Données génétiques dans les syndromes autistiques / Hilde PEETERS in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E., 100 (Décembre 2008)

Public ISBD [article]  inApproche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 100 (Décembre 2008) . - p.285-290 Titre : Données génétiques dans les syndromes autistiques Type de document : texte imprimé Auteurs : Hilde PEETERS, Auteur ; A. CREPEL, Auteur ; J.P. FRYNS, Auteur ; Koenraad DEVRIENDT, Auteur Année de publication : 2008 Article en page(s) : p.285-290 Langues : Français (fre) Mots-clés : Autisme Syndrome-autistique Génétique Troubles-neurologiques-du-développement X-fragile Index. décimale : PER Périodiques Résumé : Alors qu’il y ajuste 30 ans les origines biologiques de l’autisme étaient niées, nous savons aujourd’hui qu’il existe une origine génétique identifiable chez environ 15% des patients présentant des troubles du spectre autistique. Néanmoins, la majorité d’entre eux présentent une forme syndromique d’autisme. Les formes d’autisme non syndromique seraient d’origine polygénique, et c’est précisément ce caractère endopolygénique ainsi que l’hétérogénéité génétique qui sont les raisons essentielles de la lente progression de cette identification génétique. Des études familiales faisant appel à un phénotypage extensif et l’identification d’endophénotypes pourraient être des moyens possibles de relever un tel défi. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=763 [article] Données génétiques dans les syndromes autistiques [texte imprimé] / Hilde PEETERS, Auteur ; A. CREPEL, Auteur ; J.P. FRYNS, Auteur ; Koenraad DEVRIENDT, Auteur . - 2008 . - p.285-290. Langues : Français (fre) in Approche Neuropsychologique des Apprentissages chez l'Enfant - A.N.A.E. > 100 (Décembre 2008) . - p.285-290 Mots-clés : Autisme Syndrome-autistique Génétique Troubles-neurologiques-du-développement X-fragile Index. décimale : PER Périodiques Résumé : Alors qu’il y ajuste 30 ans les origines biologiques de l’autisme étaient niées, nous savons aujourd’hui qu’il existe une origine génétique identifiable chez environ 15% des patients présentant des troubles du spectre autistique. Néanmoins, la majorité d’entre eux présentent une forme syndromique d’autisme. Les formes d’autisme non syndromique seraient d’origine polygénique, et c’est précisément ce caractère endopolygénique ainsi que l’hétérogénéité génétique qui sont les raisons essentielles de la lente progression de cette identification génétique. Des études familiales faisant appel à un phénotypage extensif et l’identification d’endophénotypes pourraient être des moyens possibles de relever un tel défi. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=763

Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder? / Lien VAN EYLEN in Journal of Child Psychology and Psychiatry, 58-3 (March 2017)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 58-3 (March 2017) . - p.258-269 Titre : Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder? Type de document : texte imprimé Auteurs : Lien VAN EYLEN, Auteur ; Bart BOETS, Auteur ; Nele COSEMANS, Auteur ; Hilde PEETERS, Auteur ; Jean STEYAERT, Auteur ; Johan WAGEMANS, Auteur ; Ilse NOENS, Auteur Article en page(s) : p.258-269 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  relatives  intermediate phenotype  executive functioning  central coherence Index. décimale : PER Périodiques Résumé : Background Heterogeneity within autism spectrum disorder (ASD) hampers insight in the etiology and stimulates the search for endophenotypes. Endophenotypes should meet several criteria, the most important being the association with ASD and the higher occurrence rate in unaffected ASD relatives than in the general population. We evaluated these criteria for executive functioning (EF) and local-global (L-G) visual processing. Methods By administering an extensive cognitive battery which increases the validity of the measures, we examined which of the cognitive anomalies shown by ASD probands also occur in their unaffected relatives (n = 113) compared to typically developing (TD) controls (n = 100). Microarrays were performed, so we could exclude relatives from probands with a de novo mutation in a known ASD susceptibility copy number variant, thus increasing the probability that genetic risk variants are shared by the ASD relatives. An overview of studies investigating EF and L-G processing in ASD relatives was also provided. Results For EF, ASD relatives – like ASD probands – showed impairments in response inhibition, cognitive flexibility and generativity (specifically, ideational fluency), and EF impairments in daily life. For L-G visual processing, the ASD relatives showed no anomalies on the tasks, but they reported more attention to detail in daily life. Group differences were similar for siblings and for parents of ASD probands, and yielded larger effect sizes in a multiplex subsample. The group effect sizes for the comparison between ASD probands and TD individuals were generally larger than those of the ASD relatives compared to TD individuals. Conclusions Impaired cognitive flexibility, ideational fluency and response inhibition are strong candidate endophenotypes for ASD. They could help to delineate etiologically more homogeneous subgroups, which is clinically important to allow assigning ASD probands to different, more targeted, interventions. En ligne : http://dx.doi.org/10.1111/jcpp.12637 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303 [article] Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder? [texte imprimé] / Lien VAN EYLEN, Auteur ; Bart BOETS, Auteur ; Nele COSEMANS, Auteur ; Hilde PEETERS, Auteur ; Jean STEYAERT, Auteur ; Johan WAGEMANS, Auteur ; Ilse NOENS, Auteur . - p.258-269. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 58-3 (March 2017) . - p.258-269 Mots-clés : Autism spectrum disorder  relatives  intermediate phenotype  executive functioning  central coherence Index. décimale : PER Périodiques Résumé : Background Heterogeneity within autism spectrum disorder (ASD) hampers insight in the etiology and stimulates the search for endophenotypes. Endophenotypes should meet several criteria, the most important being the association with ASD and the higher occurrence rate in unaffected ASD relatives than in the general population. We evaluated these criteria for executive functioning (EF) and local-global (L-G) visual processing. Methods By administering an extensive cognitive battery which increases the validity of the measures, we examined which of the cognitive anomalies shown by ASD probands also occur in their unaffected relatives (n = 113) compared to typically developing (TD) controls (n = 100). Microarrays were performed, so we could exclude relatives from probands with a de novo mutation in a known ASD susceptibility copy number variant, thus increasing the probability that genetic risk variants are shared by the ASD relatives. An overview of studies investigating EF and L-G processing in ASD relatives was also provided. Results For EF, ASD relatives – like ASD probands – showed impairments in response inhibition, cognitive flexibility and generativity (specifically, ideational fluency), and EF impairments in daily life. For L-G visual processing, the ASD relatives showed no anomalies on the tasks, but they reported more attention to detail in daily life. Group differences were similar for siblings and for parents of ASD probands, and yielded larger effect sizes in a multiplex subsample. The group effect sizes for the comparison between ASD probands and TD individuals were generally larger than those of the ASD relatives compared to TD individuals. Conclusions Impaired cognitive flexibility, ideational fluency and response inhibition are strong candidate endophenotypes for ASD. They could help to delineate etiologically more homogeneous subgroups, which is clinically important to allow assigning ASD probands to different, more targeted, interventions. En ligne : http://dx.doi.org/10.1111/jcpp.12637 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=303

Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells / Sahar AVAZZADEH in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 52 p. Titre : Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells Type de document : texte imprimé Auteurs : Sahar AVAZZADEH, Auteur ; Katya MCDONAGH, Auteur ; Jamie REILLY, Auteur ; Yao WANG, Auteur ; Stephanie D. BOOMKAMP, Auteur ; Veronica MCINERNEY, Auteur ; Janusz KRAWCZYK, Auteur ; Jacqueline FITZGERALD, Auteur ; Niamh FEERICK, Auteur ; Matthew O'SULLIVAN, Auteur ; Amirhossein JALALI, Auteur ; Eva B. FORMAN, Auteur ; Sally A. LYNCH, Auteur ; Sean ENNIS, Auteur ; Nele COSEMANS, Auteur ; Hilde PEETERS, Auteur ; Peter DOCKERY, Auteur ; Timothy O'BRIEN, Auteur ; Leo R. QUINLAN, Auteur ; Louise GALLAGHER, Auteur ; Sanbing SHEN, Auteur Article en page(s) : 52 p. Langues : Anglais (eng) Mots-clés : Autism  Calcium signaling  Induced pluripotent stem cells  NRXN1alpha  Neurons  Transcriptome Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences of NRXN1 lesions to human neurons in different diseases. Methods: Skin biopsies were donated by five healthy donors and three ASD patients carrying NRXN1alpha (+/-) deletions. Seven control and six NRXN1alpha (+/-) iPSC lines were derived and differentiated into day 100 cortical excitatory neurons using dual SMAD inhibition. Calcium (Ca(2+)) imaging was performed using Fluo4-AM, and the properties of Ca(2+) transients were compared between two groups of neurons. Transcriptome analysis was carried out to undercover molecular pathways associated with NRXN1alpha (+/-) neurons. Results: NRXN1alpha (+/-) neurons were found to display altered calcium dynamics, with significantly increased frequency, duration, and amplitude of Ca(2+) transients. Whole genome RNA sequencing also revealed altered ion transport and transporter activity, with upregulated voltage-gated calcium channels as one of the most significant pathways in NRXN1alpha (+/-) neurons identified by STRING and GSEA analyses. Conclusions: This is the first report to show that human NRXN1alpha (+/-) neurons derived from ASD patients' iPSCs present novel phenotypes of upregulated VGCCs and increased Ca(2+) transients, which may facilitate the development of drug screening assays for the treatment of ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0303-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells [texte imprimé] / Sahar AVAZZADEH, Auteur ; Katya MCDONAGH, Auteur ; Jamie REILLY, Auteur ; Yao WANG, Auteur ; Stephanie D. BOOMKAMP, Auteur ; Veronica MCINERNEY, Auteur ; Janusz KRAWCZYK, Auteur ; Jacqueline FITZGERALD, Auteur ; Niamh FEERICK, Auteur ; Matthew O'SULLIVAN, Auteur ; Amirhossein JALALI, Auteur ; Eva B. FORMAN, Auteur ; Sally A. LYNCH, Auteur ; Sean ENNIS, Auteur ; Nele COSEMANS, Auteur ; Hilde PEETERS, Auteur ; Peter DOCKERY, Auteur ; Timothy O'BRIEN, Auteur ; Leo R. QUINLAN, Auteur ; Louise GALLAGHER, Auteur ; Sanbing SHEN, Auteur . - 52 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 52 p. Mots-clés : Autism  Calcium signaling  Induced pluripotent stem cells  NRXN1alpha  Neurons  Transcriptome Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a high co-morbidity of epilepsy and associated with hundreds of rare risk factors. NRXN1 deletion is among the commonest rare genetic factors shared by ASD, schizophrenia, intellectual disability, epilepsy, and developmental delay. However, how NRXN1 deletions lead to different clinical symptoms is unknown. Patient-derived cells are essential to investigate the functional consequences of NRXN1 lesions to human neurons in different diseases. Methods: Skin biopsies were donated by five healthy donors and three ASD patients carrying NRXN1alpha (+/-) deletions. Seven control and six NRXN1alpha (+/-) iPSC lines were derived and differentiated into day 100 cortical excitatory neurons using dual SMAD inhibition. Calcium (Ca(2+)) imaging was performed using Fluo4-AM, and the properties of Ca(2+) transients were compared between two groups of neurons. Transcriptome analysis was carried out to undercover molecular pathways associated with NRXN1alpha (+/-) neurons. Results: NRXN1alpha (+/-) neurons were found to display altered calcium dynamics, with significantly increased frequency, duration, and amplitude of Ca(2+) transients. Whole genome RNA sequencing also revealed altered ion transport and transporter activity, with upregulated voltage-gated calcium channels as one of the most significant pathways in NRXN1alpha (+/-) neurons identified by STRING and GSEA analyses. Conclusions: This is the first report to show that human NRXN1alpha (+/-) neurons derived from ASD patients' iPSCs present novel phenotypes of upregulated VGCCs and increased Ca(2+) transients, which may facilitate the development of drug screening assays for the treatment of ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0303-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Platelet studies in autism spectrum disorder patients and first-degree relatives / Nora BIJL in Molecular Autism, (October 2015)  

Public ISBD [article]  inMolecular Autism > (October 2015) . - p.1-10 Titre : Platelet studies in autism spectrum disorder patients and first-degree relatives Type de document : texte imprimé Auteurs : Nora BIJL, Auteur ; Chantal THYS, Auteur ; Christine WITTEVRONGEL, Auteur ; Wouter DE LA MARCHE, Auteur ; Koenraad DEVRIENDT, Auteur ; Hilde PEETERS, Auteur ; Chris VAN GEET, Auteur ; Kathleen FRESON, Auteur Article en page(s) : p.1-10 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Platelets have been proven to be a useful cellular model to study some neuropathologies, due to the overlapping biological features between neurons and platelets as granule secreting cells. Altered platelet dense granule morphology was previously reported in three autism spectrum disorder (ASD) patients with chromosomal translocations that disrupted ASD candidate genes NBEA, SCAMP5, and AMYSIN, but a systematic analysis of platelet function in ASD is lacking in contrast to numerous reports of elevated serotonin levels in platelets and blood as potential biomarker for ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0051-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] Platelet studies in autism spectrum disorder patients and first-degree relatives [texte imprimé] / Nora BIJL, Auteur ; Chantal THYS, Auteur ; Christine WITTEVRONGEL, Auteur ; Wouter DE LA MARCHE, Auteur ; Koenraad DEVRIENDT, Auteur ; Hilde PEETERS, Auteur ; Chris VAN GEET, Auteur ; Kathleen FRESON, Auteur . - p.1-10. Langues : Anglais (eng) in Molecular Autism > (October 2015) . - p.1-10 Index. décimale : PER Périodiques Résumé : Platelets have been proven to be a useful cellular model to study some neuropathologies, due to the overlapping biological features between neurons and platelets as granule secreting cells. Altered platelet dense granule morphology was previously reported in three autism spectrum disorder (ASD) patients with chromosomal translocations that disrupted ASD candidate genes NBEA, SCAMP5, and AMYSIN, but a systematic analysis of platelet function in ASD is lacking in contrast to numerous reports of elevated serotonin levels in platelets and blood as potential biomarker for ASD. En ligne : http://dx.doi.org/10.1186/s13229-015-0051-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

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