226 recherche sur le mot-clé 'genetic-polymorphisms'

5-HTTLPR moderates the effect of relational peer victimization on depressive symptoms in adolescent girls / Corina BENJET in Journal of Child Psychology and Psychiatry, 51-2 (February 2010)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 51-2 (February 2010) . - p.173-179 Titre : 5-HTTLPR moderates the effect of relational peer victimization on depressive symptoms in adolescent girls Type de document : texte imprimé Auteurs : Corina BENJET, Auteur ; Renee THOMPSON, Auteur ; Ian H. GOTLIB, Auteur Année de publication : 2010 Article en page(s) : p.173-179 Langues : Anglais (eng) Mots-clés : Peer-victimization bullying depression genetic-polymorphisms 5-HTTLPR Index. décimale : PER Périodiques Résumé : Background: Relational peer victimization is associated with internalizing symptoms. Compared to boys, girls are more likely to be both relationally victimized by peers and distressed by the victimization. While previous studies have reported that a functional polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) moderates the effect of stressful life events on depressive symptoms, the present study is the first to evaluate the interaction of this polymorphism with relational peer victimization to predict level of depressive symptoms in young girls. Methods: Participants were 78 girls ages 10 to 14 who had no current or past Axis I disorder. Girls were genotyped for 5-HTTLPR; peer victimization was assessed with the Social Experiences Questionnaire, and depressive symptoms with the Children's Depression Inventory. Results: The 5-HTTLPR polymorphism alone did not predict level of depressive symptoms; the interaction of 5-HTTLPR and relational peer victimization, however, was a significant predictor of depressive symptoms. Follow-up analyses indicated that peer victimization significantly predicted level of depressive symptoms only for girls who were homozygous for the short allele, and not for girls homozygous for the long allele or who were heterozygous for the short and long alleles. Conclusions: The findings support the diathesis-stress model of depression: having two 5-HTTLPR short alleles confers vulnerability to depressive symptoms in adolescent girls when they experience relational peer victimization. These findings also suggest that relational peer victimization, at least for girls with genetic vulnerability, is a significant source of stress and should be recognized in the monitoring and prevention of bullying. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02149.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=941 [article] 5-HTTLPR moderates the effect of relational peer victimization on depressive symptoms in adolescent girls [texte imprimé] / Corina BENJET, Auteur ; Renee THOMPSON, Auteur ; Ian H. GOTLIB, Auteur . - 2010 . - p.173-179. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 51-2 (February 2010) . - p.173-179 Mots-clés : Peer-victimization bullying depression genetic-polymorphisms 5-HTTLPR Index. décimale : PER Périodiques Résumé : Background: Relational peer victimization is associated with internalizing symptoms. Compared to boys, girls are more likely to be both relationally victimized by peers and distressed by the victimization. While previous studies have reported that a functional polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) moderates the effect of stressful life events on depressive symptoms, the present study is the first to evaluate the interaction of this polymorphism with relational peer victimization to predict level of depressive symptoms in young girls. Methods: Participants were 78 girls ages 10 to 14 who had no current or past Axis I disorder. Girls were genotyped for 5-HTTLPR; peer victimization was assessed with the Social Experiences Questionnaire, and depressive symptoms with the Children's Depression Inventory. Results: The 5-HTTLPR polymorphism alone did not predict level of depressive symptoms; the interaction of 5-HTTLPR and relational peer victimization, however, was a significant predictor of depressive symptoms. Follow-up analyses indicated that peer victimization significantly predicted level of depressive symptoms only for girls who were homozygous for the short allele, and not for girls homozygous for the long allele or who were heterozygous for the short and long alleles. Conclusions: The findings support the diathesis-stress model of depression: having two 5-HTTLPR short alleles confers vulnerability to depressive symptoms in adolescent girls when they experience relational peer victimization. These findings also suggest that relational peer victimization, at least for girls with genetic vulnerability, is a significant source of stress and should be recognized in the monitoring and prevention of bullying. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2009.02149.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=941

The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder / Federica CARDUCCI in Autism Research, 15-2 (February 2022)  

