van Dongen Linde C M, Wingbermühle Ellen, Oomens Wouter, Bos-Roubos Anja G, Ockeloen Charlotte W, Kleefstra Tjitske, Egger Jos I M
Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, Netherlands.
Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, Netherlands.
Front Behav Neurosci. 2017 Dec 19;11:248. doi: 10.3389/fnbeh.2017.00248. eCollection 2017.
KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome ( = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects ( = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome.
KBG综合征是一种由该基因功能丧失引起的神经发育障碍（NDD）。其核心表型包括发育迟缓（DD）/智力残疾（ID）以及几种特定的面部畸形。此外，还提到了与注意力缺陷多动障碍（ADHD）和自闭症谱系障碍（ASD）相关的症状。然而，为了正确理解这些发育和行为特征，采用客观测量方法非常重要，而在KBG综合征患者中很少有人这样做。在本研究中，通过韦氏智力量表，将18例KBG综合征患者的智力概况与一个由其他各种遗传缺陷导致的神经发育障碍患者组成的对照组（17例）进行了比较。这些量表还用于测量信息处理速度、工作记忆、语言理解和知觉推理。与患者遗传对照组相比，KBG综合征患者的整体智力水平未发现显著差异。韦氏分测验结果也是如此。因此，与KBG综合征相关的行为问题不能直接与特定的智力概况相关或由其解释。相反，应该进行神经认知功能的特定评估，以阐明在该综合征中观察到的假定行为问题。
