3 recherche sur le mot-clé 'Velocardiofacial Syndrome'

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype? / Kathleen ANGKUSTSIRI in Journal of Autism and Developmental Disorders, 44-4 (April 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-4 (April 2014) . - p.739-746 Titre : Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype? Type de document : Texte imprimé et/ou numérique Auteurs : Kathleen ANGKUSTSIRI, Auteur ; Beth GOODLIN-JONES, Auteur ; Lesley DEPREY, Auteur ; Khyati BRAHMBHATT, Auteur ; Susan HARRIS, Auteur ; Tony J. SIMON, Auteur Année de publication : 2014 Article en page(s) : p.739-746 Langues : Anglais (eng) Mots-clés : Autism  ASD  22q11.2 deletion syndrome  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD. En ligne : http://dx.doi.org/10.1007/s10803-013-1920-x Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2286 [article] Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype? [Texte imprimé et/ou numérique] / Kathleen ANGKUSTSIRI, Auteur ; Beth GOODLIN-JONES, Auteur ; Lesley DEPREY, Auteur ; Khyati BRAHMBHATT, Auteur ; Susan HARRIS, Auteur ; Tony J. SIMON, Auteur . - 2014 . - p.739-746. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-4 (April 2014) . - p.739-746 Mots-clés : Autism  ASD  22q11.2 deletion syndrome  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : High prevalence of autism spectrum disorders (ASD) has been reported in 22q11.2DS, although this has been based solely on parent report measures. This study describes the presence of ASD using a procedure more similar to that used in clinical practice by incorporating history (Social Communication Questionnaire) AND a standardized observation measure (Autism Diagnostic Observation Schedule) and suggests that ASD is not as common as previously reported in 22q11.2DS. Differences in methodology, along with comorbid conditions such as anxiety, likely contribute to false elevations in ASD prevalence and information from multiple sources should be included in the evaluation of ASD. En ligne : http://dx.doi.org/10.1007/s10803-013-1920-x Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2286

Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology / Ashley F. P. SANDERS in Journal of Autism and Developmental Disorders, 47-4 (April 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.992-1005 Titre : Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology Type de document : Texte imprimé et/ou numérique Auteurs : Ashley F. P. SANDERS, Auteur ; Diana A. HOBBS, Auteur ; David D. STEPHENSON, Auteur ; Robert D. LAIRD, Auteur ; Elliott A. BEATON, Auteur Article en page(s) : p.992-1005 Langues : Anglais (eng) Mots-clés : Anxiety  Chromosome 22q11.2DS  DiGeorge Syndrome  Stress  Velocardiofacial Syndrome  Working memory Index. décimale : PER Périodiques Résumé : Stress and anxiety have a negative impact on working memory systems by competing for executive resources and attention. Broad memory deficits, anxiety, and elevated stress have been reported in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). We investigated anxiety and physiological stress reactivity in relation to visuospatial working memory impairments in 20 children with 22q11.2DS and 32 typically developing (TD) children ages 7 to 16. Children with 22q11.2DS demonstrated poorer working memory, reduced post-stress respiratory sinus arrhythmia recovery, and overall increased levels of cortisol in comparison to TD children. Anxiety, but not physiological stress responsivity, mediated the relationship between 22q11.2DS diagnosis and visuospatial working memory impairment. Findings indicate that anxiety exacerbates impaired working memory in children with 22q11.2DS. En ligne : http://dx.doi.org/10.1007/s10803-016-3011-2 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3048 [article] Working Memory Impairments in Chromosome 22q11.2 Deletion Syndrome: The Roles of Anxiety and Stress Physiology [Texte imprimé et/ou numérique] / Ashley F. P. SANDERS, Auteur ; Diana A. HOBBS, Auteur ; David D. STEPHENSON, Auteur ; Robert D. LAIRD, Auteur ; Elliott A. BEATON, Auteur . - p.992-1005. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.992-1005 Mots-clés : Anxiety  Chromosome 22q11.2DS  DiGeorge Syndrome  Stress  Velocardiofacial Syndrome  Working memory Index. décimale : PER Périodiques Résumé : Stress and anxiety have a negative impact on working memory systems by competing for executive resources and attention. Broad memory deficits, anxiety, and elevated stress have been reported in individuals with chromosome 22q11.2 deletion syndrome (22q11.2DS). We investigated anxiety and physiological stress reactivity in relation to visuospatial working memory impairments in 20 children with 22q11.2DS and 32 typically developing (TD) children ages 7 to 16. Children with 22q11.2DS demonstrated poorer working memory, reduced post-stress respiratory sinus arrhythmia recovery, and overall increased levels of cortisol in comparison to TD children. Anxiety, but not physiological stress responsivity, mediated the relationship between 22q11.2DS diagnosis and visuospatial working memory impairment. Findings indicate that anxiety exacerbates impaired working memory in children with 22q11.2DS. En ligne : http://dx.doi.org/10.1007/s10803-016-3011-2 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3048

