. VILLA DE REY, Auteur ; S. A. MEDA, Auteur ; N. DANKNER, Auteur ; S. N. AVERY, Auteur ; J. U. BLACKFORD, Auteur ; E. M. DYKENS, Auteur ; T. A. THORNTON-WELLS, Auteur . - p.8.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.8
Mots-clés : Apoe Accelerated aging Alzheimer's disease Brain volume Down syndrome Mri Neurodevelopmental disorder Neuroimaging genetics Williams syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes might be contributing to the observed pattern of brain atrophy in younger adults with DS. The aims of the current study were to: (1) to confirm previous findings of age-related changes in DS compared to adults with typical development (TD), (2) to test for an effect of these age-related changes in a second neurodevelopmental disorder, Williams syndrome (WS), and (3) to identify a pattern of regional age-related effects that are unique to DS. METHODS: High-resolution T1-weighted MRI of the brains of subjects with DS, WS, and TD controls were segmented, and estimates of regional brain volume were derived using FreeSurfer. A general linear model was employed to test for age-related effects on volume between groups. Secondary analyses in the DS group explored the relationship between brain volume and neuropsychological tests and APOE. RESULTS: Consistent with previous findings, the DS group showed significantly greater age-related effects relative to TD controls in total gray matter and in regions of the orbitofrontal cortex and the parietal cortex. Individuals with DS also showed significantly greater age-related effects on volume of the left and right inferior lateral ventricles (LILV and RILV, respectively). There were no significant differences in age-related effects on volume when comparing the WS and TD groups. In the DS group, cognitive tests scores measuring signs of dementia and APOE 4 carrier status were associated with LILV and RILV volume. CONCLUSIONS: Individuals with DS demonstrated a unique pattern of age-related effects on gray matter and ventricular volume, the latter of which was associated with dementia rating scores in the DS group. Results may indicate that early onset of brain aging in DS is primarily due to DS-specific neurodegenerative processes, as opposed to general atypical neurodevelopment. En ligne : http://dx.doi.org/10.1186/1866-1955-6-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 Evidence against the "normalization" prediction of the early brain overgrowth hypothesis of autism / Lisa D. YANKOWITZ in Molecular Autism, 11 (2020)
[article]
Titre : Evidence against the "normalization" prediction of the early brain overgrowth hypothesis of autism Type de document : Texte imprimé et/ou numérique Auteurs : Lisa D. YANKOWITZ, Auteur ; John D. HERRINGTON, Auteur ; Benjamin E YERYS, Auteur ; Joseph A. PEREIRA, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur Année de publication : 2020 Article en page(s) : 51 p. Langues : Anglais (eng) Mots-clés : Adolescent Autism Brain volume Iq Mri Structural imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: The frequently cited Early Overgrowth Hypothesis of autism spectrum disorder (ASD) postulates that there is overgrowth of the brain in the first 2 years of life, which is followed by a period of arrested growth leading to normalized brain volume in late childhood and beyond. While there is consistent evidence for early brain overgrowth, there is mixed evidence for normalization of brain volume by middle childhood. The outcome of this debate is important to understanding the etiology and neurodevelopmental trajectories of ASD. METHODS: Brain volume was examined in two very large single-site samples of children, adolescents, and adults. The primary sample comprised 456 6-25-year-olds (ASD n = 240, typically developing controls (TDC) n = 216), including a large number of females (n = 102) and spanning a wide IQ range (47-158). The replication sample included 175 males. High-resolution T1-weighted anatomical MRI images were examined for group differences in total brain, cerebellar, ventricular, gray, and white matter volumes. RESULTS: The ASD group had significantly larger total brain, cerebellar, gray matter, white matter, and lateral ventricular volumes in both samples, indicating that brain volume remains enlarged through young adulthood, rather than normalizing. There were no significant age or sex interactions with diagnosis in these measures. However, a significant diagnosis-by-IQ interaction was detected in the larger sample, such that increased brain volume was related to higher IQ in the TDCs, but not in the ASD group. Regions-of-significance analysis indicated that total brain volume was larger in ASD than TDC for individuals with IQ less than 115, providing a potential explanation for prior inconsistent brain size results. No relationships were found between brain volume and measures of autism symptom severity within the ASD group. LIMITATIONS: Our cross-sectional sample may not reflect individual changes over time in brain volume and cannot quantify potential changes in volume prior to age 6. CONCLUSIONS: These findings challenge the "normalization" prediction of the brain overgrowth hypothesis by demonstrating that brain enlargement persists across childhood into early adulthood. The findings raise questions about the clinical implications of brain enlargement, since we find that it neither confers cognitive benefits nor predicts increased symptom severity in ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00353-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 51 p.[article] Evidence against the "normalization" prediction of the early brain overgrowth hypothesis of autism [Texte imprimé et/ou numérique] / Lisa D. YANKOWITZ, Auteur ; John D. HERRINGTON, Auteur ; Benjamin E YERYS, Auteur ; Joseph A. PEREIRA, Auteur ; Juhi PANDEY, Auteur ; Robert T. SCHULTZ, Auteur . - 2020 . - 51 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 51 p.
