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 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] / 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

Infant responses to direct gaze and associations to autism: A live eye-tracking study / Pär NYSTRÖM ; Giorgia BUSSU ; Sven BÖLTE ; Terje FALCK-YTTER in Autism, 28-7 (July 2024)  

Public ISBD [article]  inAutism > 28-7 (July 2024) . - p.1677-1689 Titre : Infant responses to direct gaze and associations to autism: A live eye-tracking study Type de document : texte imprimé Auteurs : Pär NYSTRÖM, Auteur ; Giorgia BUSSU, Auteur ; Sven BÖLTE, Auteur ; Terje FALCK-YTTER, Auteur Article en page(s) : p.1677-1689 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  direct gaze  infant development  live eye tracking Index. décimale : PER Périodiques Résumé : Being looked at is an important communicative signal, and attenuated responses to such direct gaze have been suggested as an early sign of autism. Using live eye tracking, we examined whether direct gaze elicits different gaze responses in infants at ages 10, 14 and 18 months with and without later autism in real-life interaction. The sample consisted of 169 infants: 35 with elevated likelihood of autism and subsequent diagnosis, 94 without subsequent diagnosis and 40 with typical likelihood of autism. Infants in all groups tended to look more towards the adult?s face shortly after the direct gaze occurred. Neither how much nor how quickly the infants responded to the direct gaze differentiated the without elevated likelihood of autism and subsequent diagnosis and with elevated likelihood of autism and subsequent diagnosis groups. Infants in the typical likelihood group looked more at the face after the direct-gaze event than infants in the two elevated likelihood groups, but this result is tentative. In an exploratory analysis, infants in the elevated likelihood of autism and subsequent diagnosis group looked away quicker from faces with direct gaze than infants in the typical likelihood group, but this measure did not correlate with dimensional autism or differentiate between the two elevated likelihood groups. The current results suggest that attenuated behavioural responses to direct gaze in infancy are neither strong nor specific early markers of autism. Lay abstract When other people look directly towards us, we often respond by looking back at them, and such direct-gaze responses are important for establishing eye contact. Atypical eye contact is common in autism, but how and when this aspect of autism develops is not well understood. Here, we studied whether how much and how quickly infants respond to others' direct gaze is associated with autism in toddlerhood. We did this by measuring direct-gaze responses in a playful social interaction using live eye tracking. The study included 169 infants, of whom 129 had an elevated likelihood of developing autism due to having a first-degree family member with the condition, and 40 with typical likelihood of autism. In the elevated likelihood group, 35 were diagnosed with autism spectrum disorder at 3 years of age, and 94 were not. The results showed that infants in all three groups tended to increase their looking towards the adult?s face after the adult looked directly at them. However, neither how much nor how quickly the infants responded to direct gaze by looking back at the adult reliably differentiated the infants with or without subsequent autism. While infants in the elevated likelihood of autism and subsequent diagnosis group tended to look away quicker from faces with direct gaze than infants in the typical likelihood group, this measure did not differentiate between the two elevated likelihood groups. We interpret the results as