Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Genes Brain Behav. 2019 Apr;18(4):e12553. doi: 10.1111/gbb.12553. Epub 2019 Feb 21.
KBG syndrome is a neurodevelopmental disorder, caused by dominant mutations in ANKRD11, that is characterized by developmental delay/intellectual disability, mild craniofacial dysmorphisms, and short stature. Behavior and cognition have hardly been studied, but anecdotal evidence suggests higher frequencies of ADHD-symptoms and social-emotional impairments. In this study, the behavioral and cognitive profile of KBG syndrome will be investigated in order to examine if and how cognitive deficits contribute to behavioral difficulties. A total of 18 patients with KBG syndrome and a control group consisting of 17 patients with other genetic disorders with comparable intelligence levels, completed neuropsychological assessment. Age-appropriate tasks were selected, covering overall intelligence, attention, memory, executive functioning, social cognition and visuoconstruction. Results were compared using Cohen's d effect sizes. As to behavior, fewer difficulties in social functioning and slightly more attentional problems, hyperactivity, oppositional defiant behavior and conduct problems were found in the KBG syndrome group. Regarding cognitive functioning, inspection of the observed differences shows that patients with KBG syndrome showed lower scores on sustained attention, cognitive flexibility, and visuoconstruction. In contrast, the KBG syndrome group demonstrated higher scores on visual memory, social cognition and emotion recognition. The cognitive profile of KBG syndrome in this sample indicates problems in attention and executive functioning that may underlie the behavior profile which primarily comprises impulsive behavior. Contrary to expectations based on previous (case) reports, no deficits were found in social cognitive functioning. These findings are important for counseling purposes, for tailored education planning, and for the development of personalized intervention.
KBG 综合征是一种神经发育障碍，由 ANKRD11 中的显性突变引起，其特征为发育迟缓/智力残疾、轻度颅面畸形和身材矮小。行为和认知几乎没有被研究过，但轶事证据表明 ADHD 症状和社交情感障碍的频率更高。在这项研究中，将调查 KBG 综合征的行为和认知特征，以检查认知缺陷是否以及如何导致行为困难。共有 18 名 KBG 综合征患者和 17 名具有可比智力水平的其他遗传障碍患者的对照组完成了神经心理学评估。选择了适合年龄的任务，涵盖整体智力、注意力、记忆、执行功能、社交认知和视觉构建。使用 Cohen's d 效应大小比较结果。至于行为，在 KBG 综合征组中发现社交功能障碍较少，注意力问题、多动、对立违抗性行为和品行问题略多。关于认知功能，观察到的差异表明，KBG 综合征患者在持续注意力、认知灵活性和视觉构建方面的得分较低。相比之下，KBG 综合征组在视觉记忆、社交认知和情绪识别方面的得分较高。该样本中 KBG 综合征的认知特征表明存在注意力和执行功能问题，这些问题可能是主要表现为冲动行为的行为特征的基础。与基于先前（病例）报告的预期相反，在社交认知功能方面未发现缺陷。这些发现对于咨询目的、量身定制的教育计划以及个性化干预的发展很重要。
