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

Copy number variation in Han Chinese individuals with autism spectrum disorder / M. J. GAZZELLONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34 Titre : Copy number variation in Han Chinese individuals with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : M. J. GAZZELLONE, Auteur ; X. ZHOU, Auteur ; A. C. LIONEL, Auteur ; M. UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; C. SUN, Auteur ; J. WANG, Auteur ; M. ZOU, Auteur ; K. TAMMIMIES, Auteur ; S. WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; J. WEI, Auteur ; Z. WANG, Auteur ; L. WU, Auteur ; Stephen SCHERER, Auteur Article en page(s) : p.34 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Han Chinese  Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Copy number variation in Han Chinese individuals with autism spectrum disorder [Texte imprimé et/ou numérique] / M. J. GAZZELLONE, Auteur ; X. ZHOU, Auteur ; A. C. LIONEL, Auteur ; M. UDDIN, Auteur ; B. THIRUVAHINDRAPURAM, Auteur ; S. LIANG, Auteur ; C. SUN, Auteur ; J. WANG, Auteur ; M. ZOU, Auteur ; K. TAMMIMIES, Auteur ; S. WALKER, Auteur ; T. SELVANAYAGAM, Auteur ; J. WEI, Auteur ; Z. WANG, Auteur ; L. WU, Auteur ; Stephen SCHERER, Auteur . - p.34. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.34 Mots-clés : Autism spectrum disorder (ASD)  Copy number variations (CNVs)  Han Chinese  Microarray diagnostic testing Index. décimale : PER Périodiques Résumé : BACKGROUND: Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic events involved, but the contribution of these events in non-European ASD populations has not been well studied. Here, we report on rare CNVs detected in a cohort of individuals with ASD of Han Chinese background. METHODS: DNA samples were obtained from 104 ASD probands and their parents who were recruited from Harbin, China. Samples were genotyped on the Affymetrix CytoScan HD platform. Rare CNVs were identified by comparing data with 873 technology-matched controls from Ontario and 1,235 additional population controls of Han Chinese ethnicity. RESULTS: Of the probands, 8.6% had at least 1 de novo CNV (overlapping the GIGYF2, SPRY1, 16p13.3, 16p11.2, 17p13.3-17p13.2, DMD, and NAP1L6 genes/loci). Rare inherited CNVs affected other plausible neurodevelopmental candidate genes including GRID2, LINGO2, and SLC39A12. A 24-kb duplication was also identified at YWHAE, a gene previously implicated in ASD and other developmental disorders. This duplication is observed at a similar frequency in cases and in population controls and is likely a benign Asian-specific copy number polymorphism. CONCLUSIONS: Our findings help define genomic features relevant to ASD in the Han Chinese and emphasize the importance of using ancestry-matched controls in medical genetic interpretations. En ligne : http://dx.doi.org/10.1186/1866-1955-6-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort / J. ISAKSSON in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 26p. Titre : EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort Type de document : Texte imprimé et/ou numérique Auteurs : J. ISAKSSON, Auteur ; K. TAMMIMIES, Auteur ; J. NEUFELD, Auteur ; Elodie CAUVET, Auteur ; K. LUNDIN, Auteur ; Jan K. BUITELAAR, Auteur ; E. LOTH, Auteur ; D. G. M. MURPHY, Auteur ; W. SPOOREN, Auteur ; Sven BÖLTE, Auteur Article en page(s) : 26p. Langues : Anglais (eng) Mots-clés : Adolescent  Autistic Disorder/diagnosis/epidemiology/genetics  Child  Cohort Studies  Europe  Female  Humans  Longitudinal Studies  Male  Phenotype  Twins, Dizygotic/statistics & numerical data  Twins, Monozygotic/statistics & numerical data  adhd  Autism spectrum disorder  Biomarkers  Brain  Cognition  Genetics  Intervention  Twins Index. décimale : PER Périodiques Résumé : EU-AIMS is the largest European research program aiming to identify stratification biomarkers and novel interventions for autism spectrum disorder (ASD). Within the program, the Longitudinal European Autism Project (LEAP) has recruited and comprehensively phenotyped a rare sample of 76 monozygotic and dizygotic twins, discordant, or concordant for ASD plus 30 typically developing twins. The aim of this letter is to complete previous descriptions of the LEAP case-control sample, clinically characterize, and investigate the suitability of the sample for ASD twin-control analyses purposes and share some 'lessons learnt.' Among the twins, a diagnosis of ASD is associated with increased symptom levels of ADHD, higher rates of intellectual disability, and lower family income. For the future, we conclude that the LEAP twin cohort offers multiple options for analyses of genetic and shared and non-shared environmental factors to generate new hypotheses for the larger cohort of LEAP singletons, but particularly cross-validate and refine evidence from it. En ligne : https://dx.doi.org/10.1186/s13229-018-0212-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] EU-AIMS Longitudinal European Autism Project (LEAP): the autism twin cohort [Texte imprimé et/ou numérique] / J. ISAKSSON, Auteur ; K. TAMMIMIES, Auteur ; J. NEUFELD, Auteur ; Elodie CAUVET, Auteur ; K. LUNDIN, Auteur ; Jan K. BUITELAAR, Auteur ; E. LOTH, Auteur ; D. G. M. MURPHY, Auteur ; W. SPOOREN, Auteur ; Sven BÖLTE, Auteur . - 26p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 26p. Mots-clés : Adolescent  Autistic Disorder/diagnosis/epidemiology/genetics  Child  Cohort Studies  Europe  Female  Humans  Longitudinal Studies  Male  Phenotype  Twins, Dizygotic/statistics & numerical data  Twins, Monozygotic/statistics & numerical data  adhd  Autism spectrum disorder  Biomarkers  Brain  Cognition  Genetics  Intervention  Twins Index. décimale : PER Périodiques Résumé : EU-AIMS is the largest European research program aiming to identify stratification biomarkers and novel interventions for autism spectrum disorder (ASD). Within the program, the Longitudinal European Autism Project (LEAP) has recruited and comprehensively phenotyped a rare sample of 76 monozygotic and dizygotic twins, discordant, or concordant for ASD plus 30 typically developing twins. The aim of this letter is to complete previous descriptions of the LEAP case-control sample, clinically characterize, and investigate the suitability of the sample for ASD twin-control analyses purposes and share some 'lessons learnt.' Among the twins, a diagnosis of ASD is associated with increased symptom levels of ADHD, higher rates of intellectual disability, and lower family income. For the future, we conclude that the LEAP twin cohort offers multiple options for analyses of genetic and shared and non-shared environmental factors to generate new hypotheses for the larger cohort of LEAP singletons, but particularly cross-validate and refine evidence from it. En ligne : https://dx.doi.org/10.1186/s13229-018-0212-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

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