10 recherche sur le mot-clé 'Genotype'

Altered medial prefrontal cortex and dorsal raphé activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism-associated 2p16.3 deletion / Rebecca B. HUGHES in Autism Research, 15-4 (April 2022)  

Public ISBD [article]  inAutism Research > 15-4 (April 2022) . - p.614-627 Titre : Altered medial prefrontal cortex and dorsal raphé activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism-associated 2p16.3 deletion Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca B. HUGHES, Auteur ; Jayde WHITTINGHAM-DOWD, Auteur ; Steven J. CLAPCOTE, Auteur ; Susan J. BROUGHTON, Auteur ; Neil DAWSON, Auteur Article en page(s) : p.614-627 Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder/genetics  Autistic Disorder  Disease Models, Animal  Dorsal Raphe Nucleus  Genotype  Humans  Male  Mice  Prefrontal Cortex/diagnostic imaging  Reversal Learning  cognitive neuroscience  copy number variation/copy number variants  frontal lobe  genotype-phenotype correlation  imaging genetics  mouse models  serotonin Index. décimale : PER Périodiques Résumé : 2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developing autism and other neurodevelopmental disorders. We have a poor understanding of how NRXN1 heterozygosity impacts on brain function and cognition to increase the risk of developing the disorder. Here we characterize the impact of Nrxn1? heterozygosity on cerebral metabolism, in mice, using (14) C-2-deoxyglucose imaging. We also assess performance in an olfactory-based discrimination and reversal learning (OB-DaRL) task and locomotor activity. We use decision tree classifiers to test the predictive relationship between cerebral metabolism and Nrxn1? genotype. Our data show that Nrxn1? heterozygosity induces prefrontal cortex (medial prelimbic cortex, mPrL) hypometabolism and a contrasting dorsal raphé nucleus (DRN) hypermetabolism. Metabolism in these regions allows for the predictive classification of Nrxn1? genotype. Consistent with reduced mPrL glucose utilization, prefrontal cortex insulin receptor signaling is decreased in Nrxn1?(+/-) mice. Behaviorally, Nrxn1?(+/-) mice show enhanced learning of a novel discrimination, impaired reversal learning and an increased latency to make correct choices. In addition, male Nrxn1?(+/-) mice show hyperlocomotor activity. Correlative analysis suggests that mPrL hypometabolism contributes to the enhanced novel odor discrimination seen in Nrxn1?(+/-) mice, while DRN hypermetabolism contributes to their increased latency in making correct choices. The data show that Nrxn1? heterozygosity impacts on prefrontal cortex and serotonin system function, which contribute to the cognitive alterations seen in these animals. The data suggest that Nrxn1?(+/-) mice provide a translational model for the cognitive and behavioral alterations seen in autism and other neurodevelopmental disorders associated with 2p16.3 deletion. LAY SUMMARY: Deletion of the chromosomal region 2p16.3, involving reduced NEUREXIN1 gene expression, dramatically increases the risk of developing autism. Here, we show that reduced Neurexin1? expression, in mice, impacts on the prefrontal cortex and impairs cognitive flexibility. The data suggest that 2p16.3 deletion increases the risk of developing autism by impacting on the prefrontal cortex. Mice with the deletion are a useful model for testing new drugs to treat the cognitive flexibility problems experienced by people with autism. En ligne : https://dx.doi.org/10.1002/aur.2685 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Altered medial prefrontal cortex and dorsal raphé activity predict genotype and correlate with abnormal learning behavior in a mouse model of autism-associated 2p16.3 deletion [Texte imprimé et/ou numérique] / Rebecca B. HUGHES, Auteur ; Jayde WHITTINGHAM-DOWD, Auteur ; Steven J. CLAPCOTE, Auteur ; Susan J. BROUGHTON, Auteur ; Neil DAWSON, Auteur . - p.614-627. Langues : Anglais (eng) in Autism Research > 15-4 (April 2022) . - p.614-627 Mots-clés : Animals  Autism Spectrum Disorder/genetics  Autistic Disorder  Disease Models, Animal  Dorsal Raphe Nucleus  Genotype  Humans  Male  Mice  Prefrontal Cortex/diagnostic imaging  Reversal Learning  cognitive neuroscience  copy number variation/copy number variants  frontal lobe  genotype-phenotype correlation  imaging genetics  mouse models  serotonin Index. décimale : PER Périodiques Résumé : 2p16.3 deletion, involving NEUREXIN1 (NRXN1) heterozygous deletion, substantially increases the risk of developing autism and other neurodevelopmental disorders. We have a poor understanding of how NRXN1 heterozygosity impacts on brain function and cognition to increase the risk of developing the disorder. Here we characterize the impact of Nrxn1? heterozygosity on cerebral metabolism, in mice, using (14) C-2-deoxyglucose imaging. We also assess performance in an olfactory-based discrimination and reversal learning (OB-DaRL) task and locomotor activity. We use decision tree classifiers to test the predictive relationship between cerebral metabolism and Nrxn1? genotype. Our data show that Nrxn1? heterozygosity induces prefrontal cortex (medial prelimbic cortex, mPrL) hypometabolism and a contrasting dorsal raphé nucleus (DRN) hypermetabolism. Metabolism in these regions allows for the predictive classification of Nrxn1? genotype. Consistent with reduced mPrL glucose utilization, prefrontal cortex insulin receptor signaling is decreased in Nrxn1?