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Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome / S. S. HALL in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
[article]
Titre : Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur Article en page(s) : p.16-27 Langues : Anglais (eng) Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27[article] Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome [Texte imprimé et/ou numérique] / S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur . - p.16-27.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27
Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 Empathic Accuracy in Adolescent Girls with Turner Syndrome / M. KLABUNDE in Journal of Autism and Developmental Disorders, 52-5 (May 2022)
[article]
Titre : Empathic Accuracy in Adolescent Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. KLABUNDE, Auteur ; A. PICCIRILLI, Auteur ; J. BRUNO, Auteur ; M. GENDRON, Auteur ; A. L. REISS, Auteur Article en page(s) : p.2203-2212 Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder Child Empathy Female Humans Male Psychomotor Performance Turner Syndrome/psychology Social cognition and neurogenetic disorders Theory of mind Turner syndrome Index. décimale : PER Périodiques Résumé : To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-05089-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2203-2212[article] Empathic Accuracy in Adolescent Girls with Turner Syndrome [Texte imprimé et/ou numérique] / M. KLABUNDE, Auteur ; A. PICCIRILLI, Auteur ; J. BRUNO, Auteur ; M. GENDRON, Auteur ; A. L. REISS, Auteur . - p.2203-2212.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2203-2212
Mots-clés : Adolescent Autism Spectrum Disorder Child Empathy Female Humans Male Psychomotor Performance Turner Syndrome/psychology Social cognition and neurogenetic disorders Theory of mind Turner syndrome Index. décimale : PER Périodiques Résumé : To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-05089-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies / T. GREEN in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies Type de document : Texte imprimé et/ou numérique Auteurs : T. GREEN, Auteur ; P. E. NAYLOR, Auteur ; W. DAVIES, Auteur Article en page(s) : p.25 Langues : Anglais (eng) Mots-clés : Attention deficit hyperactivity disorder Neurofibromatosis type 1 Noonan syndrome RASopathies Turner syndrome X chromosome Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. MAIN BODY: To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD. CONCLUSION: We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD. En ligne : http://dx.doi.org/10.1186/s11689-017-9205-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25[article] Attention deficit hyperactivity disorder (ADHD) in phenotypically similar neurogenetic conditions: Turner syndrome and the RASopathies [Texte imprimé et/ou numérique] / T. GREEN, Auteur ; P. E. NAYLOR, Auteur ; W. DAVIES, Auteur . - p.25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.25
Mots-clés : Attention deficit hyperactivity disorder Neurofibromatosis type 1 Noonan syndrome RASopathies Turner syndrome X chromosome Index. décimale : PER Périodiques Résumé : BACKGROUND: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. MAIN BODY: To address this premise, we selected two neurogenetic conditions that are associated with significantly increased ADHD risk: Turner syndrome and the RASopathies (of which Noonan syndrome and neurofibromatosis type 1 are the best-defined with regard to ADHD-related phenotypes). These syndromes were chosen for two main reasons: first, because intellectual functioning is relatively preserved, and second, because they are strikingly phenotypically similar but are etiologically distinct. We review the cognitive, behavioural, neural and cellular phenotypes associated with these conditions and examine their relevance as a model for idiopathic ADHD. CONCLUSION: We conclude by discussing current and future opportunities in the clinical and basic research of these conditions, which, in turn, may shed light upon the biological pathways underlying idiopathic ADHD. En ligne : http://dx.doi.org/10.1186/s11689-017-9205-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 Overlap of autism and conditions associated with atypical sex hormone levels or response: A systematic review and meta-analysis / Tamara MAY in Research in Autism Spectrum Disorders, 80 (February 2021)
[article]
