神經科學家們正在使用一種新型磁性共振成像方法（MRI），試圖繪制第一種詳細圖像，用于揭示Williams綜合征如何影響大腦皮層。

這項研究是由來自美國加州洛城加利福尼亞大學(UCLA; USA)的研究人員主持的，研究顯示在大腦掌管語言的至關重要的區域，皮層變厚而且變得十分復雜。

獨立分布的致密的大腦掌管語言區域的皮層，對語言處理至關重要。在活體繪制出這些異常病變的能力，證明了基因如何控制人大腦皮層發育的，并且有助于臨床診斷，更好的了解Williams綜合征潛在的遺傳觸發機制。

Williams綜合征是一種遺傳性疾病，表現為心臟損害、輕～中度智力缺陷以及其他大腦皮層的病變。Williams綜合征的典型患者表現為語言技巧、音樂能力以及社會驅動力方面天賦極高，每2萬人中有1人發病。

美國加利福尼亞大學的科學家，根據42名遺傳診斷確診為Williams綜合征患者及40名年齡相匹配的正常對照的164個大腦半球MRI掃描的資料，繪制出了大腦皮層的三維圖譜。一種皮質層模式匹配得方法，使用了70sulcal標記物在每個大腦進行跟蹤，錨著在不同受試者的系列皮質層增厚圖譜上，創建組平均圖譜，鑒別出皮質層厚度發生改變的區域。研究人員將他們的研究結果發表在2005年4月20日的《神經科學期刊》之上。
 
MRI, Mapping Reveals Williams Syndrome Language Skills
 
Neuroscientists are using a novel magnetic resonance imaging (MRI) method to devise the first detailed images demonstrating how Williams syndrome affects the cerebral cortex.

The study, conducted by researchers from the University of California, Los Angeles (UCLA; USA), showed very defined cortical thickening and complexity in the region of the brain vital for language.

The isolated, condense cortical area in language regions of the brain is crucial to language processes. The ability to map these abnormalities in living individuals demonstrated how genes control development of the human cortex, and also helps in clinical diagnosis and learning more about the syndrome’s underlying genetic trigger.

Williams syndrome is a genetic disorder typified by heart defects, mild to moderate mental retardation, and abnormalities in the outer layer in the cerebral cortex. Individuals with this syndrome typically show high proficiency in language skills, musical ability, and social drive. The syndrome affects 1 in 20,000 individuals.

The UCLA scientists devised detailed three-dimensional (3D) maps of cortical thickness, based on MRI scans of 164 brain hemispheres of 42 individuals with genetically confirmed Williams syndrome and 40 age-matched healthy controls. A cortical pattern-matching method used 72 sulcal landmarks traced on each brain as anchors to align cortical thickness maps across subjects, construct group average maps, and identify areas with changed cortical thickness. The researchers published their findings in the April 20, 2005, issue of the Journal of Neuroscience.