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms / A. GUNA in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.18 Titre : Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms Type de document : Texte imprimé et/ou numérique Auteurs : A. GUNA, Auteur ; N. J. BUTCHER, Auteur ; A. S. BASSETT, Auteur Article en page(s) : p.18 Langues : Anglais (eng) Mots-clés : Animal models  Dgcr8  DiGeorge syndrome  Homolog  Homology  Prodh  Slc25a1  Tbx1  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. METHODS: We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. RESULTS: There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. CONCLUSIONS: Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes. En ligne : http://dx.doi.org/10.1186/s11689-015-9113-x Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3477 [article] Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms [Texte imprimé et/ou numérique] / A. GUNA, Auteur ; N. J. BUTCHER, Auteur ; A. S. BASSETT, Auteur . - p.18. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.18 Mots-clés : Animal models  Dgcr8  DiGeorge syndrome  Homolog  Homology  Prodh  Slc25a1  Tbx1  Velocardiofacial syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is the most common micro-deletion syndrome. The associated 22q11.2 deletion conveys the strongest known molecular risk for schizophrenia. Neurodevelopmental phenotypes, including intellectual disability, are also prominent though variable in severity. Other developmental features include congenital cardiac and craniofacial anomalies. Whereas existing mouse models have been helpful in determining the role of some genes overlapped by the hemizygous 22q11.2 deletion in phenotypic expression, much remains unknown. Simple model organisms remain largely unexploited in exploring these genotype-phenotype relationships. METHODS: We first developed a comprehensive map of the human 22q11.2 deletion region, delineating gene content, and brain expression. To identify putative orthologs, standard methods were used to interrogate the proteomes of the zebrafish (D. rerio), fruit fly (D. melanogaster), and worm (C. elegans), in addition to the mouse. Spatial locations of conserved homologues were mapped to examine syntenic relationships. We systematically cataloged available knockout and knockdown models of all conserved genes across these organisms, including a comprehensive review of associated phenotypes. RESULTS: There are 90 genes overlapped by the typical 2.5 Mb deletion 22q11.2 region. Of the 46 protein-coding genes, 41 (89.1 %) have documented expression in the human brain. Identified homologues in the zebrafish (n = 37, 80.4 %) were comparable to those in the mouse (n = 40, 86.9 %) and included some conserved gene cluster structures. There were 22 (47.8 %) putative homologues in the fruit fly and 17 (37.0 %) in the worm involving multiple chromosomes. Individual gene knockdown mutants were available for the simple model organisms, but not for mouse. Although phenotypic data were relatively limited for knockout and knockdown models of the 17 genes conserved across all species, there was some evidence for roles in neurodevelopmental phenotypes, including four of the six mitochondrial genes in the 22q11.2 deletion region. CONCLUSIONS: Simple model organisms represent a powerful but underutilized means of investigating the molecular mechanisms underlying the elevated risk for neurodevelopmental disorders in 22q11.2DS. This comparative multi-species study provides novel resources and support for the potential utility of non-mouse models in expression studies and high-throughput drug screening. The approach has implications for other recurrent copy number variations associated with neurodevelopmental phenotypes. En ligne : http://dx.doi.org/10.1186/s11689-015-9113-x Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3477