Levitin Daniel J, Menon Vinod, Schmitt J Eric, Eliez Stephan, White Christopher D, Glover Gary H, Kadis Jay, Korenberg Julie R, Bellugi Ursula, Reiss Allan L
Department of Psychology, McGill University, Montreal, Quebec, Canada.
Neuroimage. 2003 Jan;18(1):74-82. doi: 10.1006/nimg.2002.1297.
Williams syndrome (WS), a neurogenetic developmental disorder, is characterized by a rare fractionation of higher cortical functioning: selective preservation of certain complex faculties (language, music, face processing, and sociability) in contrast to marked and severe deficits in nearly every other cognitive domain (reasoning, spatial ability, motor coordination, arithmetic, problem solving). WS people are also known to suffer from hyperacusis and to experience heightened emotional reactions to music and certain classes of noise. We used functional magnetic resonance imaging to examine the neural basis of auditory processing of music and noise in WS patients and age-matched controls and found strikingly different patterns of neural organization between the groups. Those regions supporting music and noise processing in normal subjects were found not to be consistently activated in the WS participants (e.g., superior temporal and middle temporal gyri). Instead, the WS participants showed significantly reduced activation in the temporal lobes coupled with significantly greater activation in the right amygdala. In addition, WS participants (but not controls) showed a widely distributed network of activation in cortical and subcortical structures, including the brain stem, during music processing. Taken together with previous ERP and cytoarchitectonic studies, this first published report of WS using fMRI provides additional evidence of a different neurofunctional organization in WS people than normal people, which may help to explain their atypical reactions to sound. These results constitute an important first step in drawing out the links between genes, brain, cognition, and behavior in Williams syndrome.
威廉姆斯综合征（WS）是一种神经遗传性发育障碍，其特征是高级皮质功能出现罕见的分化：某些复杂能力（语言、音乐、面部处理和社交能力）得以选择性保留，而几乎在所有其他认知领域（推理、空间能力、运动协调、算术、问题解决）都存在明显且严重的缺陷。已知WS患者还患有听觉过敏，并且对音乐和某些类型的噪音会产生更强烈的情绪反应。我们使用功能磁共振成像来检查WS患者和年龄匹配的对照组在音乐和噪音听觉处理方面的神经基础，发现两组之间的神经组织模式存在显著差异。在正常受试者中支持音乐和噪音处理的那些区域，在WS参与者中并未持续激活（例如颞上回和颞中回）。相反，WS参与者在颞叶的激活显著减少，同时右侧杏仁核的激活显著增加。此外，在音乐处理过程中，WS参与者（而非对照组）在包括脑干在内的皮质和皮质下结构中表现出广泛分布的激活网络。结合先前的事件相关电位和细胞构筑学研究，这篇首次发表的使用功能磁共振成像对WS进行研究的报告提供了更多证据，表明WS患者的神经功能组织与正常人不同，这可能有助于解释他们对声音的非典型反应。这些结果是揭示威廉姆斯综合征中基因、大脑、认知和行为之间联系的重要第一步。
