Dépouillements

The benefit of directly comparing autism and schizophrenia for revealing mechanisms of social cognitive impairment / Noah J. SASSON in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.87-100 Titre : The benefit of directly comparing autism and schizophrenia for revealing mechanisms of social cognitive impairment Type de document : Texte imprimé et/ou numérique Auteurs : Noah J. SASSON, Auteur ; A. E. PINKHAM, Auteur ; Kimberly L. H. CARPENTER, Auteur ; Aysenil BELGER, Auteur Article en page(s) : p.87-100 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism and schizophrenia share a history of diagnostic conflation that was not definitively resolved until the publication of the DSM-III in 1980. Though now recognized as heterogeneous disorders with distinct developmental trajectories and dissociative features, much of the early nosological confusion stemmed from apparent overlap in certain areas of social dysfunction. In more recent years, separate but substantial literatures have accumulated for autism and schizophrenia demonstrating that abnormalities in social cognition directly contribute to the characteristic social deficits of both disorders. The current paper argues that direct comparison of social cognitive impairment can highlight shared and divergent mechanisms underlying pathways to social dysfunction, a process that can provide significant clinical benefit by informing the development of tailored treatment efforts. Thus, while the history of diagnostic conflation between autism and schizophrenia may have originated in similarities in social dysfunction, the goal of direct comparisons is not to conflate them once again but rather to reveal distinctions that illuminate disorder-specific mechanisms and pathways that contribute to social cognitive impairment. En ligne : http://dx.doi.org/10.1007/s11689-010-9068-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] The benefit of directly comparing autism and schizophrenia for revealing mechanisms of social cognitive impairment [Texte imprimé et/ou numérique] / Noah J. SASSON, Auteur ; A. E. PINKHAM, Auteur ; Kimberly L. H. CARPENTER, Auteur ; Aysenil BELGER, Auteur . - p.87-100. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.87-100 Index. décimale : PER Périodiques Résumé : Autism and schizophrenia share a history of diagnostic conflation that was not definitively resolved until the publication of the DSM-III in 1980. Though now recognized as heterogeneous disorders with distinct developmental trajectories and dissociative features, much of the early nosological confusion stemmed from apparent overlap in certain areas of social dysfunction. In more recent years, separate but substantial literatures have accumulated for autism and schizophrenia demonstrating that abnormalities in social cognition directly contribute to the characteristic social deficits of both disorders. The current paper argues that direct comparison of social cognitive impairment can highlight shared and divergent mechanisms underlying pathways to social dysfunction, a process that can provide significant clinical benefit by informing the development of tailored treatment efforts. Thus, while the history of diagnostic conflation between autism and schizophrenia may have originated in similarities in social dysfunction, the goal of direct comparisons is not to conflate them once again but rather to reveal distinctions that illuminate disorder-specific mechanisms and pathways that contribute to social cognitive impairment. En ligne : http://dx.doi.org/10.1007/s11689-010-9068-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder / Daniel B. CAMPBELL in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Titre : Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Daniel B. CAMPBELL, Auteur ; D. DATTA, Auteur ; S. T. JONES, Auteur ; Evon BATEY LEE, Auteur ; J. S. SUTCLIFFE, Auteur ; E. A. HAMMOCK, Auteur ; P. LEVITT, Auteur Article en page(s) : p.101-12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder [Texte imprimé et/ou numérique] / Daniel B. CAMPBELL, Auteur ; D. DATTA, Auteur ; S. T. JONES, Auteur ; Evon BATEY LEE, Auteur ; J. S. SUTCLIFFE, Auteur ; E. A. HAMMOCK, Auteur ; P. LEVITT, Auteur . - p.101-12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.101-12 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide range of social behaviors. In attempts to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility, seven