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
5 recherche sur le mot-clé 'human'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
Comparison of white matter integrity between autism spectrum disorder subjects and typically developing individuals: a meta-analysis of diffusion tensor imaging tractography studies / Yuta AOKI in Molecular Autism, (July 2013)
[article]
Titre : Comparison of white matter integrity between autism spectrum disorder subjects and typically developing individuals: a meta-analysis of diffusion tensor imaging tractography studies Type de document : Texte imprimé et/ou numérique Auteurs : Yuta AOKI, Auteur ; Osamu ABE, Auteur ; Yasumasa NIPPASHI, Auteur ; Hidenori YAMASUE, Auteur Année de publication : 2013 Article en page(s) : 17 p. Langues : Anglais (eng) Mots-clés : Autistic disorder Asperger Brain Human Imaging Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : Background
Aberrant brain connectivity, especially with long-distance underconnectivity, has been recognized as a candidate pathophysiology of autism spectrum disorders. However, a number of diffusion tensor imaging studies investigating people with autism spectrum disorders have yielded inconsistent results.
Methods
To test the long-distance underconnectivity hypothesis, we performed a systematic review and meta-analysis of diffusion tensor imaging studies in subjects with autism spectrum disorder. Diffusion tensor imaging studies comparing individuals with autism spectrum disorders with typically developing individuals were searched using MEDLINE, Web of Science and EMBASE from 1980 through 1 August 2012. Standardized mean differences were calculated as an effect size of the tracts.
Results
A comprehensive literature search identified 25 relevant diffusion tensor imaging studies comparing autism spectrum disorders and typical development with regions-of-interest methods. Among these, 14 studies examining regions of interest with suprathreshold sample sizes were included in the meta-analysis. A random-effects model demonstrated significant fractional anisotropy reductions in the corpus callosum (P = 0.023, n = 387 (autism spectrum disorders/typically developing individuals: 208/179)), left uncinate fasciculus (P = 0.011, n = 242 (117/125)), and left superior longitudinal fasciculus (P = 0.016, n = 182 (96/86)), and significant increases of mean diffusivity in the corpus callosum (P = 0.006, n = 254 (129/125)) and superior longitudinal fasciculus bilaterally (P = 0.031 and 0.011, left and right, respectively, n = 109 (51/58)), in subjects with autism spectrum disorders compared with typically developing individuals with no significant publication bias.
Conclusion
The current meta-analysis of diffusion tensor imaging studies in subjects with autism spectrum disorders emphasizes important roles of the superior longitudinal fasciculus, uncinate fasciculus, and corpus callosum in the pathophysiology of autism spectrum disorders and supports the long-distance underconnectivity hypothesis.En ligne : http://dx.doi.org/10.1186/2040-2392-4-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211
in Molecular Autism > (July 2013) . - 17 p.[article] Comparison of white matter integrity between autism spectrum disorder subjects and typically developing individuals: a meta-analysis of diffusion tensor imaging tractography studies [Texte imprimé et/ou numérique] / Yuta AOKI, Auteur ; Osamu ABE, Auteur ; Yasumasa NIPPASHI, Auteur ; Hidenori YAMASUE, Auteur . - 2013 . - 17 p.
Langues : Anglais (eng)
in Molecular Autism > (July 2013) . - 17 p.
Mots-clés : Autistic disorder Asperger Brain Human Imaging Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : Background
Aberrant brain connectivity, especially with long-distance underconnectivity, has been recognized as a candidate pathophysiology of autism spectrum disorders. However, a number of diffusion tensor imaging studies investigating people with autism spectrum disorders have yielded inconsistent results.
Methods
To test the long-distance underconnectivity hypothesis, we performed a systematic review and meta-analysis of diffusion tensor imaging studies in subjects with autism spectrum disorder. Diffusion tensor imaging studies comparing individuals with autism spectrum disorders with typically developing individuals were searched using MEDLINE, Web of Science and EMBASE from 1980 through 1 August 2012. Standardized mean differences were calculated as an effect size of the tracts.
