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Faire une suggestionActions de prévention de l’association Orthophonie et Prévention 17 (OP17) / Anne-Sophie BARRIER in Rééducation Orthophonique, 277 (Mars 2019)
[article]
Titre : Actions de prévention de l’association Orthophonie et Prévention 17 (OP17) Type de document : texte imprimé Auteurs : Anne-Sophie BARRIER, Auteur ; Elodie DERRIEN-PASCUAL, Auteur Année de publication : 2019 Article en page(s) : p.39-46 Langues : Français (fre) Mots-clés : prévention association réseau interprofessionnel autonomisation pathologies Index. décimale : PER Périodiques Résumé : Orthophonie et Prévention 17, association créée en 2003, souhaite alerter le grand public sur les pathologies accompagnées en orthophonie: des troubles du langage oral et écrit à l’ensemble des troubles de la communication, des troubles des fonctions oro-myo-faciales aux troubles de la phonation, des troubles de la cognition mathématique aux troubles des fonctions cognitives dont celles liées à des pathologies neurodégénératives... Pour ce faire, différentes actions sont proposées tout au long de l’année avec des objectifs et des moyens variés. Tout d’abord, les orthophonistes bénévoles ont à coeur de proposer une information au grand public en allant directement à la rencontre des personnes, ce qui permet une meilleure visibilité de notre pratique et de l’ensemble des pathologies rencontrées dans notre profession. Par ailleurs, nous cherchons à ce que certains projets puissent être réinvestis et diffusés par d’autres orthophonistes. Enfin, nous avons souhaité remettre le patient au coeur de certains projets en partant directement de son témoignage, son regard sur sa propre pathologie étant d’une incroyable richesse. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=387
in Rééducation Orthophonique > 277 (Mars 2019) . - p.39-46[article] Actions de prévention de l’association Orthophonie et Prévention 17 (OP17) [texte imprimé] / Anne-Sophie BARRIER, Auteur ; Elodie DERRIEN-PASCUAL, Auteur . - 2019 . - p.39-46.
Langues : Français (fre)
in Rééducation Orthophonique > 277 (Mars 2019) . - p.39-46
Mots-clés : prévention association réseau interprofessionnel autonomisation pathologies Index. décimale : PER Périodiques Résumé : Orthophonie et Prévention 17, association créée en 2003, souhaite alerter le grand public sur les pathologies accompagnées en orthophonie: des troubles du langage oral et écrit à l’ensemble des troubles de la communication, des troubles des fonctions oro-myo-faciales aux troubles de la phonation, des troubles de la cognition mathématique aux troubles des fonctions cognitives dont celles liées à des pathologies neurodégénératives... Pour ce faire, différentes actions sont proposées tout au long de l’année avec des objectifs et des moyens variés. Tout d’abord, les orthophonistes bénévoles ont à coeur de proposer une information au grand public en allant directement à la rencontre des personnes, ce qui permet une meilleure visibilité de notre pratique et de l’ensemble des pathologies rencontrées dans notre profession. Par ailleurs, nous cherchons à ce que certains projets puissent être réinvestis et diffusés par d’autres orthophonistes. Enfin, nous avons souhaité remettre le patient au coeur de certains projets en partant directement de son témoignage, son regard sur sa propre pathologie étant d’une incroyable richesse. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=387 Les aides de l'AGEFIPH en faveur des jeunes déficients intellectuels en matière de formation et d'insertion professionnelle / Pierre GRAPIN
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Disponibilité aucun exemplaire Association and Promoter Analysis of AVPR1A in Finnish Autism Families / Katri KANTOJARVI in Autism Research, 8-5 (October 2015)
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[article]
Titre : Association and Promoter Analysis of AVPR1A in Finnish Autism Families Type de document : texte imprimé Auteurs : Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur Article en page(s) : p.634-639 Langues : Anglais (eng) Mots-clés : autism AVPR1A association transcription factors network analysis promoter analysis MEF2C PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270
in Autism Research > 8-5 (October 2015) . - p.634-639[article] Association and Promoter Analysis of AVPR1A in Finnish Autism Families [texte imprimé] / Katri KANTOJARVI, Auteur ; Jaana OIKKONEN, Auteur ; Ilona KOTALA, Auteur ; Jenni KALLELA, Auteur ; Raija VANHALA, Auteur ; Päivi ONKAMO, Auteur ; Irma JARVELA, Auteur . - p.634-639.
