Dépouillements

Editorial: The new genetics of autism / B. FRANKE in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1271-1273 Titre : Editorial: The new genetics of autism Type de document : Texte imprimé et/ou numérique Auteurs : B. FRANKE, Auteur ; E. FOMBONNE, Auteur ; A. RONALD, Auteur Article en page(s) : p.1271-1273 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1111/jcpp.13527 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Editorial: The new genetics of autism [Texte imprimé et/ou numérique] / B. FRANKE, Auteur ; E. FOMBONNE, Auteur ; A. RONALD, Auteur . - p.1271-1273. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1271-1273 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1111/jcpp.13527 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders / L. GHIRARDI in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1274-1284 Titre : Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders Type de document : Texte imprimé et/ou numérique Auteurs : L. GHIRARDI, Auteur ; R. KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur ; J. MARTIN, Auteur ; H. LARSSON, Auteur ; B. M. D'ONOFRIO, Auteur ; P. LICHTENSTEIN, Auteur ; M. J. TAYLOR, Auteur Article en page(s) : p.1274-1284 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Cohort Studies  Comorbidity  Humans  Intellectual Disability/epidemiology/genetics  Neurodevelopmental Disorders/epidemiology/genetics  Autism spectrum disorder  family based study  genetic association  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Familial and genetic associations between autism spectrum disorder (ASD) and other neurodevelopmental and psychiatric disorders have been reported, sometimes with conflicting results. We estimated familial and genetic associations between ASD and nine disorder groups, and explored differences in these associations for ASD in the context of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. METHODS: Individuals born between 1985 and 2009 living in Sweden on their seventh birthday were linked to their biological parents in order to identify different types of relatives. We retrieved information on all the disorders considered from the National Patient Register. Logistic regression was used to estimate the familial association between ASD and other neurodevelopmental and psychiatric disorders in the different groups of relatives. Structural equation modeling was used to estimate phenotypic (r(p) ) and genetic associations (r(g) ), as well as the contribution of genetic influences to r(p) . RESULTS: The study included 2,398,608 individuals. Among relatives of individuals diagnosed with ASD, there was an increased risk of the disorders considered, compared to relatives of individuals who were not diagnosed with ASD. Stronger associations were detected for ASD without any additional diagnosis of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. The strongest genetic correlation was estimated between ASD and other neurodevelopmental disorders (r(g)  = 0.73; 95% CI = 0.66-0.79). Moderate genetic correlations were estimated for anxiety disorders (r(g)  = 0.47; 95% CI = 0.33-0.61), depression (r(g)  = 0.52; 95% CI = 0.37-0.66), and intentional self-harm (r(g)  = 0.54; 95% CI = 0.36-0.71). CONCLUSIONS: ASD shows familial and genetic association not only with other neurodevelopmental disorders, but also with other psychiatric disorders, such as anxiety, depression, and intentional self-harm. Family history of ASD comorbid with intellectual disability, epilepsy, congenital malformations, or chromosomal abnormalities is less related to other psychiatric disorders, potentially suggesting a different etiology for this subgroup of patients. En ligne : http://dx.doi.org/10.1111/jcpp.13508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Familial and genetic associations between autism spectrum disorder and other neurodevelopmental and psychiatric disorders [Texte imprimé et/ou numérique] / L. GHIRARDI, Auteur ; R. KUJA-HALKOLA, Auteur ; Agnieszka BUTWICKA, Auteur ; J. MARTIN, Auteur ; H. LARSSON, Auteur ; B. M. D'ONOFRIO, Auteur ; P. LICHTENSTEIN, Auteur ; M. J. TAYLOR, Auteur . - p.1274-1284. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1274-1284 Mots-clés : Autism Spectrum Disorder/epidemiology/genetics  Cohort Studies  Comorbidity  Humans  Intellectual Disability/epidemiology/genetics  Neurodevelopmental Disorders/epidemiology/genetics  Autism spectrum disorder  family based study  genetic association  neurodevelopmental disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Familial and genetic associations between autism spectrum disorder (ASD) and other neurodevelopmental and psychiatric disorders have been reported, sometimes with conflicting results. We estimated familial and genetic associations between ASD and nine disorder groups, and explored differences in these associations for ASD in the context of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. METHODS: Individuals born between 1985 and 2009 living in Sweden on their seventh birthday were linked to their biological parents in order to identify different types of relatives. We retrieved information on all the disorders considered from the National Patient Register. Logistic regression was used to estimate the familial association between ASD and other neurodevelopmental and psychiatric disorders in the different groups of relatives. Structural equation modeling was used to estimate phenotypic (r(p) ) and genetic associations (r(g) ), as