(+/-) mice. Behaviorally, Nrxn1?(+/-) mice show enhanced learning of a novel discrimination, impaired reversal learning and an increased latency to make correct choices. In addition, male Nrxn1?(+/-) mice show hyperlocomotor activity. Correlative analysis suggests that mPrL hypometabolism contributes to the enhanced novel odor discrimination seen in Nrxn1?(+/-) mice, while DRN hypermetabolism contributes to their increased latency in making correct choices. The data show that Nrxn1? heterozygosity impacts on prefrontal cortex and serotonin system function, which contribute to the cognitive alterations seen in these animals. The data suggest that Nrxn1?(+/-) mice provide a translational model for the cognitive and behavioral alterations seen in autism and other neurodevelopmental disorders associated with 2p16.3 deletion. LAY SUMMARY: Deletion of the chromosomal region 2p16.3, involving reduced NEUREXIN1 gene expression, dramatically increases the risk of developing autism. Here, we show that reduced Neurexin1? expression, in mice, impacts on the prefrontal cortex and impairs cognitive flexibility. The data suggest that 2p16.3 deletion increases the risk of developing autism by impacting on the prefrontal cortex. Mice with the deletion are a useful model for testing new drugs to treat the cognitive flexibility problems experienced by people with autism. En ligne : https://dx.doi.org/10.1002/aur.2685 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation / Paola Francesca AJMONE in Journal of Autism and Developmental Disorders, 52-11 (November 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4763-4773 Titre : Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation Type de document : Texte imprimé et/ou numérique Auteurs : Paola Francesca AJMONE, Auteur ; Beatrice ALLEGRI, Auteur ; Anna CEREDA, Auteur ; Giovanni MICHELINI, Auteur ; Francesca DALL'ARA, Auteur ; Milena MARIANI, Auteur ; Claudia RIGAMONTI, Auteur ; Angelo SELICORNI, Auteur ; Paola VIZZIELLO, Auteur ; Maria Antonella COSTANTINO, Auteur Article en page(s) : p.4763-4773 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Cell Cycle Proteins/genetics  De Lange Syndrome/diagnosis  Genotype  Humans  Phenotype  CdLS  Genotype-phenotype correlations  Id  Nipbl  Neuropsychiatric assessment Index. décimale : PER Périodiques Résumé : Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals. En ligne : http://dx.doi.org/10.1007/s10803-021-05343-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489 [article] Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation [Texte imprimé et/ou numérique] / Paola Francesca AJMONE, Auteur ; Beatrice ALLEGRI, Auteur ; Anna CEREDA, Auteur ; Giovanni MICHELINI, Auteur ; Francesca DALL'ARA, Auteur ; Milena MARIANI, Auteur ; Claudia RIGAMONTI, Auteur ; Angelo SELICORNI, Auteur ; Paola VIZZIELLO, Auteur ; Maria Antonella COSTANTINO, Auteur . - p.4763-4773. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-11 (November 2022) . - p.4763-4773 Mots-clés : Autism Spectrum Disorder/genetics  Cell Cycle Proteins/genetics  De Lange Syndrome/diagnosis  Genotype  Humans  Phenotype  CdLS  Genotype-phenotype correlations  Id  Nipbl  Neuropsychiatric assessment Index. décimale : PER Périodiques Résumé : Behavioural phenotype and autism-related traits of 38 patients affected by Cornelia de Lange syndrome (CdLS) were assessed using a specific neuropsychiatric protocol. Subsequently,we search for possible genotype-phenotype correlations comparing individuals with NIPBL variants and patients with negative molecular results. Firstly results showed a higher percentage of subjects with normal intellectual quotient (IQ) and borderline IQ; adaptive skills were lower than expected for age in all participants. 39.5% of the sample presented with autism spectrum disorder (ASD), NIPBL mutated individuals demonstrated a worse trend in comparison with the clinical diagnosis group. non-truncating individuals displayed no ASD and better communication abilities than truncating individuals. Findings increase our awareness of the strengths and weaknesses points in CdLS individuals. En ligne : http://dx.doi.org/10.1007/s10803-021-05343-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=489

Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees / A. WEISS in Autism Research, 14-9 (September 2021)  

Public ISBD [article]  inAutism Research > 14-9 (September 2021) . - p.1843-1853 Titre : Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees Type de document : Texte imprimé et/ou numérique Auteurs : A. WEISS, Auteur ; Vanessa A. D. WILSON, Auteur ; W. D. HOPKINS, Auteur Article en page(s) : p.1843-1853 Langues : Anglais (eng) Mots-clés : Animals  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Genotype  Pan troglodytes/genetics  Receptors, Vasopressin/genetics  Social Behavior  Avpr1a  autism  development  mother  primate  vasopressin Index. décimale : PER Périodiques Résumé : Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species. En ligne : http://dx.doi.org/10.1002/aur.2550 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449 [article] Early social rearing, the V1A arginine vasopressin receptor genotype, and autistic traits in chimpanzees [Texte imprimé et/ou numérique] / A. WEISS, Auteur ; Vanessa A. D. WILSON, Auteur ; W. D. HOPKINS, Auteur . - p.1843-1853. Langues : Anglais (eng) in Autism Research > 14-9 (September 2021) . - p.1843-1853 Mots-clés : Animals  Autism Spectrum Disorder/genetics  Autistic Disorder/genetics  Genotype  Pan troglodytes/genetics  Receptors, Vasopressin/genetics  Social Behavior  Avpr1a  autism  development  mother  primate  vasopressin Index. décimale : PER Périodiques Résumé : Previous studies found associations between autism-related phenotypes and both rearing and V1A arginine vasopressin receptor (AVPR1A) genotypes. We tested whether these exposures as well as their interaction were associated with autism-related phenotypes in 121 laboratory-housed chimpanzees. We used expert-derived weights to obtain autism scores from ratings on the 43-item Chimpanzee Personality Questionnaire; higher scores indicated more autistic-like traits. The first model included fixed effects for sex, age, and rearing, and a random effect that addressed the relatedness of subjects. The second model was the same except that it also included the rearing × AVPR1A genotype interaction as a fixed effect. Both models indicated that the phenotype was moderately heritable and that chimpanzees reared by their mothers had lower scores on the scale. The effect of genotype in both models indicated that chimpanzees with an indel deletion had higher scores on the scale, although the credible interval included zero. Moreover, the rearing × genotype interaction in the second model indicated that chimpanzees who possessed the non-deletion genotype and who were reared by their mother were at even greater risk. The credible interval for this effect did not include zero, but fit statistics indicated that the model without the interaction was marginally better, and the interaction was in the opposite direction than we expected based on previous work. These findings highlight the importance of rearing effects in the typical social development of our closet-living nonhuman relative. LAY SUMMARY: We tested whether, in chimpanzees, scores on a scale comprising traits that resembled aspects of autism were related to a gene associated with autism in prior research and/or early rearing. Human-reared chimpanzees had higher scores (indicating more autistic-like traits). Chimpanzees that possessed the gene also had higher scores, but we could not exclude the possibility that there was no effect of genotype. These findings suggest that we can measure autism-like characteristics in chimpanzees, and so study it in this species. En ligne : http://dx.doi.org/10.1002/aur.2550 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=449

Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children / M. H. RAHBAR in Journal of Autism and Developmental Disorders, 51-6 (June 2021)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1953-1965 Titre : Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children Type de document : Texte imprimé et/ou numérique Auteurs : M. H. RAHBAR, Auteur ; Maureen SAMMS-VAUGHAN, Auteur ; Sepideh SAROUKHANI, Auteur ; M. LEE, Auteur ; J. ZHANG, Auteur ; Jan BRESSLER, Auteur ; M. HESSABI, Auteur ; S. SHAKESPEARE-PELLINGTON, Auteur ; M. L. GROVE, Auteur ; K. A. LOVELAND, Auteur Article en page(s) : p.1953-1965 Langues : Anglais (eng) Mots-clés : African Americans  Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child  Child, Preschool  Genetic Predisposition to Disease  Genotype  Glutathione S-Transferase pi  Glutathione Transferase/genetics  Humans  Male  Manganese/blood  Polymorphism, Genetic  Autism spectrum disorder (ASD)  Blood manganese concentrations (BMC)  Conditional logistic regression (CLR)  Glutathione S-transferase (GST) genes  Interaction  Jamaica  interest. Maureen Samms-Vaughan declares that she has no conflict of interest.  Sepideh Saroukhani declares that she has no conflict of interest. MinJae Lee  declares that she has no conflict of interest. Jing Zhang declares that she has no  conflict of interest. Jan Bressler declares that she has no conflict of interest.  Manouchehr Hessabi declares that he has no conflict of interest. Sydonnie  Shakespeare-Pellington declares that she has no conflict of interest. Megan L. Grove  declares that she has no conflict of interest. Katherine A. Loveland declares that  she has no conflict of interest. Index. décimale : PER Périodiques Résumé : Using data from 266 age- and sex-matched pairs of Jamaican children with autism spectrum disorder (ASD) and typically developing (TD) controls (2-8 years), we investigated whether glutathione S-transferase theta 1 (GSTT1) modifies the association between blood manganese concentrations (BMC) and ASD. After adjusting conditional logistic regression models for socioeconomic status and the interaction between GSTT1 and GSTP1 (glutathione S-transferase pi 1), using a recessive genetic model for GSTT1 and either a co-dominant or dominant model for GSTP1, the interaction between GSTT1 and BMC was significant (P?=?0.02, P?=?0.01, respectively). Compared to controls, ASD cases with GSTT1-DD genotype had 4.33 and 4.34 times higher odds of BMC?>?12 vs.???8.3 ?g/L, respectively. Replication in other populations is warranted. En ligne : http://dx.doi.org/10.1007/s10803-020-04677-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 [article] Interaction of Blood Manganese Concentrations with GSTT1 in Relation to Autism Spectrum Disorder in Jamaican Children [Texte imprimé et/ou numérique] / M. H. RAHBAR, Auteur ; Maureen SAMMS-VAUGHAN, Auteur ; Sepideh SAROUKHANI, Auteur ; M. LEE, Auteur ; J. ZHANG, Auteur ; Jan BRESSLER, Auteur ; M. HESSABI, Auteur ; S. SHAKESPEARE-PELLINGTON, Auteur ; M. L. GROVE, Auteur ; K. A. LOVELAND, Auteur . - p.1953-1965. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 51-6 (June 2021) . - p.1953-1965 Mots-clés : African Americans  Autism Spectrum Disorder/blood/genetics  Case-Control Studies  Child  Child, Preschool  Genetic Predisposition to Disease  Genotype  Glutathione S-Transferase pi  Glutathione Transferase/genetics  Humans  Male  Manganese/blood  Polymorphism, Genetic  Autism spectrum disorder (ASD)  Blood manganese concentrations (BMC)  Conditional logistic regression (CLR)  Glutathione S-transferase (GST) genes  Interaction  Jamaica  interest. Maureen Samms-Vaughan declares that she has no conflict of interest.  Sepideh Saroukhani declares that she has no conflict of interest. MinJae Lee  declares that she has no conflict of interest. Jing Zhang declares that she has no  conflict of interest. Jan Bressler declares that she has no conflict of interest.  Manouchehr Hessabi declares that he has no conflict of interest. Sydonnie  Shakespeare-Pellington declares that she has no conflict of interest. Megan L. Grove  declares that she has no conflict of interest. Katherine A. Loveland declares that  she has no conflict of interest. Index. décimale : PER Périodiques Résumé : Using data from 266 age- and sex-matched pairs of Jamaican children with autism spectrum disorder (ASD) and typically developing (TD) controls (2-8 years), we investigated whether glutathione S-transferase theta 1 (GSTT1) modifies the association between blood manganese concentrations (BMC) and ASD. After adjusting conditional logistic regression models for socioeconomic status and the interaction between GSTT1 and GSTP1 (glutathione S-transferase pi 1), using a recessive genetic model for GSTT1 and either a co-dominant or dominant model for GSTP1, the interaction between GSTT1 and BMC was significant (P?=?0.02, P?=?0.01, respectively). Compared to controls, ASD cases with GSTT1-DD genotype had 4.33 and 4.34 times higher odds of BMC?>?12 vs.???8.3 ?g/L, respectively. Replication in other populations is warranted. En ligne : http://dx.doi.org/10.1007/s10803-020-04677-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452

