Zampini Laura, D'Odorico Laura, Zanchi Paola, Zollino Marcella, Neri Giovanni
Department of Psychology, University of Milano-Bicocca, Milan, Italy.
Clin Linguist Phon. 2012 Dec;26(11-12):962-73. doi: 10.3109/02699206.2012.728669.
The present study focussed on a specific type of rare genetic condition: chromosome 14 deletions. Children with this genetic condition often show developmental delays and brain and neurological problems, although the type and severity of symptoms varies depending on the size and location of the deleted genetic material. The specific aim of the present study was to describe the developmental trajectories of language skills in a group of children with linear 14q deletions. Four children with an interstitial deletion of the long arm of chromosome 14 were followed for 1 year. Data collected from psychomotor and linguistic assessments highlight a large individual variability. Considering the children's genetic and clinical conditions, findings revealed that the size of the deleted area is not related to outcome. However, the developmental trajectories of language development are deeply influenced by the presence of clinical conditions, such as autism spectrum disorders.
14号染色体缺失。患有这种遗传病的儿童通常会出现发育迟缓以及大脑和神经问题，不过症状的类型和严重程度会因缺失遗传物质的大小和位置而有所不同。本研究的具体目的是描述一组患有14q线性缺失的儿童语言技能的发展轨迹。对4名患有14号染色体长臂间质性缺失的儿童进行了为期1年的跟踪研究。从心理运动和语言评估中收集的数据突出了个体间的巨大差异。考虑到这些儿童的遗传和临床状况，研究结果显示缺失区域的大小与结果无关。然而，语言发展的轨迹受到诸如自闭症谱系障碍等临床状况的深刻影响。
