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 et/ou numérique 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 et/ou numérique] / 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)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1068-1077 Titre : Pupil size and pupillary light reflex in early infancy: heritability and link to genetic liability to schizophrenia Type de document : Texte imprimé et/ou numérique Auteurs : Ana Maria PORTUGAL, Auteur ; Mark J. TAYLOR, Auteur ; Charlotte VIKTORSSON, Auteur ; Pär NYSTROM, Auteur ; Danyang LI, Auteur ; Kristiina TAMMIMIES, Auteur ; Angelica RONALD, Auteur ; Terje FALCK-YTTER, Auteur Article en page(s) : p.1068-1077 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Depressive Disorder, Major  Humans  Infant  Pupil/physiology  Reflex, Pupillary/physiology  Schizophrenia/genetics  Pupillometry  infancy  polygenic risk scores  pupillary light reflex  schizophrenia  twin design Index. décimale : PER Périodiques Résumé : BACKGROUND: Measures based on pupillometry, such as the pupillary light reflex (PLR) and baseline pupil size, reflect physiological responses linked to specific neural circuits that have been implicated as atypical in some psychiatric and neurodevelopmental conditions. METHODS: We investigated the contribution of genetic and environmental factors to the baseline pupil size and the PLR in 510 infant twins assessed at 5months of age (281 monozygotic and 229 dizygotic pairs), and its associations with common genetic variants associated with neurodevelopmental (autism spectrum disorder and attention deficit hyperactivity disorder) and mental health (bipolar disorder, major depressive disorder and schizophrenia) conditions using genome-wide polygenic scores (GPSs). RESULTS: Univariate twin modelling showed high heritability at 5months for both pupil size (h(2) =.64) and constriction in response to light (h(2) =.62), and bivariate twin modeling indicated substantial independence between the genetic factors influencing each (r(G) =.38). A statistically significant positive association between infant tonic pupil size and the GPS for schizophrenia was found (Î2=.15, p=.024), while there was no significant association with the GPS for autism or any other GPSs. CONCLUSIONS: This study shows that some pupil measures are highly heritable in early infancy, although substantially independent in their genetic etiologies, and associated with common genetic variants linked to schizophrenia. It illustrates how genetically informed studies of infants may help us understand early physiological responses associated with psychiatric disorders which emerge much later in life. En ligne : http://dx.doi.org/10.1111/jcpp.13564 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486 [article] Pupil size and pupillary light reflex in early infancy: heritability and link to genetic liability to schizophrenia [Texte imprimé et/ou numérique] / Ana Maria PORTUGAL, Auteur ; Mark J. TAYLOR, Auteur ; Charlotte VIKTORSSON, Auteur ; Pär NYSTROM, Auteur ; Danyang LI, Auteur ; Kristiina TAMMIMIES, Auteur ; Angelica RONALD, Auteur ; Terje FALCK-YTTER, Auteur . - p.1068-1077. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1068-1077 Mots-clés : Autism Spectrum Disorder  Depressive Disorder, Major  Humans  Infant  Pupil/physiology  Reflex, Pupillary/physiology  Schizophrenia/genetics  Pupillometry  infancy  polygenic risk scores  pupillary light reflex  schizophrenia  twin design Index. décimale : PER Périodiques Résumé : BACKGROUND: Measures based on pupillometry, such as the pupillary light reflex (PLR) and baseline pupil size, reflect physiological responses linked to specific neural circuits that have been implicated as atypical in some psychiatric and neurodevelopmental conditions. METHODS: We investigated the contribution of genetic and environmental factors to the baseline pupil size and the PLR in 510 infant twins assessed at 5months of age (281 monozygotic and 229 dizygotic pairs), and its associations with common genetic variants associated with neurodevelopmental (autism spectrum disorder and attention deficit hyperactivity disorder) and mental health (bipolar disorder, major depressive disorder and schizophrenia) conditions using genome-wide polygenic scores (GPSs). RESULTS: Univariate twin modelling showed high heritability at 5months for both pupil size (h(2) =.64) and constriction in response to light (h(2) =.62), and bivariate twin modeling indicated substantial independence between the genetic factors influencing each (r(G) =.38). A statistically significant positive association between infant tonic pupil size and the GPS for schizophrenia was found (Î2=.15, p=.024), while there was no significant association with the GPS for autism or any other GPSs. CONCLUSIONS: This study shows that some pupil measures are highly heritable in early infancy, although substantially independent in their genetic etiologies, and associated with common genetic variants linked to schizophrenia. It illustrates how genetically informed studies of infants may help us understand early physiological responses associated with psychiatric disorders which emerge much later in life. En ligne : http://dx.doi.org/10.1111/jcpp.13564 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=486

