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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)
[article]
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
in Journal of Child Psychology and Psychiatry > 63-9 (September 2022) . - p.1068-1077[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 Pupillary Responses Obey Emmert's Law and Co-vary with Autistic Traits / C. TORTELLI in Journal of Autism and Developmental Disorders, 51-8 (August 2021)
[article]
Titre : Pupillary Responses Obey Emmert's Law and Co-vary with Autistic Traits Type de document : Texte imprimé et/ou numérique Auteurs : C. TORTELLI, Auteur ; M. TURI, Auteur ; D. C. BURR, Auteur ; P. BINDA, Auteur Article en page(s) : p.2908-2919 Langues : Anglais (eng) Mots-clés : Adult Autism Spectrum Disorder/diagnosis/physiopathology Female Humans Illusions/physiology Male Photic Stimulation Pupil/physiology Reflex, Pupillary/physiology Young Adult Autistic traits Individual differences Perceptual illusion Pupillometry Index. décimale : PER Périodiques Résumé : We measured the pupil response to a light stimulus subject to a size illusion and found that stimuli perceived as larger evoke a stronger pupillary response. The size illusion depends on combining retinal signals with contextual 3D information; contextual processing is thought to vary across individuals, being weaker in individuals with stronger autistic traits. Consistent with this theory, autistic traits correlated negatively with the magnitude of pupil modulations in our sample of neurotypical adults; however, psychophysical measurements of the illusion did not correlate with autistic traits, or with the pupil modulations. This shows that pupillometry provides an accurate objective index of complex perceptual processes, particularly useful for quantifying interindividual differences, and potentially more informative than standard psychophysical measures. En ligne : http://dx.doi.org/10.1007/s10803-020-04718-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453
in Journal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2908-2919[article] Pupillary Responses Obey Emmert's Law and Co-vary with Autistic Traits [Texte imprimé et/ou numérique] / C. TORTELLI, Auteur ; M. TURI, Auteur ; D. C. BURR, Auteur ; P. BINDA, Auteur . - p.2908-2919.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 51-8 (August 2021) . - p.2908-2919
Mots-clés : Adult Autism Spectrum Disorder/diagnosis/physiopathology Female Humans Illusions/physiology Male Photic Stimulation Pupil/physiology Reflex, Pupillary/physiology Young Adult Autistic traits Individual differences Perceptual illusion Pupillometry Index. décimale : PER Périodiques Résumé : We measured the pupil response to a light stimulus subject to a size illusion and found that stimuli perceived as larger evoke a stronger pupillary response. The size illusion depends on combining retinal signals with contextual 3D information; contextual processing is thought to vary across individuals, being weaker in individuals with stronger autistic traits. Consistent with this theory, autistic traits correlated negatively with the magnitude of pupil modulations in our sample of neurotypical adults; however, psychophysical measurements of the illusion did not correlate with autistic traits, or with the pupil modulations. This shows that pupillometry provides an accurate objective index of complex perceptual processes, particularly useful for quantifying interindividual differences, and potentially more informative than standard psychophysical measures. En ligne : http://dx.doi.org/10.1007/s10803-020-04718-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=453