Different sensory dimensions in infancy are associated with separable etiological influences and with autistic traits in toddlerhood / Giorgia BUSSU in Journal of Child Psychology and Psychiatry, 66-8 (August 2025)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 66-8 (August 2025) . - p.1182-1196 Titre : Different sensory dimensions in infancy are associated with separable etiological influences and with autistic traits in toddlerhood Type de document : Texte imprimé et/ou numérique Auteurs : Giorgia BUSSU, Auteur ; Ana Maria PORTUGAL, Auteur ; Terje FALCK-YTTER, Auteur Article en page(s) : p.1182-1196 Langues : Anglais (eng) Mots-clés : Sensory processing  infancy  autistic traits  etiological structure  multivariate  twin study Index. décimale : PER Périodiques Résumé : Background Infants vary significantly in the way they process and respond to sensory stimuli, and altered sensory processing has been reported among infants later diagnosed with autism. Previous work with adolescents and adults suggests that variability in sensory processing may have a strong genetic basis. Yet, little is known about the etiological factors influencing sensory differences in infancy, when brain circuits supporting social and non-social cognition are sculpted and learning about the world via sensory input largely occurs in interaction with caregivers. Methods We analysed data from a community sample of monozygotic (MZ) and dizygotic (DZ) 5-month-old same-sex twins (n?=?285 pairs, n?=?158 MZ pairs, n?=?150 male pairs) from the BabyTwins Study in Sweden (BATSS) using exploratory factor analysis, generalised estimating equations and multivariate twin models to delineate the phenotypic and etiological structure of individual variability across different sensory processing dimensions, as measured by the Infant/Toddler Sensory Profile. Developmental links to later autistic traits were also assessed, as measured by total scores from the Quantitative Checklist for Autism in Toddlers at 36?months. Results Results suggested separability between sensory processing dimensions (i.e. sensation seeking, sensation avoiding, sensory sensitivity and low registration) at a phenotypic and etiological level, with significant contributions from additive genetics and family environment that were unique to each sensory dimension and significant but smaller contributions from shared influences. Sensory domains also showed etiological separability, with unique genetic influences to each domain, while contributions from shared environment were in part shared across domains. A higher incidence of tactile-related behaviours and behaviours associated with sensory sensitivity, sensation avoiding, and low registration were significantly associated with higher levels of autistic traits in toddlerhood. Conclusions This study provides a map of the phenotypic and etiological structure of sensory processing in infancy, which will be informative for studies of both typical and atypical development. En ligne : https://doi.org/10.1111/jcpp.14143 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=565 [article] Different sensory dimensions in infancy are associated with separable etiological influences and with autistic traits in toddlerhood [Texte imprimé et/ou numérique] / Giorgia BUSSU, Auteur ; Ana Maria PORTUGAL, Auteur ; Terje FALCK-YTTER, Auteur . - p.1182-1196. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 66-8 (August 2025) . - p.1182-1196 Mots-clés : Sensory processing  infancy  autistic traits  etiological structure  multivariate  twin study Index. décimale : PER Périodiques Résumé : Background Infants vary significantly in the way they process and respond to sensory stimuli, and altered sensory processing has been reported among infants later diagnosed with autism. Previous work with adolescents and adults suggests that variability in sensory processing may have a strong genetic basis. Yet, little is known about the etiological factors influencing sensory differences in infancy, when brain circuits supporting social and non-social cognition are sculpted and learning about the world via sensory input largely occurs in interaction with caregivers. Methods We analysed data from a community sample of monozygotic (MZ) and dizygotic (DZ) 5-month-old same-sex twins (n?=?285 pairs, n?=?158 MZ pairs, n?=?150 male pairs) from the BabyTwins Study in Sweden (BATSS) using exploratory factor analysis, generalised estimating equations and multivariate twin models to delineate the phenotypic and etiological structure of individual variability across different sensory processing dimensions, as measured by the Infant/Toddler Sensory Profile. Developmental links to later autistic traits were also assessed, as measured by total scores from the Quantitative Checklist for Autism in Toddlers at 36?months. Results Results suggested separability between sensory processing dimensions (i.e. sensation seeking, sensation avoiding, sensory sensitivity and low registration) at a phenotypic and etiological level, with significant contributions from additive genetics and family environment that were unique to each sensory dimension and significant but smaller contributions from shared influences. Sensory domains also showed etiological separability, with unique genetic influences to each domain, while contributions from shared environment were in part shared across domains. A higher incidence of tactile-related behaviours and behaviours associated with sensory sensitivity, sensation avoiding, and low registration were significantly associated with higher levels of autistic traits in toddlerhood. Conclusions This study provides a map of the phenotypic and etiological structure of sensory processing in infancy, which will be informative for studies of both typical and atypical development. En ligne : https://doi.org/10.1111/jcpp.14143 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=565