Research Review: A guide to computing and implementing polygenic scores in developmental research / Andrea G. ALLEGRINI in Journal of Child Psychology and Psychiatry, 63-10 (October 2022)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1111-1124 Titre : Research Review: A guide to computing and implementing polygenic scores in developmental research Type de document : Texte imprimé et/ou numérique Auteurs : Andrea G. ALLEGRINI, Auteur ; Jessie R. BALDWIN, Auteur ; Wikus BARKHUIZEN, Auteur ; Jean-Baptiste PINGAULT, Auteur Année de publication : 2022 Article en page(s) : p.1111-1124 Langues : Anglais (eng) Mots-clés : Adolescent  Child  Genotype  Humans  Multifactorial Inheritance/genetics  Polygenic scores  developmental research  longitudinal models Index. décimale : PER Périodiques Résumé : The increasing availability of genotype data in longitudinal population- and family-based samples provides opportunities for using polygenic scores (PGS) to study developmental questions in child and adolescent psychology and psychiatry. Here, we aim to provide a comprehensive overview of how PGS can be generated and implemented in developmental psycho(patho)logy, with a focus on longitudinal designs. As such, the paper is organized into three parts: First, we provide a formal definition of polygenic scores and related concepts, focusing on assumptions and limitations. Second, we give a general overview of the methods used to compute polygenic scores, ranging from the classic approach to more advanced methods. We include recommendations and reference resources available to researchers aiming to conduct PGS analyses. Finally, we focus on the practical applications of PGS in the analysis of longitudinal data. We describe how PGS have been used to research developmental outcomes, and how they can be applied to longitudinal data to address developmental questions. En ligne : http://dx.doi.org/10.1111/jcpp.13611 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Research Review: A guide to computing and implementing polygenic scores in developmental research [Texte imprimé et/ou numérique] / Andrea G. ALLEGRINI, Auteur ; Jessie R. BALDWIN, Auteur ; Wikus BARKHUIZEN, Auteur ; Jean-Baptiste PINGAULT, Auteur . - 2022 . - p.1111-1124. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-10 (October 2022) . - p.1111-1124 Mots-clés : Adolescent  Child  Genotype  Humans  Multifactorial Inheritance/genetics  Polygenic scores  developmental research  longitudinal models Index. décimale : PER Périodiques Résumé : The increasing availability of genotype data in longitudinal population- and family-based samples provides opportunities for using polygenic scores (PGS) to study developmental questions in child and adolescent psychology and psychiatry. Here, we aim to provide a comprehensive overview of how PGS can be generated and implemented in developmental psycho(patho)logy, with a focus on longitudinal designs. As such, the paper is organized into three parts: First, we provide a formal definition of polygenic scores and related concepts, focusing on assumptions and limitations. Second, we give a general overview of the methods used to compute polygenic scores, ranging from the classic approach to more advanced methods. We include recommendations and reference resources available to researchers aiming to conduct PGS analyses. Finally, we focus on the practical applications of PGS in the analysis of longitudinal data. We describe how PGS have been used to research developmental outcomes, and how they can be applied to longitudinal data to address developmental questions. En ligne : http://dx.doi.org/10.1111/jcpp.13611 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

Autonomic breathing abnormalities in Rett syndrome: caregiver perspectives in an international database study / J. MACKAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Brinp1(-/-) mice exhibit autism-like behaviour, altered memory, hyperactivity and increased parvalbumin-positive cortical interneuron density / S. R. BERKOWICZ in Molecular Autism, 7 (2016)  

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Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder / C. L. YIN in Molecular Autism, 7 (2016)  

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How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome? / Elliott A. BEATON in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)  

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Using the PDD Behavior Inventory as a Level 2 Screener: A Classification and Regression Trees Analysis / Ira L. COHEN in Journal of Autism and Developmental Disorders, 46-9 (September 2016)  

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