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

Public ISBD [article]  inAutism > 20-3 (April 2016) . - p.259-261 Titre : Quo Vadis clinical genomics of ASD? Type de document : Texte imprimé et/ou numérique Auteurs : Kristiina TAMMIMIES, Auteur ; Terje FALCK-YTTER, Auteur ; Sven BÖLTE, Auteur Article en page(s) : p.259-261 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1177/1362361316635798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284 [article] Quo Vadis clinical genomics of ASD? [Texte imprimé et/ou numérique] / Kristiina TAMMIMIES, Auteur ; Terje FALCK-YTTER, Auteur ; Sven BÖLTE, Auteur . - p.259-261. Langues : Anglais (eng) in Autism > 20-3 (April 2016) . - p.259-261 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1177/1362361316635798 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284

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

Public ISBD [article]  inAutism Research > 15-3 (March 2022) . - p.434-446 Titre : Rare variants in the outcome of social skills group training for autism Type de document : Texte imprimé et/ou numérique Auteurs : Danyang LI, Auteur ; Nora CHOQUE OLSSON, Auteur ; Martin BECKER, Auteur ; Abishek ARORA, Auteur ; Hong JIAO, Auteur ; Nina NORGREN, Auteur ; Ulf JONSSON, Auteur ; Sven BÖLTE, Auteur ; Kristiina TAMMIMIES, Auteur Article en page(s) : p.434-446 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (? = 9.35; p = 0.036), while no such association was observed for SSGT (? = ?2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (? = 8.30, p = 0.0044) or more beneficial (? = ?6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD. En ligne : https://doi.org/10.1002/aur.2666 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Rare variants in the outcome of social skills group training for autism [Texte imprimé et/ou numérique] / Danyang LI, Auteur ; Nora CHOQUE OLSSON, Auteur ; Martin BECKER, Auteur ; Abishek ARORA, Auteur ; Hong JIAO, Auteur ; Nina NORGREN, Auteur ; Ulf JONSSON, Auteur ; Sven BÖLTE, Auteur ; Kristiina TAMMIMIES, Auteur . - p.434-446. Langues : Anglais (eng) in Autism Research > 15-3 (March 2022) . - p.434-446 Index. décimale : PER Périodiques Résumé : Abstract Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (? = 9.35; p = 0.036), while no such association was observed for SSGT (? = ?2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (? = 8.30, p = 0.0044) or more beneficial (? = ?6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD. En ligne : https://doi.org/10.1002/aur.2666 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

Twin research in autism spectrum disorder / Charlotte WILLFORS

Public ISBD in Autism imaging and Devices / Manuel F. CASANOVA Titre : Twin research in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Charlotte WILLFORS, Auteur ; Kristiina TAMMIMIES, Auteur ; Sven BÖLTE, Auteur Importance : p.15-36 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=382 in Autism imaging and Devices / Manuel F. CASANOVA Twin research in autism spectrum disorder [Texte imprimé et/ou numérique] / Charlotte WILLFORS, Auteur ; Kristiina TAMMIMIES, Auteur ; Sven BÖLTE, Auteur . - [s.d.] . - p.15-36. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=382

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