recent reports indicated association of common genetic polymorphisms in the OXTR gene with ASD. Each involved relatively small sample sizes (57 to 436 families) and, where it was examined, failed to identify association of OXTR polymorphisms with measures of social behavior in individuals with ASD. We report genetic association analysis of 25 markers spanning the OXTR locus in 1,238 pedigrees including 2,333 individuals with ASD. Association of three markers previously implicated in ASD susceptibility, rs2268493 (P = 0.043), rs1042778 (P = 0.037), and rs7632287 (P = 0.016), was observed. Further, these genetic markers were associated with multiple core ASD phenotypes, including social domain dysfunction, measured by standardized instruments used to diagnose and describe ASD. The data suggest association of OXTR genetic polymorphisms with ASD, although the results should be interpreted with caution because none of the significant associations would survive appropriate correction for multiple comparisons. However, the current findings of association in a large independent cohort are consistent with previous results, and the biological plausibility of participation of the oxytocin signaling system in modulating social disruptions characteristic of ASD, suggest that functional polymorphisms of OXTR may contribute to ASD risk in a subset of families. En ligne : http://dx.doi.org/10.1007/s11689-010-9071-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism / V. J. VIELAND in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.113-23 Titre : Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism Type de document : Texte imprimé et/ou numérique Auteurs : V. J. VIELAND, Auteur ; J. HALLMAYER, Auteur ; Y. HUANG, Auteur ; Alistair T. PAGNAMENTA, Auteur ; D. PINTO, Auteur ; H. KHAN, Auteur ; A. P. MONACO, Auteur ; Andrew D. PATERSON, Auteur ; Stephen SCHERER, Auteur ; J. S. SUTCLIFFE, Auteur ; P. SZATMARI, Auteur Article en page(s) : p.113-23 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well. En ligne : http://dx.doi.org/10.1007/s11689-011-9072-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism [Texte imprimé et/ou numérique] / V. J. VIELAND, Auteur ; J. HALLMAYER, Auteur ; Y. HUANG, Auteur ; Alistair T. PAGNAMENTA, Auteur ; D. PINTO, Auteur ; H. KHAN, Auteur ; A. P. MONACO, Auteur ; Andrew D. PATERSON, Auteur ; Stephen SCHERER, Auteur ; J. S. SUTCLIFFE, Auteur ; P. SZATMARI, Auteur . - p.113-23. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.113-23 Index. décimale : PER Périodiques Résumé : The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism trios genotyped on the Illumina 1 M platform. We set out to exploit this unique pair of resources by analyzing the combined data with a novel statistical method, based on the PPL statistical framework, simultaneously searching for linkage and association to loci involved in autism spectrum disorders (ASD). Our analysis also allowed for potential differences in genetic architecture for ASD in the presence or absence of lower IQ, an important clinical indicator of ASD subtypes. We found strong evidence of multiple linked loci; however, association evidence implicating specific genes was low even under the linkage peaks. Distinct loci were found in the lower IQ families, and these families showed stronger and more numerous linkage peaks, while the normal IQ group yielded the strongest association evidence. It appears that presence/absence of lower IQ (LIQ) demarcates more genetically homogeneous subgroups of ASD patients, with not just different sets of loci acting in the two groups, but possibly distinct genetic architecture between them, such that the LIQ group involves more major gene effects (amenable to linkage mapping), while the normal IQ group potentially involves more common alleles with lower penetrances. The possibility of distinct genetic architecture across subtypes of ASD has implications for further research and perhaps for research approaches to other complex disorders as well. En ligne : http://dx.doi.org/10.1007/s11689-011-9072-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 / Alistair T. PAGNAMENTA in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.124-31 Titre : A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 Type de document : Texte imprimé et/ou numérique Auteurs : Alistair T. PAGNAMENTA, Auteur ; R. HOLT, Auteur ; M. YUSUF, Auteur ; D. PINTO, Auteur ; K. WING, Auteur ; Catalina BETANCUR, Auteur ; Stephen SCHERER, Auteur ; E. V. VOLPI, Auteur ; A. P. MONACO, Auteur Article en page(s) : p.124-31 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, play a significant role in the genetic aetiology of this condition. In this study, we describe the phenotypic and genomic characterisation of a multiplex autism family from the AGP study that was found to harbour a duplication of exons 31-44 of the Duchenne/Becker muscular dystrophy gene DMD and also a rare deletion involving exons 1-9 of TRPM3. Further characterisation of these extremely rare CNVs was carried out using quantitative PCR, fluorescent in situ hybridisation, long-range PCR amplification and sequencing of junction fragments. The maternal chrX:32,097,213-32,321,945 tandem duplication and paternal chr9:72,480,413-73,064,196 deletion (NCBI build 36 coordinates) were transmitted to both affected boys, potentially signifying a multi-hit mechanism. The DMD reading frame rule predicts a Becker phenotype, characterised by later onset and milder symptoms. When last evaluated, neither child had developed signs of muscular dystrophy. These data are consistent with a degree of comorbidity between autism and muscular dystrophy and suggest that genomic background as well as the position of the mutation within the DMD gene may impact on the neurological correlates of Duchenne/Becker muscular dystrophy. Finally, communicating unexpected findings such as these back to families raises a number of ethical questions, which are discussed. En ligne : http://dx.doi.org/10.1007/s11689-011-9076-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 [Texte imprimé et/ou numérique] / Alistair T. PAGNAMENTA, Auteur ; R. HOLT, Auteur ; M. YUSUF, Auteur ; D. PINTO, Auteur ; K. WING, Auteur ; Catalina BETANCUR, Auteur ; Stephen SCHERER, Auteur ; E. V. VOLPI, Auteur ; A. P. MONACO, Auteur . - p.124-31. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.124-31 Index. décimale : PER Périodiques Résumé : Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number variants (CNVs), possibly acting in tandem, play a significant role in the genetic aetiology of this condition. In this study, we describe the phenotypic and genomic characterisation of a multiplex autism family from the AGP study that was found to harbour a duplication of exons 31-44 of the Duchenne/Becker muscular dystrophy gene DMD and also a rare deletion involving exons 1-9 of TRPM3. Further characterisation of these extremely rare CNVs was carried out using quantitative PCR, fluorescent in situ hybridisation, long-range PCR amplification and sequencing of junction fragments. The maternal chrX:32,097,213-32,321,945 tandem duplication and paternal chr9:72,480,413-73,064,196 deletion (NCBI build 36 coordinates) were transmitted to both affected boys, potentially signifying a multi-hit mechanism. The DMD reading frame rule predicts a Becker phenotype, characterised by later onset and milder symptoms. When last evaluated, neither child had developed signs of muscular dystrophy. These data are consistent with a degree of comorbidity between autism and muscular dystrophy and suggest that genomic background as well as the position of the mutation within the DMD gene may impact on the neurological correlates of Duchenne/Becker muscular dystrophy. Finally, communicating unexpected findings such as these back to families raises a number of ethical questions, which are discussed. En ligne : http://dx.doi.org/10.1007/s11689-011-9076-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Glutathione pathway gene variation and risk of autism spectrum disorders / K. BOWERS in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.132-43 Titre : Glutathione pathway gene variation and risk of autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : K. BOWERS, Auteur ; Q. LI, Auteur ; Jan BRESSLER, Auteur ; D. AVRAMOPOULOS, Auteur ; C. NEWSCHAFFER, Auteur ; M. D. FALLIN, Auteur Article en page(s) : p.132-43 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Despite evidence that autism is highly heritable with estimates of 15 or more genes involved, few studies have directly examined associations of multiple gene interactions. Since inability to effectively combat oxidative stress has been suggested as a mechanism of autism, we examined genetic variation 42 genes (308 single-nucleotide polymorphisms (SNPs)) related to glutathione, the most important antioxidant in the brain, for both marginal association and