Zampini Laura, Zanchi Paola, Rinaldi Berardo, Novara Francesca, Zuffardi Orsetta
Dipartimento di Psicologia, Università degli Studi di Milano-Bicocca, Piazza dell'Ateneo Nuovo 1, 20126, Milan, Italy.
Dipartimento Medicina Molecolare, Università degli Studi di Pavia, Via Forlanini 6, 27100, Pavia, Italy.
Eur J Pediatr. 2017 Apr;176(4):455-464. doi: 10.1007/s00431-017-2859-2. Epub 2017 Jan 25.
Children with chromosome 14 aberrations usually show developmental delays, intellectual disability, neurological disorders and behaviour problems. The aim of the present study is to describe the developmental trajectories of the communicative skills of children with chromosome 14 aberrations, considering the possible relationships between the patterns of language development and the children's clinical characteristics (e.g., intellectual disability or autistic traits). Longitudinal data on five children (four with linear deletions and one with ring 14 syndrome) followed for 3 years are presented. Four out of five children showed profound intellectual disability, and three out of five showed autistic traits. A high individual variability was found in both vocal and gestural productions. However, only a modest increase in the children's communicative and symbolic skills was detected over time (e.g., in the quality of preverbal productions).
The increase of communicative skills in children with chromosome 14 aberration is very slow. We need to consider the children's characteristics, in terms of type of chromosome aberration, level of intellectual disability and presence/absence of autistic traits, to predict their possible linguistic outcomes and to give a more realistic expectation to their parents. What is known: • The communicative skills of children with chromosome 14 aberrations are usually impaired. • The presence of autistic traits is frequent in these children. What is new: • The increase of communicative skills in children with chromosome 14 aberrations is very slow. • The level of intellectual disability and the presence/absence of autistic traits appeared to have a role in predicting the possible linguistic outcomes in children with chromosome 14 aberrations.
患有14号染色体畸变的儿童通常表现出发育迟缓、智力残疾、神经障碍和行为问题。本研究的目的是描述患有14号染色体畸变儿童的沟通技能发展轨迹，同时考虑语言发展模式与儿童临床特征（如智力残疾或自闭症特征）之间的可能关系。本文呈现了对5名儿童（4名患有线性缺失，1名患有14号环状染色体综合征）进行3年随访的纵向数据。5名儿童中有4名表现出严重智力残疾，5名中有3名表现出自闭症特征。在发声和手势表达方面均发现了较高的个体差异。然而，随着时间的推移，仅检测到儿童的沟通和象征技能有适度提高（如前语言表达的质量）。
患有14号染色体畸变的儿童沟通技能增长非常缓慢。我们需要根据染色体畸变类型、智力残疾程度以及自闭症特征的有无来考虑儿童的特征，以预测他们可能的语言发展结果，并向其父母给出更现实的期望。已知信息：• 患有14号染色体畸变的儿童沟通技能通常受损。• 这些儿童中自闭症特征很常见。新发现：• 患有14号染色体畸变的儿童沟通技能增长非常缓慢。• 智力残疾程度以及自闭症特征的有无似乎在预测患有14号染色体畸变儿童可能的语言发展结果方面发挥作用。
