ABSTRACT

The phenotype of triple X syndrome comprises a variety of physical, psychiatric, and cognitive features. Recent evidence suggests that patients are prone to severe language impairments. However, it remains unclear whether verbal impairments are pervasive at all levels of language, or whether one domain is relatively more spared than others. Here we document the language profile of one patient with triple X, using standardized language tests and reports. Results concur in showing that impairments are noticeable both in expressive and receptive language skills, and in vocabulary as well as in structural components of language. Although receptive ability in some tests appears relatively spared, even here A’s performance is clearly below average. This single case study further underscores that language and communication at all levels can be severely compromised in patients with triple X. Practitioners should be aware of the limited language abilities that possibly exist in patients with triple X.

摘要

三重X综合征的表型包括多种生理，精神和认知特征。最近的证据表明，患者容易出现严重的语言障碍。但是，目前尚不清楚在所有语言水平上口语障碍是否普遍存在，或者一个域是否相对比其他域更幸免。在这里，我们使用标准化的语言测试和报告来记录一名三重X患者的语言档案。结果表明，在表达和接受的语言技能，词汇以及语言的结构成分中，障碍都很明显。尽管在某些测试中接受能力似乎相对较弱，但即使在这里A的表现也明显低于平均水平。