Background: About 1:650–1000 children are born with an extra X or Y chromosome (47,XXX; 47,XXY; 47,XYY), which results in a sex chromosome trisomy (SCT). This international cross-sectional study... Show moreBackground: About 1:650–1000 children are born with an extra X or Y chromosome (47,XXX; 47,XXY; 47,XYY), which results in a sex chromosome trisomy (SCT). This international cross-sectional study was designed to investigate gaze towards faces and afect recognition during early life of children with SCT, with the aim to fnd indicators for support and treatment. Methods: A group of 101 children with SCT (aged 1–7 years old; Mage= 3.7 years) was included in this study, as well as a population-based sample of 98 children without SCT (Mage= 3.7). Eye gaze patterns to faces were measured using an eye tracking method that quantifes frst fxations and fxation durations on eyes of static faces and fxation durations on eyes and faces in a dynamic paradigm (with two conditions: single face and multiple faces). Affect recognition was measured using the subtest Affect Recognition of the NEPSY-II neuropsychological test battery. Recruitment and assessment took place in the Netherlands and the USA. Results: Eye tracking results reveal that children with SCT show lower proportion fxation duration on faces already from the age of 3 years, compared to children without SCT. Also, impairments in the clinical range for afect recognition were found (32.2% of the SCT group scored in the well below average range). Conclusions: These results highlight the importance to further explore the development of social cognitive skills of children with SCT in a longitudinal design, the monitoring of afect recognition skills, and the implementation of (preventive) interventions aiming to support the development of attention to social important information and afect recognition. Show less
Bouw J.C.; Swaab J.T.; Tartaglia N.; jansen A.C.; Rijn S. van 2022
Sex chromosome trisomies (SCTs) are characterized by an extra X- or Y-chromosome(XXX, XXY, XYY). The present study aims to investigate early signs of social communica-tion and social emotional... Show moreSex chromosome trisomies (SCTs) are characterized by an extra X- or Y-chromosome(XXX, XXY, XYY). The present study aims to investigate early signs of social communica-tion and social emotional development in veryyoung children with SCT. Thirty-four chil-dren with SCT (aged 12–24 months) were included in this study, as well as 31 age-matched controls. Social communication was measured with structured behavior observa-tions according to the Early Social Communication Scales, and social emotional develop-mental level with the Bayley Social Emotional parental questionnaire. Recruitment andassessment took place in the Netherlands and in the United States. On average, 12–24-montholdchildrenwithSCTshoweddifficulties with early social communication, moreso in responding to others as compared to initiating social communications. During socialinteractions, children with SCT made less frequent eye contact, compared to controls.Also, difficulties in acquiring social emotional milestones were found in 1-year old childrenwith SCT, with 44% of the children having socialemotional vulnerabilities in the borderlineor extremely low range, compared to typicallydeveloping children. In this cohort, no sig-nificant predictive effects of karyotype-subtype (XXX, XXY, XYY) were found. Alreadyfrom a very early age, SCT can be associated with increased risk for vulnerabilities in adap-tive social functioning. These findings suggest that SCT impact the maturation of the socialbrain already from an early age, and stress the importance of early monitoring and (pre-ventive) support early social development in young children with SCT. Show less
Bouw J.C.; Swaab J.T.; Tartaglia, N.; Wilson, R.L.; Velde, K. van der; Rijn S. van 2022
The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive... Show moreThe objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specifc genetic conditions that may serve as naturalistic ‘at risk’ models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1–8 years) was included at baseline of this longitudinal study. Joint Attention was measured at baseline with structured behavior observations according to the Early Social Communication Scales. ASD symptoms were assessed with the Modifed Checklist for Autism in Toddlers questionnaire and Autism Diagnostic Interview-Revised in a 1-year follow-up. Recruitment and assessment took place in the Netherlands and in the United States. The results demonstrate that ASD symptoms were substantially higher in children with SCT compared to the general population, with 22% of our cohort at clinical risk for ASD, especially in the domain of social interaction and communication. Second, a predictive value of Joint Attention was found for ASD symptoms at 1-year follow-up. In this cohort, no diferences were found between karyotype-subtypes. In conclusion, from a very early age, SCT can be associated with an increased risk for vulnerabilities in adaptive social functioning. These fndings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These fndings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT. Show less