Results
A comprehensive literature search identified 25 relevant diffusion tensor imaging studies comparing autism spectrum disorders and typical development with regions-of-interest methods. Among these, 14 studies examining regions of interest with suprathreshold sample sizes were included in the meta-analysis. A random-effects model demonstrated significant fractional anisotropy reductions in the corpus callosum (P = 0.023, n = 387 (autism spectrum disorders/typically developing individuals: 208/179)), left uncinate fasciculus (P = 0.011, n = 242 (117/125)), and left superior longitudinal fasciculus (P = 0.016, n = 182 (96/86)), and significant increases of mean diffusivity in the corpus callosum (P = 0.006, n = 254 (129/125)) and superior longitudinal fasciculus bilaterally (P = 0.031 and 0.011, left and right, respectively, n = 109 (51/58)), in subjects with autism spectrum disorders compared with typically developing individuals with no significant publication bias.
Conclusion
The current meta-analysis of diffusion tensor imaging studies in subjects with autism spectrum disorders emphasizes important roles of the superior longitudinal fasciculus, uncinate fasciculus, and corpus callosum in the pathophysiology of autism spectrum disorders and supports the long-distance underconnectivity hypothesis.En ligne : http://dx.doi.org/10.1186/2040-2392-4-25 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=211 Physiological regulation in infants of women with a mood disorder: examining associations with maternal symptoms and stress / Katrina C. JOHNSON in Journal of Child Psychology and Psychiatry, 55-2 (February 2014)
[article]
Titre : Physiological regulation in infants of women with a mood disorder: examining associations with maternal symptoms and stress Type de document : Texte imprimé et/ou numérique Auteurs : Katrina C. JOHNSON, Auteur ; Patricia A. BRENNAN, Auteur ; Zachary N. STOWE, Auteur ; Ellen LEIBENLUFT, Auteur ; D. Jeffrey NEWPORT, Auteur Article en page(s) : p.191-198 Langues : Anglais (eng) Mots-clés : Bipolar depression RSA heart rate vagal stress infants human Index. décimale : PER Périodiques Résumé : Background The offspring of mothers with mood disorders may evidence increased behavioral problems as early as preschool; however, no study to date has examined psychophysiological characteristics during infancy, particularly among offspring of mothers diagnosed with bipolar disorder. Elucidating psychobiological mechanisms of risk early in development is critical to inform prevention and early intervention efforts. Method This study compared physiological and behavioral responsivity in 6-month-old infants (N = 329) of mothers with lifetime histories of bipolar disorder (BD, n = 44), major depressive disorder (MDD, n = 244), or no history of Axis I disorders (CTL, n = 41). Infant respiratory sinus arrhythmia (RSA) was measured in a laboratory stressor paradigm. Measures of infant affect and behavior during mother–infant interaction, current maternal depressive symptoms, and exposure to stressful life events were examined with respect to diagnostic group and RSA. Results Groups did not differ in baseline RSA or infant affect measures. However, during the stressor task, infants of mothers with BD evidenced increases in RSA, while infants of MDD and CTL mothers evidenced decreases in RSA. Though levels of postnatal stress and current levels of maternal depressive symptoms differed among groups, neither of these factors predicted infant psychophysiological responses. Conclusions At 6 months of age, infants of motrs with BD show differences in psychophysiological regulation. These differences cannot be accounted for by perinatal outcome, current maternal depressive symptoms, or exposure to stressful life events, and thus may reflect endophenotypic markers of psychopathological risk. En ligne : http://dx.doi.org/10.1111/jcpp.12130 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221
in Journal of Child Psychology and Psychiatry > 55-2 (February 2014) . - p.191-198[article] Physiological regulation in infants of women with a mood disorder: examining associations with maternal symptoms and stress [Texte imprimé et/ou numérique] / Katrina C. JOHNSON, Auteur ; Patricia A. BRENNAN, Auteur ; Zachary N. STOWE, Auteur ; Ellen LEIBENLUFT, Auteur ; D. Jeffrey NEWPORT, Auteur . - p.191-198.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 55-2 (February 2014) . - p.191-198
