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7q11.23重复综合征患儿:言语、语言、认知和行为特征及其对干预的启示

Children with 7q11.23 Duplication Syndrome: Speech, Language, Cognitive, and Behavioral Characteristics and their Implications for Intervention.

作者信息

Velleman Shelley L, Mervis Carolyn B

机构信息

Department of Communication Sciences and Disorders, 402 Pomeroy, 489 Main Street, University of Vermont, Burlington VT 05405,

出版信息

Perspect Lang Learn Educ. 2011 Oct 1;18(3):108-116. doi: 10.1044/lle18.3.108.

Abstract

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.

摘要

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。

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