Mots-clés : Adolescent Autism Brain volume Iq Mri Structural imaging Index. décimale : PER Périodiques Résumé : BACKGROUND: The frequently cited Early Overgrowth Hypothesis of autism spectrum disorder (ASD) postulates that there is overgrowth of the brain in the first 2 years of life, which is followed by a period of arrested growth leading to normalized brain volume in late childhood and beyond. While there is consistent evidence for early brain overgrowth, there is mixed evidence for normalization of brain volume by middle childhood. The outcome of this debate is important to understanding the etiology and neurodevelopmental trajectories of ASD. METHODS: Brain volume was examined in two very large single-site samples of children, adolescents, and adults. The primary sample comprised 456 6-25-year-olds (ASD n = 240, typically developing controls (TDC) n = 216), including a large number of females (n = 102) and spanning a wide IQ range (47-158). The replication sample included 175 males. High-resolution T1-weighted anatomical MRI images were examined for group differences in total brain, cerebellar, ventricular, gray, and white matter volumes. RESULTS: The ASD group had significantly larger total brain, cerebellar, gray matter, white matter, and lateral ventricular volumes in both samples, indicating that brain volume remains enlarged through young adulthood, rather than normalizing. There were no significant age or sex interactions with diagnosis in these measures. However, a significant diagnosis-by-IQ interaction was detected in the larger sample, such that increased brain volume was related to higher IQ in the TDCs, but not in the ASD group. Regions-of-significance analysis indicated that total brain volume was larger in ASD than TDC for individuals with IQ less than 115, providing a potential explanation for prior inconsistent brain size results. No relationships were found between brain volume and measures of autism symptom severity within the ASD group. LIMITATIONS: Our cross-sectional sample may not reflect individual changes over time in brain volume and cannot quantify potential changes in volume prior to age 6. CONCLUSIONS: These findings challenge the "normalization" prediction of the brain overgrowth hypothesis by demonstrating that brain enlargement persists across childhood into early adulthood. The findings raise questions about the clinical implications of brain enlargement, since we find that it neither confers cognitive benefits nor predicts increased symptom severity in ASD. En ligne : http://dx.doi.org/10.1186/s13229-020-00353-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism / Heather C. HAZLETT in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
[article]
Titre : Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism Type de document : Texte imprimé et/ou numérique Auteurs : Heather C. HAZLETT, Auteur ; M. D. POE, Auteur ; A. A. LIGHTBODY, Auteur ; G. GERIG, Auteur ; J. R. MACFALL, Auteur ; A. K. ROSS, Auteur ; J. PROVENZALE, Auteur ; A. MARTIN, Auteur ; A. L. REISS, Auteur ; J. PIVEN, Auteur Article en page(s) : p.81-90 Langues : Anglais (eng) Mots-clés : Amygdala Autism Brain volume Caudate Children Fragile X syndrome Structural MRI Index. décimale : PER Périodiques Résumé : To examine brain volumes in substructures associated with the behavioral features of children with FXS compared to children with idiopathic autism and controls. A cross-sectional study of brain substructures was conducted at the first time-point as part of an ongoing longitudinal MRI study of brain development in FXS. The study included 52 boys between 18-42 months of age with FXS and 118 comparison children (boys with autism-non FXS, developmental-delay, and typical development). Children with FXS and autistic disorder had substantially enlarged caudate volume and smaller amygdala volume; whereas those children with autistic disorder without FXS (i.e., idiopathic autism) had only modest enlargement in their caudate nucleus volumes but more robust enlargement of their amygdala volumes. Although we observed this double dissociation among selected brain volumes, no significant differences in severity of autistic behavior between these groups were observed. This study offers a unique examination of early brain development in two disorders, FXS and idiopathic autism, with overlapping behavioral features, but two distinct patterns of brain morphology. We observed that despite almost a third of our FXS sample meeting criteria for autism, the profile of brain volume differences for children with FXS and autism differed from those with idiopathic autism. These findings underscore the importance of addressing heterogeneity in studies of autistic behavior. En ligne : http://dx.doi.org/10.1007/s11689-009-9009-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341
in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.81-90[article] Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism [Texte imprimé et/ou numérique] / Heather C. HAZLETT, Auteur ; M. D. POE, Auteur ; A. A. LIGHTBODY, Auteur ; G. GERIG, Auteur ; J. R. MACFALL, Auteur ; A. K. ROSS, Auteur ; J. PROVENZALE, Auteur ; A. MARTIN, Auteur ; A. L. REISS, Auteur ; J. PIVEN, Auteur . - p.81-90.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.81-90
Mots-clés : Amygdala Autism Brain volume Caudate Children Fragile X syndrome Structural MRI Index. décimale : PER Périodiques Résumé : To examine brain volumes in substructures associated with the behavioral features of children with FXS compared to children with idiopathic autism and controls. A cross-sectional study of brain substructures was conducted at the first time-point as part of an ongoing longitudinal MRI study of brain development in FXS. The study included 52 boys between 18-42 months of age with FXS and 118 comparison children (boys with autism-non FXS, developmental-delay, and typical development). Children with FXS and autistic disorder had substantially enlarged caudate volume and smaller amygdala volume; whereas those children with autistic disorder without FXS (i.e., idiopathic autism) had only modest enlargement in their caudate nucleus volumes but more robust enlargement of their amygdala volumes. Although we observed this double dissociation among selected brain volumes, no significant differences in severity of autistic behavior between these groups were observed. This study offers a unique examination of early brain development in two disorders, FXS and idiopathic autism, with overlapping behavioral features, but two distinct patterns of brain morphology. We observed that despite almost a third of our FXS sample meeting criteria for autism, the profile of brain volume differences for children with FXS and autism differed from those with idiopathic autism. These findings underscore the importance of addressing heterogeneity in studies of autistic behavior. En ligne : http://dx.doi.org/10.1007/s11689-009-9009-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341