Kates Wendy R, Burnette Courtney P, Bessette Brandy A, Folley Bradley S, Strunge Leslie, Jabs Ethylin W, Pearlson Godfrey D
Department of Psychiatry and Behavioral Sciences, State University of New York Upstate Medical University, Syracuse, NY 13210, USA.
J Child Neurol. 2004 May;19(5):337-42. doi: 10.1177/088307380401900506.
This study investigated the morphology of the frontal lobe and the caudate nucleus in velocardiofacial syndrome, a neurogenetic disorder caused by a microdeletion at chromosome 22q11.2 and frequently associated with severe psychiatric disturbances. Volumes of the caudate nucleus and subregions of the frontal lobe were compared on magnetic resonance images of 10 children with velocardiofacial syndrome and 10 age- and gender-matched controls. Frontal deep white matter was reduced significantly (by about 23%) in subjects with velocardiofacial syndrome relative to controls. Frontal and prefrontal volumes were also reduced in subjects with velocardiofacial syndrome, although not disproportionately to whole brain volume. The volume of the right caudate nucleus was increased in children with velocardiofacial syndrome. Associations between right caudate and right frontal regions were noted in controls but not in children with velocardiofacial syndrome. These findings suggest frontostriatal dysfunction in children with velocardiofacial syndrome. Insofar as up to 30% of adults with velocardiofacial syndrome (also known as chromosome 22q11 deletion syndrome) develop schizophrenia and frontostriatal dysfunction has been noted in schizophrenia, the findings support the hypothesis that velocardiofacial syndrome might represent a neurodevelopmental model of schizophrenia.
本研究调查了心脏颜面综合征患者额叶和尾状核的形态，心脏颜面综合征是一种由22q11.2染色体微缺失引起的神经遗传性疾病，常伴有严重的精神障碍。在10名患有心脏颜面综合征的儿童和10名年龄及性别匹配的对照者的磁共振图像上，比较了尾状核体积和额叶亚区域。与对照组相比，心脏颜面综合征患者的额叶深部白质显著减少（约23%）。心脏颜面综合征患者的额叶和前额叶体积也减少了，尽管与全脑体积相比减少幅度不大。心脏颜面综合征患儿右侧尾状核体积增大。在对照组中发现右侧尾状核与右侧额叶区域之间存在关联，但在心脏颜面综合征患儿中未发现这种关联。这些发现提示心脏颜面综合征患儿存在额纹状体功能障碍。鉴于高达30%的心脏颜面综合征成人患者（也称为22q11缺失综合征）会发展为精神分裂症，且精神分裂症患者中也存在额纹状体功能障碍，这些发现支持了心脏颜面综合征可能代表精神分裂症神经发育模型的假说。
