2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study / L. MYERS in Journal of Autism and Developmental Disorders, 48-9 (September 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-9 (September 2018) . - p.3244-3252 Titre : 2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study Type de document : Texte imprimé et/ou numérique Auteurs : L. MYERS, Auteur ; A. VAN'T WESTEINDE, Auteur ; R. KUJA-HALKOLA, Auteur ; K. TAMMIMIES, Auteur ; Sven BÖLTE, Auteur Article en page(s) : p.3244-3252 Langues : Anglais (eng) Mots-clés : 2D:4D ratio  Adhd  Autism  Hormones  Neurodevelopmental disorders  Sex  Twins Index. décimale : PER Périodiques Résumé : The second to fourth digit (2D:4D) ratio is of interest in autism spectrum disorder (ASD). Studies on the relationship of this ratio with other neurodevelopmental disorders (NDDs) are lacking. Investigating the association between the ratio and NDDs in twins can provide insight into genetic and/or environmental factors driving the ratio. Hand images were collected in N = 238 twins with NDDs or typical development from 70 monozygotic and 49 dizygotic pairs to examine ratios and their associations to DSM-5 defined categorical NDDs, autistic traits, zygosity, and sex. There were small associations for males between the ratios and any NDD and ADHD diagnoses. Males had lower ratios than females. Future studies exploring the ratio alongside physical anomalies could provide etiological insight into NDDs. En ligne : http://dx.doi.org/10.1007/s10803-018-3588-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 [article] 2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study [Texte imprimé et/ou numérique] / L. MYERS, Auteur ; A. VAN'T WESTEINDE, Auteur ; R. KUJA-HALKOLA, Auteur ; K. TAMMIMIES, Auteur ; Sven BÖLTE, Auteur . - p.3244-3252. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-9 (September 2018) . - p.3244-3252 Mots-clés : 2D:4D ratio  Adhd  Autism  Hormones  Neurodevelopmental disorders  Sex  Twins Index. décimale : PER Périodiques Résumé : The second to fourth digit (2D:4D) ratio is of interest in autism spectrum disorder (ASD). Studies on the relationship of this ratio with other neurodevelopmental disorders (NDDs) are lacking. Investigating the association between the ratio and NDDs in twins can provide insight into genetic and/or environmental factors driving the ratio. Hand images were collected in N = 238 twins with NDDs or typical development from 70 monozygotic and 49 dizygotic pairs to examine ratios and their associations to DSM-5 defined categorical NDDs, autistic traits, zygosity, and sex. There were small associations for males between the ratios and any NDD and ADHD diagnoses. Males had lower ratios than females. Future studies exploring the ratio alongside physical anomalies could provide etiological insight into NDDs. En ligne : http://dx.doi.org/10.1007/s10803-018-3588-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368

