歌舞伎综合征的社会行为表型

文献信息

中文摘要

目的： 本研究描述了与歌舞伎综合征（KS）相关的社交沟通和行为特征，包括对携带KMT2D致病性变异（KS1）与KDM6A致病性变异（KS2）个体之间的探索性比较。
方法： 35名KS儿童/成人的照护者（25名女性，平均年龄=13.45岁，标准差=7.60）完成了社交反应量表第二版（SRS-2）、科罗拉多学习困难问卷和/或长处与困难问卷。进行了描述性分析和非参数检验，以检查整个队列中的行为趋势，并探索KS1与KS2个体在社交行为和孤独症特征方面的差异。
结果： 约三分之一的样本先前被诊断为孤独症谱系障碍，KS2的比率高于KS1（67%对23%）。在整个队列中，72%的个体在同伴问题方面处于边缘/临床范围，而只有3%的个体在亲社会行为方面得分异常。KS1个体在受限/重复行为（RRBs）方面被评定为最具挑战性，处于中度严重范围，而其他社交领域（社交沟通、社交意识、社交动机）则相对较好。相比之下，社交动机是唯一被评定在正常范围内的领域。
结论： KS2个体在所有社交行为/认知领域均表现出比KS1个体更大的困难，尽管两者在RRB和亲社会行为方面严重程度相似。KS社会行为表型的突出特征包括在刻板行为和受限兴趣方面存在明显困难，同时伴有强烈的亲社会倾向。KS2可能增加孤独症相关特征的风险，强调需要进行更系统的研究。

英文摘要

OBJECTIVE: This study describes the social-communication and behavioral profile associated with Kabuki syndrome (KS), including exploratory comparisons between individuals with a pathogenic variant in KMT2D (KS1) versus KDM6A (KS2).
METHOD: Thirty-five caregivers of children/adults with KS (25F, Mage = 13.45, SD = 7.60) completed the Social Responsiveness Scale 2nd Edition (SRS-2), Colorado Learning Difficulties Questionnaire, and/or Strengths and Difficulties Questionnaire. Descriptive analyses and non-parametric tests were conducted to examine behavioral trends in the entire cohort and to explore differences in social behaviors and autism characteristics between those with KS1 versus KS2.
RESULTS: About a third of the sample have a prior diagnosis of autism spectrum disorder, with rates more elevated in KS2 versus KS1 (67% vs. 23%). In the full cohort, 72% fell in borderline/clinical ranges for Peer Problems, while only 3% yielded atypical scores for Prosocial Behaviors. Those with KS1 were rated to show most challenges in restricted/repetitive behaviors (RRBs), which fell in the moderately severe range, compared to other social domains (social communication, social awareness, social motivation). In contrast, social motivation was the sole area rated within normal limits.
CONCLUSION: Those with KS2 showed greater difficulties across all social behavior/cognitive domains than KS1 counterparts, albeit both presented with similar severity in RRB and prosocial behaviors. Prominent features of the KS social behavioral phenotype include pronounced difficulties with inflexible behaviors and restricted interests juxtaposed with strong prosocial tendencies. KS2 may confer increased risk for autism-related characteristics, underscoring the need for more systematic investigations.