49,XXXXY was previously associated with profound to severe intellectual deficits. However, prior research papers on the cognitive profiles of this population were confounded by small samples sizes, wide age spreads, and incomplete histories of testosterone replacement therapy. This study is the first comprehensive, international investigation of the neurocognitive aspects of 49,XXXXY, and the potential effects of biological treatment on this profile. Sixty-seven boys from infancy to 11 years of age were enrolled in this longitudinal study, with the majority of boys postnatally diagnosed though chromosomal analysis. These boys received a comprehensive neurocognitive evaluation tailored to specific language-based deficits and cognitive challenges. Results revealed higher neurocognitive capacities, both verbally and nonverbally, than previously reported in this disorder. Infant boys with 49,XXXXY who received early hormonal therapy (EHT) had significantly higher scores on the cognitive domain of the Bayley Scales of Infant Development than untreated infants (p = .013). In addition, treated school-aged participants had significantly better scaled scores than untreated boys in form completion (p = .042), a task that requires deductive reasoning, on nonverbal testing on the Leiter International Performance Scales. This study indicates greater cognitive capacities with a wide range of abilities in the child with 49,XXXXY, thus warranting further investigation to identify and understand the critical influences on the etiology and the variability of those capacities.

中文翻译：

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49,XXXXY 综合征男孩的神经认知发育和能力

49,XXXXY 以前与严重到严重的智力缺陷有关。然而，先前关于这一人群认知特征的研究论文因样本量小、年龄跨度大和睾酮替代疗法的不完整历史而感到困惑。这项研究是对 49,XXXXY 的神经认知方面以及生物治疗对此概况的潜在影响的第一次全面的国际调查。从婴儿期到 11 岁的 67 名男孩参加了这项纵向研究，大多数男孩在出生后通过染色体分析诊断出来。这些男孩接受了针对特定语言缺陷和认知挑战量身定制的全面神经认知评估。结果显示更高的神经认知能力，无论是口头还是非口头，比以前报道的这种疾病。接受早期激素治疗 (EHT) 的 49,XXXXY 男婴在贝利婴儿发育量表的认知领域得分显着高于未接受治疗的婴儿。p  = .013)。此外，在 Leiter International Performance Scales 的非语言测试中，接受治疗的学龄参与者在表格完成（一项需要演绎推理的任务）方面比未接受治疗的男孩具有明显更好的量表 分数。这项研究表明 49,XXXXY 的儿童具有更大的认知能力和广泛的能力，因此需要进一步调查以识别和了解对病因和这些能力的可变性的关键影响。