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

Reproductive stoppage in autism spectrum disorder in a population of 2.5 million individuals / R. KUJA-HALKOLA in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 45 p. Titre : Reproductive stoppage in autism spectrum disorder in a population of 2.5 million individuals Type de document : Texte imprimé et/ou numérique Auteurs : R. KUJA-HALKOLA, Auteur ; H. LARSSON, Auteur ; S. LUNDSTRÖM, Auteur ; S. SANDIN, Auteur ; A. CHIZARIFARD, Auteur ; Sven BÖLTE, Auteur ; P. LICHTENSTEIN, Auteur ; E. FRANS, Auteur Article en page(s) : 45 p. Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorder  Fecundity  Reproduction  Reproductive stoppage Index. décimale : PER Périodiques Résumé : Background: It has been suggested that parents of children with autism spectrum disorder (ASD) curtail their reproduction, a phenomenon known as reproductive stoppage. To investigate the presence of reproductive stoppage, we followed the reproduction in mothers of children with or without an ASD diagnosis using Swedish population-based registries. Methods: We followed all families with first child born in 1987 or later. In total 2,521,103 children, nested within 1,270,017 mothers, were included. Exposure was presence of ASD diagnosis in earlier born siblings, and outcome was considered as (1) inter-pregnancy interval and (2) number of subsequent children. Results: Analyses of inter-pregnancy intervals showed that the association differed across birth orders, with a lower rate of second children when first child had ASD diagnosis, but an increased rate of third and higher birth orders in families where a previous child had an ASD diagnosis. When all birth orders were simultaneously considered, families with a child with an ASD diagnosis were less likely to have another child (hazard ratio (HR), 0.79; 95% confidence interval [95% CI], 0.78-0.80). However, when adjusted for birth order, the association was close to null (HR, 0.97; 95% CI, 0.96-0.99), and after additional adjustments (maternal age, birth period, sex, paternal age, and maternal education), the association disappeared (HR, 1.00; 95% CI, 0.99-1.02). In analyses of subsequent children, after adjustment for covariates, families with an ASD diagnosis had 4% more subsequent children (rate ratio, 1.04; 95% CI, 1.03-1.05). Limitations: The study was undertaken in a country with largely tax-funded healthcare; results may not generalize to other societies. Following the current dominating umbrella concept of ASD, we did not differentiate between the ASD sub-diagnoses; it is possible that reproductive patterns can be dependent on ASD subtypes and the severity and composition of ASD phenotypes and comorbidities. Conclusions: This study does not support a universal reproductive stoppage effect in ASD families, when birth order and other factors are considered. Therefore, proper attention to birth order and other factors may alleviate potential bias in familial aggregation studies of ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0300-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Reproductive stoppage in autism spectrum disorder in a population of 2.5 million individuals [Texte imprimé et/ou numérique] / R. KUJA-HALKOLA, Auteur ; H. LARSSON, Auteur ; S. LUNDSTRÖM, Auteur ; S. SANDIN, Auteur ; A. CHIZARIFARD, Auteur ; Sven BÖLTE, Auteur ; P. LICHTENSTEIN, Auteur ; E. FRANS, Auteur . - 45 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 45 p. Mots-clés : Autism  Autism spectrum disorder  Fecundity  Reproduction  Reproductive stoppage Index. décimale : PER Périodiques Résumé : Background: It has been suggested that parents of children with autism spectrum disorder (ASD) curtail their reproduction, a phenomenon known as reproductive stoppage. To investigate the presence of reproductive stoppage, we followed the reproduction in mothers of children with or without an ASD diagnosis using Swedish population-based registries. Methods: We followed all families with first child born in 1987 or later. In total 2,521,103 children, nested within 1,270,017 mothers, were included. Exposure was presence of ASD diagnosis in earlier born siblings, and outcome was considered as (1) inter-pregnancy interval and (2) number of subsequent children. Results: Analyses of inter-pregnancy intervals showed that the association differed across birth orders, with a lower rate of second children when first child had ASD diagnosis, but an increased rate of third and higher birth orders in families where a previous child had an ASD diagnosis. When all birth orders were simultaneously considered, families with a child with an ASD diagnosis were less likely to have another child (hazard ratio (HR), 0.79; 95% confidence interval [95% CI], 0.78-0.80). However, when adjusted for birth order, the association was close to null (HR, 0.97; 95% CI, 0.96-0.99), and after additional adjustments (maternal age, birth period, sex, paternal age, and maternal education), the association disappeared (HR, 1.00; 95% CI, 0.99-1.02). In analyses of subsequent children, after adjustment for covariates, families with an ASD diagnosis had 4% more subsequent children (rate ratio, 1.04; 95% CI, 1.03-1.05). Limitations: The study was undertaken in a country with largely tax-funded healthcare; results may not generalize to other societies. Following the current dominating umbrella concept of ASD, we did not differentiate between the ASD sub-diagnoses; it is possible that reproductive patterns can be dependent on ASD subtypes and the severity and composition of ASD phenotypes and comorbidities. Conclusions: This study does not support a universal reproductive stoppage effect in ASD families, when birth order and other factors are considered. Therefore, proper attention to birth order and other factors may alleviate potential bias in familial aggregation studies of ASD. En ligne : http://dx.doi.org/10.1186/s13229-019-0300-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Sex differences in brain structure: a twin study on restricted and repetitive behaviors in twin pairs with and without autism / A. VAN'T WESTEINDE in Molecular Autism, 11 (2020)  

