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Editorial Perspective: From schizophrenia polygenic risk score to vulnerability (endo-)phenotypes: translational pathways in child and adolescent mental health / M. POLETTI in Journal of Child Psychology and Psychiatry, 59-7 (July 2018)
[article]
Titre : Editorial Perspective: From schizophrenia polygenic risk score to vulnerability (endo-)phenotypes: translational pathways in child and adolescent mental health Type de document : Texte imprimé et/ou numérique Auteurs : M. POLETTI, Auteur ; A. RABALLO, Auteur Article en page(s) : p.822-825 Langues : Anglais (eng) Mots-clés : Schizophrenia development phenotype polygenic risk score psychopathology vulnerability Index. décimale : PER Périodiques Résumé : The Polygenic Risk Scores (PRS) approach is becoming increasingly prominent in psycho-behavioral research, however, its translational potential is still relatively underconceptualized. Indeed, PRS paradigm (which capitalizes on the combination of multiple genetic markers into a single proxy score to predict lifetime outcomes) has the potential to unravel some of the developmental complexities leading to severe mental disorders. With respect to schizophrenia, the application of PRS approach to child-adolescent cohorts from the general population, provides a crucial vantage point for understanding how presumed genetic predisposition is manifested during developmental years. Clearly, this is essential for etiological research as well as for the timely identification of the earliest stages of those specific psychopathological trajectories leading to psychosis. Therefore, the translational import of the PRS approach could improve our etiopathogenetic understanding of schizophrenia (e.g., allowing the disentanglement of the respective contribution of genetic and environmental risk factors along neurodevelopment) and further refine current staging models for early detection of vulnerability to psychosis (e.g., providing the rationale for more developmentally oriented reformulations of clinical high-risk criteria). En ligne : http://dx.doi.org/10.1111/jcpp.12857 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368
in Journal of Child Psychology and Psychiatry > 59-7 (July 2018) . - p.822-825[article] Editorial Perspective: From schizophrenia polygenic risk score to vulnerability (endo-)phenotypes: translational pathways in child and adolescent mental health [Texte imprimé et/ou numérique] / M. POLETTI, Auteur ; A. RABALLO, Auteur . - p.822-825.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 59-7 (July 2018) . - p.822-825
Mots-clés : Schizophrenia development phenotype polygenic risk score psychopathology vulnerability Index. décimale : PER Périodiques Résumé : The Polygenic Risk Scores (PRS) approach is becoming increasingly prominent in psycho-behavioral research, however, its translational potential is still relatively underconceptualized. Indeed, PRS paradigm (which capitalizes on the combination of multiple genetic markers into a single proxy score to predict lifetime outcomes) has the potential to unravel some of the developmental complexities leading to severe mental disorders. With respect to schizophrenia, the application of PRS approach to child-adolescent cohorts from the general population, provides a crucial vantage point for understanding how presumed genetic predisposition is manifested during developmental years. Clearly, this is essential for etiological research as well as for the timely identification of the earliest stages of those specific psychopathological trajectories leading to psychosis. Therefore, the translational import of the PRS approach could improve our etiopathogenetic understanding of schizophrenia (e.g., allowing the disentanglement of the respective contribution of genetic and environmental risk factors along neurodevelopment) and further refine current staging models for early detection of vulnerability to psychosis (e.g., providing the rationale for more developmentally oriented reformulations of clinical high-risk criteria). En ligne : http://dx.doi.org/10.1111/jcpp.12857 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism / Diana SCHENDEL in Autism Research, 15-1 (January 2022)