supporting the view that atypical direct-gaze responses are not early markers of autism. En ligne : https://dx.doi.org/10.1177/13623613231203037 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=531 [article] Infant responses to direct gaze and associations to autism: A live eye-tracking study [texte imprimé] / Pär NYSTRÖM, Auteur ; Giorgia BUSSU, Auteur ; Sven BÖLTE, Auteur ; Terje FALCK-YTTER, Auteur . - p.1677-1689. Langues : Anglais (eng) in Autism > 28-7 (July 2024) . - p.1677-1689 Mots-clés : autism spectrum disorder  direct gaze  infant development  live eye tracking Index. décimale : PER Périodiques Résumé : Being looked at is an important communicative signal, and attenuated responses to such direct gaze have been suggested as an early sign of autism. Using live eye tracking, we examined whether direct gaze elicits different gaze responses in infants at ages 10, 14 and 18 months with and without later autism in real-life interaction. The sample consisted of 169 infants: 35 with elevated likelihood of autism and subsequent diagnosis, 94 without subsequent diagnosis and 40 with typical likelihood of autism. Infants in all groups tended to look more towards the adult?s face shortly after the direct gaze occurred. Neither how much nor how quickly the infants responded to the direct gaze differentiated the without elevated likelihood of autism and subsequent diagnosis and with elevated likelihood of autism and subsequent diagnosis groups. Infants in the typical likelihood group looked more at the face after the direct-gaze event than infants in the two elevated likelihood groups, but this result is tentative. In an exploratory analysis, infants in the elevated likelihood of autism and subsequent diagnosis group looked away quicker from faces with direct gaze than infants in the typical likelihood group, but this measure did not correlate with dimensional autism or differentiate between the two elevated likelihood groups. The current results suggest that attenuated behavioural responses to direct gaze in infancy are neither strong nor specific early markers of autism. Lay abstract When other people look directly towards us, we often respond by looking back at them, and such direct-gaze responses are important for establishing eye contact. Atypical eye contact is common in autism, but how and when this aspect of autism develops is not well understood. Here, we studied whether how much and how quickly infants respond to others' direct gaze is associated with autism in toddlerhood. We did this by measuring direct-gaze responses in a playful social interaction using live eye tracking. The study included 169 infants, of whom 129 had an elevated likelihood of developing autism due to having a first-degree family member with the condition, and 40 with typical likelihood of autism. In the elevated likelihood group, 35 were diagnosed with autism spectrum disorder at 3 years of age, and 94 were not. The results showed that infants in all three groups tended to increase their looking towards the adult?s face after the adult looked directly at them. However, neither how much nor how quickly the infants responded to direct gaze by looking back at the adult reliably differentiated the infants with or without subsequent autism. While infants in the elevated likelihood of autism and subsequent diagnosis group tended to look away quicker from faces with direct gaze than infants in the typical likelihood group, this measure did not differentiate between the two elevated likelihood groups. We interpret the results as supporting the view that atypical direct-gaze responses are not early markers of autism. En ligne : https://dx.doi.org/10.1177/13623613231203037 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=531

Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder / Giorgia BUSSU in Molecular Autism, 10 (2019)  

Public ISBD [article]  inMolecular Autism > 10 (2019) . - 13 p. Titre : Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder Type de document : texte imprimé Auteurs : Giorgia BUSSU, Auteur ; Emily Jane Harrison JONES, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur ; Jan K. BUITELAAR, Auteur Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Adaptive behaviour  Autism  Infant siblings  Subgroups  Trajectories  Central NREC (approval codes 06/MRE02/73, 08/H0718/76), and one or both parents  gave informed consent to participate in the study.Not applicable.JKB has been a  consultant to/member of, an advisory board of, and/or a speaker for Janssen Cilag  BV, Eli Lilly, Lundbeck, Shire, Roche, Novartis, Medice, and Servier. He is  neither an employee nor a stock shareholder of any of these companies. TC has  received research grant support from the Medical Research Council (UK), the  National Institute of Health Research, Horizon 2020 and the Innovative Medicines  Initiative (both European Commission), MQ, Autistica, FP7 (European Commission),  the Charles Hawkins Fund, and the Waterloo Foundation. He has served as a  consultant to F. Hoffmann-La Roche, Ltd. He has received royalties from Sage  Publications and Guilford Publications. The present work is unrelated to these  relationships. The other authors declare that they have no competing  interests.Springer Nature remains neutral with regard to jurisdictional claims in  published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early development of adaptive behaviour relates to ASD outcome in toddlerhood. This study aims to identify subgroups of infants based on early development of adaptive skills and investigate their association with later ASD outcome. Methods: Adaptive behaviour was assessed on infants at high (n = 166) and low (n = 74) familial risk for ASD between 8 and 36 months using the Vineland Adaptive Behavior Scales (VABS-II). The four domains of VABS-II were modelled in parallel using growth mixture modelling to identify distinct classes of infants based on adaptive behaviour. Then, we associated class membership with clinical outcome and ASD symptoms at 36 months and longitudinal measures of cognitive development. Results: We observed three classes characterised by decreasing trajectories below age-appropriate norms (8.3%), stable trajectories around age-appropriate norms (73.8%), and increasing trajectories reaching average scores by age 2 (17.9%). Infants with declining adaptive behaviour had a higher risk (odds ratio (OR) = 4.40; confidence interval (CI) 1.90; 12.98) for ASD and higher parent-reported symptoms in the social, communication, and repetitive behaviour domains at 36 months. Furthermore, there was a discrepancy between adaptive and cognitive functioning as the class with improving adaptive skills showed stable cognitive development around average scores. Conclusions: Findings confirm the heterogeneity of trajectories of adaptive functioning in infancy, with a higher risk for ASD in toddlerhood linked to a plateau in the development of adaptive functioning after the first year of life. En ligne : https://dx.doi.org/10.1186/s13229-019-0264-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389 [article] Latent trajectories of adaptive behaviour in infants at high and low familial risk for autism spectrum disorder [texte imprimé] / Giorgia BUSSU, Auteur ; Emily Jane Harrison JONES, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur ; Jan K. BUITELAAR, Auteur . - 13 p. Langues : Anglais (eng) in Molecular Autism > 10 (2019) . - 13 p. Mots-clés : Adaptive behaviour  Autism  Infant siblings  Subgroups  Trajectories  Central NREC (approval codes 06/MRE02/73, 08/H0718/76), and one or both parents  gave informed consent to participate in the study.Not applicable.JKB has been a  consultant to/member of, an advisory board of, and/or a speaker for Janssen Cilag  BV, Eli Lilly, Lundbeck, Shire, Roche, Novartis, Medice, and Servier. He is  neither an employee nor a stock shareholder of any of these companies. TC has  received research grant support from the Medical Research Council (UK), the  National Institute of Health Research, Horizon 2020 and the Innovative Medicines  Initiative (both European Commission), MQ, Autistica, FP7 (European Commission),  the Charles Hawkins Fund, and the Waterloo Foundation. He has served as a  consultant to F. Hoffmann-La Roche, Ltd. He has received royalties from Sage  Publications and Guilford Publications. The present work is unrelated to these  relationships. The other authors declare that they have no competing  interests.Springer Nature remains neutral with regard to jurisdictional claims in  published maps and institutional affiliations. Index. décimale : PER Périodiques Résumé : Background: Autism spectrum disorder (ASD) is characterised by persisting difficulties in everyday functioning. Adaptive behaviour is heterogeneous across individuals with ASD, and it is not clear to what extent early development of adaptive behaviour relates to ASD outcome in toddlerhood. This study aims to identify subgroups of infants based on early development of adaptive skills and investigate their association with later ASD outcome. Methods: Adaptive behaviour was assessed on infants at high (n = 166) and low (n = 74) familial risk for ASD between 8 and 36 months using the Vineland Adaptive Behavior Scales (VABS-II). The four domains of VABS-II were modelled in parallel using growth mixture modelling to identify distinct classes of infants based on adaptive behaviour. Then, we associated class membership with clinical outcome and ASD symptoms at 36 months and longitudinal measures of cognitive development. Results: We observed three classes characterised by decreasing trajectories below age-appropriate norms (8.3%), stable trajectories around age-appropriate norms (73.8%), and increasing trajectories reaching average scores by age 2 (17.9%). Infants with declining adaptive behaviour had a higher risk (odds ratio (OR) = 4.40; confidence interval (CI) 1.90; 12.98) for ASD and higher parent-reported symptoms in the social, communication, and repetitive behaviour domains at 36 months. Furthermore, there was a discrepancy between adaptive and cognitive functioning as the class with improving adaptive skills showed stable cognitive development around average scores. Conclusions: Findings confirm the heterogeneity of trajectories of adaptive functioning in infancy, with a higher risk for ASD in toddlerhood linked to a plateau in the development of adaptive functioning after the first year of life. En ligne : https://dx.doi.org/10.1186/s13229-019-0264-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=389