well as the contribution of genetic influences to r(p) . RESULTS: The study included 2,398,608 individuals. Among relatives of individuals diagnosed with ASD, there was an increased risk of the disorders considered, compared to relatives of individuals who were not diagnosed with ASD. Stronger associations were detected for ASD without any additional diagnosis of intellectual disability, epilepsy, chromosomal abnormalities, and congenital malformations. The strongest genetic correlation was estimated between ASD and other neurodevelopmental disorders (r(g)  = 0.73; 95% CI = 0.66-0.79). Moderate genetic correlations were estimated for anxiety disorders (r(g)  = 0.47; 95% CI = 0.33-0.61), depression (r(g)  = 0.52; 95% CI = 0.37-0.66), and intentional self-harm (r(g)  = 0.54; 95% CI = 0.36-0.71). CONCLUSIONS: ASD shows familial and genetic association not only with other neurodevelopmental disorders, but also with other psychiatric disorders, such as anxiety, depression, and intentional self-harm. Family history of ASD comorbid with intellectual disability, epilepsy, congenital malformations, or chromosomal abnormalities is less related to other psychiatric disorders, potentially suggesting a different etiology for this subgroup of patients. En ligne : http://dx.doi.org/10.1111/jcpp.13508 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder / H. PEYRE in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1285-1296 Titre : Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder Type de document : Texte imprimé et/ou numérique Auteurs : H. PEYRE, Auteur ; T. SCHOELER, Auteur ; C. LIU, Auteur ; C. M. WILLIAMS, Auteur ; N. HOERTEL, Auteur ; A. HAVDAHL, Auteur ; J. B. PINGAULT, Auteur Article en page(s) : p.1285-1296 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology/genetics  Autism Spectrum Disorder/epidemiology/genetics  Comorbidity  Genome-Wide Association Study  Genomics  Humans  Paired Box Transcription Factors/genetics  Polymorphism, Single Nucleotide  Repressor Proteins/genetics  Autism spectrum disorder  Gwas  Snp  attention deficit hyperactivity disorder  colocalization  common genetic variants  comorbidity  genomic structural equation modelling Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. En ligne : http://dx.doi.org/10.1111/jcpp.13479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Combining multivariate genomic approaches to elucidate the comorbidity between autism spectrum disorder and attention deficit hyperactivity disorder [Texte imprimé et/ou numérique] / H. PEYRE, Auteur ; T. SCHOELER, Auteur ; C. LIU, Auteur ; C. M. WILLIAMS, Auteur ; N. HOERTEL, Auteur ; A. HAVDAHL, Auteur ; J. B. PINGAULT, Auteur . - p.1285-1296. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1285-1296 Mots-clés : Attention Deficit Disorder with Hyperactivity/epidemiology/genetics  Autism Spectrum Disorder/epidemiology/genetics  Comorbidity  Genome-Wide Association Study  Genomics  Humans  Paired Box Transcription Factors/genetics  Polymorphism, Single Nucleotide  Repressor Proteins/genetics  Autism spectrum disorder  Gwas  Snp  attention deficit hyperactivity disorder  colocalization  common genetic variants  comorbidity  genomic structural equation modelling Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. We conducted genomic analyses of common risk variants (i.e. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. METHODS: With the summary data from two GWAS, one on ASD (N = 46,350) and another on ADHD (N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. Functional genomic analyses were then conducted on shared and specific common genetic variants. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. RESULTS: We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. CONCLUSIONS: Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. En ligne : http://dx.doi.org/10.1111/jcpp.13479 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries / J. WICKSTROM in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1297-1307 Titre : Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries Type de document : Texte imprimé et/ou numérique Auteurs : J. WICKSTROM, Auteur ; C. FARMER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; A. R. MITZ, Auteur ; S. J. SANDERS, Auteur ; Somer L. BISHOP, Auteur ; A. THURM, Auteur Article en page(s) : p.1297-1307 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics  Autistic Disorder  Humans  Language  Motor Skills  Registries  copy number variant  developmental phenotype  intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries [Texte imprimé et/ou numérique] / J. WICKSTROM, Auteur ; C. FARMER, Auteur ; LeeAnne GREEN SNYDER, Auteur ; A. R. MITZ, Auteur ; S. J. SANDERS, Auteur ; Somer L. BISHOP, Auteur ; A. THURM, Auteur . - p.1297-1307. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1297-1307 Mots-clés : Autism Spectrum Disorder/genetics  Autistic Disorder  Humans  Language  Motor Skills  Registries  copy number variant  developmental phenotype  intellectual disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Recent large-scale initiatives have led to systematically collected phenotypic data for several rare genetic conditions implicated in autism spectrum disorder (ASD). The onset of developmentally expected skills (e.g. walking, talking) serve as readily quantifiable aspects of the behavioral phenotype. This study's aims were: (a) describe the distribution of ages of attainment of gross motor and expressive language milestones in several rare genetic conditions, and (b) characterize the likelihood of delays in these conditions compared with idiopathic ASD. METHODS: Participants aged 3 years and older were drawn from two Simons Foundation Autism Research Initiative registries that employed consistent phenotyping protocols. Inclusion criteria were a confirmed genetic diagnosis of one of 16 genetic conditions (Simons Searchlight) or absence of known pathogenic genetic findings in individuals with ASD (SPARK). Parent-reported age of acquisition of three gross motor and two expressive language milestones was described and categorized as on-time or delayed, relative to normative expectations. RESULTS: Developmental milestone profiles of probands with genetic conditions were marked by extensive delays (including nonattainment), with highest severity in single gene conditions and more delays than idiopathic ASD in motor skills. Compared with idiopathic ASD, the median odds of delay among the genetic groups were higher by 8.3 times (IQR 5.8-16.3) for sitting, 12.4 times (IQR 5.3-19.5) for crawling, 26.8 times (IQR 7.7-41.1) for walking, 2.7 times (IQR 1.7-5.5) for single words, and 5.7 times (IQR 2.7-18.3) for combined words. CONCLUSIONS: Delays in developmental milestones, particularly in gross motor skills, are frequent and may be among the earliest indicators of differentially affected developmental processes in specific genetically defined conditions associated with ASD, as compared with those with clinical diagnoses of idiopathic ASD. The possibility of different developmental pathways leading to ASD-associated phenotypes should be considered when deciding how to employ specific genetic conditions as models for ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13492 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis / L. A. FISH in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319 Titre : Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis Type de document : Texte imprimé et/ou numérique Auteurs : L. A. FISH, Auteur ; P. NYSTROM, Auteur ; T. GLIGA, Auteur ; A. GUI, Auteur ; Jannath BEGUM ALI, Auteur ; L. MASON, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; M. H. JOHNSON, Auteur ; Tony CHARMAN, Auteur ; R. HARRISON, Auteur ; E. MEABURN, Auteur ; T. FALCK-YTTER, Auteur ; E. J. H. JONES, Auteur Article en page(s) : p.1308-1319 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Humans  Infant  Phenotype  Reflex  Autism spectrum disorder  infancy  neurodevelopment  pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (? = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: ? = .54, 95% CI = 0.08, 0.99; other: ? = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (? = .08, 95% CI = 0.01, 0.14) and RRB (? = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Development of the pupillary light reflex from 9 to 24 months: association with common autism spectrum disorder (ASD) genetic liability and 3-year ASD diagnosis [Texte imprimé et/ou numérique] / L. A. FISH, Auteur ; P. NYSTROM, Auteur ; T. GLIGA, Auteur ; A. GUI, Auteur ; Jannath BEGUM ALI, Auteur ; L. MASON, Auteur ; S. GARG, Auteur ; J. GREEN, Auteur ; M. H. JOHNSON, Auteur ; Tony CHARMAN, Auteur ; R. HARRISON, Auteur ; E. MEABURN, Auteur ; T. FALCK-YTTER, Auteur ; E. J. H. JONES, Auteur . - p.1308-1319. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1308-1319 Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Humans  Infant  Phenotype  Reflex  Autism spectrum disorder  infancy  neurodevelopment  pupillary light reflex Index. décimale : PER Périodiques Résumé : BACKGROUND: Although autism spectrum disorder (ASD) is heritable, the mechanisms through which genes contribute to symptom emergence remain unclear. Investigating candidate intermediate phenotypes such as the pupillary light reflex (PLR) prospectively from early in development could bridge genotype and behavioural phenotype. METHODS: Using eye tracking, we longitudinally measured the PLR at 9, 14 and 24 months in a sample of infants (N = 264) enriched for a family history of ASD; 27 infants received an ASD diagnosis at 3 years. We examined the 9- to 24-month developmental trajectories of PLR constriction latency (onset; ms) and amplitude (%) and explored their relation to categorical 3-year ASD outcome, polygenic liability for ASD and dimensional 3-year social affect (SA) and repetitive/restrictive behaviour (RRB) traits. Polygenic scores for ASD (PGS(ASD) ) were calculated for 190 infants. RESULTS: While infants showed a decrease in latency between 9 and 14 months, higher PGS(ASD) was associated with a smaller decrease in latency in the first year (? = -.16, 95% CI = -0.31, -0.002); infants with later ASD showed a significantly steeper decrease in latency (a putative 'catch-up') between 14 and 24 months relative to those with other outcomes (typical: ? = .54, 95% CI = 0.08, 0.99; other: ? = .53, 95% CI = 0.02, 1.04). Latency development did not associate with later dimensional variation in ASD-related traits. In contrast, change in amplitude was not related to categorical ASD or genetics, but decreasing 9- to 14-month amplitude was associated with higher SA (? = .08, 95% CI = 0.01, 0.14) and RRB (? = .05, 95% CI = 0.004, 0.11) traits. CONCLUSIONS: These findings corroborate PLR development as possible intermediate phenotypes being linked to both genetic liability and phenotypic outcomes. Future work should incorporate alternative measures (e.g. functionally informed structural and genetic