Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study / Tina Nørgaard MUNCH in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study Type de document : texte imprimé Auteurs : Tina Nørgaard MUNCH, Auteur ; Paula Louise HEDLEY, Auteur ; Christian Munch HAGEN, Auteur ; Marie BÆKVAD-HANSEN, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Jakob GROVE, Auteur ; Merete NORDENTOFT, Auteur ; Anders Dupont BØRGLUM, Auteur ; Preben Bo MORTENSEN, Auteur ; Thomas Mears WERGE, Auteur ; Mads MELBYE, Auteur ; David Michael HOUGAARD, Auteur ; Michael CHRISTIANSEN, Auteur Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Child  Cohort Studies  Denmark  Depressive Disorder, Major  Female  Humans  Hydrocephalus  Male  Autism spectrum disorder  Cohort, Congenital  Epidemiology Index. décimale : PER Périodiques Résumé : BACKGROUND: The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder and hydrocephalus may, at least in some cases, be two manifestations of a shared congenital brain pathology, we investigated the potential association between autism spectrum disorder and hydrocephalus in a large Danish population-based cohort. METHODS: Patients and controls were obtained from the Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH2012 case-cohort, which includes all patients with selected psychiatric disorders born in Denmark 1981-2005 along with randomly selected population controls (end of follow-up, December 31, 2016). The associations between individual psychiatric disorders and hydrocephalus were estimated using binary logistic regression with adjustment for age and sex. RESULTS: The cohort consisted of 86,571 individuals, of which 14,654 were diagnosed with autism spectrum disorder, 28,606 were population controls, and the remaining were diagnosed with other psychiatric disorders. We identified 201 hydrocephalus cases; 68 among autism spectrum disorder patients and 40 among controls (OR 3.77, 95% CI 2.48-5.78), which corresponds to an absolute risk of 0.46 % (i.e. approximately one in 217 children with autism spectrum disorder had co-occurring hydrocephalus). The autism spectrum disorder-hydrocephalus association was significant over the entire subgroup spectrum of autism spectrum disorder. CONCLUSIONS: Given the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder. En ligne : https://dx.doi.org/10.1186/s11689-021-09367-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Co-occurring hydrocephalus in autism spectrum disorder: a Danish population-based cohort study [texte imprimé] / Tina Nørgaard MUNCH, Auteur ; Paula Louise HEDLEY, Auteur ; Christian Munch HAGEN, Auteur ; Marie BÆKVAD-HANSEN, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Jakob GROVE, Auteur ; Merete NORDENTOFT, Auteur ; Anders Dupont BØRGLUM, Auteur ; Preben Bo MORTENSEN, Auteur ; Thomas Mears WERGE, Auteur ; Mads MELBYE, Auteur ; David Michael HOUGAARD, Auteur ; Michael CHRISTIANSEN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Autism Spectrum Disorder  Child  Cohort Studies  Denmark  Depressive Disorder, Major  Female  Humans  Hydrocephalus  Male  Autism spectrum disorder  Cohort, Congenital  Epidemiology Index. décimale : PER Périodiques Résumé : BACKGROUND: The association between autism spectrum disorder and hydrocephalus is not well understood, despite demonstrated links between autism spectrum disorder and cerebrospinal fluid abnormalities. Based on the hypothesis that autism spectrum disorder and hydrocephalus may, at least in some cases, be two manifestations of a shared congenital brain pathology, we investigated the potential association between autism spectrum disorder and hydrocephalus in a large Danish population-based cohort. METHODS: Patients and controls were obtained from the Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH2012 case-cohort, which includes all patients with selected psychiatric disorders born in Denmark 1981-2005 along with randomly selected population controls (end of follow-up, December 31, 2016). The associations between individual psychiatric disorders and hydrocephalus were estimated using binary logistic regression with adjustment for age and sex. RESULTS: The cohort consisted of 86,571 individuals, of which 14,654 were diagnosed with autism spectrum disorder, 28,606 were population controls, and the remaining were diagnosed with other psychiatric disorders. We identified 201 hydrocephalus cases; 68 among autism spectrum disorder patients and 40 among controls (OR 3.77, 95% CI 2.48-5.78), which corresponds to an absolute risk of 0.46 % (i.e. approximately one in 217 children with autism spectrum disorder had co-occurring hydrocephalus). The autism spectrum disorder-hydrocephalus association was significant over the entire subgroup spectrum of autism spectrum disorder. CONCLUSIONS: Given the considerable risk of hydrocephalus among patients with autism spectrum disorder, we suggest that patients with autism spectrum disorder should be evaluated for co-occurring hydrocephalus on a routine basis as timely neurosurgical intervention is important. Likewise, attention must be paid to traits of autism spectrum disorder in children with hydrocephalus. The results of this study call for future investigations on a potential shared aetiology between hydrocephalus and autism spectrum disorder, including the role abnormal CSF dynamics in the pathogenesis of autism spectrum disorder. En ligne : https://dx.doi.org/10.1186/s11689-021-09367-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants / Ron NUDEL in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants Type de document : texte imprimé Auteurs : Ron NUDEL, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09499-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Correction: Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants [texte imprimé] / Ron NUDEL, Auteur ; Vivek APPADURAI, Auteur ; Alfonso BUIL, Auteur ; Merete NORDENTOFT, Auteur ; Thomas WERGE, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Index. décimale : PER Périodiques En ligne : https://dx.doi.org/10.1186/s11689-023-09499-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

