Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention.
Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention.
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DOI：
10.1007/s00787-022-02070-y
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发表时间：
2023-11
影响因子：
6.4
通讯作者：
van Rijn, Sophie
中科院分区：
文献类型：
--
作者：
Bouw, Nienke;Swaab, Hanna;Tartaglia, Nicole;Wilson, Rebecca L.;Van der Velde, Kim;van Rijn, Sophie
本研究的目的是探讨性染色体三体（SCT； XXX， XXY， XYY）对自闭症谱系障碍（ASD）症状早期出现的影响，以及联合注意对ASD症状的预测价值。sct是特定的遗传条件，可以作为神经发育的自然“风险”模型，因为它们与神经行为脆弱性的风险增加有关。一组82名SCT患儿（年龄1-8岁）被纳入这项纵向研究的基线。根据早期社会沟通量表，在基线上用结构化的行为观察来测量共同注意力。在1年的随访中，使用修改后的幼儿自闭症问卷和自闭症诊断访谈来评估ASD症状。征聘和评估工作在荷兰和美国进行。结果表明，与一般人群相比，SCT患儿的ASD症状明显更高，我们的队列中有22%的人有ASD的临床风险，特别是在社会互动和沟通方面。其次，在1年的随访中发现联合注意对ASD症状有预测价值。在这个队列中，核型亚型之间没有发现差异。总之，从很小的时候起，SCT就可能与适应性社会功能脆弱性的风险增加有关。这些发现表明，从儿童早期开始，额外的X或Y染色体对社会适应发展的神经发育影响就与患自闭症的风险有关。这些发现提倡密切监测和早期（预防性）支持，旨在优化SCT幼儿的社会发展。
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 value of Joint Attention for symptoms of ASD. SCTs are specific 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 Modified 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 differences 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 findings 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 findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.
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