Mots-clés : Bipolar depression RSA heart rate vagal stress infants human Index. décimale : PER Périodiques Résumé : Background The offspring of mothers with mood disorders may evidence increased behavioral problems as early as preschool; however, no study to date has examined psychophysiological characteristics during infancy, particularly among offspring of mothers diagnosed with bipolar disorder. Elucidating psychobiological mechanisms of risk early in development is critical to inform prevention and early intervention efforts. Method This study compared physiological and behavioral responsivity in 6-month-old infants (N = 329) of mothers with lifetime histories of bipolar disorder (BD, n = 44), major depressive disorder (MDD, n = 244), or no history of Axis I disorders (CTL, n = 41). Infant respiratory sinus arrhythmia (RSA) was measured in a laboratory stressor paradigm. Measures of infant affect and behavior during mother–infant interaction, current maternal depressive symptoms, and exposure to stressful life events were examined with respect to diagnostic group and RSA. Results Groups did not differ in baseline RSA or infant affect measures. However, during the stressor task, infants of mothers with BD evidenced increases in RSA, while infants of MDD and CTL mothers evidenced decreases in RSA. Though levels of postnatal stress and current levels of maternal depressive symptoms differed among groups, neither of these factors predicted infant psychophysiological responses. Conclusions At 6 months of age, infants of motrs with BD show differences in psychophysiological regulation. These differences cannot be accounted for by perinatal outcome, current maternal depressive symptoms, or exposure to stressful life events, and thus may reflect endophenotypic markers of psychopathological risk. En ligne : http://dx.doi.org/10.1111/jcpp.12130 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=221 Psychotic symptoms in 16p11.2 copy-number variant carriers / Amandeep JUTLA in Autism Research, 13-2 (February 2020)
[article]
Titre : Psychotic symptoms in 16p11.2 copy-number variant carriers Type de document : Texte imprimé et/ou numérique Auteurs : Amandeep JUTLA, Auteur ; J. Blake TURNER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.187-198 Langues : Anglais (eng) Mots-clés : autism spectrum disorder chromosome deletion chromosome duplication chromosomes human obsessive-compulsive disorder pair 16 phenotype schizophrenia spectrum and other psychotic disorders Index. décimale : PER Périodiques Résumé : 16p11.2 copy-number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder (ASD) and the duplication associated with schizophrenia (SCZ). The 16p11.2 CNV may therefore provide insight into the relationship between ASD and SCZ, distinct disorders that co-occur at an elevated rate, and are difficult to distinguish from each other and from common co-occurring diagnoses such as obsessive compulsive disorder (OCD), itself a potential risk factor for SCZ. As psychotic symptoms are core to SCZ but distinct from ASD, we sought to examine their predictors in a population (n = 546) of 16p11.2 CNV carriers and their noncarrier siblings recruited by the Simons Variation in Individuals Project. We hypothesized that psychotic symptoms would be most common in duplication carriers followed by deletion carriers and noncarriers, that an ASD diagnosis would predict psychotic symptoms among CNV carriers, and that OCD symptoms would predict psychotic symptoms among all participants. Using data collected across multiple measures, we identified 19 participants with psychotic symptoms. Logistic regression models adjusting for biological sex, age, and IQ found that 16p11.2 duplication and ASD diagnosis predicted psychotic symptom presence. Our findings suggest that the association between 16p11.2 duplication and psychotic symptoms is independent of ASD diagnosis and that ASD diagnosis and psychotic symptoms may be associated in 16p11.2 CNV carriers. Autism Res 2020, 13: 187-198. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Either deletion or duplication at chromosome 16p11.2 raises the risk of autism spectrum disorder, and duplication, but not deletion, has been reported in schizophrenia (SCZ). In a sample of 16p11.2 deletion and duplication carriers, we found that having the duplication or having an autism diagnosis may increase the risk of psychosis, a key feature of SCZ. En ligne : http://dx.doi.org/10.1002/aur.2232 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420
in Autism Research > 13-2 (February 2020) . - p.187-198[article] Psychotic symptoms in 16p11.2 copy-number variant carriers [Texte imprimé et/ou numérique] / Amandeep JUTLA, Auteur ; J. Blake TURNER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.187-198.
