7q11.23重复综合征儿童:言语、语言、认知和行为特征及其干预意义

Shelley L Velleman, Carolyn B Mervis
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引用次数: 63

摘要

7q11.23重复综合征是最近发现的一种遗传性疾病,与严重的言语迟缓、语言迟缓、特征相、张力低下、发育迟缓和社交焦虑有关。发展相适应的非语言语用能力在社交舒适的环境中得到证明。运动言语障碍(儿童言语失用症和/或构音障碍)、口语失用症和/或语音障碍或这些障碍的症状是常见的,与表达性语言障碍的特征一致。强化言语/语言治疗对于最大化长期效果至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.

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. Developmentally appropriate nonverbal pragmatic abilities are demonstrated 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.

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