Public ISBD [article]  inAutism Research > 15-2 (February 2022) . - p.215-221 Titre : The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder Type de document : texte imprimé Auteurs : Federica CARDUCCI, Auteur ; Chiara ARDICCIONI, Auteur ; Rosamaria FIORINI, Auteur ; Arianna VIGNINI, Auteur ; Alice DI PAOLO, Auteur ; Sonila ALIA, Auteur ; Marco BARUCCA, Auteur ; Maria Assunta BISCOTTI, Auteur Article en page(s) : p.215-221 Langues : Anglais (eng) Mots-clés : Asd  GPx1 genetic screening  GPx1 in vitro protein production  GPx1 polymorphisms  GPx1 protein activity  autism spectrum disorder  glutathione peroxidase 1 Index. décimale : PER Périodiques Résumé : Autism is a severe neurodevelopmental disorder leading to deficits in social interaction, communication, and several activities. An increasing number of evidence suggests a role of oxidative stress in the etiology of autism spectrum disorder (ASD). Indeed, impaired antioxidant mechanisms may lead to the inadequate removal of H(2) O(2) with a consequent increase in highly active hydroxyl radicals and other reactive oxygen species causing cellular damages. The GPx1 is one of the most important enzymes counteracting oxidative stress. In this work, we investigated a possible correlation between the GCG repeat polymorphism present in the first exon of GPx1 gene encoding a tract of five to seven alanine residues (ALA5, ALA6, and ALA7) and ASD. Our findings highlighted a high frequency of ALA5 allele in ASD subjects. Moreover, proteins corresponding to the three GPx1 variants were produced in vitro, and the evaluation of their activity showed a lower values for GPx1 having ALA5 polymorphism. The comparison of the secondary and tertiary structure predictions revealed an alpha-helix in correspondence of alanine stretch only in the case of GPx1-ALA7 variant. Finally, to better investigate protein structure, steady-state fluorescence measurements of GPx1 intrinsic tryptophan were carried out and the three tested proteins exhibited a different stability under denaturing conditions. This work demonstrates the importance in adopting a multidisciplinary strategy to comprehend the role of GPx1 in ASD. LAY SUMMARY: Results here obtained suggest a possible role of ALA5 GPx1 variant in ASD. However, given the multifactorial nature of autism, this evidence might be a piece of a more complex puzzle being the GPx1 enzyme part of a complex pathway in which several proteins are involved. En ligne : http://dx.doi.org/10.1002/aur.2655 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] The ALA5/ALA6/ALA7 repeat polymorphisms of the glutathione peroxidase-1 (GPx1) gene and autism spectrum disorder [texte imprimé] / Federica CARDUCCI, Auteur ; Chiara ARDICCIONI, Auteur ; Rosamaria FIORINI, Auteur ; Arianna VIGNINI, Auteur ; Alice DI PAOLO, Auteur ; Sonila ALIA, Auteur ; Marco BARUCCA, Auteur ; Maria Assunta BISCOTTI, Auteur . - p.215-221. Langues : Anglais (eng) in Autism Research > 15-2 (February 2022) . - p.215-221 Mots-clés : Asd  GPx1 genetic screening  GPx1 in vitro protein production  GPx1 polymorphisms  GPx1 protein activity  autism spectrum disorder  glutathione peroxidase 1 Index. décimale : PER Périodiques Résumé : Autism is a severe neurodevelopmental disorder leading to deficits in social interaction, communication, and several activities. An increasing number of evidence suggests a role of oxidative stress in the etiology of autism spectrum disorder (ASD). Indeed, impaired antioxidant mechanisms may lead to the inadequate removal of H(2) O(2) with a consequent increase in highly active hydroxyl radicals and other reactive oxygen species causing cellular damages. The GPx1 is one of the most important enzymes counteracting oxidative stress. In this work, we investigated a possible correlation between the GCG repeat polymorphism present in the first exon of GPx1 gene encoding a tract of five to seven alanine residues (ALA5, ALA6, and ALA7) and ASD. Our findings highlighted a high frequency of ALA5 allele in ASD subjects. Moreover, proteins corresponding to the three GPx1 variants were produced in vitro, and the evaluation of their activity showed a lower values for GPx1 having ALA5 polymorphism. The comparison of the secondary and tertiary structure predictions revealed an alpha-helix in correspondence of alanine stretch only in the case of GPx1-ALA7 variant. Finally, to better investigate protein structure, steady-state fluorescence measurements of GPx1 intrinsic tryptophan were carried out and the three tested proteins exhibited a different stability under denaturing conditions. This work demonstrates the importance in adopting a multidisciplinary strategy to comprehend the role of GPx1 in ASD. LAY SUMMARY: Results here obtained suggest a possible role of ALA5 GPx1 variant in ASD. However, given the multifactorial nature of autism, this evidence might be a piece of a more complex puzzle being the GPx1 enzyme part of a complex pathway in which several proteins are involved. En ligne : http://dx.doi.org/10.1002/aur.2655 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening / Tara L. WENGER in Molecular Autism, 7 (2016)  

