OBJECTIVES Wiedemann-Steiner syndrome (WSS) is a neurogenetic disorder caused by heterozygous variants in KMT2A. Recent investigations suggest increased anxiety and behavior regulation challenges among those with WSS although the neurobehavioral phenotype remains largely unknown. This study aims to examine the pattern of and associations between executive functioning (EF) and behavior functioning among those with WSS. METHOD This study involved utilizing caregiver-report inventories (Behavior Rating Inventory of Executive Function 2nd Edition, BRIEF-2; Adaptive Behavior Assessment 3rd Edition, ABAS-3; Strengths and Difficulties Questionnaire, SDQ) to assess day-to-day behavior functioning among those with WSS (N = 24; mean age = 10.68 years, SD = 3.19). Frequency of clinical elevations in daily difficulties in EF, adaptive behaviors, and behavior regulation were reported. Correlations and hierarchical linear regressions were used to determine the relationships between EF with behavior and adaptive functioning. RESULTS Out of our sample, 63% met clinical levels of executive functioning difficulties on the BRIEF-2, and 75% with Hyperactivity and 54% with Emotional Problems on the SDQ. In addition, 33% were rated >2 SD below the normative mean in overall adaptive functioning on the ABAS-3. Elevated ratings in BRIEF-2 Shift, reflective of challenges with mental flexibility, predicted more Emotional Problems and accounted for 33.5% of its variance. More difficulties in Emotional Control were related to greater adaptive deficits, accounting for 33.3% of its variance. CONCLUSIONS Those with WSS are at risk for EF deficits, hyperactivity, and emotional dysregulation. EF correlates with adaptive and affective behaviors, highlighting the promise of behavioral interventions to target cognitive flexibility, emotional awareness, and reactivity in this population.

中文翻译：

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维德曼-斯坦纳综合征执行功能、行为功能和适应性功能困难之间的关联。

目的 Wiedemann-Steiner 综合征 (WSS) 是一种由 KMT2A 杂合变异引起的神经遗传性疾病。最近的研究表明，尽管神经行为表型仍然很大程度上未知，但 WSS 患者的焦虑和行为调节挑战有所增加。本研究旨在探讨 WSS 患者执行功能 (EF) 和行为功能的模式及其之间的关联。方法 本研究涉及利用看护者报告清单（执行功能行为评级清单第二版，BRIEF-2；适应性行为评估第三版，ABAS-3；优势和困难问卷，SDQ）来评估护理人员的日常行为功能患有 WSS 的患者（N = 24；平均年龄 = 10.68 岁，SD = 3.19）。报告了 EF、适应性行为和行为调节方面日常困难的临床升高频率。使用相关性和层次线性回归来确定 EF 与行为和适应性功能之间的关系。结果 在我们的样本中，63% 的人在 Brief-2 中达到执行功能困难的临床水平，在 SDQ 中 75% 的人患有多动症，54% 的人患有情绪问题。此外，33% 的人在 ABAS-3 上的整体适应性功能被评为比正常平均值低 2 个标准差以上。Brief-2 Shift 中评分的提高反映了心理灵活性方面的挑战，预测了更多的情绪问题，并占其方差的 33.5%。情绪控制方面的更多困难与更大的适应性缺陷有关，占其方差的 33.3%。结论 患有 WSS 的人存在 EF 缺陷、多动症和情绪失调的风险。EF 与适应性和情感行为相关，强调了针对该人群的认知灵活性、情绪意识和反应性的行为干预的前景。