Velleman Shelley L, Mervis Carolyn B
Department of Communication Sciences and Disorders, 402 Pomeroy, 489 Main Street, University of Vermont, Burlington VT 05405,
Perspect Lang Learn Educ. 2011 Oct 1;18(3):108-116. doi: 10.1044/lle18.3.108.
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.
7q11.23重复综合征是一种最近记录在案的遗传性疾病，与严重的言语延迟、语言发育迟缓、特殊面容、肌张力减退、发育迟缓及社交焦虑有关。在社交舒适的情境中可表现出发育适当的非言语语用能力。运动性言语障碍（儿童言语失用症和/或构音障碍）、口失用症和/或语音障碍或这些障碍的症状很常见，与表达性语言障碍相符的特征也是如此。强化言语/语言治疗对于实现最佳长期效果至关重要。
