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Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits / M. ARENELLA in Autism, 26-2 (February 2022)
[article]
Titre : Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits Type de document : Texte imprimé et/ou numérique Auteurs : M. ARENELLA, Auteur ; G. CADBY, Auteur ; W. DE WITTE, Auteur ; R. M. JONES, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; E. K. MOSES, Auteur ; A. FORNITO, Auteur ; Mark A. BELLGROVE, Auteur ; Z. HAWI, Auteur ; B. JOHNSON, Auteur ; J. TIEGO, Auteur ; Jan K. BUITELAAR, Auteur ; L. A. KIEMENEY, Auteur ; G. POELMANS, Auteur ; Janita B. BRALTEN, Auteur Article en page(s) : p.361-372 Langues : Anglais (eng) Mots-clés : autism spectrum disorders genetics immune system molecular and cellular biology conflicts of interest with respect to the research, authorship and/or publication of this article: In the past 3?years, J.K.B. has been a consultant to, member of advisory board of and speaker for Takeda/Shire, Roche, Medice, Novartis, Angelini and Servier. He is not an employee of any of these companies, and a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patients and royalties. G.P. is the director of Drug Target ID, Ltd. The other authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. Therefore, we meta-analysed data from four different population cohorts in which autistic-like traits were measured. We performed a set of genetic analyses to identify common variants for autistic-like traits, understand how these variants related to autism spectrum disorders, and how they contribute to neurobiological processes. Our results showed genetic associations with specific autistic-like traits and a link to the immune system. We offer an example of the potential to use a dimensional approach when dealing with heterogeneous, complex disorder like autism spectrum disorder. Decomposing the complex autism spectrum disorder phenotype in its core features can inform on the specific biology of these features which is likely to account to clinical variability in patients. En ligne : http://dx.doi.org/10.1177/13623613211019547 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452
in Autism > 26-2 (February 2022) . - p.361-372[article] Potential role for immune-related genes in autism spectrum disorders: Evidence from genome-wide association meta-analysis of autistic traits [Texte imprimé et/ou numérique] / M. ARENELLA, Auteur ; G. CADBY, Auteur ; W. DE WITTE, Auteur ; R. M. JONES, Auteur ; Andrew J. O. WHITEHOUSE, Auteur ; E. K. MOSES, Auteur ; A. FORNITO, Auteur ; Mark A. BELLGROVE, Auteur ; Z. HAWI, Auteur ; B. JOHNSON, Auteur ; J. TIEGO, Auteur ; Jan K. BUITELAAR, Auteur ; L. A. KIEMENEY, Auteur ; G. POELMANS, Auteur ; Janita B. BRALTEN, Auteur . - p.361-372.
Langues : Anglais (eng)
in Autism > 26-2 (February 2022) . - p.361-372
Mots-clés : autism spectrum disorders genetics immune system molecular and cellular biology conflicts of interest with respect to the research, authorship and/or publication of this article: In the past 3?years, J.K.B. has been a consultant to, member of advisory board of and speaker for Takeda/Shire, Roche, Medice, Novartis, Angelini and Servier. He is not an employee of any of these companies, and a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patients and royalties. G.P. is the director of Drug Target ID, Ltd. The other authors declare no conflict of interest. Index. décimale : PER Périodiques Résumé : Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population. Therefore, we meta-analysed data from four different population cohorts in which autistic-like traits were measured. We performed a set of genetic analyses to identify common variants for autistic-like traits, understand how these variants related to autism spectrum disorders, and how they contribute to neurobiological processes. Our results showed genetic associations with specific autistic-like traits and a link to the immune system. We offer an example of the potential to use a dimensional approach when dealing with heterogeneous, complex disorder like autism spectrum disorder. Decomposing the complex autism spectrum disorder phenotype in its core features can inform on the specific biology of these features which is likely to account to clinical variability in patients. En ligne : http://dx.doi.org/10.1177/13623613211019547 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=452 Towards robust and replicable sex differences in the intrinsic brain function of autism / D. L. FLORIS in Molecular Autism, 12 (2021)
[article]