Langues : Anglais (eng)
in Autism Research > 8-5 (October 2015) . - p.634-639
Mots-clés : autism AVPR1A association transcription factors network analysis promoter analysis MEF2C PBX Index. décimale : PER Périodiques Résumé : The arginine vasopressin receptor 1A gene (AVPR1A) is known to affect social communication and has been reported to associate with autism in several studies. Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk. Here we carried out an extended association analysis of three microsatellites and 12 tag single nucleotide polymorphisms (SNPs) in and around the AVPR1A gene in 205 Finnish families followed by promoter analysis. FBAT version v2.0.3 was used for family-based genetic association analyses of AVPR1A microsatellites and SNPs. The nearby microsatellite RS1 was found to harbor the best association. Interestingly, there are two potentially relevant transcription factor (TF) binding sites at RS1: for MEF2C and PBX, predicted with the Match algorithm in the TRANSFAC® database. Sequence variations changing the affinity of these TFs might partly explain the AVPR1A promoter region associations shown in autism. Autism Res 2015, 8: 634–639. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1473 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=270 Association between schizophrenia and autism spectrum disorder: A systematic review and meta-analysis / Zhen ZHENG in Autism Research, 11-8 (August 2018)
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Titre : Association between schizophrenia and autism spectrum disorder: A systematic review and meta-analysis Type de document : texte imprimé Auteurs : Zhen ZHENG, Auteur ; Peng ZHENG, Auteur ; Xiaobing ZOU, Auteur Article en page(s) : p.1110-1119 Langues : Anglais (eng) Mots-clés : association autism spectrum disorder meta-analysis schizophrenia Index. décimale : PER Périodiques Résumé : Schizophrenia and autism spectrum disorder (ASD) are significant public health problems. Scientists have recently explored the association between schizophrenia and ASD, but the findings are inconsistent. Thus, we conducted a systematic review and meta-analysis of epidemiological studies to examine the association between schizophrenia and ASD. PubMed, Embase, and the Cochrane Library were used for literature searches to identify eligible studies published in English before October 2, 2017. Relevant studies estimating the association between schizophrenia and ASD were included. The meta-analysis of the prevalence of schizophrenia in individuals with ASD encompassed 1,950,113 participants and 14,945 individuals with ASD. A random-effects model was chosen to synthesize the effect sizes of individual studies. The prevalence of schizophrenia was significantly higher in individuals with ASD than in controls (odds ratio = 3.55, 95% confidence interval: 2.08-6.05, P < .001). Both sensitivity analysis and publication bias testing revealed that the findings were robust. The systematic review of the prevalence of ASD in individuals with schizophrenia encompassed 930 participants. The prevalence of ASD in individuals with schizophrenia ranged from 3.4 to 52%. The systematic review and meta-analysis showed a significant association between schizophrenia and ASD. Autism Research 2018, 11: 1110-1119. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This systematic review and meta-analysis explored the association between schizophrenia and ASD. We found that the prevalence of schizophrenia was significantly higher in individuals with ASD than in controls and the prevalence of ASD in individuals with schizophrenia ranged from 3.4 to 52%. A comprehensive estimation of schizophrenia and ASD has important implications for the diagnosis, treatment, prognosis, and development of a fundamental understanding of these disorders. En ligne : http://dx.doi.org/10.1002/aur.1977 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369
in Autism Research > 11-8 (August 2018) . - p.1110-1119[article] Association between schizophrenia and autism spectrum disorder: A systematic review and meta-analysis [texte imprimé] / Zhen ZHENG, Auteur ; Peng ZHENG, Auteur ; Xiaobing ZOU, Auteur . - p.1110-1119.
