ABSTRACT

Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental profiles.

Method: Twenty-three children with RSTS (12 boys; 11 girls; mean chronological age: 4 years and 10 months) with severe intellectual disability (mean developmental quotient = 32.39) were recruited from an Expert Department of Medical Genetics. Developmental assessments were carried out with the Brunet-Lézine-Revised scale and the Social Cognitive Evaluation Battery.

Results: The participants’ developmental profiles were characterised by heterogeneous psychomotor development, homogeneous cognitive and socio-emotional development, by more severe delays in expressive language, vocal imitation, and symbolic play skills, and by better developmental levels in socio-emotional abilities.

Conclusions: Based on these atypical developmental profiles, early interventions should target the three most delayed abilities.

抽象的

背景：鲁宾斯坦-塔比综合症（RSTS）是一种多发性先天性异常综合症，其特征是具有几种典型的躯体特征以及严重程度不同的发育障碍。重点研究患有RSTS的儿童，这项研究的目的是描述他们的心理运动，认知和社会情感发展概况。

方法：从医学遗传学专家部门招募了23名严重智力残疾（平均发育商= 32.39）的RSTS儿童（12名男孩； 11名女孩；平均年龄：4岁10个月）。用布鲁内特-莱辛修订量表和社会认知评估小组进行了发展评估。

结果：参与者的发展概况的特征是精神运动的异质发展，同质的认知和社会情感的发展，表现语言，声音模仿和符号演奏技巧的严重延迟以及社会情感能力的发展水平更高。

结论：基于这些非典型的发育情况，早期干预应针对三个最延迟的能力。