Zarchi Omer, Attias Josep, Gothelf Doron
Behavioral Neurogenetics Center, Feinberg Department of Child Psychiatry, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Isr J Psychiatry Relat Sci. 2010;47(2):125-31.
Williams syndrome is a neurodevelopmental disorder caused by a deletion on chromosome 7. It is characterized by a range of medical problems in addition to severe impairments in visuospatial processing and oversensitivity to sounds, including hypersensitivity to sounds (hyperacusis) and extreme fear from sounds (phonophobia). In spite of impairments in visuospatial processing, object and face processing abilities are relatively preserved in WS.The present review discusses the growing research in the field linking the unique sensory phenotype in WS with underlying structural and functional brain abnormalities. In addition, possible associations between the genetic defect and the abnormal sensory processing are presented. Because Williams syndrome is etiologically homogeneous, it may serve as a model to promote understanding of visuospatial and auditory processing in humans. The findings may also have important implications for other developmental psychopathologies, such as autism, schizophrenia and attention deficit hyperactivity disorder.
威廉姆斯综合征是一种由7号染色体缺失引起的神经发育障碍。除了视觉空间处理严重受损和对声音过度敏感外，它还具有一系列医学问题，包括对声音过敏（听觉过敏）和对声音极度恐惧（恐音症）。尽管在视觉空间处理方面存在障碍，但威廉姆斯综合征患者的物体和面部处理能力相对保留。本综述讨论了该领域越来越多的研究，这些研究将威廉姆斯综合征独特的感觉表型与潜在的大脑结构和功能异常联系起来。此外，还介绍了基因缺陷与异常感觉处理之间可能的关联。由于威廉姆斯综合征在病因上是同质的，它可以作为一个模型来促进对人类视觉空间和听觉处理的理解。这些发现也可能对其他发育性精神病理学，如自闭症、精神分裂症和注意力缺陷多动障碍具有重要意义。
