Fountain Daniel M, Schaer Marie, Mutlu A Kadir, Schneider Maude, Debbané Martin, Eliez Stephan
Office Médico-Pédagogique, Université de Genève, Switzerland.
Office Médico-Pédagogique, Université de Genève, Switzerland; Stanford Cognitive & Systems Neuroscience Laboratory, Stanford University, CA, USA.
Cortex. 2014 Aug;57:128-42. doi: 10.1016/j.cortex.2014.04.004. Epub 2014 Apr 23.
There is increasing evidence that congenital heart disease (CHD) affects brain structure, but little is known about the long-term trajectory of brain maturation and its impact on the cognitive development of patients with CHD. We proposed to address this question in a longitudinally-followed cohort of individuals with 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome in humans.
A total of 80 participants were included in this longitudinal analysis. The volumes of thirty-four cortical regions and eight hippocampal regions were measured in each hemisphere with FreeSurfer software. This paper utilized linear mixed modelling to investigate cerebral morphometry and age-related maturational changes of all regions. The effect of CHD was assessed for intercept and slope significance.
We observed significant (p < .05/34) volumetric reductions in patients with CHD compared to patients without in fifteen out of the sixty-eight cortical sub-regions. Similarly, global hippocampal volumes and twelve of the hippocampal sub-regions were significantly smaller (p < .05/8). The results demonstrate significant absolute volumetric differences, but did not show any significant differences in the way the cortical or hippocampal regions developed over time. There was limited evidence of any effect of the presence of CHD on key cognitive measures.
We propose that cerebral hypoperfusion, due to the presence of CHD or its surgery, impairs early cortical and particularly hippocampal growth, potentially due to the damaging effects of stress, but not subsequent maturational processes in children and adolescents.
越来越多的证据表明先天性心脏病（CHD）会影响脑结构，但对于脑成熟的长期轨迹及其对CHD患者认知发育的影响却知之甚少。我们提议在一个对22q11.2缺失综合征（22q11DS，人类最常见的微缺失综合征）患者进行纵向随访的队列中解决这个问题。
本纵向分析共纳入80名参与者。使用FreeSurfer软件测量每个半球34个皮质区域和8个海马区域的体积。本文利用线性混合模型研究所有区域的脑形态计量学和与年龄相关的成熟变化。评估CHD对截距和斜率显著性的影响。
与无CHD的患者相比，我们观察到在68个皮质亚区域中的15个区域，CHD患者的体积有显著（p <.05/34）减小。同样，整体海马体积和12个海马亚区域显著更小（p <.05/8）。结果显示了显著的绝对体积差异，但未显示皮质或海马区域随时间发育方式的任何显著差异。几乎没有证据表明CHD的存在对关键认知指标有任何影响。
我们提出，由于CHD的存在或其手术导致的脑灌注不足会损害早期皮质尤其是海马的生长，这可能是由于应激的破坏作用，但对儿童和青少年随后的成熟过程没有影响。