Langues : Anglais (eng)
in Autism Research > 11-8 (August 2018) . - p.1110-1119
Mots-clés : association autism spectrum disorder meta-analysis schizophrenia Index. décimale : PER Périodiques Résumé : Schizophrenia and autism spectrum disorder (ASD) are significant public health problems. Scientists have recently explored the association between schizophrenia and ASD, but the findings are inconsistent. Thus, we conducted a systematic review and meta-analysis of epidemiological studies to examine the association between schizophrenia and ASD. PubMed, Embase, and the Cochrane Library were used for literature searches to identify eligible studies published in English before October 2, 2017. Relevant studies estimating the association between schizophrenia and ASD were included. The meta-analysis of the prevalence of schizophrenia in individuals with ASD encompassed 1,950,113 participants and 14,945 individuals with ASD. A random-effects model was chosen to synthesize the effect sizes of individual studies. The prevalence of schizophrenia was significantly higher in individuals with ASD than in controls (odds ratio = 3.55, 95% confidence interval: 2.08-6.05, P < .001). Both sensitivity analysis and publication bias testing revealed that the findings were robust. The systematic review of the prevalence of ASD in individuals with schizophrenia encompassed 930 participants. The prevalence of ASD in individuals with schizophrenia ranged from 3.4 to 52%. The systematic review and meta-analysis showed a significant association between schizophrenia and ASD. Autism Research 2018, 11: 1110-1119. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This systematic review and meta-analysis explored the association between schizophrenia and ASD. We found that the prevalence of schizophrenia was significantly higher in individuals with ASD than in controls and the prevalence of ASD in individuals with schizophrenia ranged from 3.4 to 52%. A comprehensive estimation of schizophrenia and ASD has important implications for the diagnosis, treatment, prognosis, and development of a fundamental understanding of these disorders. En ligne : http://dx.doi.org/10.1002/aur.1977 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=369 Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype / Gregor DOMES in Journal of Neurodevelopmental Disorders, 17 (2025)
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Titre : Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype Type de document : texte imprimé Auteurs : Gregor DOMES, Auteur ; Marie-Anne CROYÉ, Auteur ; Petra FREILINGER, Auteur ; Andreas BOHLSCHEID, Auteur ; Winfried A. WILLINEK, Auteur ; Jobst MEYER, Auteur Langues : Anglais (eng) Mots-clés : Humans Female Adult Gray Matter/pathology/diagnostic imaging Magnetic Resonance Imaging Young Adult Adolescent Middle Aged Sex Chromosome Disorders of Sex Development/pathology/diagnostic imaging Brain/pathology/diagnostic imaging Trisomy/pathology Cerebral Cortex/pathology/diagnostic imaging Organ Size Sex Chromosome Aberrations Sex Chromosome Disorders/pathology/diagnostic imaging Chromosomes, Human, X 47,xxx Amygdala Basal ganglia Cerebellum Hippocampus Morphometry Triple X syndrome Trisomy X authors declare no competing interests. Ethical approval and consent to participate: The study was conducted in accordance with the Declaration of Helsinki. The protocol was approved by the ethics committee of the state medical association Rhineland-Palatinate (#2022–16572). Participants gave written-informed consent before participation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing. METHODS: Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women (aged 18-49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans. RESULTS: Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions. CONCLUSION: The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature. En ligne : https://dx.doi.org/10.1186/s11689-025-09608-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576
in Journal of Neurodevelopmental Disorders > 17 (2025)[article] Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype [texte imprimé] / Gregor DOMES, Auteur ; Marie-Anne CROYÉ, Auteur ; Petra FREILINGER, Auteur ; Andreas BOHLSCHEID, Auteur ; Winfried A. WILLINEK, Auteur ; Jobst MEYER, Auteur.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 17 (2025)
Mots-clés : Humans Female Adult Gray Matter/pathology/diagnostic imaging Magnetic Resonance Imaging Young Adult Adolescent Middle Aged Sex Chromosome Disorders of Sex Development/pathology/diagnostic imaging Brain/pathology/diagnostic imaging Trisomy/pathology Cerebral Cortex/pathology/diagnostic imaging Organ Size Sex Chromosome Aberrations Sex Chromosome Disorders/pathology/diagnostic imaging Chromosomes, Human, X 47,xxx Amygdala Basal ganglia Cerebellum Hippocampus Morphometry Triple X syndrome Trisomy X authors declare no competing interests. Ethical approval and consent to participate: The study was conducted in accordance with the Declaration of Helsinki. The protocol was approved by the ethics committee of the state medical association Rhineland-Palatinate (#2022–16572). Participants gave written-informed consent before participation. Index. décimale : PER Périodiques Résumé : BACKGROUND: Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. However, the empirical evidence from adults is very limited and group comparison on a voxel-wise basis for gray matter volume and cortical thickness is still missing. METHODS: Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women (aged 18-49 years) with 47,XXX karyotype using T1-weighted 3T MRI scans. RESULTS: Compared to an age- and education-matched control group (and controlled for differences in total intracranial volume), the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions. CONCLUSION: The observed network is significantly involved in the processing of cognitive, affective, and social stimuli and might be a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature. En ligne : https://dx.doi.org/10.1186/s11689-025-09608-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 PermalinkPermalinkComplex effects of dyslexia risk factors account for ADHD traits: evidence from two independent samples / Sara MASCHERETTI in Journal of Child Psychology and Psychiatry, 58-1 (January 2017)
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PermalinkLa contribution de l'AFDET à la nécessaire évolution de la formation professionnelle de niveau V / Jean-Marc GIOVANNETTI
PermalinkEnquête auprès de l’Association d’Aide à la Reconnaissance des Enfants Intellectuellement Précoces (AAREIP) / A. BESSOU in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 67 (Juin 2002)
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