Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.
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患有 7q11.23 重复综合症的儿童：言语、语言、认知和行为特征及其对干预的影响。
DOI：
10.1044/lle18.3.108
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发表时间：
2011
期刊：
影响因子：
--
通讯作者：
Mervis,CarolynB
中科院分区：
文献类型：
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作者：
Velleman,ShelleyL;Mervis,CarolynB
7q11.23重复综合征是一种最近发现的遗传性疾病，与严重的言语延迟、语言延迟、特征性面容、张力减退、发育延迟和社交焦虑相关。患有这种综合征的儿童在社交舒适的情况下表现出发育适当的非言语语用能力。运动性言语障碍（儿童期言语失用症和/或构音障碍）、口腔失用症和/或语音障碍或这些障碍的症状很常见，表现性语言障碍的特征也很常见。强化言语/语言治疗对于最大限度地提高长期效果至关重要。
7q11.23 duplication syndrome is a recently documented genetic disorder associated with severe speech delay, language delay, a characteristic facies, hypotonia, developmental delay, and social anxiety. Children with this syndrome demonstrate developmentally appropriate nonverbal pragmatic abilities in socially comfortable situations. Motor speech disorder (childhood apraxia of speech and/or dysarthria), oral apraxia, and/or phonological disorder, or symptoms of these disorders, are common, as are characteristics consistent with expressive language disorder. Intensive speech/language therapy is critical for maximizing long-term outcomes.