Pober Barbara R, Morris Colleen A
Harvard Medical School, Boston, USA.
Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):280-90. doi: 10.1002/ajmg.c.30139.
Williams-Beuren syndrome (WBS) is a multi-system disorder that requires ongoing management by a primary care physician familiar with the natural history and common medical problems associated with the condition. Some abnormalities are unique to WBS, such as the elastin arteriopathy that often manifests as supravalvar aortic stenosis and hypertension. Still other features, such as diverticulosis, are seen in the general population but tend to present earlier in WBS. Life long monitoring of the cardiovascular and endocrine systems is essential to the clinical management of individuals with Williams-Beuren syndrome. Constipation should be aggressively managed, and symptoms of abdominal pain should prompt an evaluation for diverticulosis/diverticulitis. While the mean IQ of WBS is in the mild mental retardation range, difficulties with attention and anxiety are more likely to negatively impact independent functioning in the adult with WBS. There is no evidence for decline in cognitive ability over time, but adaptive functioning may be improved with treatment of anxiety by both behavior and medical modalities.
威廉姆斯-贝伦综合征（WBS）是一种多系统疾病，需要由熟悉该疾病自然病史和常见医学问题的初级保健医生进行持续管理。有些异常是WBS所特有的，比如弹性蛋白动脉病变，常表现为瓣上主动脉狭窄和高血压。还有一些特征，如憩室病，在普通人群中也可见，但在WBS患者中往往出现得更早。对威廉姆斯-贝伦综合征患者进行终身心血管和内分泌系统监测对其临床管理至关重要。应积极处理便秘，腹痛症状应促使对憩室病/憩室炎进行评估。虽然WBS患者的平均智商处于轻度智力障碍范围内，但注意力问题和焦虑更有可能对成年WBS患者的独立功能产生负面影响。没有证据表明认知能力会随时间下降，但通过行为和药物治疗焦虑可能会改善适应性功能。
