ABSTRACT

Children with sex chromosome trisomy (SCT) are at increased risk for developing language difficulties. Earlier studies have reported that as many as 70–80% of individuals with SCT show some form of language difficulties. Language develops rapidly in the first years of life; knowledge about language development at an early age is needed. The present study aims to identify the language abilities of young children with SCT across multiple language domains and to identify the percentage of children that, according to clinical guidelines, have language difficulties. Children between the ages of 1–6-years (N_SCT = 103, N_controls = 102) were included. Nonverbal communication, early vocabulary, semantic, syntax, and phonological skills were assessed. Language difficulties were already present in 1-year-old children with SCT and across the age range in various language domains. Clinical classification showed that, depending on the assessed domain, 14.8–50.0% of the children scored below the 16^th percentile. There was no effect of time of diagnosis, ascertainment bias, research site, nor SCT specific karyotype (XXX, XXY, XYY) on language outcomes. Overall, language difficulties can already be present in very young children with SCT within various language domains. These findings appear to be robust within the SCT group. These results highlight the importance of monitoring both receptive and expressive language development already at the earliest stages of nonverbal communication. Finally, as early language skills are the building blocks for later social communication, literacy, and self-expression, studies that investigate the effect of early interventions on later language outcomes are warranted.

摘要

患有性染色体三体 (SCT) 的儿童出现语言困难的风险增加。早期的研究报告称，多达 70-80% 的 SCT 患者表现出某种形式的语言困难。语言在生命的最初几年迅速发展；需要从小就了解语言发展的知识。本研究旨在确定 SCT 幼儿跨多个语言领域的语言能力，并根据临床指南确定有语言困难的儿童的百分比。1-6 岁儿童（N _SCT  = 103，N_对照 = 102) 被包括在内。评估了非语言交流、早期词汇、语义、句法和语音技能。患有 SCT 的 1 岁儿童和各个年龄段的不同语言领域已经存在语言困难。临床分类显示，根据评估的领域，14.8-50.0% 的儿童得分低于 16^岁百分位。诊断时间、确定偏倚、研究地点和 SCT 特异性核型（XXX、XXY、XYY）对语言结果没有影响。总体而言，在不同语言领域的 SCT 幼儿中可能已经存在语言困难。这些发现在 SCT 组中似乎是可靠的。这些结果强调了在非语言交流的最初阶段监测接受性和表达性语言发展的重要性。最后，由于早期语言技能是后期社会交流、识字和自我表达的基石，因此有必要进行调查早期干预对后期语言结果影响的研究。