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Titre : Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism Type de document : Texte imprimé et/ou numérique Auteurs : Diana SCHENDEL, Auteur ; T. MUNK LAURSEN, Auteur ; C. ALBIÑANA, Auteur ; B. VILHJALMSSON, Auteur ; Christine LADD-ACOSTA, Auteur ; M. D. FALLIN, Auteur ; Kelly S. BENKE, Auteur ; B. LEE, Auteur ; J. GROVE, Auteur ; Amy E. KALKBRENNER, Auteur ; L. EJLSKOV, Auteur ; D. HOUGAARD, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; M. BAEKVAD-HANSEN, Auteur ; A. D. BØRGLUM, Auteur ; T. WERGE, Auteur ; M. NORDENTOFT, Auteur ; P. B. MORTENSEN, Auteur ; E. AGERBO, Auteur Article en page(s) : p.171-182 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder/genetics Case-Control Studies Humans Multifactorial Inheritance/genetics Risk Factors Siblings autism spectrum disorder case-control studies family history genetic risk factors polygenic risk score Index. décimale : PER Périodiques Résumé : Psychiatric family history or a high autism polygenic risk score (PRS) have been separately linked to autism spectrum disorder (ASD) risk. The study aimed to simultaneously consider psychiatric family history and individual autism genetic liability (PRS) in autism risk. We performed a case-control study of all Denmark singleton births, May 1981-December 2005, in Denmark at their first birthday and a known mother. Cases were diagnosed with ASD before 2013 and controls comprised a random sample of 30,000 births without ASD, excluding persons with non-Denmark-born parents, missing ASD PRS, non-European ancestry. Adjusted odds ratios (aOR) were estimated for ASD by PRS decile and by psychiatric history in parents or full siblings (8 mutually-exclusive categories) using logistic regression. Adjusted ASD PRS z-score least-squares means were estimated by psychiatric family history category. ASD risk (11,339 ASD cases; 20,175 controls) from ASD PRS was not substantially altered after accounting for psychiatric family history (e.g., ASD PRS 10th decile aOR: 2.35 (95% CI 2.11-2.63) before vs 2.11 (95% CI 1.91-2.40) after adjustment) nor from psychiatric family history after accounting for ASD PRS (e.g., ASD family history aOR: 6.73 (95% CI 5.89-7.68) before vs 6.32 (95% CI 5.53-7.22) after adjustment). ASD risk from ASD PRS varied slightly by psychiatric family history. While ASD risk from psychiatric family history was not accounted for by ASD PRS and vice versa, risk overlap between the two factors will likely increase as measures of genetic risk improve. The two factors are best viewed as complementary measures of family-based autism risk. LAY SUMMARY: Autism risk from a history of mental disorders in the immediate family was not explained by a measure of individual genetic risk (autism polygenic risk score) and vice versa. That is, genetic risk did not appear to overlap family history risk. As genetic measures for autism improve then the overlap in autism risk from family history versus genetic factors will likely increase, but further study may be needed to fully determine the components of risk and how they are inter-related between these key family factors. Meanwhile, the two factors may be best viewed as complementary measures of autism family-based risk. En ligne : http://dx.doi.org/10.1002/aur.2629 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450
in Autism Research > 15-1 (January 2022) . - p.171-182[article] Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism [Texte imprimé et/ou numérique] / Diana SCHENDEL, Auteur ; T. MUNK LAURSEN, Auteur ; C. ALBIÑANA, Auteur ; B. VILHJALMSSON, Auteur ; Christine LADD-ACOSTA, Auteur ; M. D. FALLIN, Auteur ; Kelly S. BENKE, Auteur ; B. LEE, Auteur ; J. GROVE, Auteur ; Amy E. KALKBRENNER, Auteur ; L. EJLSKOV, Auteur ; D. HOUGAARD, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; M. BAEKVAD-HANSEN, Auteur ; A. D. BØRGLUM, Auteur ; T. WERGE, Auteur ; M. NORDENTOFT, Auteur ; P. B. MORTENSEN, Auteur ; E. AGERBO, Auteur . - p.171-182.