measures) to test whether distinct neural mechanisms underpin PLR alterations. En ligne : http://dx.doi.org/10.1111/jcpp.13518 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Polygenic scores differentially predict developmental trajectories of subtypes of social withdrawal in childhood / Geneviève MORNEAU-VAILLANCOURT in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1320-1329 Titre : Polygenic scores differentially predict developmental trajectories of subtypes of social withdrawal in childhood Type de document : Texte imprimé et/ou numérique Auteurs : Geneviève MORNEAU-VAILLANCOURT, Auteur ; Till F. M. ANDLAUER, Auteur ; I. OUELLET-MORIN, Auteur ; S. PAQUIN, Auteur ; M. R. BRENDGEN, Auteur ; F. VITARO, Auteur ; Jean-Philippe GOUIN, Auteur ; Jean R. SEGUIN, Auteur ; É GAGNON, Auteur ; Rosa CHEESMAN, Auteur ; N. FORGET-DUBOIS, Auteur ; G. A. ROULEAU, Auteur ; G. TURECKI, Auteur ; R. E. TREMBLAY, Auteur ; Sylvana M. CÔTÉ, Auteur ; G. DIONNE, Auteur ; Michel BOIVIN, Auteur Article en page(s) : p.1320-1329 Langues : Anglais (eng) Mots-clés : Attention Deficit Disorder with Hyperactivity  Autism Spectrum Disorder  Child  Humans  Infant, Newborn  Loneliness  Longitudinal Studies  Multifactorial Inheritance/genetics  Prospective Studies  Social withdrawal  polygenic scores  preference for solitude  social wariness  trajectories Index. décimale : PER Périodiques Résumé : BACKGROUND: Children who consistently withdraw from social situations face increased risk for later socioemotional difficulties. Twin studies indicate that genetic factors substantially account for the persistence of social withdrawal over time. However, the molecular genetic etiology of chronic courses of social wariness and preference for solitude, two dimensions of social withdrawal, remains undocumented. The objectives of the present study were (a) to identify high-risk trajectories for social wariness and preference for solitude in childhood and (b) to examine whether falling on these high-risk trajectories can be predicted by specific polygenic scores for mental health traits and disorders and by a general polygenic predisposition to these traits. METHODS: Teachers evaluated 971 genotyped children at five occasions (age 6 to 12 years) from two prospective longitudinal studies, the Quebec Newborn Twin Study and the Quebec Longitudinal Study of Child Development. Developmental trajectories for social wariness and preference for solitude were identified. We tested whether polygenic scores for attention deficit hyperactivity disorder, autism spectrum disorder, depression, loneliness, and subjective well-being, as well as a general mental health genetic risk score derived across these traits, were associated with the developmental trajectories. RESULTS: Polygenic scores differentially predicted social wariness and preference for solitude. Only the loneliness polygenic score significantly predicted the high trajectory for social wariness. By contrast, the general mental health genetic risk score factor was associated with the trajectory depicting high-chronic preference for solitude. CONCLUSIONS: Distinct associations were uncovered between the polygenic scores, social wariness, and preference for solitude. En ligne : http://dx.doi.org/10.1111/jcpp.13459 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Polygenic scores differentially predict developmental trajectories of subtypes of social withdrawal in childhood [Texte imprimé et/ou numérique] / Geneviève MORNEAU-VAILLANCOURT, Auteur ; Till F. M. ANDLAUER, Auteur ; I. OUELLET-MORIN, Auteur ; S. PAQUIN, Auteur ; M. R. BRENDGEN, Auteur ; F. VITARO, Auteur ; Jean-Philippe GOUIN, Auteur ; Jean R. SEGUIN, Auteur ; É GAGNON, Auteur ; Rosa CHEESMAN, Auteur ; N. FORGET-DUBOIS, Auteur ; G. A. ROULEAU, Auteur ; G. TURECKI, Auteur ; R. E. TREMBLAY, Auteur ; Sylvana M. CÔTÉ, Auteur ; G. DIONNE, Auteur ; Michel BOIVIN, Auteur . - p.1320-1329. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1320-1329 Mots-clés : Attention Deficit Disorder with Hyperactivity  Autism Spectrum Disorder  Child  Humans  Infant, Newborn  Loneliness  Longitudinal Studies  Multifactorial Inheritance/genetics  Prospective Studies  Social withdrawal  polygenic scores  preference for solitude  social wariness  trajectories Index. décimale : PER Périodiques Résumé : BACKGROUND: Children who consistently withdraw from social situations face increased risk for later socioemotional difficulties. Twin studies indicate that genetic factors substantially account for the persistence of social withdrawal over time. However, the molecular genetic etiology of chronic courses of social wariness and preference for solitude, two dimensions of social withdrawal, remains undocumented. The objectives of the present study were (a) to identify high-risk trajectories for social wariness and preference for solitude in childhood and (b) to examine whether falling on these high-risk trajectories can be predicted by specific polygenic scores for mental health traits and disorders and by a general polygenic predisposition to these traits. METHODS: Teachers evaluated 971 genotyped children at five occasions (age 6 to 12 years) from two prospective longitudinal studies, the Quebec Newborn Twin Study and the Quebec Longitudinal Study of Child Development. Developmental trajectories for social wariness and preference for solitude were identified. We tested whether polygenic scores for attention deficit hyperactivity disorder, autism spectrum