Lewandowski Kathryn Eve, Shashi Vandana, Berry Peggy M, Kwapil Thomas R
Department of Psychology, University of North Carolina at Greensboro, Greensboro, North Carolina 27401, USA.
Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):27-36. doi: 10.1002/ajmg.b.30379.
22q11.2 Deletion Syndrome (22q11DS) is the most common genetic microdeletion syndrome affecting humans. The syndrome is associated with general cognitive impairments and specific deficits in visual-spatial ability, non-verbal reasoning, and planning skills. 22q11DS is also associated with behavioral and psychiatric abnormalities, including a markedly elevated risk for schizophrenia. Research findings indicate that people with schizophrenia, as well as those identified as schizoptypic, show specific cognitive deficits in the areas of sustained attention, executive functioning, and verbal working memory. The present study examined such schizophrenic-like cognitive deficits in children and adolescents with 22q11DS (n = 26) and controls (n = 25) using a cross-sectional design. As hypothesized, 22q11DS participants exhibited deficits in intelligence, achievement, sustained attention, executive functioning, and verbal working memory compared to controls. Furthermore, deficits in attention and executive functioning were more pronounced in the 22q11DS sample relative to general cognitive impairment. These findings suggest that the same pattern of neuropsychological impairment seen in patients with schizophrenia is present in non-psychotic children identified as at-risk for the development of schizophrenia based on a known genetic risk marker.
22q11.2缺失综合征(22q11DS)是影响人类的最常见的遗传性微缺失综合征。该综合征与一般认知障碍以及视觉空间能力、非言语推理和计划技能方面的特定缺陷有关。22q11DS还与行为和精神异常有关,包括精神分裂症风险显著升高。研究结果表明,精神分裂症患者以及被认定为分裂型人格的人在持续注意力、执行功能和言语工作记忆方面存在特定的认知缺陷。本研究采用横断面设计,对22q11DS患儿和青少年(n = 26)及对照组(n = 25)的此类精神分裂症样认知缺陷进行了研究。正如所假设的那样,与对照组相比,22q11DS参与者在智力、成就、持续注意力、执行功能和言语工作记忆方面存在缺陷。此外,相对于一般认知障碍,22q11DS样本中注意力和执行功能的缺陷更为明显。这些发现表明,基于已知的遗传风险标志物,在被认定有精神分裂症发病风险的非精神病性儿童中,存在与精神分裂症患者相同的神经心理损伤模式。