Kennedy Krieger Institute, Baltimore, MD, USA.
Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
J Int Neuropsychol Soc. 2023 Jun;29(5):512-518. doi: 10.1017/S1355617722000467. Epub 2022 Sep 5.
Wiedemann-Steiner syndrome (WSS) is a rare Mendelian disorder of the epigenetic machinery caused by heterozygous pathogenic variants in . Currently, the specific neurocognitive profile of this syndrome remains unknown. This case series provides insight into the cognitive phenotype of WSS.
This study involves a retrospective medical chart review of 10 pediatric patients, each with a molecularly confirmed diagnosis of WSS who underwent clinical neuropsychological evaluation at an academic medical center.
The majority of patients performed in the below average to very low ranges in Nonverbal Reasoning, Visual/Spatial Perception, Visuoconstruction, Visual Memory, Attention, Working Memory and Math Computation skills. In contrast, over half the sample performed within normal limits on Receptive Vocabulary, Verbal Memory, and Word Reading. Wilcoxon signed rank test showed weaker Nonverbal versus Verbal Reasoning skills ( = .005). Most caregivers reported deficits in executive functioning, most notably in emotion regulation.
Nonverbal reasoning/memory, visuospatial/construction, attention, working memory, executive functioning, and math computation skills are areas of weakness among those with WSS. These findings overlap with research on Kabuki syndrome, which is caused by variants in and suggest disruption in the neurogenesis of the hippocampal formation may drive shared pathogenesis of the two syndromes.
Wiedemann-Steiner 综合征（WSS）是一种罕见的表观遗传机制的孟德尔疾病，由.中的杂合致病性变异引起。目前，该综合征的特定神经认知特征尚不清楚。本病例系列提供了对 WSS 认知表型的深入了解。
本研究涉及对 10 名儿科患者的回顾性病历审查，每个患者均通过分子学确认诊断为 WSS，并在学术医疗中心接受临床神经心理评估。
大多数患者在非言语推理、视觉/空间感知、视觉构建、视觉记忆、注意力、工作记忆和数学计算技能方面表现为中下等至极低等。相比之下，超过一半的样本在接受性词汇、言语记忆和单词阅读方面表现正常。Wilcoxon 符号秩检验显示非言语推理与言语推理技能之间存在差异（.005）。大多数照顾者报告存在执行功能缺陷，尤其是在情绪调节方面。
WSS 患者的非言语推理/记忆、视空间/构建、注意力、工作记忆、执行功能和数学计算技能是薄弱环节。这些发现与 Kabuki 综合征的研究结果重叠，后者由.中的变异引起，这表明海马结构的神经发生中断可能导致两种综合征的共同发病机制。