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)  

Public ISBD [article]  inAutism Research > 15-1 (January 2022) . - p.171-182 Titre : Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism Type de document : texte imprimé Auteurs : Diana SCHENDEL, Auteur ; Thomas MUNK LAURSEN, Auteur ; Clara ALBIÑANA, Auteur ; Bjarni VILHJALMSSON, Auteur ; Christine LADD-ACOSTA, Auteur ; M. Daniele FALLIN, Auteur ; Kelly S. BENKE, Auteur ; Brian K. LEE, Auteur ; Jakob GROVE, Auteur ; Amy E. KALKBRENNER, Auteur ; Linda EJLSKOV, Auteur ; David HOUGAARD, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Marie BAEKVAD-HANSEN, Auteur ; Anders D. BØRGLUM, Auteur ; Thomas WERGE, Auteur ; Merete NORDENTOFT, Auteur ; Preben Bo MORTENSEN, Auteur ; Esben 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 [article] Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism [texte imprimé] / Diana SCHENDEL, Auteur ; Thomas MUNK LAURSEN, Auteur ; Clara ALBIÑANA, Auteur ; Bjarni VILHJALMSSON, Auteur ; Christine LADD-ACOSTA, Auteur ; M. Daniele FALLIN, Auteur ; Kelly S. BENKE, Auteur ; Brian K. LEE, Auteur ; Jakob GROVE, Auteur ; Amy E. KALKBRENNER, Auteur ; Linda EJLSKOV, Auteur ; David HOUGAARD, Auteur ; Jonas BYBJERG-GRAUHOLM, Auteur ; Marie BAEKVAD-HANSEN, Auteur ; Anders D. BØRGLUM, Auteur ; Thomas WERGE, Auteur ; Merete NORDENTOFT, Auteur ; Preben Bo MORTENSEN, Auteur ; Esben 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

Experiences of helplessness and fear among caregivers diagnosed with severe mental illness and co-caregivers: The Danish High Risk and Resilience Study - VIA 7 / Sinnika Birkehøj ROHD in Development and Psychopathology, 35-3 (August 2023)  

