2D:4D Ratio in Neurodevelopmental Disorders: A Twin Study / Lynnea 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 Auteurs : Lynnea MYERS, Auteur ; Annelies VAN'T WESTEINDE, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Kristiina 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] / Lynnea MYERS, Auteur ; Annelies VAN'T WESTEINDE, Auteur ; Ralf KUJA-HALKOLA, Auteur ; Kristiina 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 / MatthewJ 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 Auteurs : MatthewJ GAZZELLONE, Auteur ; Xue ZHOU, Auteur ; Anath C. LIONEL, Auteur ; Mohammed UDDIN, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Shuang LIANG, Auteur ; Caihong SUN, Auteur ; Jing WANG, Auteur ; Mingyang ZOU, Auteur ; Kristiina TAMMIMIES, Auteur ; Susan WALKER, Auteur ; Thanuja SELVANAYAGAM, Auteur ; John WEI, Auteur ; Ziqi WANG, Auteur ; Lijie 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] / MatthewJ GAZZELLONE, Auteur ; Xue ZHOU, Auteur ; Anath C. LIONEL, Auteur ; Mohammed UDDIN, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Shuang LIANG, Auteur ; Caihong SUN, Auteur ; Jing WANG, Auteur ; Mingyang ZOU, Auteur ; Kristiina TAMMIMIES, Auteur ; Susan WALKER, Auteur ; Thanuja SELVANAYAGAM, Auteur ; John WEI, Auteur ; Ziqi WANG, Auteur ; Lijie 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 / Johan 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 Auteurs : Johan ISAKSSON, Auteur ; Kristiina TAMMIMIES, Auteur ; Janina NEUFELD, Auteur ; Elodie CAUVET, Auteur ; Karl LUNDIN, Auteur ; Jan K. BUITELAAR, Auteur ; Eva LOTH, Auteur ; Declan G.M. MURPHY, Auteur ; Will 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] / Johan ISAKSSON, Auteur ; Kristiina TAMMIMIES, Auteur ; Janina NEUFELD, Auteur ; Elodie CAUVET, Auteur ; Karl LUNDIN, Auteur ; Jan K. BUITELAAR, Auteur ; Eva LOTH, Auteur ; Declan G.M. MURPHY, Auteur ; Will 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

Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field / Shyam Sundar RAJAGOPALAN in Journal of Neurodevelopmental Disorders, 16 (2024)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 16 (2024) Titre : Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field Type de document : texte imprimé Auteurs : Shyam Sundar RAJAGOPALAN, Auteur ; Kristiina TAMMIMIES, Auteur Langues : Anglais (eng) Mots-clés : Humans  Machine Learning  Electronic Health Records  Neurodevelopmental Disorders/diagnosis/epidemiology  Attention Deficit Disorder with Hyperactivity/diagnosis/epidemiology  Autism Spectrum Disorder/diagnosis/epidemiology  Electronic Health Record  Neurodevelopmental Disorder  Population Register  for publication Not applicable. Competing interests The authors declare that  there are no competing interests. Index. décimale : PER Périodiques Résumé : Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early. En ligne : https://dx.doi.org/10.1186/s11689-024-09579-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field [texte imprimé] / Shyam Sundar RAJAGOPALAN, Auteur ; Kristiina TAMMIMIES, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 16 (2024) Mots-clés : Humans  Machine Learning  Electronic Health Records  Neurodevelopmental Disorders/diagnosis/epidemiology  Attention Deficit Disorder with Hyperactivity/diagnosis/epidemiology  Autism Spectrum Disorder/diagnosis/epidemiology  Electronic Health Record  Neurodevelopmental Disorder  Population Register  for publication Not applicable. Competing interests The authors declare that  there are no competing interests. Index. décimale : PER Périodiques Résumé : Machine learning (ML) is increasingly used to identify patterns that could predict neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). One key source of multilevel data for ML prediction models includes population-based registers and electronic health records. These can contain rich information on individual and familial medical histories and socio-demographics. This review summarizes studies published between 2010-2022 that used ML algorithms to develop predictive models for NDDs using population-based registers and electronic health records. A literature search identified 1191 articles, of which 32 were retained. Of these, 47% developed ASD prediction models and 25% ADHD models. Classical ML methods were used in 82% of studies and in particular tree-based prediction models performed well. The sensitivity of the models was lower than 75% for most studies, while the area under the curve (AUC) was greater than 75%. The most important predictors were patient and familial medical history and sociodemographic factors. Using private in-house datasets makes comparing and validating model generalizability across studies difficult. The ML model development and reporting guidelines were adopted only in a few recently reported studies. More work is needed to harness the power of data for detecting NDDs early. En ligne : https://dx.doi.org/10.1186/s11689-024-09579-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576

