University of Milano-Bicocca, Milan Italy.
Foundation Irccs Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Dev Neurorehabil. 2022 Jul;25(5):337-348. doi: 10.1080/17518423.2021.2020925. Epub 2022 Jan 5.
Describing language development in children with sex chromosome trisomies (SCT) and testing the predictive value of early language measures on later outcomes.
Thirteen children with SCT were followed longitudinally. Their developmental profile was assessed, with particular attention to language, at 2 and 4 years. The predictive value of direct (spontaneous speech analysis) and indirect (communicative development inventory) language measures at 2 on performances at 4 was tested.
Language performances at both ages were lower than non-verbal development. At 2, more than 50% of the group produced less than 50 words. At 4, impaired performances were observed in speech sound development and expressive morpho-syntax. Direct measures of Pre-syntactic development predicted later global language outcomes and Sentence Repetition. The number of consonants used at 2 was significantly related to Nonword Repetition at 4.
The study highlights the importance of early detection and careful follow-up for children with SCT.
描述性染色体三体（SCT）患儿的语言发展，并检验早期语言测量对后期结果的预测价值。
对 13 名 SCT 患儿进行纵向随访。在 2 岁和 4 岁时对其发育情况进行评估，特别关注语言方面。检验了 2 岁时直接（自发语言分析）和间接（交际发展量表）语言测量对 4 岁时表现的预测价值。
两个年龄的语言表现都低于非言语发展。在 2 岁时，超过 50%的患儿词汇量少于 50 个。在 4 岁时，言语声音发展和表达形态句法方面存在受损表现。前语言发展的直接测量预测了后期整体语言结果和句子重复。2 岁时使用的辅音数量与 4 岁时的无意义重复显著相关。
本研究强调了早期发现和对 SCT 患儿进行仔细随访的重要性。