disorder, depression, loneliness, and subjective well-being, as well as a general mental health genetic risk score derived across these traits, were associated with the developmental trajectories. RESULTS: Polygenic scores differentially predicted social wariness and preference for solitude. Only the loneliness polygenic score significantly predicted the high trajectory for social wariness. By contrast, the general mental health genetic risk score factor was associated with the trajectory depicting high-chronic preference for solitude. CONCLUSIONS: Distinct associations were uncovered between the polygenic scores, social wariness, and preference for solitude. En ligne : http://dx.doi.org/10.1111/jcpp.13459 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Examining the bidirectional association between emotion recognition and social autistic traits using observational and genetic analyses / Z. E. REED in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1330-1338 Titre : Examining the bidirectional association between emotion recognition and social autistic traits using observational and genetic analyses Type de document : Texte imprimé et/ou numérique Auteurs : Z. E. REED, Auteur ; L. MAHEDY, Auteur ; A. JACKSON, Auteur ; George DAVEY SMITH, Auteur ; I. PENTON-VOAK, Auteur ; A. S. ATTWOOD, Auteur ; M. R. MUNAFO, Auteur Article en page(s) : p.1330-1338 Langues : Anglais (eng) Mots-clés : Adult  Autism Spectrum Disorder/genetics  Autistic Disorder  Child  Emotions  Humans  Longitudinal Studies  Parents  Young Adult  Alspac  Autism spectrum disorder  emotion recognition  polygenic risk score  social autistic traits Index. décimale : PER Périodiques Résumé : BACKGROUND: There is mixed evidence for an association between autism spectrum disorder (ASD) and emotion recognition deficits. We sought to assess the bidirectionality of this association using phenotypic and genetic data in a large community sample. METHODS: Analyses were conducted in three stages. First, we examined the bidirectional association between social autistic traits at age 8 years and emotion recognition task (ERT) responses at age 24 years (Study 1; N = 3,562); and between Diagnostic Analysis of Non-Verbal Accuracy (DANVA) emotion recognition responses at age 8 years and social autistic traits at age 10 years (Study 2; N = 9,071). Next, we used genetic analyses (Study 3) to examine the association between polygenic risk scores for ASD and outcomes for the ERT and DANVA. The genetic correlation between ASD and ERT responses at age 24 was also estimated. Analyses were conducted in the Avon Longitudinal Study of Parents and Children. RESULTS: Social autistic traits at age 8 years were negatively associated with later total correct responses on ERT in Study 1 (b = -0.18; 95% CI: -0.27 to -0.09). We also found evidence of an association in Study 2 (b = -0.04; 95% CI: -0.05 to -0.03). We found the opposite association, that is positive, between the ASD polygenic risk score and ERT (b = 0.40; 95% CI: 0.10 to 0.70); however, this association varied across different p-value thresholds and would not survive multiple testing, so should be interpreted with caution. We did not find evidence of a genetic correlation between ASD and ERT. CONCLUSION: We found an observational association between poorer emotion recognition and increased social autistic traits. Our genetic analyses may suggest a shared genetic aetiology between these or a potential causal pathway; however, future research would benefit from using better powered GWAS to examine this further. Our results may inform interventions targeting emotion recognition. En ligne : http://dx.doi.org/10.1111/jcpp.13395 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Examining the bidirectional association between emotion recognition and social autistic traits using observational and genetic analyses [Texte imprimé et/ou numérique] / Z. E. REED, Auteur ; L. MAHEDY, Auteur ; A. JACKSON, Auteur ; George DAVEY SMITH, Auteur ; I. PENTON-VOAK, Auteur ; A. S. ATTWOOD, Auteur ; M. R. MUNAFO, Auteur . - p.1330-1338. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1330-1338 Mots-clés : Adult  Autism Spectrum Disorder/genetics  Autistic Disorder  Child  Emotions  Humans  Longitudinal Studies  Parents  Young Adult  Alspac  Autism spectrum disorder  emotion recognition  polygenic risk score  social autistic traits Index. décimale : PER Périodiques Résumé : BACKGROUND: There is mixed evidence for an association between autism spectrum disorder (ASD) and emotion recognition deficits. We sought to assess the bidirectionality of this association using phenotypic and genetic data in a large community sample. METHODS: Analyses were conducted in three stages. First, we examined the bidirectional association between social autistic traits at age 8 years and emotion recognition task (ERT) responses at age 24 years (Study 1; N = 3,562); and between Diagnostic Analysis of Non-Verbal Accuracy (DANVA) emotion recognition responses at age 8 years and social autistic traits at age 10 years (Study 2; N = 9,071). Next, we used genetic analyses (Study 3) to examine the association between polygenic risk scores for ASD and outcomes for the ERT and DANVA. The genetic correlation between ASD and ERT responses at age 24 was also estimated. Analyses were conducted in the Avon Longitudinal Study of Parents and Children. RESULTS: Social autistic traits at age 8 years were negatively associated with later total correct responses on ERT in