Preferential looking to eyes versus mouth in early infancy: heritability and link to concurrent and later development / Charlotte VIKTORSSON in Journal of Child Psychology and Psychiatry, 64-2 (February 2023)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 64-2 (February 2023) . - p.311-319 Titre : Preferential looking to eyes versus mouth in early infancy: heritability and link to concurrent and later development Type de document : texte imprimé Auteurs : Charlotte VIKTORSSON, Auteur ; Ana Maria PORTUGAL, Auteur ; Danyang LI, Auteur ; Maja RUDLING, Auteur ; Monica SIQUEIROS SANCHEZ, Auteur ; Kristiina TAMMIMIES, Auteur ; Mark J. TAYLOR, Auteur ; Angelica RONALD, Auteur ; Terje FALCK-YTTER, Auteur Article en page(s) : p.311-319 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background From birth, infants orient preferentially to faces, and when looking at the face, they attend primarily to eyes and mouth. These areas convey different types of information, and earlier research suggests that genetic factors influence the preference for one or the other in young children. Methods In a sample of 535 5-month-old infant twins, we assessed eye (relative to mouth) preference in early infancy, i.e., before neural systems for social communication and language are fully developed. We investigated the contribution of genetic and environmental factors to the preference for looking at eyes, and the association with concurrent traits and follow-up measures. Results Eye preference was independent from all other concurrent traits measured, and had a moderate-to-high contribution from genetic influences (A = 0.57; 95% CI: 0.45, 0.66). Preference for eyes at 5 months was associated with higher parent ratings of receptive vocabulary at 14 months. No statistically significant association with later autistic traits was found. Preference for eyes was strikingly stable across different stimulus types (e.g., dynamic vs. still), suggesting that infants' preference at this age does not reflect sensitivity to low-level visual cues. Conclusions These results suggest that individual differences in infants' preferential looking to eyes versus mouth to a substantial degree reflect genetic variation. The findings provide new leads on both the perceptual basis and the developmental consequences of these attentional biases. En ligne : https://doi.org/10.1111/jcpp.13724 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=492 [article] Preferential looking to eyes versus mouth in early infancy: heritability and link to concurrent and later development [texte imprimé] / Charlotte VIKTORSSON, Auteur ; Ana Maria PORTUGAL, Auteur ; Danyang LI, Auteur ; Maja RUDLING, Auteur ; Monica SIQUEIROS SANCHEZ, Auteur ; Kristiina TAMMIMIES, Auteur ; Mark J. TAYLOR, Auteur ; Angelica RONALD, Auteur ; Terje FALCK-YTTER, Auteur . - p.311-319. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 64-2 (February 2023) . - p.311-319 Index. décimale : PER Périodiques Résumé : Background From birth, infants orient preferentially to faces, and when looking at the face, they attend primarily to eyes and mouth. These areas convey different types of information, and earlier research suggests that genetic factors influence the preference for one or the other in young children. Methods In a sample of 535 5-month-old infant twins, we assessed eye (relative to mouth) preference in early infancy, i.e., before neural systems for social communication and language are fully developed. We investigated the contribution of genetic and environmental factors to the preference for looking at eyes, and the association with concurrent traits and follow-up measures. Results Eye preference was independent from all other concurrent traits measured, and had a moderate-to-high contribution from genetic influences (A = 0.57; 95% CI: 0.45, 0.66). Preference for eyes at 5 months was associated with higher parent ratings of receptive vocabulary at 14 months. No statistically significant association with later autistic traits was found. Preference for eyes was strikingly stable across different stimulus types (e.g., dynamic vs. still), suggesting that infants' preference at this age does not reflect sensitivity to low-level visual cues. Conclusions These results suggest that individual differences in infants' preferential looking to eyes versus mouth to a substantial degree reflect genetic variation. The findings provide new leads on both the perceptual basis and the developmental consequences of these attentional biases. En ligne : https://doi.org/10.1111/jcpp.13724 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=492

Pupil size and pupillary light reflex in early infancy: heritability and link to genetic liability to schizophrenia / Ana Maria PORTUGAL in Journal of Child Psychology and Psychiatry, 63-9 (September 2022)  

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Quo Vadis clinical genomics of ASD? / Kristiina TAMMIMIES in Autism, 20-3 (April 2016)  

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Rare variants in the outcome of social skills group training for autism / Danyang LI in Autism Research, 15-3 (March 2022)  

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Twin research in autism spectrum disorder / Charlotte WILLFORS

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