The diagnosis of Sex Chromosome Trisomy (SCT) is increasing rapidly worldwide. About 1 in 650-1000 children are born with an extra X or Y chromosome. These common chromosomal abnormalities,...Show moreThe diagnosis of Sex Chromosome Trisomy (SCT) is increasing rapidly worldwide. About 1 in 650-1000 children are born with an extra X or Y chromosome. These common chromosomal abnormalities, including XXY/Klinefelter syndrome, XXX/Trisomy X and XYY syndrome, affect both physical development and behaviour. There is an increased risk of behavioural problems, including autism spectrum disorder (ASD) symptoms, in children with SCT (Rijn, 2019; Tartaglia et al., 2010; Urbanus, 2022). Despite these findings, there has been limited research on the variations in ASD characteristics in children with SCT and possible protective and risk factors. Therefore, this study aims to better understand the characteristics of ASD in children with SCT, identify possible protective and risk factors related to parenting skills for this group, and ultimately optimise support measures, early detection and appropriate interventions for this specific genetic population. For this purpose, the following research question was formulated; Is there a difference in the level of ASD characteristics in children with SCT 3-7 years compared to peers? And to what extent do the parenting skills (mentalisation and sensitivity) of parents with children aged 3-7 years with SCT correlate with the level of autism spectrum disorder (ASD) characteristics of this specific population? Data for this study is selected from a larger quantitative study conducted by Leiden University and the TRIXY Centre of Expertise. Children with SCT and their parents were recruited through support groups and clinical genetics departments in hospitals in the Netherlands, Belgium and the US. The control group was recruited from nurseries, public locations and primary schools. The study includes 145 children aged between 3 and 7 years, with 71 participants in control group and 74 participants in the SCT group. This study showed that a significant difference was found in the level of autism traits between children with SCT and children without SCT. Children with SCT scored significantly higher on every autism trait that was tested. In addition, no correlation was found between parenting skills; sensitivity and mentalisation and the level of autism traits in children with SCT. Based on this, a dimensional approach, rather than a binary criterion, is recommended as this could help detect subtle variations and gradations in ASD symptoms earlier, enabling early diagnosis. In addition, this research outcome implies that other factors such as biological, neurological and other environmental factors may have a greater influence on the level of ASD characteristics in children with SCT. More research needs to be done on this to say this with great certainty. This study is limited by no distinguish between different types of sex chromosome trisomy, which may limit the generalisability of the results. In addition, the study included children aged 3-7 years, but at this stage children develop rapidly, and ASD traits may manifest differently depending on age, which may limit the generalisability of the results to any age between 3 and 7 years. Besides these limitations, the study also has many strengths, such as contributing to increasing scientific knowledge about ASD traits in children with SCT, early detection of these and possible risk and protective factors.Show less