Study 1 (b = -0.18; 95% CI: -0.27 to -0.09). We also found evidence of an association in Study 2 (b = -0.04; 95% CI: -0.05 to -0.03). We found the opposite association, that is positive, between the ASD polygenic risk score and ERT (b = 0.40; 95% CI: 0.10 to 0.70); however, this association varied across different p-value thresholds and would not survive multiple testing, so should be interpreted with caution. We did not find evidence of a genetic correlation between ASD and ERT. CONCLUSION: We found an observational association between poorer emotion recognition and increased social autistic traits. Our genetic analyses may suggest a shared genetic aetiology between these or a potential causal pathway; however, future research would benefit from using better powered GWAS to examine this further. Our results may inform interventions targeting emotion recognition. En ligne : http://dx.doi.org/10.1111/jcpp.13395 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder / V. FREWER in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1339-1352 Titre : A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : V. FREWER, Auteur ; C. P. GILCHRIST, Auteur ; S. E. COLLINS, Auteur ; K. WILLIAMS, Auteur ; M. L. SEAL, Auteur ; R. J. LEVENTER, Auteur ; D. J. AMOR, Auteur Article en page(s) : p.1339-1352 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnostic imaging/genetics  Autistic Disorder  Brain/diagnostic imaging  Humans  Magnetic Resonance Imaging  Neuroimaging  Autism spectrum disorder  Mri  magnetic resonance imaging  monogenic disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Research on monogenic forms of autism spectrum disorder (autism) can inform our understanding of genetic contributions to the autism phenotype; yet, there is much to be learned about the pathways from gene to brain structure to behavior. This systematic review summarizes and evaluates research on brain magnetic resonance imaging (MRI) findings in monogenic conditions that have strong association with autism. This will improve understanding of the impact of genetic variability on brain structure and related behavioral traits in autism. METHODS: The search strategy for this systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Risk of bias (ROB) assessment was completed on included studies using the Newcastle-Ottawa Scales. RESULTS: Of 4,287 studies screened, 69 were included pertaining to 13 of the top 20 genes with the strongest association with autism. The greatest number of studies related to individuals with PTEN variants and autism. Brain MRI abnormalities were reported for 12 of the 13 genes studied, and in 51.7% of participants across all 13 genes, including 100% of participants with ARID1B variants. Specific MRI findings were highly variable, with no clear patterns emerging within or between the 13 genes, although white matter abnormalities were the most common. Few studies reported specific details about methods for acquisition and processing of brain MRI, and descriptors for brain abnormalities were variable. ROB assessment indicated high ROB for all studies, largely due to small sample sizes and lack of comparison groups. CONCLUSIONS: Brain abnormalities are common in this population of individuals, in particular, children; however, a range of different brain abnormalities were reported within and between genes. Directions for future neuroimaging research in monogenic autism are suggested. En ligne : http://dx.doi.org/10.1111/jcpp.13510 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder [Texte imprimé et/ou numérique] / V. FREWER, Auteur ; C. P. GILCHRIST, Auteur ; S. E. COLLINS, Auteur ; K. WILLIAMS, Auteur ; M. L. SEAL, Auteur ; R. J. LEVENTER, Auteur ; D. J. AMOR, Auteur . - p.1339-1352. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1339-1352 Mots-clés : Autism Spectrum Disorder/diagnostic imaging/genetics  Autistic Disorder  Brain/diagnostic imaging  Humans  Magnetic Resonance Imaging  Neuroimaging  Autism spectrum disorder  Mri  magnetic resonance imaging  monogenic disorders Index. décimale : PER Périodiques Résumé : BACKGROUND: Research on monogenic forms of autism spectrum disorder (autism) can inform our understanding of genetic contributions to the autism phenotype; yet, there is much to be learned about the pathways from gene to brain structure to behavior. This systematic review summarizes and evaluates research on brain magnetic resonance imaging (MRI) findings in monogenic conditions that have strong association with autism. This will improve understanding of the impact of genetic variability on brain structure and related behavioral traits in autism. METHODS: The search strategy for this systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Risk of bias (ROB) assessment was completed on included studies using the Newcastle-Ottawa Scales. RESULTS: Of 4,287 studies screened, 69 were included pertaining to 13 of the top 20 genes with the strongest association with autism. The greatest number of studies related to individuals with PTEN variants and autism. Brain MRI abnormalities were reported for 12 of the 13 genes studied, and in 51.7% of participants across all 13 genes, including 100% of participants with ARID1B variants. Specific MRI findings were highly variable, with no clear patterns emerging within or between the 13 genes, although white matter abnormalities were the most common. Few studies reported specific details about methods for acquisition and processing of brain MRI, and