multi-gene interaction among 318 case-parent trios from The Autism Genetic Resource Exchange. Models of multi-SNP interactions were estimated using the trio Logic Regression method. A three-SNP joint effect was observed for genotype combinations of SNPs in glutaredoxin, glutaredoxin 3 (GLRX3), and cystathione gamma lyase (CTH); OR = 3.78, 95% CI: 2.36, 6.04. Marginal associations were observed for four genes including two involved in the three-way interaction: CTH, alcohol dehydrogenase 5, gamma-glutamylcysteine synthetase, catalytic subunit and GLRX3. These results suggest that variation in genes involved in counterbalancing oxidative stress may contribute to autism, though replication is necessary. En ligne : http://dx.doi.org/10.1007/s11689-011-9077-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Glutathione pathway gene variation and risk of autism spectrum disorders [Texte imprimé et/ou numérique] / K. BOWERS, Auteur ; Q. LI, Auteur ; Jan BRESSLER, Auteur ; D. AVRAMOPOULOS, Auteur ; C. NEWSCHAFFER, Auteur ; M. D. FALLIN, Auteur . - p.132-43. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.132-43 Index. décimale : PER Périodiques Résumé : Despite evidence that autism is highly heritable with estimates of 15 or more genes involved, few studies have directly examined associations of multiple gene interactions. Since inability to effectively combat oxidative stress has been suggested as a mechanism of autism, we examined genetic variation 42 genes (308 single-nucleotide polymorphisms (SNPs)) related to glutathione, the most important antioxidant in the brain, for both marginal association and multi-gene interaction among 318 case-parent trios from The Autism Genetic Resource Exchange. Models of multi-SNP interactions were estimated using the trio Logic Regression method. A three-SNP joint effect was observed for genotype combinations of SNPs in glutaredoxin, glutaredoxin 3 (GLRX3), and cystathione gamma lyase (CTH); OR = 3.78, 95% CI: 2.36, 6.04. Marginal associations were observed for four genes including two involved in the three-way interaction: CTH, alcohol dehydrogenase 5, gamma-glutamylcysteine synthetase, catalytic subunit and GLRX3. These results suggest that variation in genes involved in counterbalancing oxidative stress may contribute to autism, though replication is necessary. En ligne : http://dx.doi.org/10.1007/s11689-011-9077-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Salivary biomarkers of HPA axis and autonomic activity in adults with intellectual disability with and without stereotyped and self-injurious behavior disorders / F. J. SYMONS in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.144-51 Titre : Salivary biomarkers of HPA axis and autonomic activity in adults with intellectual disability with and without stereotyped and self-injurious behavior disorders Type de document : Texte imprimé et/ou numérique Auteurs : F. J. SYMONS, Auteur ; J. J. WOLFF, Auteur ; L. S. STONE, Auteur ; T. K. LIM, Auteur ; James W. BODFISH, Auteur Article en page(s) : p.144-51 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Salivary levels of biomarkers for the hypothalamic-pituitary-adrenal axis (HPA; cortisol) and sympatho-adreno-medullary system (SAM; alpha-amylase) were measured in 51 adults (57% male) with neurodevelopmental disorders associated with intellectual disability (i.e., mental retardation) and chronic self-injurious behavior (SIB) and compared with matched controls without SIB. Cortisol levels differed significantly (p < 0.01) between the SIB and control group (SIB > control). Within-group analyses showed significant differences (p < 0.05) in levels of salivary alpha-amylase between individuals with SIB and those with SIB meeting criteria for stereotyped movement disorder (SMD; SIB + SMD > SIB). Salivary alpha-amylase was significantly correlated with frequency of stereotypy among the SIB group (r = 0.36, p < 0.05). These preliminary findings warrant further exploration into the role of the SAM system in the pathophysiology of SIB and related repetitive behaviors among individuals with neurodevelopmental disorders associated with intellectual disability. En ligne : http://dx.doi.org/10.1007/s11689-011-9080-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Salivary biomarkers of HPA axis and autonomic activity in adults with intellectual disability with and without stereotyped and self-injurious behavior disorders [Texte imprimé et/ou numérique] / F. J. SYMONS, Auteur ; J. J. WOLFF, Auteur ; L. S. STONE, Auteur ; T. K. LIM, Auteur ; James W. BODFISH, Auteur . - p.144-51. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.144-51 Index. décimale : PER Périodiques Résumé : Salivary levels of biomarkers for the hypothalamic-pituitary-adrenal axis (HPA; cortisol) and sympatho-adreno-medullary system (SAM; alpha-amylase) were measured in 51 adults (57% male) with neurodevelopmental disorders associated with intellectual disability (i.e., mental retardation) and chronic self-injurious behavior (SIB) and compared with matched controls without SIB. Cortisol levels differed significantly (p < 0.01) between the SIB and control group (SIB > control). Within-group analyses showed significant differences (p < 0.05) in levels of salivary alpha-amylase between individuals with SIB and those with SIB meeting criteria for stereotyped movement disorder (SMD; SIB + SMD > SIB). Salivary alpha-amylase was significantly correlated with frequency of stereotypy among the SIB group (r = 0.36, p < 0.05). These preliminary findings warrant further exploration into the role of the SAM system in the pathophysiology of SIB and related repetitive behaviors among individuals with neurodevelopmental disorders associated with intellectual disability. En ligne : http://dx.doi.org/10.1007/s11689-011-9080-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? / Linda E. CAMPBELL in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.152-61 Titre : Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? Type de document : Texte imprimé et/ou numérique Auteurs : Linda E. CAMPBELL, Auteur ; A. F. STEVENS, Auteur ; K. MCCABE, Auteur ; L. CRUICKSHANK, Auteur ; R. G. MORRIS, Auteur ; D. G. MURPHY, Auteur ; K. C. MURPHY, Auteur Article en page(s) : p.152-61 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor social competence and are also at a particularly high risk of developing mood (40%) and psychotic (up to 30%) disorders in adolescence and young adulthood. However, it is unknown if these problems are associated with theory of mind skills, including underlying social-cognitive and social-perceptual mechanisms. The present cross-sectional study included classic social-cognitive false-belief and mentalising tasks and social-perceptual face processing tasks. The performance of 50 children with 22q11DS was compared with 31 age-matched typically developing sibling controls. Key findings indicated that, while younger children with 22q11DS showed impaired acquisition of social-cognitive skills, older children with 22q11DS were not significantly impaired compared with sibling controls. However, children with 22q11DS were found to have social-perceptual deficits, as demonstrated by difficulties in matching faces on the basis of identity, emotion, facial speech and gaze compared with sibling controls. Furthermore, performance on the tasks was associated with age, language ability and parentally rated social competence and emotional problems. These results are discussed in relation to the importance of a better delineation of social competence in this population. En ligne : http://dx.doi.org/10.1007/s11689-011-9082-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)? [Texte imprimé et/ou numérique] / Linda E. CAMPBELL, Auteur ; A. F. STEVENS, Auteur ; K. MCCABE, Auteur ; L. CRUICKSHANK, Auteur ; R. G. MORRIS, Auteur ; D. G. MURPHY, Auteur ; K. C. MURPHY, Auteur . - p.152-61. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.152-61 Index. décimale : PER Périodiques Résumé : Social dysfunction is intrinsically involved in severe psychiatric disorders such as depression and psychosis and linked with poor theory of mind. Children with 22q11.2 deletion syndrome (22q11DS, or velo-cardio-facial syndrome) have poor social competence and are also at a particularly high risk of developing mood (40%) and psychotic (up to 30%) disorders in adolescence and young adulthood. However, it is unknown if these problems are associated with theory of mind skills, including underlying social-cognitive and social-perceptual mechanisms. The present cross-sectional study included classic social-cognitive false-belief and mentalising tasks and social-perceptual face processing tasks. The performance of 50 children with 22q11DS was compared with 31 age-matched typically developing sibling controls. Key findings indicated that, while younger children with 22q11DS showed impaired acquisition