Langues : Anglais (eng)
in Autism Research > 15-1 (January 2022) . - p.171-182
Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder/genetics Case-Control Studies Humans Multifactorial Inheritance/genetics Risk Factors Siblings autism spectrum disorder case-control studies family history genetic risk factors polygenic risk score Index. décimale : PER Périodiques Résumé : Psychiatric family history or a high autism polygenic risk score (PRS) have been separately linked to autism spectrum disorder (ASD) risk. The study aimed to simultaneously consider psychiatric family history and individual autism genetic liability (PRS) in autism risk. We performed a case-control study of all Denmark singleton births, May 1981-December 2005, in Denmark at their first birthday and a known mother. Cases were diagnosed with ASD before 2013 and controls comprised a random sample of 30,000 births without ASD, excluding persons with non-Denmark-born parents, missing ASD PRS, non-European ancestry. Adjusted odds ratios (aOR) were estimated for ASD by PRS decile and by psychiatric history in parents or full siblings (8 mutually-exclusive categories) using logistic regression. Adjusted ASD PRS z-score least-squares means were estimated by psychiatric family history category. ASD risk (11,339 ASD cases; 20,175 controls) from ASD PRS was not substantially altered after accounting for psychiatric family history (e.g., ASD PRS 10th decile aOR: 2.35 (95% CI 2.11-2.63) before vs 2.11 (95% CI 1.91-2.40) after adjustment) nor from psychiatric family history after accounting for ASD PRS (e.g., ASD family history aOR: 6.73 (95% CI 5.89-7.68) before vs 6.32 (95% CI 5.53-7.22) after adjustment). ASD risk from ASD PRS varied slightly by psychiatric family history. While ASD risk from psychiatric family history was not accounted for by ASD PRS and vice versa, risk overlap between the two factors will likely increase as measures of genetic risk improve. The two factors are best viewed as complementary measures of family-based autism risk. LAY SUMMARY: Autism risk from a history of mental disorders in the immediate family was not explained by a measure of individual genetic risk (autism polygenic risk score) and vice versa. That is, genetic risk did not appear to overlap family history risk. As genetic measures for autism improve then the overlap in autism risk from family history versus genetic factors will likely increase, but further study may be needed to fully determine the components of risk and how they are inter-related between these key family factors. Meanwhile, the two factors may be best viewed as complementary measures of autism family-based risk. En ligne : http://dx.doi.org/10.1002/aur.2629 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families / Sonja LABIANCA in Journal of Autism and Developmental Disorders, 51-1 (January 2021)
[article]
Titre : Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families Type de document : Texte imprimé et/ou numérique Auteurs : Sonja LABIANCA, Auteur ; Jette LABIANCA, Auteur ; Anne Katrine PAGSBERG, Auteur ; Klaus Damgaard JAKOBSEN, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Thomas WERGE, Auteur Article en page(s) : p.276-285 Langues : Anglais (eng) Mots-clés : Attention deficit/hyperactivity disorder Autism spectrum disorder Comorbidity Copy number variants Families Polygenic risk score Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two. En ligne : http://dx.doi.org/10.1007/s10803-020-04552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=437
in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.276-285[article] Copy Number Variants and Polygenic Risk Scores Predict Need of Care in Autism and/or ADHD Families [Texte imprimé et/ou numérique] / Sonja LABIANCA, Auteur ; Jette LABIANCA, Auteur ; Anne Katrine PAGSBERG, Auteur ; Klaus Damgaard JAKOBSEN, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Thomas WERGE, Auteur . - p.276-285.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-1 (January 2021) . - p.276-285