Titre : Towards robust and replicable sex differences in the intrinsic brain function of autism Type de document : Texte imprimé et/ou numérique Auteurs : D. L. FLORIS, Auteur ; J. O. A. FILHO, Auteur ; Meng-Chuan LAI, Auteur ; S. GIAVASIS, Auteur ; M. OLDEHINKEL, Auteur ; M. MENNES, Auteur ; Tony CHARMAN, Auteur ; J. TILLMANN, Auteur ; G. DUMAS, Auteur ; C. ECKER, Auteur ; F. DELL'ACQUA, Auteur ; Tobias BANASCHEWSKI, Auteur ; C. MOESSNANG, Auteur ; Simon BARON-COHEN, Auteur ; S. DURSTON, Auteur ; E. LOTH, Auteur ; D. G. M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Christian F. BECKMANN, Auteur ; M. P. MILHAM, Auteur ; A. DI MARTINO, Auteur Article en page(s) : 19 p. Langues : Anglais (eng) Mots-clés : Adolescent Autistic Disorder/diagnostic imaging/physiopathology Brain/diagnostic imaging/physiopathology Child Female Humans Magnetic Resonance Imaging Male Sex Characteristics Autism spectrum disorder Replication Resting-state functional connectivity Robustness Sex differences Voxel-mirrored homotopic connectivity Responsiveness Scale—Child Version by Organization Speciali, Italy. JKB has been a consultant to, advisory board member of, and a speaker for Takeda/Shire, Medice, Roche, and Servier. He is not an employee of any of these companies and not a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patents, or royalties. CFB is director and shareholder in SBGneuro Ltd. TC has received consultancy from Roche and Servier and received book royalties from Guildford Press and Sage. DM has been a consultant to, and advisory board member, for Roche and Servier. He is not an employee of any of these companies, and not a stock shareholder of any of these companies. TB served in an advisory or consultancy role for Lundbeck, Medice, Neurim Pharmaceuticals, Oberberg GmbH, Shire, and Infectopharm. He received conference support or speaker’s fee by Lilly, Medice, and Shire. He received royalties from Hogrefe, Kohlhammer, CIP Medien, Oxford University Press the present work is unrelated to these relationships. JT is a consultant to Roche. The remaining authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Marked sex differences in autism prevalence accentuate the need to understand the role of biological sex-related factors in autism. Efforts to unravel sex differences in the brain organization of autism have, however, been challenged by the limited availability of female data. METHODS: We addressed this gap by using a large sample of males and females with autism and neurotypical (NT) control individuals (ABIDE; Autism: 362 males, 82 females; NT: 409 males, 166 females; 7-18 years). Discovery analyses examined main effects of diagnosis, sex and their interaction across five resting-state fMRI (R-fMRI) metrics (voxel-level Z?>?3.1, cluster-level P?0.01, gaussian random field corrected). Secondary analyses assessed the robustness of the results to different pre-processing approaches and their replicability in two independent samples: the EU-AIMS Longitudinal European Autism Project (LEAP) and the Gender Explorations of Neurogenetics and Development to Advance Autism Research. RESULTS: Discovery analyses in ABIDE revealed significant main effects of diagnosis and sex across the intrinsic functional connectivity of the posterior cingulate cortex, regional homogeneity and voxel-mirrored homotopic connectivity (VMHC) in several cortical regions, largely converging in the default network midline. Sex-by-diagnosis interactions were confined to the dorsolateral occipital cortex, with reduced VMHC in females with autism. All findings were robust to different pre-processing steps. Replicability in independent samples varied by R-fMRI measures and effects with the targeted sex-by-diagnosis interaction being replicated in the larger of the two replication samples-EU-AIMS LEAP. LIMITATIONS: Given the lack of a priori harmonization among the discovery and replication datasets available to date, sample-related variation remained and may have affected replicability. CONCLUSIONS: Atypical cross-hemispheric interactions are neurobiologically relevant to autism. They likely result from the combination of sex-dependent and sex-independent factors with a differential effect across functional cortical networks. Systematic assessments of the factors contributing to replicability are needed and necessitate coordinated large-scale data collection across studies. En ligne : http://dx.doi.org/10.1186/s13229-021-00415-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 12 (2021) . - 19 p.[article] Towards robust and replicable sex differences in the intrinsic brain function of autism [Texte imprimé et/ou numérique] / D. L. FLORIS, Auteur ; J. O. A. FILHO, Auteur ; Meng-Chuan LAI, Auteur ; S. GIAVASIS, Auteur ; M. OLDEHINKEL, Auteur ; M. MENNES, Auteur ; Tony CHARMAN, Auteur ; J. TILLMANN, Auteur ; G. DUMAS, Auteur ; C. ECKER, Auteur ; F. DELL'ACQUA, Auteur ; Tobias BANASCHEWSKI, Auteur ; C. MOESSNANG, Auteur ; Simon BARON-COHEN, Auteur ; S. DURSTON, Auteur ; E. LOTH, Auteur ; D. G. M. MURPHY, Auteur ; Jan K. BUITELAAR, Auteur ; Christian F. BECKMANN, Auteur ; M. P. MILHAM, Auteur ; A. DI MARTINO, Auteur . - 19 p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 19 p.
