Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report

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.

KEYWORDS:

• Triple X syndrome
• X chromosome
• sex chromosomal aneuploidies
• language impairments
• language domains

Notes

^a Checks for internal consistency are required when (corrected) strengths exceed 31 points (max is 60), suggesting that she sometimes shows signs of strong communicative behavior. Careful reading of the questionnaire revealed that while both parents consider her strengths as strong (mother: 51 points; father: 50 points), her father considered her weaknesses as noteworthy (problem score 54 out of 120 max) whereas her mother did not: (problem score 19 points out of 120 max).