Mots-clés : Attention deficit/hyperactivity disorder Autism spectrum disorder Comorbidity Copy number variants Families Polygenic risk score Index. décimale : PER Périodiques Résumé : Autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are highly heritable neurodevelopmental disorders that frequently co-occur. Both rare and common genetic variants are important for ASD and ADHD risk but their combined contribution to clinical heterogeneity is unclear. In a sample of 39 ASD and/or ADHD families we estimated the overall variance explained by known rare copy number variants (CNVs) and polygenic risk score (PRS) from common variants to be 10% in comorbid ASD/ADHD, 4% in ASD and 2% in ADHD. We show that burden of large, rare CNVs and PRS is significantly higher in adult ASD and/or ADHD patients with sustained need for specialist care compared to their unaffected relatives, while affected relatives fall in-between the two. En ligne : http://dx.doi.org/10.1007/s10803-020-04552-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=437 Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk / Ron NUDEL in Autism Research, 13-3 (March 2020)
[article]
Titre : Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk Type de document : Texte imprimé et/ou numérique Auteurs : Ron NUDEL, Auteur ; Camilla A. J. CHRISTIANI, Auteur ; Jessica OHLAND, Auteur ; Md Jamal UDDIN, Auteur ; Nicoline HEMAGER, Auteur ; Ditte ELLERSGAARD, Auteur ; Katrine S. SPANG, Auteur ; Birgitte K. BURTON, Auteur ; Aja N. GREVE, Auteur ; Ditte L. GANTRIIS, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Jens Richardt MØLLEGAARD JEPSEN, Auteur ; Anne A. E. THORUP, Auteur ; Ole MORS, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur Article en page(s) : p.369-381 Langues : Anglais (eng) Mots-clés : attention deficit hyperactivity disorder autism spectrum disorder genome-wide association study polygenic risk score specific language impairment Index. décimale : PER Périodiques Résumé : Language is one of the cognitive domains often impaired across many neurodevelopmental disorders. While for some disorders the linguistic deficit is the primary impairment (e.g., specific language impairment, SLI), for others it may accompany broader behavioral problems (e.g., autism). The precise nature of this phenotypic overlap has been the subject of debate. Moreover, several studies have found genetic overlaps across neurodevelopmental disorders. This raises the question of whether these genetic overlaps may correlate with phenotypic overlaps and, if so, in what manner. Here, we apply a genome-wide approach to the study of the linguistic deficit in SLI, autism spectrum disorder (ASD), and attention deficit/hyperactivity disorder (ADHD). Using a discovery genome-wide association study of SLI, we generate polygenic risk scores (PRS) in an independent sample which includes children with language impairment, SLI, ASD or ADHD and age-matched controls and perform regression analyses across groups. The SLI-trained PRS significantly predicted risk in the SLI case-control group (adjusted R(2) = 6.24%; P = 0.024) but not in the ASD or ADHD case-control groups (adjusted R(2) = 0.0004%, 0.01%; P = 0.984, 0.889, respectively) nor for height, used as a negative control (R(2) = 0.2%; P = 0.452). Additionally, there was a significant difference in the normalized PRS between children with SLI and children with ASD (common language effect size = 0.66; P = 0.044). Our study suggests no additive common-variant genetic overlap between SLI and ASD and ADHD. This is discussed in the context of phenotypic studies of SLI and related disorders. Autism Res 2020, 13: 369-381. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Language deficits are characteristic of specific language impairment (SLI), but may also be found in other neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Many studies examined the overlaps and differences across the language deficits in these disorders, but few studies have examined the genetic aspect thereof. In this study, we use a genome-wide approach to evaluate whether common genetic variants increasing risk of SLI may also be associated with ASD and ADHD in the same manner. Our results suggest that this is not the case, and we discuss this finding in the context of theories concerning the etiologies of these disorders. En ligne : http://dx.doi.org/10.1002/aur.2211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421
in Autism Research > 13-3 (March 2020) . - p.369-381[article] Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk [Texte imprimé et/ou numérique] / Ron NUDEL, Auteur ; Camilla A. J. CHRISTIANI, Auteur ; Jessica OHLAND, Auteur ; Md Jamal UDDIN, Auteur ; Nicoline HEMAGER, Auteur ; Ditte ELLERSGAARD, Auteur ; Katrine S. SPANG, Auteur ; Birgitte K. BURTON, Auteur ; Aja N. GREVE, Auteur ; Ditte L. GANTRIIS, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Jens Richardt MØLLEGAARD JEPSEN, Auteur ; Anne A. E. THORUP, Auteur ; Ole MORS, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur . - p.369-381.
