Zampini Laura, Provera Alessandra, Zanchi Paola, Silibello Gaia, Mastromattei Domenica, Angeleri Francesca, Costantino Maria Antonella, Ajmone Paola Francesca
Department of Psychology, University of Milano-Bicocca, Milan, Italy.
Department of Psychology, University of Bologna, Italy.
J Speech Lang Hear Res. 2025 Jul 8;68(7):3226-3238. doi: 10.1044/2025_JSLHR-24-00808. Epub 2025 Jun 16.
This study investigated the language and cognitive skills of preschool children with sex chromosome trisomies (SCTs) with and without a co-diagnosis of developmental language disorder (DLD), considering possible differences between SCT types (i.e., XXX, XXY, and XYY).
Fifty-five children with a prenatally diagnosed SCT (19 XXX, 25 XXY, and 11 XYY) aged 48-64 months were included in the study. The presence of a DLD diagnosis or other neurodevelopmental disorder was established by structured interviews, while cognitive and language skills were assessed using a test battery including the Wechsler Preschool and Primary Scale of Intelligence-Third Edition, Test for Reception of Grammar-Second Edition, and selected Batteria per la Valutazione del Linguaggio in Bambini dai 4 ai 12 anni () subtests.
Of the 55 children, 44 (76.4%) had a diagnosis of DLD at this stage. Cognitive assessments showed no significant differences in Performance IQ, Verbal IQ, and Processing Speed Quotient in children with SCTs. However, children with SCTs and co-occurring DLD scored lower than those without DLD in the last two areas. Language assessment revealed notable impairments, particularly in speech sound accuracy and repetition tasks, with children with a co-occurrent diagnosis of SCT and DLD reporting greater impairments. No significant differences in the prevalence of DLD were observed between SCT types.
These findings highlight the importance of early identification and intervention on co-occurrent neurodevelopmental disorders in the population of children with SCTs. Further research should explore language and learning trajectories in the population of children with DLD with and without a co-occurring genetic diagnosis to better differentiate developmental characteristics and allow for effective tailored interventions.
本研究调查了患有和未患有发育性语言障碍（DLD）共诊断的性染色体三体（SCT）学龄前儿童的语言和认知技能，同时考虑了SCT类型（即XXX、XXY和XYY）之间可能存在的差异。
本研究纳入了55名产前诊断为SCT的儿童（19名XXX、25名XXY和11名XYY），年龄在48 - 64个月之间。通过结构化访谈确定是否存在DLD诊断或其他神经发育障碍，同时使用包括韦氏学前和小学智力量表第三版、语法接受测试第二版以及4至12岁儿童语言评估量表（）部分子测试在内的测试组合来评估认知和语言技能。
在这55名儿童中，44名（76.4%）在这个阶段被诊断为DLD。认知评估显示，患有SCT的儿童在操作智商、言语智商和处理速度商数方面没有显著差异。然而，患有SCT且同时患有DLD的儿童在最后两个方面的得分低于未患有DLD的儿童。语言评估显示出明显的损伤，特别是在语音准确性和重复任务方面，同时患有SCT和DLD的儿童损伤更为严重。在SCT类型之间，未观察到DLD患病率的显著差异。
这些发现凸显了对患有SCT的儿童群体中同时出现的神经发育障碍进行早期识别和干预的重要性。进一步的研究应探索患有和未患有共发性基因诊断的DLD儿童群体的语言和学习轨迹，以更好地区分发育特征并实现有效的针对性干预。
