Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children.
Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children.
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DOI：
10.1080/140154301300109044
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发表时间：
2001-01-01
期刊：
影响因子：
--
通讯作者：
Stromme, P
中科院分区：
文献类型：
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作者：
Andersen, W H;Rasmussen, R K;Stromme, P
Angelman综合征（AS）是一种与严重发育迟缓相关的遗传性疾病。本研究旨在探讨AS患者的认知和语言发展。皮亚杰的发展模型被用来评估测试结果。参与者包括20名儿童（14名男孩和6名女孩），年龄在2-14岁之间（中位年龄为7.4岁）。根据典型的临床标准或确证性基因检测诊断AS。认知功能采用Griffiths智力发育量表评定。语言发展也进行了评估与感受-表达的新兴语言量表2（REEL-2）。认知功能，基于性能量表的结果，从未超过皮亚杰的感觉运动阶段，0-2岁。语言发育的中位智力年龄为9个月。表达性词汇包括少于2个词（n = 11），2-3个词（n = 7）和4-5个词（n = 2）。根据REEL-2的分析并没有表明令人印象深刻的语言和表达语言之间存在一致的差异。
Angelman syndrome (AS) is a genetic disorder associated with severe developmental delay. The purpose of this study was to investigate cognitive and linguistic development in AS. Piaget's developmental model was used to evaluate the test results. The participants comprised 20 children (14 boys and 6 girls) aged 2-14 years (median age 7.4 years). AS was diagnosed either according to typical clinical criteria or confirmatory genetic testing. Cognitive functioning was evaluated with Griffiths' Mental Development Scale. Language development was also evaluated with Receptive-Expressive Emergent Language Scale 2 (REEL-2). Cognitive functioning, based on results on the Performance Scale, never exceeded Piaget's sensorimotor stage, 0-2 years. The median mental age for language development was 9 months. Expressive verbal vocabulary consisted of less than 2 words (n = 11), 2-3 words (n = 7) and 4-5 words (n = 2). Analyses according to REEL-2 did not indicate a consistent discrepancy between impressive and expressive language.