Langues : Anglais (eng)
in Autism Research > 13-3 (March 2020) . - p.369-381
Mots-clés : attention deficit hyperactivity disorder autism spectrum disorder genome-wide association study polygenic risk score specific language impairment Index. décimale : PER Périodiques Résumé : Language is one of the cognitive domains often impaired across many neurodevelopmental disorders. While for some disorders the linguistic deficit is the primary impairment (e.g., specific language impairment, SLI), for others it may accompany broader behavioral problems (e.g., autism). The precise nature of this phenotypic overlap has been the subject of debate. Moreover, several studies have found genetic overlaps across neurodevelopmental disorders. This raises the question of whether these genetic overlaps may correlate with phenotypic overlaps and, if so, in what manner. Here, we apply a genome-wide approach to the study of the linguistic deficit in SLI, autism spectrum disorder (ASD), and attention deficit/hyperactivity disorder (ADHD). Using a discovery genome-wide association study of SLI, we generate polygenic risk scores (PRS) in an independent sample which includes children with language impairment, SLI, ASD or ADHD and age-matched controls and perform regression analyses across groups. The SLI-trained PRS significantly predicted risk in the SLI case-control group (adjusted R(2) = 6.24%; P = 0.024) but not in the ASD or ADHD case-control groups (adjusted R(2) = 0.0004%, 0.01%; P = 0.984, 0.889, respectively) nor for height, used as a negative control (R(2) = 0.2%; P = 0.452). Additionally, there was a significant difference in the normalized PRS between children with SLI and children with ASD (common language effect size = 0.66; P = 0.044). Our study suggests no additive common-variant genetic overlap between SLI and ASD and ADHD. This is discussed in the context of phenotypic studies of SLI and related disorders. Autism Res 2020, 13: 369-381. (c) 2019 The Authors. Autism Research published by International Society for Autism Research published by Wiley Periodicals, Inc. LAY SUMMARY: Language deficits are characteristic of specific language impairment (SLI), but may also be found in other neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Many studies examined the overlaps and differences across the language deficits in these disorders, but few studies have examined the genetic aspect thereof. In this study, we use a genome-wide approach to evaluate whether common genetic variants increasing risk of SLI may also be associated with ASD and ADHD in the same manner. Our results suggest that this is not the case, and we discuss this finding in the context of theories concerning the etiologies of these disorders. En ligne : http://dx.doi.org/10.1002/aur.2211 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 SWAN scale for ADHD trait-based genetic research: a validity and polygenic risk study / C. L. BURTON in Journal of Child Psychology and Psychiatry, 60-9 (September 2019)
[article]
Titre : SWAN scale for ADHD trait-based genetic research: a validity and polygenic risk study Type de document : Texte imprimé et/ou numérique Auteurs : C. L. BURTON, Auteur ; L. WRIGHT, Auteur ; J. SHAN, Auteur ; B. XIAO, Auteur ; A. DUPUIS, Auteur ; T. GOODALE, Auteur ; S. M. SHAHEEN, Auteur ; E. C. CORFIELD, Auteur ; P. D. ARNOLD, Auteur ; Russell SCHACHAR, Auteur ; J. CROSBIE, Auteur Article en page(s) : p.988-997 Langues : Anglais (eng) Mots-clés : Adhd Swan polygenic risk score psychometric validity standardized norms Index. décimale : PER Périodiques Résumé : BACKGROUND: Population-based samples with valid, quantitative and genetically informative trait measures of psychopathology could be a powerful complement to case/control genetic designs. We report the convergent and predictive validity of the parent- and self-report versions of the Strengths and Weaknesses of ADHD Symptoms and Normal Behavior Rating Scale (SWAN). We tested if SWAN scores were associated with ADHD diagnosis, ADHD polygenic risk, as well as traits and polygenic risk for disorders that co-occur with ADHD: anxiety and obsessive-compulsive disorder (OCD). METHODS: We collected parent- and self-report SWAN scores in a sample of 15,560 children and adolescents (6-17 years) recruited at a science museum (Spit for Science sample). We established age and sex norms for the SWAN. Sensitivity-specificity analyses determined SWAN