descriptors for brain abnormalities were variable. ROB assessment indicated high ROB for all studies, largely due to small sample sizes and lack of comparison groups. CONCLUSIONS: Brain abnormalities are common in this population of individuals, in particular, children; however, a range of different brain abnormalities were reported within and between genes. Directions for future neuroimaging research in monogenic autism are suggested. En ligne : http://dx.doi.org/10.1111/jcpp.13510 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Autism spectrum disorder and obstetric optimality: a twin study and meta-analysis of sibling studies / S. GÓMEZ-VALLEJO in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1353-1362 Titre : Autism spectrum disorder and obstetric optimality: a twin study and meta-analysis of sibling studies Type de document : Texte imprimé et/ou numérique Auteurs : S. GÓMEZ-VALLEJO, Auteur ; M. LEONI, Auteur ; A. RONALD, Auteur ; E. COLVERT, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur Article en page(s) : p.1353-1362 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/etiology/genetics  Autistic Disorder  Child  Diseases in Twins  Female  Humans  Infant, Newborn  Pregnancy  Siblings  Twins  Autism spectrum disorder  genetics  obstetric complications Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic basis. Recent studies have suggested that its aetiology is also influenced by environmental factors. Some of the most examined environmental factors are obstetric complications. However, the results are inconsistent. METHODS: We aimed to explore the association between obstetric complications and autism in a population-based twin sample using the Obstetric Enquiry Scale (OES), a scale that measures the presence or absence of pre-, peri- and neonatal factors. Additionally, we report the meta-analytic results for obstetrical factors reported in previously published sibling studies. RESULTS: Our study included 115 cases pairs and 62 controls pairs and showed that children with autism and their unaffected co-twins present significantly more obstetric complications than controls (ASD vs. controls ? 1.26, CI 95% 1.11-1.40 p < .001; unaffected co-twin vs. controls ? 1.20, 95% CI 1.07-1.36 p < .003). However, we did not find statistically significant differences between children with ASD and their unaffected co-twins (? .96, 95% CI 0.85-1.09, p 0.55). Meta-analysis demonstrated that maternal hypertension (RR 1.35, CI 95% 1.23-1.48), uterine bleeding (RR 1.20 CI 95% 1.01-1.42) and exposure to antibiotic during pregnancy (1.11 CI 95% 1.00-1.22) increase risk of ASD. CONCLUSIONS: This study confirms that children with ASD and their unaffected twins show more obstetric complications than controls. However, these complications do not distinguish between ASD twins and their unaffected co-twins. In addition, the meta-analysis showed little influence of birth factors on ASD which suggests a shared familial liability for both obstetric complications and autism, rather than a causal association. En ligne : http://dx.doi.org/10.1111/jcpp.13526 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Autism spectrum disorder and obstetric optimality: a twin study and meta-analysis of sibling studies [Texte imprimé et/ou numérique] / S. GÓMEZ-VALLEJO, Auteur ; M. LEONI, Auteur ; A. RONALD, Auteur ; E. COLVERT, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur . - p.1353-1362. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1353-1362 Mots-clés : Autism Spectrum Disorder/etiology/genetics  Autistic Disorder  Child  Diseases in Twins  Female  Humans  Infant, Newborn  Pregnancy  Siblings  Twins  Autism spectrum disorder  genetics  obstetric complications Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic basis. Recent studies have suggested that its aetiology is also influenced by environmental factors. Some of the most examined environmental factors are obstetric complications. However, the results are inconsistent. METHODS: We aimed to explore the association between obstetric complications and autism in a population-based twin sample using the Obstetric Enquiry Scale (OES), a scale that measures the presence or absence of pre-, peri- and neonatal factors. Additionally, we report the meta-analytic results for obstetrical factors reported in previously published sibling studies. RESULTS: Our study included 115 cases pairs and 62 controls pairs and showed that children with autism and their unaffected co-twins present significantly more obstetric complications than controls (ASD vs. controls ? 1.26, CI 95% 1.11-1.40 p < .001; unaffected co-twin vs. controls ? 1.20, 95% CI 1.07-1.36 p < .003). However, we did not find statistically significant differences between children with ASD and their unaffected co-twins (? .96, 95% CI 0.85-1.09, p 0.55). Meta-analysis demonstrated that maternal hypertension (RR 1.35, CI 95% 1.23-1.48), uterine bleeding (RR 1.20 CI 95% 1.01-1.42) and exposure to antibiotic during pregnancy (1.11 CI 95% 1.00-1.22) increase risk of ASD. CONCLUSIONS: This study confirms that children with ASD and their unaffected twins show more obstetric complications than controls. However, these complications do not distinguish between ASD twins and their unaffected co-twins. In addition, the meta-analysis showed little influence of birth factors on ASD which suggests a shared familial liability for both obstetric complications and autism, rather than a causal association. En ligne : http://dx.doi.org/10.1111/jcpp.13526 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456