Public ISBD [article]  inMolecular Autism > 7 (2016) . - 27p. Titre : 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening Type de document : texte imprimé Auteurs : Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329 [article] 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening [texte imprimé] / Tara L. WENGER, Auteur ; Judith S. MILLER, Auteur ; Lauren M. DEPOLO, Auteur ; Ashley B. DE MARCHENA, Auteur ; Caitlin C. CLEMENTS, Auteur ; Beverly S. EMANUEL, Auteur ; Elaine H. ZACKAI, Auteur ; Donna M. MCDONALD-MCGINN, Auteur ; Robert T. SCHULTZ, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 7 (2016) . - 27p. Mots-clés : Abnormalities, Multiple/diagnosis  Adolescent  Adult  Analysis of Variance  Autism Spectrum Disorder/complications/diagnosis/epidemiology  Child  Child, Preschool  Chromosome Duplication  Chromosomes, Human, Pair 22  DiGeorge Syndrome/complications/diagnosis  Female  Genetic Testing  Humans  Male  Middle Aged  Social Behavior  Surveys and Questionnaires  Young Adult  22q11.2 deletion syndrome  22q11.2 duplication syndrome  Autism spectrum disorder  Developmental delay  Medical characterization  Medical screening  Neuropsychiatric functioning  Syndromic autism  Typically developing controls Index. décimale : PER Périodiques Résumé : BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS. METHODS: Medical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. RESULTS: Individuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38% of children aged 2-18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14-25%) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected. CONCLUSIONS: 22q11.2DupS has a high rate of ASD at 14-25%, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone. En ligne : http://dx.doi.org/10.1186/s13229-016-0090-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=329

Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions / Michelle D. CARTER in Autism Research, 4-1 (February 2011)  

Public ISBD [article]  inAutism Research > 4-1 (February 2011) . - p.57-67 Titre : Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions Type de document : texte imprimé Auteurs : Michelle D. CARTER, Auteur ; Charisma R. SHAH, Auteur ; Christopher L. MULLER, Auteur ; Jacqueline N. CRAWLEY, Auteur ; Ana M.D. CARNEIRO, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2011 Article en page(s) : p.57-67 Langues : Anglais (eng) Mots-clés : autism  genetic  integrin  cell adhesion  serotonin  social memory  grooming  obsessive–compulsive disorder Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin 5-HT, or hyperserotonemia, is a common biomarker in autism spectrum disorder (ASD). The integrin β3 receptor subunit gene (ITGB3) is a quantitative trait locus for whole blood 5-HT levels. Recent work shows that integrin β3 interacts with the serotonin transporter (SERT) in both platelets and in the midbrain. Furthermore, multiple studies have now reported gene–gene interaction between the integrin β3 and SERT genes in association with ASD. Given the lack of previous data on the impact of integrin β3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin β3 receptor subunit (Itgb3 + / − and −/ −) with wildtype littermate controls in behavioral tasks relevant to ASD. These mice did not show deficits in activity level in the open field or anxiety-like behavior on the elevated plus maze, two potential confounds in the evaluation of mouse social behavior. In the three-chamber social test, mice lacking integrin β3 were shown to have normal sociability but did not show a preference for social novelty. Importantly, the absence of integrin β3 did not impair olfaction or the ability to recall familiar social odors. Additionally, mice lacking integrin β3 showed increased grooming behavior in novel environments. These preliminary studies reveal altered social and repetitive behavior in these mice, which suggests that the integrin β3 subunit may be involved in brain systems relevant to ASD. Further work is needed to fully characterize these behavioral changes and the underlying brain mechanisms. En ligne : http://dx.doi.org/10.1002/aur.180 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118 [article] Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: Initial studies and future directions [texte imprimé] / Michelle D. CARTER, Auteur ; Charisma R. SHAH, Auteur ; Christopher L. MULLER, Auteur ; Jacqueline N. CRAWLEY, Auteur ; Ana M.D. CARNEIRO, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2011 . - p.57-67. Langues : Anglais (eng) in Autism Research > 4-1 (February 2011) . - p.57-67 Mots-clés : autism  genetic  integrin  cell adhesion  serotonin  social memory  grooming  obsessive–compulsive disorder Index. décimale : PER Périodiques Résumé : Elevated whole blood serotonin 5-HT, or hyperserotonemia, is a common biomarker in autism spectrum disorder (ASD). The integrin β3 receptor subunit gene (ITGB3) is a quantitative trait locus for whole blood 5-HT levels. Recent work shows that integrin β3 interacts with the serotonin transporter (SERT) in both platelets and in the midbrain. Furthermore, multiple studies have now reported gene–gene interaction between the integrin β3 and SERT genes in association with ASD. Given the lack of previous data on the impact of integrin β3 on brain or behavioral phenotypes, we sought to compare mice with decreased or absent expression of the integrin β3 receptor subunit (Itgb3 + / − and −/ −) with wildtype littermate controls in behavioral tasks relevant to ASD. These mice did not show deficits in activity level in the open field or anxiety-like behavior on the elevated plus maze, two potential confounds in the evaluation of mouse social behavior. In the three-chamber social test, mice lacking integrin β3 were shown to have normal sociability but did not show a preference for social novelty. Importantly, the absence of integrin β3 did not impair olfaction or the ability to recall familiar social odors. Additionally, mice lacking integrin β3 showed increased grooming behavior in novel environments. These preliminary studies reveal altered social and repetitive behavior in these mice, which suggests that the integrin β3 subunit may be involved in brain systems relevant to ASD. Further work is needed to fully characterize these behavioral changes and the underlying brain mechanisms. En ligne : http://dx.doi.org/10.1002/aur.180 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=118

Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? / Zachary WARREN in Autism Research, 5-1 (February 2012)  

Public ISBD [article]  inAutism Research > 5-1 (February 2012) . - p.31-38 Titre : Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? Type de document : texte imprimé Auteurs : Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Année de publication : 2012 Article en page(s) : p.31-38 Langues : Anglais (eng) Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] Accuracy of phenotyping children with autism based on parent report: what specifically do we gain phenotyping “rapidly”? [texte imprimé] / Zachary WARREN, Auteur ; Alison VEHORN, Auteur ; Elizabeth DOHRMANN, Auteur ; Amy NICHOLSON, Auteur ; James S. SUTCLIFFE, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - 2012 . - p.31-38. Langues : Anglais (eng) in Autism Research > 5-1 (February 2012) . - p.31-38 Mots-clés : Autism  ASD  genetic studies  rapid phenotyping Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) is considered among the most heritable of all neurodevelopmental and psychiatric disorders, but identification of etiologically significant genetic markers and risk variants has been hampered by a lack of sufficiently large samples. Rapid phenotyping procedures, where self-report measures are used instead of extensive clinical assessment, have been proposed as methods for amassing large genetic databases due to their hypothesized time-efficiency and affordability. We assessed the diagnostic accuracy of potential rapid phenotyping procedures using the Social Communication Questionnaire and the Social Responsiveness Scale in a sample of 333 children who also received extensive phenotypic assessments. While the rapid phenotyping measures were able to accurately identify a large number of children with ASD, they also frequently failed to differentiate children with ASD from children with other complex neurobehavioral profiles. These data support the continued need of expert clinical validation in combination with rapid phenotyping procedures in order to accurately amass large-scale genetic collections of children with ASD. En ligne : http://dx.doi.org/10.1002/aur.230 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest? / Caroline DEMILY in Journal of Autism and Developmental Disorders, 48-8 (August 2018)  

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An atlas of genetic correlations between gestational age and common psychiatric disorders / Yao YAO in Autism Research, 15-6 (June 2022)  

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An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure / Jane SUMMERS in Journal of Neurodevelopmental Disorders, 16 (2024)  

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Anxiety Disorders in Williams Syndrome Contrasted with Intellectual Disability and the General Population: A Systematic Review and Meta-Analysis / R. ROYSTON in Journal of Autism and Developmental Disorders, 47-12 (December 2017)  

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Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders / Eleonora NAPOLI in Journal of Autism and Developmental Disorders, 48-2 (February 2018)  

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