Eliez Stephan, Barnea-Goraly Naama, Schmitt J Eric, Liu Yung, Reiss Allan L
Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, USA.
Biol Psychiatry. 2002 Jul 1;52(1):68-70. doi: 10.1016/s0006-3223(02)01361-6.
This study evaluated differences in caudate volumes in subjects with velo-cardio-facial syndrome due to a 22q11.2 (22qDS) deletion. Because psychosis is observed in 30% of adult subjects with 22qDS, this neurogenetic disorder could represent a putative model for a genetically mediated subtype of schizophrenia.
Caudate volumes were measured on high-resolution magnetic resonance images in 30 children and adolescents with 22qDS and 30 gender- and age-matched normal comparison subjects.
Caudate head volumes were increased in the 22qDS group independent of neuroleptic medications. Subjects with 22qDS also displayed an abnormal pattern of asymmetry in the anterior caudate, with left side greater than right.
Alterations in the basal ganglia circuitry have been implicated in learning, cognitive, and behavioral problems in children and therefore could be involved in the expression of the neurobehavioral phenotype expressed by subjects with 22qDS. Abnormal caudate volume is a neurodevelopmental feature shared with schizophrenia, further establishing 22qDS as a potential neurodevelopmental model for this disorder.
本研究评估了因22q11.2（22qDS）缺失导致的腭心面综合征患者尾状核体积的差异。由于在30%的成年22qDS患者中观察到精神病症状，这种神经遗传性疾病可能代表了一种由基因介导的精神分裂症亚型的假定模型。
对30名患有22qDS的儿童和青少年以及30名年龄和性别匹配的正常对照受试者进行高分辨率磁共振成像测量尾状核体积。
22qDS组的尾状核头部体积增加，与抗精神病药物无关。22qDS患者的前尾状核还表现出异常的不对称模式，左侧大于右侧。
基底神经节回路的改变与儿童的学习、认知和行为问题有关，因此可能参与了22qDS患者神经行为表型的表达。异常的尾状核体积是精神分裂症共有的神经发育特征，进一步确立了22qDS作为该疾病潜在的神经发育模型。