Langues : Anglais (eng)
in Autism Research > 13-2 (February 2020) . - p.187-198
Mots-clés : autism spectrum disorder chromosome deletion chromosome duplication chromosomes human obsessive-compulsive disorder pair 16 phenotype schizophrenia spectrum and other psychotic disorders Index. décimale : PER Périodiques Résumé : 16p11.2 copy-number variation (CNV) is implicated in neurodevelopmental disorders, with the duplication and deletion associated with autism spectrum disorder (ASD) and the duplication associated with schizophrenia (SCZ). The 16p11.2 CNV may therefore provide insight into the relationship between ASD and SCZ, distinct disorders that co-occur at an elevated rate, and are difficult to distinguish from each other and from common co-occurring diagnoses such as obsessive compulsive disorder (OCD), itself a potential risk factor for SCZ. As psychotic symptoms are core to SCZ but distinct from ASD, we sought to examine their predictors in a population (n = 546) of 16p11.2 CNV carriers and their noncarrier siblings recruited by the Simons Variation in Individuals Project. We hypothesized that psychotic symptoms would be most common in duplication carriers followed by deletion carriers and noncarriers, that an ASD diagnosis would predict psychotic symptoms among CNV carriers, and that OCD symptoms would predict psychotic symptoms among all participants. Using data collected across multiple measures, we identified 19 participants with psychotic symptoms. Logistic regression models adjusting for biological sex, age, and IQ found that 16p11.2 duplication and ASD diagnosis predicted psychotic symptom presence. Our findings suggest that the association between 16p11.2 duplication and psychotic symptoms is independent of ASD diagnosis and that ASD diagnosis and psychotic symptoms may be associated in 16p11.2 CNV carriers. Autism Res 2020, 13: 187-198. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Either deletion or duplication at chromosome 16p11.2 raises the risk of autism spectrum disorder, and duplication, but not deletion, has been reported in schizophrenia (SCZ). In a sample of 16p11.2 deletion and duplication carriers, we found that having the duplication or having an autism diagnosis may increase the risk of psychosis, a key feature of SCZ. En ligne : http://dx.doi.org/10.1002/aur.2232 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=420 Risk Factors Associated with Self-Injurious Behaviors in Children and Adolescents with Autism Spectrum Disorders / Emma G. DUERDEN in Journal of Autism and Developmental Disorders, 42-11 (November 2012)
[article]
Titre : Risk Factors Associated with Self-Injurious Behaviors in Children and Adolescents with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Emma G. DUERDEN, Auteur ; Hannah OATLEY, Auteur ; Kathleen M. MAK-FAN, Auteur ; Patricia MCGRATH, Auteur ; Margot J. TAYLOR, Auteur ; Peter SZATMARI, Auteur ; S. ROBERTS, Auteur Article en page(s) : p.2460-2470 Langues : Anglais (eng) Mots-clés : Pain Sensory Self-injury Autism Human Index. décimale : PER Périodiques Résumé : While self-injurious behaviors (SIB) can cause significant morbidity for children with autism spectrum disorders (ASD), little is known about its associated risk factors. We assessed 7 factors that may influence self-injury in a large cohort of children with ASD: (a) atypical sensory processing; (b) impaired cognitive ability; (c) abnormal functional communication; (d) abnormal social functioning; (e) age; (f) the need for sameness; (g) rituals and compulsions. Half (52.3%, n = 126) of the children (n = 241, aged 2–19 years) demonstrated SIB. Abnormal sensory processing was the strongest single predictor of self-injury followed by sameness, impaired cognitive ability and social functioning. Since atypical sensory processing and sameness have a greater relative impact on SIB, treatment approaches that focus on these factors may be beneficial in reducing self-harm in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1497-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183
in Journal of Autism and Developmental Disorders > 42-11 (November 2012) . - p.2460-2470[article] Risk Factors Associated with Self-Injurious Behaviors in Children and Adolescents with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Emma G. DUERDEN, Auteur ; Hannah OATLEY, Auteur ; Kathleen M. MAK-FAN, Auteur ; Patricia MCGRATH, Auteur ; Margot J. TAYLOR, Auteur ; Peter SZATMARI, Auteur ; S. ROBERTS, Auteur . - p.2460-2470.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 42-11 (November 2012) . - p.2460-2470
