Clinical Neurodevelopmental Sciences, Leiden University, Leiden, the Netherlands.
Leiden Institute for Brain and Cognition, Leiden, the Netherlands.
Am J Med Genet A. 2022 Jul;188(7):1943-1953. doi: 10.1002/ajmg.a.62720. Epub 2022 Mar 14.
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 communication and social emotional development in very young children with SCT. Thirty-four children 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 observations according to the Early Social Communication Scales, and social emotional developmental level with the Bayley Social Emotional parental questionnaire. Recruitment and assessment took place in the Netherlands and in the United States. On average, 12-24-month old children with SCT showed difficulties with early social communication, more so in responding to others as compared to initiating social communications. During social interactions, children with SCT made less frequent eye contact, compared to controls. Also, difficulties in acquiring social emotional milestones were found in 1-year old children with SCT, with 44% of the children having social emotional vulnerabilities in the borderline or extremely low range, compared to typically developing children. In this cohort, no significant predictive effects of karyotype-subtype (XXX, XXY, XYY) were found. Already from a very early age, SCT can be associated with increased risk for vulnerabilities in adaptive social functioning. These findings suggest that SCT impact the maturation of the social brain already from an early age, and stress the importance of early monitoring and (preventive) support early social development in young children with SCT.
性染色体三体(SCT)的特征是额外的 X 或 Y 染色体(XXX、XXY、XYY)。本研究旨在探讨性染色体三体的非常年幼的儿童早期社会沟通和社会情感发展的迹象。本研究纳入了 34 名性染色体三体(12-24 个月龄)儿童,以及 31 名年龄匹配的对照组儿童。社会沟通采用早期社会沟通量表的结构化行为观察进行测量,社会情感发展水平采用贝利社会情感父母问卷进行测量。招募和评估在荷兰和美国进行。平均而言,12-24 个月大的性染色体三体儿童在早期社会沟通方面存在困难,与发起社会交流相比,对他人的反应更为困难。在社会互动中,与对照组相比,性染色体三体儿童的眼神交流频率较低。此外,还发现 1 岁大的性染色体三体儿童在获得社会情感里程碑方面存在困难,44%的儿童在社会情感方面存在脆弱性,处于边缘或极低范围,而正常发育的儿童则没有。在该队列中,未发现核型亚型(XXX、XXY、XYY)的显著预测效应。从非常年幼的时候起,SCT 就可能与适应性社会功能的脆弱性风险增加有关。这些发现表明,SCT 已经从早期开始影响社会大脑的成熟,并强调了早期监测和(预防性)支持 SCT 幼儿早期社会发展的重要性。