Public ISBD [article]  inMolecular Autism > 11 (2020) . - 1 p. Titre : Sex differences in brain structure: a twin study on restricted and repetitive behaviors in twin pairs with and without autism Type de document : Texte imprimé et/ou numérique Auteurs : A. VAN'T WESTEINDE, Auteur ; Elodie CAUVET, Auteur ; R. TORO, Auteur ; R. KUJA-HALKOLA, Auteur ; J. NEUFELD, Auteur ; K. MEVEL, Auteur ; Sven BÖLTE, Auteur Article en page(s) : 1 p. Langues : Anglais (eng) Mots-clés : Autism  Neuroanatomy  Repetitive behaviors  Sex differences  Twins Index. décimale : PER Périodiques Résumé : Background: Females with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex-specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. Methods: In 75 twin pairs (n = 150, 62 females, 88 males) enriched for autism spectrum disorder (n = 32), and other neurodevelopmental disorders (n = 32), we explored the association of restricted and repetitive behaviors and interests-operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale)-with cortical volume, surface area and thickness of neocortical, sub-cortical, and cerebellar networks. Results: Co-twin control analyses revealed within-pair associations between RRBI symptoms and increased thickness of the right intraparietal sulcus and reduced volume of the right orbital gyrus in females only, even though the mean number of RRBIs did not differ between the sexes. In a sub-sample of ASD-discordant pairs, increased thickness in association with RRBIs was found exclusively in females in the orbitofrontal regions, superior frontal gyrus, and intraparietal sulcus, while in males RRBIs tended to be associated with increased volume of the bilateral pallidum. Limitations: However, due to a small sample size and the small difference in RRBI symptoms within pairs, the results of this exploratory study need to be interpreted with caution. Conclusions: Our findings suggest that structural alterations of fronto-parietal networks in association with RRBIs are found mostly in females, while striatal networks are more affected in males. These results endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males. En ligne : http://dx.doi.org/10.1186/s13229-019-0309-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414 [article] Sex differences in brain structure: a twin study on restricted and repetitive behaviors in twin pairs with and without autism [Texte imprimé et/ou numérique] / A. VAN'T WESTEINDE, Auteur ; Elodie CAUVET, Auteur ; R. TORO, Auteur ; R. KUJA-HALKOLA, Auteur ; J. NEUFELD, Auteur ; K. MEVEL, Auteur ; Sven BÖLTE, Auteur . - 1 p. Langues : Anglais (eng) in Molecular Autism > 11 (2020) . - 1 p. Mots-clés : Autism  Neuroanatomy  Repetitive behaviors  Sex differences  Twins Index. décimale : PER Périodiques Résumé : Background: Females with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex-specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. Methods: In 75 twin pairs (n = 150, 62 females, 88 males) enriched for autism spectrum disorder (n = 32), and other neurodevelopmental disorders (n = 32), we explored the association of restricted and repetitive behaviors and interests-operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale)-with cortical volume, surface area and thickness of neocortical, sub-cortical, and cerebellar networks. Results: Co-twin control analyses revealed within-pair associations between RRBI symptoms and increased thickness of the right intraparietal sulcus and reduced volume of the right orbital gyrus in females only, even though the mean number of RRBIs did not differ between the sexes. In a sub-sample of ASD-discordant pairs, increased thickness in association with RRBIs was found exclusively in females in the orbitofrontal regions, superior frontal gyrus, and intraparietal sulcus, while in males RRBIs tended to be associated with increased volume of the bilateral pallidum. Limitations: However, due to a small sample size and the small difference in RRBI symptoms within pairs, the results of this exploratory study need to be interpreted with caution. Conclusions: Our findings suggest that structural alterations of fronto-parietal networks in association with RRBIs are found mostly in females, while striatal networks are more affected in males. These results endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males. En ligne : http://dx.doi.org/10.1186/s13229-019-0309-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=414

Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study / J. ISAKSSON in Journal of Autism and Developmental Disorders, 49-7 (July 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-7 (July 2019) . - p.2838-2848 Titre : Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study Type de document : Texte imprimé et/ou numérique Auteurs : J. ISAKSSON, Auteur ; A. VAN'T WESTEINDE, Auteur ; Elodie CAUVET, Auteur ; R. KUJA-HALKOLA, Auteur ; K. LUNDIN, Auteur ; J. NEUFELD, Auteur ; C. WILLFORS, Auteur ; Sven BÖLTE, Auteur Article en page(s) : p.2838-2848 Langues : Anglais (eng) Mots-clés : Adhd  Autism spectrum disorder  Movie for the assessment of social cognition  Ratss  Twins Index. décimale : PER Périodiques Résumé : Alterations in social cognition (SC) are hypothesized to underlie social communication and interaction challenges in autism spectrum disorder (ASD). The aetiological underpinnings driving this association remain unclear. We examined SC in 196 twins with ASD, other neurodevelopmental disorders or typical development using the naturalistic Movie for the Assessment of Social Cognition. Autism and its severity were assessed with the Autism Diagnostic Observation Schedule-2, and autistic traits with the Social Responsiveness Scale-2. Using within twin-pair regression models, controlling for age, sex, IQ, and unmeasured familial confounders such as genetic background and shared-environment, SC correlated with ASD diagnosis, autism severity, and autistic traits. Our findings highlight the importance of SC alterations in autism and suggest a non-shared environmental impact on the association. En ligne : http://dx.doi.org/10.1007/s10803-019-04001-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402 [article] Social Cognition in Autism and Other Neurodevelopmental Disorders: A Co-twin Control Study [Texte imprimé et/ou numérique] / J. ISAKSSON, Auteur ; A. VAN'T WESTEINDE, Auteur ; Elodie CAUVET, Auteur ; R. KUJA-HALKOLA, Auteur ; K. LUNDIN, Auteur ; J. NEUFELD, Auteur ; C. WILLFORS, Auteur ; Sven BÖLTE, Auteur . - p.2838-2848. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-7 (July 2019) . - p.2838-2848 Mots-clés : Adhd  Autism spectrum disorder  Movie for the assessment of social cognition  Ratss  Twins Index. décimale : PER Périodiques Résumé : Alterations in social cognition (SC) are hypothesized to underlie social communication and interaction challenges in autism spectrum disorder (ASD). The aetiological underpinnings driving this association remain unclear. We examined SC in 196 twins with ASD, other neurodevelopmental disorders or typical development using the naturalistic Movie for the Assessment of Social Cognition. Autism and its severity were assessed with the Autism Diagnostic Observation Schedule-2, and autistic traits with the Social Responsiveness Scale-2. Using within twin-pair regression models, controlling for age, sex, IQ, and unmeasured familial confounders such as genetic background and shared-environment, SC correlated with ASD diagnosis, autism severity, and autistic traits. Our findings highlight the importance of SC alterations in autism and suggest a non-shared environmental impact on the association. En ligne : http://dx.doi.org/10.1007/s10803-019-04001-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=402

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