Prediction of Autism at 3 Years from Behavioural and Developmental Measures in High-Risk Infants: A Longitudinal Cross-Domain Classifier Analysis / Giorgia BUSSU in Journal of Autism and Developmental Disorders, 48-7 (July 2018)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2418-2433 Titre : Prediction of Autism at 3 Years from Behavioural and Developmental Measures in High-Risk Infants: A Longitudinal Cross-Domain Classifier Analysis Type de document : texte imprimé Auteurs : Giorgia BUSSU, Auteur ; Emily Jane Harrison JONES, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur ; Jan K. BUITELAAR, Auteur Article en page(s) : p.2418-2433 Langues : Anglais (eng) Mots-clés : Autism  Data integration  Early prediction  High-risk  Individual prediction  Longitudinal study  Machine learning Index. décimale : PER Périodiques Résumé : We integrated multiple behavioural and developmental measures from multiple time-points using machine learning to improve early prediction of individual Autism Spectrum Disorder (ASD) outcome. We examined Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales, and early ASD symptoms between 8 and 36 months in high-risk siblings (HR; n = 161) and low-risk controls (LR; n = 71). Longitudinally, LR and HR-Typical showed higher developmental level and functioning, and fewer ASD symptoms than HR-Atypical and HR-ASD. At 8 months, machine learning classified HR-ASD at chance level, and broader atypical development with 69.2% Area Under the Curve (AUC). At 14 months, ASD and broader atypical development were classified with approximately 71% AUC. Thus, prediction of ASD was only possible with moderate accuracy at 14 months. En ligne : http://dx.doi.org/10.1007/s10803-018-3509-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367 [article] Prediction of Autism at 3 Years from Behavioural and Developmental Measures in High-Risk Infants: A Longitudinal Cross-Domain Classifier Analysis [texte imprimé] / Giorgia BUSSU, Auteur ; Emily Jane Harrison JONES, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur ; Jan K. BUITELAAR, Auteur . - p.2418-2433. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 48-7 (July 2018) . - p.2418-2433 Mots-clés : Autism  Data integration  Early prediction  High-risk  Individual prediction  Longitudinal study  Machine learning Index. décimale : PER Périodiques Résumé : We integrated multiple behavioural and developmental measures from multiple time-points using machine learning to improve early prediction of individual Autism Spectrum Disorder (ASD) outcome. We examined Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales, and early ASD symptoms between 8 and 36 months in high-risk siblings (HR; n = 161) and low-risk controls (LR; n = 71). Longitudinally, LR and HR-Typical showed higher developmental level and functioning, and fewer ASD symptoms than HR-Atypical and HR-ASD. At 8 months, machine learning classified HR-ASD at chance level, and broader atypical development with 69.2% Area Under the Curve (AUC). At 14 months, ASD and broader atypical development were classified with approximately 71% AUC. Thus, prediction of ASD was only possible with moderate accuracy at 14 months. En ligne : http://dx.doi.org/10.1007/s10803-018-3509-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=367

Temperament as an Early Risk Marker for Autism Spectrum Disorders? A Longitudinal Study of High-Risk and Low-Risk Infants / Mirjam K.J. PIJL in Journal of Autism and Developmental Disorders, 49-5 (May 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.1825-1836 Titre : Temperament as an Early Risk Marker for Autism Spectrum Disorders? A Longitudinal Study of High-Risk and Low-Risk Infants Type de document : texte imprimé Auteurs : Mirjam K.J. PIJL, Auteur ; Giorgia BUSSU, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur ; Emily Jane Harrison JONES, Auteur ; Greg PASCO, Auteur ; Iris J. OOSTERLING, Auteur ; Nanda N. ROMMELSE, Auteur ; Jan K. BUITELAAR, Auteur Article en page(s) : p.1825-1836 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  High-risk  Longitudinal  Machine learning  Temperament Index. décimale : PER Périodiques Résumé : To investigate temperament as an early risk marker for autism spectrum disorder (ASD), we examined parent-reported temperament for high-risk (HR, n = 170) and low-risk (LR, n = 77) siblings at 8, 14, and 24 months. Diagnostic assessment was performed at 36 months. Group-based analyses showed linear risk gradients, with more atypical temperament for HR-ASD, followed by HR-Atypical, HR-Typical, and LR siblings. Temperament differed significantly between outcome groups (0.03 En ligne : http://dx.doi.org/10.1007/s10803-018-3855-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393 [article] Temperament as an Early Risk Marker for Autism Spectrum Disorders? A Longitudinal Study of High-Risk and Low-Risk Infants [texte imprimé] / Mirjam K.J. PIJL, Auteur ; Giorgia BUSSU, Auteur ; Tony CHARMAN, Auteur ; Mark Henry JOHNSON, Auteur ; Emily Jane Harrison JONES, Auteur ; Greg PASCO, Auteur ; Iris J. OOSTERLING, Auteur ; Nanda N. ROMMELSE, Auteur ; Jan K. BUITELAAR, Auteur . - p.1825-1836. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-5 (May 2019) . - p.1825-1836 Mots-clés : Autism spectrum disorder  High-risk  Longitudinal  Machine learning  Temperament Index. décimale : PER Périodiques Résumé : To investigate temperament as an early risk marker for autism spectrum disorder (ASD), we examined parent-reported temperament for high-risk (HR, n = 170) and low-risk (LR, n = 77) siblings at 8, 14, and 24 months. Diagnostic assessment was performed at 36 months. Group-based analyses showed linear risk gradients, with more atypical temperament for HR-ASD, followed by HR-Atypical, HR-Typical, and LR siblings. Temperament differed significantly between outcome groups (0.03 En ligne : http://dx.doi.org/10.1007/s10803-018-3855-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=393

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