of social-cognitive skills, older children with 22q11DS were not significantly impaired compared with sibling controls. However, children with 22q11DS were found to have social-perceptual deficits, as demonstrated by difficulties in matching faces on the basis of identity, emotion, facial speech and gaze compared with sibling controls. Furthermore, performance on the tasks was associated with age, language ability and parentally rated social competence and emotional problems. These results are discussed in relation to the importance of a better delineation of social competence in this population. En ligne : http://dx.doi.org/10.1007/s11689-011-9082-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Synaptic Wnt signaling-a contributor to major psychiatric disorders? / N. D. OKERLUND in Journal of Neurodevelopmental Disorders, 3-2 (June 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.162-74 Titre : Synaptic Wnt signaling-a contributor to major psychiatric disorders? Type de document : Texte imprimé et/ou numérique Auteurs : N. D. OKERLUND, Auteur ; B. N. CHEYETTE, Auteur Article en page(s) : p.162-74 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Wnt signaling is a key pathway that helps organize development of the nervous system. It influences cell proliferation, cell fate, and cell migration in the developing nervous system, as well as axon guidance, dendrite development, and synapse formation. Given this wide range of roles, dysregulation of Wnt signaling could have any number of deleterious effects on neural development and thereby contribute in many different ways to the pathogenesis of neurodevelopmental disorders. Some major psychiatric disorders, including schizophrenia, bipolar disorder, and autism spectrum disorders, are coming to be understood as subtle dysregulations of nervous system development, particularly of synapse formation and maintenance. This review will therefore touch on the importance of Wnt signaling to neurodevelopment generally, while focusing on accumulating evidence for a synaptic role of Wnt signaling. These observations will be discussed in the context of current understanding of the neurodevelopmental bases of major psychiatric diseases, spotlighting schizophrenia, bipolar disorder, and autism spectrum disorder. In short, this review will focus on the potential role of synapse formation and maintenance in major psychiatric disorders and summarize evidence that defective Wnt signaling could contribute to their pathogenesis via effects on these late neural differentiation processes. En ligne : http://dx.doi.org/10.1007/s11689-011-9083-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Synaptic Wnt signaling-a contributor to major psychiatric disorders? [Texte imprimé et/ou numérique] / N. D. OKERLUND, Auteur ; B. N. CHEYETTE, Auteur . - p.162-74. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-2 (June 2011) . - p.162-74 Index. décimale : PER Périodiques Résumé : Wnt signaling is a key pathway that helps organize development of the nervous system. It influences cell proliferation, cell fate, and cell migration in the developing nervous system, as well as axon guidance, dendrite development, and synapse formation. Given this wide range of roles, dysregulation of Wnt signaling could have any number of deleterious effects on neural development and thereby contribute in many different ways to the pathogenesis of neurodevelopmental disorders. Some major psychiatric disorders, including schizophrenia, bipolar disorder, and autism spectrum disorders, are coming to be understood as subtle dysregulations of nervous system development, particularly of synapse formation and maintenance. This review will therefore touch on the importance of Wnt signaling to neurodevelopment generally, while focusing on accumulating evidence for a synaptic role of Wnt signaling. These observations will be discussed in the context of current understanding of the neurodevelopmental bases of major psychiatric diseases, spotlighting schizophrenia, bipolar disorder, and autism spectrum disorder. In short, this review will focus on the potential role of synapse formation and maintenance in major psychiatric disorders and summarize evidence that defective Wnt signaling could contribute to their pathogenesis via effects on these late neural differentiation processes. En ligne : http://dx.doi.org/10.1007/s11689-011-9083-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343