Ethical dimensions of translational developmental neuroscience research in autism / A. MANZINI in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1363-1373 Titre : Ethical dimensions of translational developmental neuroscience research in autism Type de document : Texte imprimé et/ou numérique Auteurs : A. MANZINI, Auteur ; E. J. H. JONES, Auteur ; Tony CHARMAN, Auteur ; M. ELSABBAGH, Auteur ; M. H. JOHNSON, Auteur ; I. SINGH, Auteur Article en page(s) : p.1363-1373 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Autistic Disorder  Brain  Child  Early Intervention, Educational  Humans  Neurosciences  Parents  Autism  biomarkers  ethics  genetics  infant siblings  neurodevelopment  Ltd. and Servier  and has received royalties from Sage Publications and Guilford  Publications. Index. décimale : PER Périodiques Résumé : BACKGROUND: Since the 1990s, increasing research has been devoted to the identification of biomarkers for autism to help attain more objective diagnosis; enable early prediction of prognosis; and guide individualized intervention options. Early studies focused on the identification of genetic variants associated with autism, but more recently, research has expanded to investigate neurodevelopmental markers. While ethicists have extensively discussed issues around advances in autism genomics, much less ethical scrutiny has focused on research on early neurodevelopment and on the interventions being developed as a result. OBJECTIVES: We summarize the current state of the science on the identification of early markers for autism and its potential clinical applications, before providing an overview of the ethical issues arising from increasing understanding of children's neurodevelopment in very early life. RESULTS: Advances in the understanding of brain and behavioral trajectories preceding later autism diagnosis raise ethical concerns around three themes: (a) New models for understanding autism; (b) Risks and benefits of early identification and intervention; and (c) Communication of early concerns to families. These ethical issues should be further investigated in research conducted in partnership with autistic people and their families. CONCLUSIONS: This paper highlights the need for ethical scrutiny of early neurodevelopmental research in autism. Scrutiny requires expertise and methods from the basic sciences and bioethics, as well as constructive collaborations among autistic people, their parents, and autism researchers to anticipate early interventions that serve the community's interests and accommodate the varied experiences and preferences of people on the spectrum and their families. En ligne : http://dx.doi.org/10.1111/jcpp.13494 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456 [article] Ethical dimensions of translational developmental neuroscience research in autism [Texte imprimé et/ou numérique] / A. MANZINI, Auteur ; E. J. H. JONES, Auteur ; Tony CHARMAN, Auteur ; M. ELSABBAGH, Auteur ; M. H. JOHNSON, Auteur ; I. SINGH, Auteur . - p.1363-1373. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-11 (November 2021) . - p.1363-1373 Mots-clés : Autism Spectrum Disorder/diagnosis/genetics  Autistic Disorder  Brain  Child  Early Intervention, Educational  Humans  Neurosciences  Parents  Autism  biomarkers  ethics  genetics  infant siblings  neurodevelopment  Ltd. and Servier  and has received royalties from Sage Publications and Guilford  Publications. Index. décimale : PER Périodiques Résumé : BACKGROUND: Since the 1990s, increasing research has been devoted to the identification of biomarkers for autism to help attain more objective diagnosis; enable early prediction of prognosis; and guide individualized intervention options. Early studies focused on the identification of genetic variants associated with autism, but more recently, research has expanded to investigate neurodevelopmental markers. While ethicists have extensively discussed issues around advances in autism genomics, much less ethical scrutiny has focused on research on early neurodevelopment and on the interventions being developed as a result. OBJECTIVES: We summarize the current state of the science on the identification of early markers for autism and its potential clinical applications, before providing an overview of the ethical issues arising from increasing understanding of children's neurodevelopment in very early life. RESULTS: Advances in the understanding of brain and behavioral trajectories preceding later autism diagnosis raise ethical concerns around three themes: (a) New models for understanding autism; (b) Risks and benefits of early identification and intervention; and (c) Communication of early concerns to families. These ethical issues should be further investigated in research conducted in partnership with autistic people and their families. CONCLUSIONS: This paper highlights the need for ethical scrutiny of early neurodevelopmental research in autism. Scrutiny requires expertise and methods from the basic sciences and bioethics, as well as constructive collaborations among autistic people, their parents, and autism researchers to anticipate early interventions that serve the community's interests and accommodate the varied experiences and preferences of people on the spectrum and their families. En ligne : http://dx.doi.org/10.1111/jcpp.13494 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=456