Klinefelter syndrome (KS; 47,XXY) impacts neurodevelopment and is associated with an increased risk of cognitive, psychological and social impairments, although significant heterogeneity in the neurodevelopmental profile is seen. KS is characterized by a specific cognitive profile with predominantly verbal deficits, preserved function in non‐verbal and visuo‐spatial domains, executive dysfunction and social impairments, and by an increased vulnerability toward psychiatric disorders. The neurobiological underpinnings of the observed neuropsychological profile have not been established. A distinct pattern of both global and regional brain volumetric differences has been demonstrated in addition to preliminary findings of functional brain alterations related to auditory, motor, language and social processing. When present, the combination of cognitive, psychological and social challenges has the potential to negatively affect quality of life. This review intends to provide information and insight to the neuropsychological outcome and brain correlates of KS. Possible clinical intervention and future directions of research will be discussed.

中文翻译：

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Klinefelter综合征的心理功能，脑形态和功能性神经影像学。

Klinefelter综合征（KS; 47，XXY）影响神经发育，并且与认知，心理和社会障碍的风险增加相关，尽管在神经发育方面存在明显的异质性。KS的特点是具有特定的认知特征，主要表现为言语缺陷，在非言语和视觉空间领域的功能得以保留，执行功能障碍和社会障碍，以及对精神疾病的脆弱性增加。尚未建立观察到的神经心理学资料的神经生物学基础。除了与听觉，运动，语言和社会加工有关的功能性大脑改变的初步发现之外，还证明了全球和区域性大脑容量差异的独特模式。如果有的话 认知，心理和社会挑战的结合可能会对生活质量产生负面影响。这篇综述旨在为KS的神经心理学结果和大脑相关性提供信息和见解。将讨论可能的临床干预和未来的研究方向。