Public ISBD [article]  inDevelopment and Psychopathology > 35-3 (August 2023) . - p.1540-1551 Titre : Experiences of helplessness and fear among caregivers diagnosed with severe mental illness and co-caregivers: The Danish High Risk and Resilience Study - VIA 7 Type de document : texte imprimé Auteurs : Sinnika Birkehøj ROHD, Auteur ; Carsten HJORTHØJ, Auteur ; Jessica OHLAND, Auteur ; Maja GREGERSEN, Auteur ; Nicoline HEMAGER, Auteur ; Anne SØNDERGAARD, Auteur ; Camilla Austa CHRISTIANI, Auteur ; Katrine Soeborg SPANG, Auteur ; Ditte ELLERSGAARD, Auteur ; Birgitte K. BURTON, Auteur ; Marianne MELAU, Auteur ; Aja GREVE, Auteur ; Ditte L. GANTRIIS, Auteur ; Jens Richardt Møllegaard JEPSEN, Auteur ; Kerstin J. PLESSEN, Auteur ; Ole MORS, Auteur ; Merete NORDENTOFT, Auteur ; Susanne HARDER, Auteur ; Anne Amalie Elgaard THORUP, Auteur Article en page(s) : p.1540-1551 Langues : Anglais (eng) Mots-clés : caregiving and child psychopathology  children at familial high risk  level of functioning  indicators of disorganized caregiving  parental mental illness Index. décimale : PER Périodiques Résumé : This study investigates indicators of disorganized caregiving among caregivers of children who have a familial predisposition of schizophrenia spectrum psychosis (SZ) or bipolar disorder (BP), and whether indicators of disorganized caregiving are associated with the caregivers' and children s level of functioning as well as the children s internalizing and externalizing behavior problems. Indicators of disorganized caregiving were assessed with the Caregiving Helplessness Questionnaire (CHQ). Level of functioning was evaluated using the Children s Global Assessment Scale and the Personal and Social Performance Scale, while dimensional psychopathology were measured with the Child Behavior Checklist. 185 caregivers belonging to a SZ combined group (i.e., SZ-I + SZ co-caregiver), 110 caregivers to a BP combined group (i.e., BP-I + BP co-caregiver), and 184 caregivers to a population-based control group provided data on CHQ. Having a history of SZ or BP or being a co-caregiver to a parent with SZ or BP was associated with higher levels of experiences of helplessness and fear. Higher scores on helplessness were associated with lower level of functioning among caregivers and children and with children having externalizing/internalizing behavior problems. These results emphasize the need for interventions addressing indicators of disorganized caregiving in families with SZ or BP. En ligne : http://dx.doi.org/10.1017/S0954579422000281 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511 [article] Experiences of helplessness and fear among caregivers diagnosed with severe mental illness and co-caregivers: The Danish High Risk and Resilience Study - VIA 7 [texte imprimé] / Sinnika Birkehøj ROHD, Auteur ; Carsten HJORTHØJ, Auteur ; Jessica OHLAND, Auteur ; Maja GREGERSEN, Auteur ; Nicoline HEMAGER, Auteur ; Anne SØNDERGAARD, Auteur ; Camilla Austa CHRISTIANI, Auteur ; Katrine Soeborg SPANG, Auteur ; Ditte ELLERSGAARD, Auteur ; Birgitte K. BURTON, Auteur ; Marianne MELAU, Auteur ; Aja GREVE, Auteur ; Ditte L. GANTRIIS, Auteur ; Jens Richardt Møllegaard JEPSEN, Auteur ; Kerstin J. PLESSEN, Auteur ; Ole MORS, Auteur ; Merete NORDENTOFT, Auteur ; Susanne HARDER, Auteur ; Anne Amalie Elgaard THORUP, Auteur . - p.1540-1551. Langues : Anglais (eng) in Development and Psychopathology > 35-3 (August 2023) . - p.1540-1551 Mots-clés : caregiving and child psychopathology  children at familial high risk  level of functioning  indicators of disorganized caregiving  parental mental illness Index. décimale : PER Périodiques Résumé : This study investigates indicators of disorganized caregiving among caregivers of children who have a familial predisposition of schizophrenia spectrum psychosis (SZ) or bipolar disorder (BP), and whether indicators of disorganized caregiving are associated with the caregivers' and children s level of functioning as well as the children s internalizing and externalizing behavior problems. Indicators of disorganized caregiving were assessed with the Caregiving Helplessness Questionnaire (CHQ). Level of functioning was evaluated using the Children s Global Assessment Scale and the Personal and Social Performance Scale, while dimensional psychopathology were measured with the Child Behavior Checklist. 185 caregivers belonging to a SZ combined group (i.e., SZ-I + SZ co-caregiver), 110 caregivers to a BP combined group (i.e., BP-I + BP co-caregiver), and 184 caregivers to a population-based control group provided data on CHQ. Having a history of SZ or BP or being a co-caregiver to a parent with SZ or BP was associated with higher levels of experiences of helplessness and fear. Higher scores on helplessness were associated with lower level of functioning among caregivers and children and with children having externalizing/internalizing behavior problems. These results emphasize the need for interventions addressing indicators of disorganized caregiving in families with SZ or BP. En ligne : http://dx.doi.org/10.1017/S0954579422000281 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=511

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)  

Public ISBD [article]  inAutism Research > 13-3 (March 2020) . - p.369-381 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 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 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 [article] Language deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk [texte imprimé] / 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 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

Mental disorders in preadolescent children at familial high-risk of schizophrenia or bipolar disorder - a four-year follow-up study: The Danish High Risk and Resilience Study, VIA 11: The Danish High Risk and Resilience Study, VIA 11 / Maja GREGERSEN in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)  

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Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants / Ron NUDEL in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Post-error adjustment among children aged 7 years with a familial high risk of schizophrenia or bipolar disorder: A population-based cohort study / Birgitte K. BURTON in Development and Psychopathology, 34-5 (December 2022)  

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Research Review: Do motor deficits during development represent an endophenotype for schizophrenia? A meta-analysis / Birgitte K. BURTON in Journal of Child Psychology and Psychiatry, 57-4 (April 2016)  

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