Mots-clés : Adolescent Autistic Disorder/diagnostic imaging/physiopathology Brain/diagnostic imaging/physiopathology Child Female Humans Magnetic Resonance Imaging Male Sex Characteristics Autism spectrum disorder Replication Resting-state functional connectivity Robustness Sex differences Voxel-mirrored homotopic connectivity Responsiveness Scale—Child Version by Organization Speciali, Italy. JKB has been a consultant to, advisory board member of, and a speaker for Takeda/Shire, Medice, Roche, and Servier. He is not an employee of any of these companies and not a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patents, or royalties. CFB is director and shareholder in SBGneuro Ltd. TC has received consultancy from Roche and Servier and received book royalties from Guildford Press and Sage. DM has been a consultant to, and advisory board member, for Roche and Servier. He is not an employee of any of these companies, and not a stock shareholder of any of these companies. TB served in an advisory or consultancy role for Lundbeck, Medice, Neurim Pharmaceuticals, Oberberg GmbH, Shire, and Infectopharm. He received conference support or speaker’s fee by Lilly, Medice, and Shire. He received royalties from Hogrefe, Kohlhammer, CIP Medien, Oxford University Press the present work is unrelated to these relationships. JT is a consultant to Roche. The remaining authors declare no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: Marked sex differences in autism prevalence accentuate the need to understand the role of biological sex-related factors in autism. Efforts to unravel sex differences in the brain organization of autism have, however, been challenged by the limited availability of female data. METHODS: We addressed this gap by using a large sample of males and females with autism and neurotypical (NT) control individuals (ABIDE; Autism: 362 males, 82 females; NT: 409 males, 166 females; 7-18 years). Discovery analyses examined main effects of diagnosis, sex and their interaction across five resting-state fMRI (R-fMRI) metrics (voxel-level Z?>?3.1, cluster-level P?0.01, gaussian random field corrected). Secondary analyses assessed the robustness of the results to different pre-processing approaches and their replicability in two independent samples: the EU-AIMS Longitudinal European Autism Project (LEAP) and the Gender Explorations of Neurogenetics and Development to Advance Autism Research. RESULTS: Discovery analyses in ABIDE revealed significant main effects of diagnosis and sex across the intrinsic functional connectivity of the posterior cingulate cortex, regional homogeneity and voxel-mirrored homotopic connectivity (VMHC) in several cortical regions, largely converging in the default network midline. Sex-by-diagnosis interactions were confined to the dorsolateral occipital cortex, with reduced VMHC in females with autism. All findings were robust to different pre-processing steps. Replicability in independent samples varied by R-fMRI measures and effects with the targeted sex-by-diagnosis interaction being replicated in the larger of the two replication samples-EU-AIMS LEAP. LIMITATIONS: Given the lack of a priori harmonization among the discovery and replication datasets available to date, sample-related variation remained and may have affected replicability. CONCLUSIONS: Atypical cross-hemispheric interactions are neurobiologically relevant to autism. They likely result from the combination of sex-dependent and sex-independent factors with a differential effect across functional cortical networks. Systematic assessments of the factors contributing to replicability are needed and necessitate coordinated large-scale data collection across studies. En ligne : http://dx.doi.org/10.1186/s13229-021-00415-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 Parental Experiences with Early Identification and Initial Care for their Child with Autism: Tailored Improvement Strategies / Michelle I. J. SNIJDER in Journal of Autism and Developmental Disorders, 52-8 (August 2022)
