Klinefelter syndrome: a speech-language and neuropsychological assessment

ABSTRACT The Klinefelter syndrome is a chromosomal aneuploidy caused by additional X chromosomes in men. The diagnosis is made by clinical observation and karyotype examination. Besides other characteristics, the phenotype involves infertility, hypogonadism, gynecomastia, and cognitive alterations, mainly in the language domain. This paper describes the case of a teenager with Klinefelter syndrome and history of difficulties in the learning process, behavioral and communication problems. The ethical guidelines were followed in the present report. The cognitive-communicative, pragmatic and syntactic profile was drawn from the speech and neuropsychological evaluations. The speech-language assessment showed deficits in expression and comprehension. Difficulties were also found in phonological awareness, mathematical operations, reading and writing, access to the lexicon, alterations in pragmatics and occasionally, in syntactics. The neuropsychological evaluation indicated impairments in tasks that require the identification of similarities, establishment of cause-effect relationships and analogies, demonstrating a compromised reasoning for logical operations, with intellectual level incompatible with the chronological age. This interdisciplinary clinical study favors intervention approaches in rehabilitation, to maximize the potential of the individuals affected, contributing to improve their quality of life.

摘要
克兰费尔特综合征（Klinefelter syndrome）是一类因男性额外携带X染色体所引发的染色体非整倍体疾病。其诊断需结合临床观察与核型检查（karyotype examination）。该疾病的表型除其他特征外，还包含不育症、性腺功能减退症、男性乳房发育症，以及主要累及语言领域的认知改变。本文报告1例罹患克兰费尔特综合征且存在学习困难、行为与沟通障碍的青少年病例。本报告严格遵循伦理准则。研究通过言语评估与神经心理学评估（neuropsychological evaluations），构建了该患者的认知-沟通、语用及句法特征谱。言语语言评估结果显示，患者的表达与理解能力均存在缺损。此外还发现其存在语音意识障碍、数学运算困难、读写障碍、词汇通达困难，同时伴语用功能异常，偶发句法改变。神经心理学评估表明，在需要识别相似性、建立因果关系及完成类比推理的任务中，患者存在功能受损，提示其逻辑运算推理能力受损，智力水平与实足年龄不相匹配。本项跨学科临床研究可为康复干预提供优化思路，以最大化发挥患者的潜在能力，助力改善其生活质量。