Velo-Cardio-Facial Syndrome: A Journey from What We Did Not Know to What We Do Know

10.6143/JSLHAT.2009.12.05

Robert J. Shprintzen

心血管顏面症候群 ； 第22對染色體 ； 22q11缺損 ； 顎裂 ； 說話障礙 ； 語言障礙 ； 精神病 ； 注意力缺陷過動症 ； 自閉症 ； 鼻音過重 ； 顎咽閉鎖不足 ； Velo-cardio-facial syndrome ； Chromosome 22 ； 22q11 deletion ； Cleft palate ； Speech impairment ； Language impairment ； Psychosis ； ADHD ； Autism spectrum disorder ； Hypernasality ； Velopharyngeal insufficiency

台灣聽力語言學會雜誌

24期（2009 / 12 / 01）

79 - 98

英文

心血管顏面症候群(VCFS)目前算是人類基因異常導致之症候群類最常見的一種，其出現率僅次於唐氏症。四十年前這種特殊的疾病就已經為人所知，但是直到最近十五年才進一步認識到其基因異常模式對人類常見疾病的重要。VCFS的普遍率在醫療先進的已開發國家至少是1:2000，這表示美國至少有150,000位患者，台灣大約有12,000位患者。認識VCFS的遺傳基因有助於我們更進一步了解說話、語言和行為異常的成因，以及最佳的治療途徑。如果我們能夠清楚了解基因造成這些常見疾病的根本機制，就很有希望發展出預防的模式，應用到一般群體，佳惠眾生。

Velo-cardio-facial syndrome is now recognized as one of the most common genetically caused multiple anomaly syndromes in humans, second in frequency only to Down syndrome. Although it has been known as a specific disorder for more than 40 years, it is only in the past 15 years that its importance as a pathogenetic model for some of the most common human disorders has become appreciated. VCFS has a population prevalence of at least 1:2000 in first world nations that offer modern health care systems. This means that there are at least 150,000 affected individuals in the United States and approximately 12,000 in Taiwan. Our understanding of the genetic cause of VCFS will lead to a better understanding of how speech, language, and behavioral disorders are caused, and how they may best be treated. If we are successful in understanding the basic mechanisms of how genes can cause these common impairments, models for prevention will most likely be developed that will become applicable to the general population thereby benefiting tens or hundreds of millions of people worldwide.

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