Zampini Laura, Zanchi Paola, D'Odorico Laura
Department of Psychology, University of Milano-Bicocca , Milan , Italy.
Clin Linguist Phon. 2014 Nov;28(11):844-56. doi: 10.3109/02699206.2014.911963. Epub 2014 Apr 29.
This study aimed to assess the communicative skills of children and young adults with ring 14 syndrome and linear 14q deletions, investigating the relationships among their language development and their genetic, clinical, psychomotor and behavioural characteristics. Participants were 36 individuals with chromosome 14 aberrations whose parents completed a questionnaire, specifically developed in five languages, to assess their son's/daughter's development. Data analysis showed that chronological age does not account for the high individual variability found in the participants' skills. The comparison between participants with ring 14 syndrome and participants with 14q linear deletions showed that the former were characterised by a higher occurrence of epilepsy, abnormalities of the retina and autism. The participants with smaller amounts of deleted genetic material were those who had a higher level of language development. Because ring 14 syndrome is a rare genetic disease, the collection of data from a large group of individuals could be helpful to create expectations about the possible developmental outcomes of these children.
本研究旨在评估患有14号环状染色体综合征和14q线性缺失的儿童及青年的沟通能力，探究其语言发展与基因、临床、心理运动及行为特征之间的关系。研究参与者为36名患有14号染色体畸变的个体，他们的父母填写了一份专门用五种语言编制的问卷，以评估其子女的发育情况。数据分析表明，实际年龄并不能解释参与者技能中存在的高度个体差异。对患有14号环状染色体综合征的参与者和患有14q线性缺失的参与者进行比较发现，前者的特征是癫痫、视网膜异常和自闭症的发生率较高。基因物质缺失量较少的参与者语言发展水平较高。由于14号环状染色体综合征是一种罕见的遗传病，从一大群个体中收集数据可能有助于对这些儿童可能的发育结果形成预期。
