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首页> 外文期刊>Journal of intellectual & developmental disability >Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
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Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

机译:毒品脂蛋白综合征和严重的智力残疾儿童的精神接受者,认知和社会情绪发育谱

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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-Lezine-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.
机译:背景:Rubinstein-Taybi综合征(RSTS)是一种多发性先天性异常综合征,以几种典型的躯体特征和不同严重程度的发育障碍为特征。本研究以RST儿童为研究对象,旨在描述他们的精神运动、认知和社会情绪发展状况。方法:从医学遗传学专家部门招募23名患有严重智力残疾(平均发育商=32.39)的RST儿童(12名男孩;11名女孩;平均年龄:4岁10个月)。发展评估采用Brunet-Lezine修订量表和社会认知评估组合进行。结果:受试者的发展特征是心理运动发展的异质性、认知和社会情绪发展的同质性、表达语言、声音模仿和象征性游戏技能的严重延迟,以及社会情绪能力的更好发展水平。结论:基于这些非典型发育特征,早期干预应针对三种最迟的能力。

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