Trauner D A, Bellugi U, Chase C
Department of Neurosciences, University of California School of Medicine, La Jolla.
Pediatr Neurol. 1989 May-Jun;5(3):166-8. doi: 10.1016/0887-8994(89)90066-0.
Eight patients with Williams syndrome and 6 with Down syndrome, matched for age and full-scale IQ, underwent detailed neurologic testing as part of a large multidisciplinary research center study. Williams syndrome patients were small for gestational age and often had histories of failure-to-thrive and feeding problems as infants. Half of the Williams syndrome patients had epilepsy. On neurologic testing, Williams syndrome patients had greater difficulty with gross and fine motor coordination, oromotor skills, and cerebellar function than did those with Down syndrome. The neurologic distinctions between these 2 groups may reflect an underlying, as yet undefined, metabolic defect in Williams syndrome.
作为一个大型多学科研究中心研究的一部分，8名患有威廉姆斯综合征的患者和6名患有唐氏综合征的患者（年龄和全量表智商相匹配）接受了详细的神经学测试。威廉姆斯综合征患者出生时孕周小，婴儿期常有生长发育迟缓及喂养问题史。一半的威廉姆斯综合征患者患有癫痫。在神经学测试中，与唐氏综合征患者相比，威廉姆斯综合征患者在粗大和精细运动协调、口面部运动技能及小脑功能方面存在更大困难。这两组之间的神经学差异可能反映了威廉姆斯综合征潜在的、尚未明确的代谢缺陷。