Mots-clés : Pain Sensory Self-injury Autism Human Index. décimale : PER Périodiques Résumé : While self-injurious behaviors (SIB) can cause significant morbidity for children with autism spectrum disorders (ASD), little is known about its associated risk factors. We assessed 7 factors that may influence self-injury in a large cohort of children with ASD: (a) atypical sensory processing; (b) impaired cognitive ability; (c) abnormal functional communication; (d) abnormal social functioning; (e) age; (f) the need for sameness; (g) rituals and compulsions. Half (52.3%, n = 126) of the children (n = 241, aged 2–19 years) demonstrated SIB. Abnormal sensory processing was the strongest single predictor of self-injury followed by sameness, impaired cognitive ability and social functioning. Since atypical sensory processing and sameness have a greater relative impact on SIB, treatment approaches that focus on these factors may be beneficial in reducing self-harm in children with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1497-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=183 Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex / M. SCHWEDE in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex Type de document : Texte imprimé et/ou numérique Auteurs : M. SCHWEDE, Auteur ; S. NAGPAL, Auteur ; M. J. GANDAL, Auteur ; N. N. PARIKSHAK, Auteur ; K. MIRNICS, Auteur ; D. H. GESCHWIND, Auteur ; E. M. MORROW, Auteur Année de publication : 2018 Article en page(s) : 18 p. Langues : Anglais (eng) Mots-clés : Autism Cortex Human Post-mortem Transcriptome Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quantitative differences in gene expression between patient-derived tissues and control. These studies may pinpoint genes relevant to pathophysiology yet circumvent the need to understand genetic architecture or gene-by-environment interactions leading to disease. METHODS: We conducted alternate gene set enrichment analyses using differentially expressed genes from a previously published RNA-seq study of post-mortem autism cerebral cortex. We used three previously published microarray datasets for validation and one of the microarray datasets for additional differential expression analysis. The RNA-seq study used 26 autism and 33 control brains in differential gene expression analysis, and the largest microarray dataset contained 15 autism and 16 control post-mortem brains. RESULTS: While performing a gene set enrichment analysis of genes differentially expressed in the RNA-seq study, we discovered that genes associated with mitochondrial function were downregulated in autism cerebral cortex, as compared to control. These genes were correlated with genes related to synaptic function. We validated these findings across the multiple microarray datasets. We also did separate differential expression and gene set enrichment analyses to confirm the importance of the mitochondrial pathway among downregulated genes in post-mortem autism cerebral cortex. CONCLUSIONS: We found that genes related to mitochondrial function were differentially expressed in autism cerebral cortex and correlated with genes related to synaptic transmission. Our principal findings replicate across all datasets investigated. Further, these findings may potentially replicate in other diseases, such as in schizophrenia. En ligne : http://dx.doi.org/10.1186/s11689-018-9237-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 18 p.[article] Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex [Texte imprimé et/ou numérique] / M. SCHWEDE, Auteur ; S. NAGPAL, Auteur ; M. J. GANDAL, Auteur ; N. N. PARIKSHAK, Auteur ; K. MIRNICS, Auteur ; D. H. GESCHWIND, Auteur ; E. M. MORROW, Auteur . - 2018 . - 18 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 18 p.
Mots-clés : Autism Cortex Human Post-mortem Transcriptome Index. décimale : PER Périodiques Résumé : BACKGROUND: Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quantitative differences in gene expression between patient-derived tissues and control. These studies may pinpoint genes relevant to pathophysiology yet circumvent the need to understand genetic architecture or gene-by-environment interactions leading to disease. METHODS: We conducted alternate gene set enrichment analyses using differentially expressed genes from a previously published RNA-seq study of post-mortem autism cerebral cortex. We used three previously published microarray datasets for validation and one of the microarray datasets for additional differential expression analysis. The RNA-seq study used 26 autism and 33 control brains in differential gene expression analysis, and the largest microarray dataset contained 15 autism and 16 control post-mortem brains. RESULTS: While performing a gene set enrichment analysis of genes differentially expressed in the RNA-seq study, we discovered that genes associated with mitochondrial function were downregulated in autism cerebral cortex, as compared to control. These genes were correlated with genes related to synaptic function. We validated these findings across the multiple microarray datasets. We also did separate differential expression and gene set enrichment analyses to confirm the importance of the mitochondrial pathway among downregulated genes in post-mortem autism cerebral cortex. CONCLUSIONS: We found that genes related to mitochondrial function were differentially expressed in autism cerebral cortex and correlated with genes related to synaptic transmission. Our principal findings replicate across all datasets investigated. Further, these findings may potentially replicate in other diseases, such as in schizophrenia. En ligne : http://dx.doi.org/10.1186/s11689-018-9237-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386