[article]
Titre : Parental Experiences with Early Identification and Initial Care for their Child with Autism: Tailored Improvement Strategies Type de document : Texte imprimé et/ou numérique Auteurs : Michelle I. J. SNIJDER, Auteur ; Ilse P. C. LANGERAK, Auteur ; Shireen P. T. KAIJADOE, Auteur ; Marrit E. BURUMA, Auteur ; Rianne VERSCHUUR, Auteur ; Claudine DIETZ, Auteur ; Jan K. BUITELAAR, Auteur ; Iris J. OOSTERLING, Auteur Article en page(s) : p.3473-3485 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/therapy Autistic Disorder/diagnosis/therapy Child Early Diagnosis Humans Parents Risk Assessment Autism spectrum disorder Early detection Improvement strategies Parental experiences Preventive care board of/and/or speaker for Takeda/Shire, Roche, Medice, Angelini, Janssen, and Servier. He is not an employee of any of these companies, and not a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patents, royalties. Index. décimale : PER Périodiques Résumé : Whereas it is well documented how parents experience the diagnostic process of their child with autism spectrum disorder (ASD), less is known about parental experiences with the course of the early identification process and first steps in receiving care for their child with ASD symptoms. This mixed-method study investigated these experiences as well as barriers and improvement strategies regarding early detection in the Netherlands. A parental survey (N=45) showed that, on average, initial concerns started at 22Â months. A focus group (N=10) revealed multiple barriers and proposed strategies of improvement in three domains: "Knowledge and Expertise", "Attention to Parental Needs" and "System and Organization". Strategies to improve early identification will be discussed based on parental perspectives and professional perspectives. En ligne : http://dx.doi.org/10.1007/s10803-021-05226-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485
in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3473-3485[article] Parental Experiences with Early Identification and Initial Care for their Child with Autism: Tailored Improvement Strategies [Texte imprimé et/ou numérique] / Michelle I. J. SNIJDER, Auteur ; Ilse P. C. LANGERAK, Auteur ; Shireen P. T. KAIJADOE, Auteur ; Marrit E. BURUMA, Auteur ; Rianne VERSCHUUR, Auteur ; Claudine DIETZ, Auteur ; Jan K. BUITELAAR, Auteur ; Iris J. OOSTERLING, Auteur . - p.3473-3485.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3473-3485
Mots-clés : Autism Spectrum Disorder/diagnosis/therapy Autistic Disorder/diagnosis/therapy Child Early Diagnosis Humans Parents Risk Assessment Autism spectrum disorder Early detection Improvement strategies Parental experiences Preventive care board of/and/or speaker for Takeda/Shire, Roche, Medice, Angelini, Janssen, and Servier. He is not an employee of any of these companies, and not a stock shareholder of any of these companies. He has no other financial or material support, including expert testimony, patents, royalties. Index. décimale : PER Périodiques Résumé : Whereas it is well documented how parents experience the diagnostic process of their child with autism spectrum disorder (ASD), less is known about parental experiences with the course of the early identification process and first steps in receiving care for their child with ASD symptoms. This mixed-method study investigated these experiences as well as barriers and improvement strategies regarding early detection in the Netherlands. A parental survey (N=45) showed that, on average, initial concerns started at 22Â months. A focus group (N=10) revealed multiple barriers and proposed strategies of improvement in three domains: "Knowledge and Expertise", "Attention to Parental Needs" and "System and Organization". Strategies to improve early identification will be discussed based on parental perspectives and professional perspectives. En ligne : http://dx.doi.org/10.1007/s10803-021-05226-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485