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克兰费尔特综合征青少年的社会、情感和行为功能

Social, Emotional, and Behavioral Functioning in Adolescents With Klinefelter Syndrome.

作者信息

Jünger Anja L, Lasecke Meagan, Foland-Ross Lara C, Jordan Tracy L, Sundstrom Jamie L, Wun Vanessa Lozano, Witkin Gregory A, Ikomi Chijioke, Ross Judith, Reiss Allan L

机构信息

Department of Psychiatry and Behavioral Sciences, Center for Interdisciplinary Brain Sciences Research, Stanford University, Stanford, CA.

Department of Psychology, University of Minnesota, Minneapolis, MN.

出版信息

J Dev Behav Pediatr. 2025;46(2):e216-e222. doi: 10.1097/DBP.0000000000001335. Epub 2025 Jan 9.

DOI:10.1097/DBP.0000000000001335
PMID:39819970
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11999792/
Abstract

OBJECTIVE

Klinefelter syndrome (KS) is a common genetic condition in males associated with an extra X chromosome (i.e., 47,XXY). Individuals with KS often experience androgen insufficiency and tall stature and are at increased risk for depression, anxiety, and social challenges. This cross-sectional study investigates social and emotional functions in 52 boys with KS and 62 typically developing (TD) boys, aged 8 to 13 years.

METHODS

Self-report measures of anxiety, depression, and behavior and parent-report measures of social functioning and behavior were completed. In primary analyses, linear regression was used to test the effect of group (KS, TD) on standardized scores derived from widely used rating scales. In secondary analyses, we explored the influence of pubertal status on these scores and concordance between self- and parent ratings.

RESULTS

Our results indicate that boys with KS exhibit significantly increased anxiety, depression, and social difficulties relative to TD peers. Among participants with KS, peripubertal boys generally experienced more difficulties in aspects of social and emotional functioning as compared to prepubertal boys. Concordance analyses revealed differences between parent- and child-reports.

CONCLUSION

These findings indicate that alterations in social, emotional, and behavioral functions are present in boys and adolescents with KS and may be influenced by puberty.

摘要

目的

克兰费尔特综合征(KS)是男性中一种常见的遗传性疾病,与额外的一条X染色体相关(即47,XXY)。KS患者常出现雄激素不足和身材高大的情况,且患抑郁症、焦虑症以及面临社交挑战的风险增加。这项横断面研究调查了52名年龄在8至13岁的KS男孩和62名发育正常(TD)男孩的社交和情感功能。

方法

完成了焦虑、抑郁和行为的自我报告测量以及社交功能和行为的家长报告测量。在主要分析中,使用线性回归来检验组别(KS、TD)对源自广泛使用的评定量表的标准化分数的影响。在次要分析中,我们探讨了青春期状态对这些分数的影响以及自我评定与家长评定之间的一致性。

结果

我们的结果表明,与TD同龄人相比,KS男孩表现出明显更高的焦虑、抑郁和社交困难。在KS参与者中,与青春期前男孩相比,青春期前后的男孩在社交和情感功能方面通常经历更多困难。一致性分析揭示了家长报告与儿童报告之间的差异。

结论

这些发现表明,KS男孩和青少年存在社交、情感和行为功能的改变,且可能受青春期影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/077c38eebaae/nihms-2031540-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/7f5b75840eb6/nihms-2031540-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/f586b3444fcf/nihms-2031540-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/6f8dee7400f1/nihms-2031540-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/077c38eebaae/nihms-2031540-f0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/7f5b75840eb6/nihms-2031540-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/f586b3444fcf/nihms-2031540-f0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/6f8dee7400f1/nihms-2031540-f0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/76ad/11999792/077c38eebaae/nihms-2031540-f0004.jpg

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本文引用的文献

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Understanding the Neuropsychological Implications of Klinefelter Syndrome in Pediatric Populations: Current Perspectives.了解克氏综合征在儿科人群中的神经心理学影响:当前观点
Pediatr Rep. 2024 May 25;16(2):420-431. doi: 10.3390/pediatric16020036.
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Adolescent brain development in girls with Turner syndrome.特纳综合征女孩的青春期大脑发育。
Hum Brain Mapp. 2023 Jul;44(10):4028-4039. doi: 10.1002/hbm.26327. Epub 2023 May 1.
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Klinefelter syndrome: going beyond the diagnosis.克莱恩费尔特综合征:超越诊断。
Arch Dis Child. 2023 Mar;108(3):166-171. doi: 10.1136/archdischild-2020-320831. Epub 2022 Aug 10.
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Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children.1-2 岁儿童 X、Y 染色体变异(XXX、XXY、XYY)对社会交往和社会情感发展的早期影响。
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Onset and progression of puberty in Klinefelter syndrome.克兰费尔特综合征中青春期的 onset 和进展。(这里“onset”结合语境准确含义还需进一步明确,比如可译为“起始”等)
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Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):216-225. doi: 10.1002/ajmg.c.31802. Epub 2020 Jun 2.
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Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome.克莱恩费尔特综合征患者的心理功能、大脑形态和功能神经影像学研究。
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Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies.性染色体非整倍体对精神障碍的性别差异:我们能从中得到什么启示。
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