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

Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder / Nico BAST in Journal of Child Psychology and Psychiatry, 62-2 (February 2021)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 62-2 (February 2021) . - p.149-159 Titre : Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Nico BAST, Auteur ; Luke MASON, Auteur ; Christine M. FREITAG, Auteur ; Tim SMITH, Auteur ; Ana Maria PORTUGAL, Auteur ; Luise POUSTKA, Auteur ; Tobias BANASCHEWSKI, Auteur ; Mark H. JOHNSON, Auteur Année de publication : 2021 Article en page(s) : p.149-159 Langues : Anglais (eng) Mots-clés : Eye tracking  biomarker  brainstem  cerebellum  locus coeruleus  pupillometry  visual attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Visual exploration in autism spectrum disorder (ASD) is characterized by attenuated social attention. The underlying oculomotor function during visual exploration is understudied, whereas oculomotor function during restricted viewing suggested saccade dysmetria in ASD by altered pontocerebellar motor modulation. METHODS: Oculomotor function was recorded using remote eye tracking in 142 ASD participants and 142 matched neurotypical controls during free viewing of naturalistic videos with and without human content. The sample was heterogenous concerning age (6-30 years), cognitive ability (60-140 IQ), and male/female ratio (3:1). Oculomotor function was defined as saccade, fixation, and pupil-dilation features that were compared between groups in linear mixed models. Oculomotor function was investigated as ASD classifier and features were correlated with clinical measures. RESULTS: We observed decreased saccade duration (?M = -0.50, CI [-0.21, -0.78]) and amplitude (?M = -0.42, CI [-0.12, -0.72]), which was independent of human video content. We observed null findings concerning fixation and pupil-dilation features (POWER = .81). Oculomotor function is a valid ASD classifier comparable to social attention concerning discriminative power. Within ASD, saccade features correlated with measures of restricted and repetitive behavior. CONCLUSIONS: We conclude saccade dysmetria as ASD oculomotor phenotype relevant to visual exploration. Decreased saccade amplitude and duration indicate spatially clustered fixations that attenuate visual exploration and emphasize endogenous over exogenous attention. We propose altered pontocerebellar motor modulation as underlying mechanism that contributes to atypical (oculo-)motor coordination and attention function in ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13267 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440 [article] Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder [Texte imprimé et/ou numérique] / Nico BAST, Auteur ; Luke MASON, Auteur ; Christine M. FREITAG, Auteur ; Tim SMITH, Auteur ; Ana Maria PORTUGAL, Auteur ; Luise POUSTKA, Auteur ; Tobias BANASCHEWSKI, Auteur ; Mark H. JOHNSON, Auteur . - 2021 . - p.149-159. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 62-2 (February 2021) . - p.149-159 Mots-clés : Eye tracking  biomarker  brainstem  cerebellum  locus coeruleus  pupillometry  visual attention Index. décimale : PER Périodiques Résumé : BACKGROUND: Visual exploration in autism spectrum disorder (ASD) is characterized by attenuated social attention. The underlying oculomotor function during visual exploration is understudied, whereas oculomotor function during restricted viewing suggested saccade dysmetria in ASD by altered pontocerebellar motor modulation. METHODS: Oculomotor function was recorded using remote eye tracking in 142 ASD participants and 142 matched neurotypical controls during free viewing of naturalistic videos with and without human content. The sample was heterogenous concerning age (6-30 years), cognitive ability (60-140 IQ), and male/female ratio (3:1). Oculomotor function was defined as saccade, fixation, and pupil-dilation features that were compared between groups in linear mixed models. Oculomotor function was investigated as ASD classifier and features were correlated with clinical measures. RESULTS: We observed decreased saccade duration (?M = -0.50, CI [-0.21, -0.78]) and amplitude (?M = -0.42, CI [-0.12, -0.72]), which was independent of human video content. We observed null findings concerning fixation and pupil-dilation features (POWER = .81). Oculomotor function is a valid ASD classifier comparable to social attention concerning discriminative power. Within ASD, saccade features correlated with measures of restricted and repetitive behavior. CONCLUSIONS: We conclude saccade dysmetria as ASD oculomotor phenotype relevant to visual exploration. Decreased saccade amplitude and duration indicate spatially clustered fixations that attenuate visual exploration and emphasize endogenous over exogenous attention. We propose altered pontocerebellar motor modulation as underlying mechanism that contributes to atypical (oculo-)motor coordination and attention function in ASD. En ligne : http://dx.doi.org/10.1111/jcpp.13267 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=440

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