cut-points that discriminated those with and without a reported ADHD diagnosis. These cut-points were validated in a clinic sample (266 ADHD cases; 36 controls). Convergent validity was established using the Conners' parent- and self-report scales. Using Spit for Science participants with genome-wide data (n = 5,154), we tested if low, medium and high SWAN scores were associated with polygenic risk for ADHD, OCD and anxiety disorders. RESULTS: Parent- and self-report SWAN scores showed high convergent validity with Conners' scales and distinguished ADHD participants with high sensitivity and specificity in the Spit for Science sample. In a clinic sample, the Spit for Science cut-points discriminated ADHD cases from controls with a sensitivity of 84% and specificity of 92%. High SWAN scores and scores above the Spit for Science cut-points were significantly associated with polygenic risk for ADHD. SWAN scores were not associated with polygenic risk for OCD or anxiety disorders. CONCLUSIONS: Our study supports the validity of the parent- and self-report SWAN scales and their potential in ADHD population-based genetic research. En ligne : http://dx.doi.org/10.1111/jcpp.13032 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405
in Journal of Child Psychology and Psychiatry > 60-9 (September 2019) . - p.988-997[article] SWAN scale for ADHD trait-based genetic research: a validity and polygenic risk study [Texte imprimé et/ou numérique] / C. L. BURTON, Auteur ; L. WRIGHT, Auteur ; J. SHAN, Auteur ; B. XIAO, Auteur ; A. DUPUIS, Auteur ; T. GOODALE, Auteur ; S. M. SHAHEEN, Auteur ; E. C. CORFIELD, Auteur ; P. D. ARNOLD, Auteur ; Russell SCHACHAR, Auteur ; J. CROSBIE, Auteur . - p.988-997.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 60-9 (September 2019) . - p.988-997
Mots-clés : Adhd Swan polygenic risk score psychometric validity standardized norms Index. décimale : PER Périodiques Résumé : BACKGROUND: Population-based samples with valid, quantitative and genetically informative trait measures of psychopathology could be a powerful complement to case/control genetic designs. We report the convergent and predictive validity of the parent- and self-report versions of the Strengths and Weaknesses of ADHD Symptoms and Normal Behavior Rating Scale (SWAN). We tested if SWAN scores were associated with ADHD diagnosis, ADHD polygenic risk, as well as traits and polygenic risk for disorders that co-occur with ADHD: anxiety and obsessive-compulsive disorder (OCD). METHODS: We collected parent- and self-report SWAN scores in a sample of 15,560 children and adolescents (6-17 years) recruited at a science museum (Spit for Science sample). We established age and sex norms for the SWAN. Sensitivity-specificity analyses determined SWAN cut-points that discriminated those with and without a reported ADHD diagnosis. These cut-points were validated in a clinic sample (266 ADHD cases; 36 controls). Convergent validity was established using the Conners' parent- and self-report scales. Using Spit for Science participants with genome-wide data (n = 5,154), we tested if low, medium and high SWAN scores were associated with polygenic risk for ADHD, OCD and anxiety disorders. RESULTS: Parent- and self-report SWAN scores showed high convergent validity with Conners' scales and distinguished ADHD participants with high sensitivity and specificity in the Spit for Science sample. In a clinic sample, the Spit for Science cut-points discriminated ADHD cases from controls with a sensitivity of 84% and specificity of 92%. High SWAN scores and scores above the Spit for Science cut-points were significantly associated with polygenic risk for ADHD. SWAN scores were not associated with polygenic risk for OCD or anxiety disorders. CONCLUSIONS: Our study supports the validity of the parent- and self-report SWAN scales and their potential in ADHD population-based genetic research. En ligne : http://dx.doi.org/10.1111/jcpp.13032 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 Early manifestations of genetic risk for neurodevelopmental disorders / Ragna Bugge ASKELAND in Journal of Child Psychology and Psychiatry, 63-7 (July 2022)
PermalinkExamining 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)
PermalinkHow rare and common risk variation jointly affect liability for autism spectrum disorder / L. KLEI in Molecular Autism, 12 (2021)
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