Titre : Overlap of autism and conditions associated with atypical sex hormone levels or response: A systematic review and meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : Tamara MAY, Auteur ; Karen Lee Jing YI, Auteur ; Kate L. LOVELAND, Auteur ; Beverley VOLLENHOVEN, Auteur ; Katrina WILLIAMS, Auteur Article en page(s) : p.101693 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Hormones Polycystic ovarian syndrome Congenital adrenal hyperplasia Klinefelter syndrome Turner syndrome Hypospadias Cryptorchidism Hirsutism Index. décimale : PER Périodiques Résumé : Background This review explored any altered risk of Autism Spectrum Disorder (ASD) associated with conditions with a known or postulated atypical exposure to androgens and oestrogens in early fetal development, and conditions associated with atypical hormone levels and responses within an individual. Method Searches of Ovid Medline, PsychInfo and PubMed were completed until November 2019 with inclusion criteria of cohort, case control or clinical studies exploring the overlap of ASD with hormone-related conditions. Results Of 2640 studies, 49 met inclusion criteria exploring: Polycystic ovarian syndrome (PCOS), Klinefelter Syndrome, Turner Syndrome, Congenital Adrenal Hyperplasia (CAH), cryptorchidism, hypospadias, hirsutism; ovarian, uterine, testicular, cervical cancer; hypergonadotropic hypogonadism. Half had low risk of bias, with confidence in findings ranging from Very Low to Moderate, with all studies observational. Meta-analyses indicated 5 of 23 analyses had significant associations; with significantly increased odds of ASD in women with PCOS 1.48 [95 % CI 1.21–1.80], ASD in offspring of mothers with PCOS 1.53 [95 % CI 1.37–1.72]; but no increased odds of ASD in women with CAH, hirsutism or cancer. In conditions associated with reduced androgens, meta-analyses found an unexpected increased odds of ASD in hypospadias 1.38 [95 % CI 1.07–1.77], cryptorchidism 1.38 [95 % CI 1.11–1.71], and Klinefelter syndrome 6.39 [95 % CI 4.21–9.71]. Conclusion The androgen hypothesis was supported by 2 of 25 outcomes with 4 outcomes having opposite findings. Other complex factors are likely involved including genetic influences which may override simple sex hormone associations, as well as confounding pregnancy and birth factors inflating associations in some conditions. En ligne : https://doi.org/10.1016/j.rasd.2020.101693 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438
in Research in Autism Spectrum Disorders > 80 (February 2021) . - p.101693[article] Overlap of autism and conditions associated with atypical sex hormone levels or response: A systematic review and meta-analysis [Texte imprimé et/ou numérique] / Tamara MAY, Auteur ; Karen Lee Jing YI, Auteur ; Kate L. LOVELAND, Auteur ; Beverley VOLLENHOVEN, Auteur ; Katrina WILLIAMS, Auteur . - p.101693.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 80 (February 2021) . - p.101693
Mots-clés : Autism spectrum disorder Hormones Polycystic ovarian syndrome Congenital adrenal hyperplasia Klinefelter syndrome Turner syndrome Hypospadias Cryptorchidism Hirsutism Index. décimale : PER Périodiques Résumé : Background This review explored any altered risk of Autism Spectrum Disorder (ASD) associated with conditions with a known or postulated atypical exposure to androgens and oestrogens in early fetal development, and conditions associated with atypical hormone levels and responses within an individual. Method Searches of Ovid Medline, PsychInfo and PubMed were completed until November 2019 with inclusion criteria of cohort, case control or clinical studies exploring the overlap of ASD with hormone-related conditions. Results Of 2640 studies, 49 met inclusion criteria exploring: Polycystic ovarian syndrome (PCOS), Klinefelter Syndrome, Turner Syndrome, Congenital Adrenal Hyperplasia (CAH), cryptorchidism, hypospadias, hirsutism; ovarian, uterine, testicular, cervical cancer; hypergonadotropic hypogonadism. Half had low risk of bias, with confidence in findings ranging from Very Low to Moderate, with all studies observational. Meta-analyses indicated 5 of 23 analyses had significant associations; with significantly increased odds of ASD in women with PCOS 1.48 [95 % CI 1.21–1.80], ASD in offspring of mothers with PCOS 1.53 [95 % CI 1.37–1.72]; but no increased odds of ASD in women with CAH, hirsutism or cancer. In conditions associated with reduced androgens, meta-analyses found an unexpected increased odds of ASD in hypospadias 1.38 [95 % CI 1.07–1.77], cryptorchidism 1.38 [95 % CI 1.11–1.71], and Klinefelter syndrome 6.39 [95 % CI 4.21–9.71]. Conclusion The androgen hypothesis was supported by 2 of 25 outcomes with 4 outcomes having opposite findings. Other complex factors are likely involved including genetic influences which may override simple sex hormone associations, as well as confounding pregnancy and birth factors inflating associations in some conditions. En ligne : https://doi.org/10.1016/j.rasd.2020.101693 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=438