Cherniske Elizabeth M, Carpenter Thomas O, Klaiman Cheryl, Young Eytan, Bregman Joel, Insogna Karl, Schultz Robert T, Pober Barbara R
Child Study Center, Yale School of Medicine, New Haven, Connecticut, USA.
Am J Med Genet A. 2004 Dec 15;131(3):255-64. doi: 10.1002/ajmg.a.30400.
To address the natural history of Williams syndrome (WS), we performed multisystem assessments on 20 adults with WS over 30 years of age and documented a high frequency of problems in multiple organ systems. The most striking and consistent findings were: abnormal body habitus; mild-moderate high frequency sensorineural hearing loss; cardiovascular disease and hypertension; gastrointestinal symptoms including diverticular disease; diabetes and abnormal glucose tolerance on standard oral glucose tolerance testing; subclinical hypothyroidism; decreased bone mineral density on DEXA scanning; and a high frequency of psychiatric symptoms, most notably anxiety, often requiring multimodal therapy. Review of brain MRI scans did not demonstrate consistent pathology. The adults in our cohort were not living independently and the vast majority were not competitively employed. Our preliminary findings raise concern about the occurrence of mild accelerated aging, which may additionally complicate the long-term natural history of older adults with WS. We provide monitoring guidelines to assist in the comprehensive care of adults with WS.
为了研究威廉姆斯综合征（WS）的自然病史，我们对20名30岁以上的成年WS患者进行了多系统评估，并记录了多个器官系统中出现问题的高频率情况。最显著且一致的发现包括：身体体型异常；轻至中度高频感音神经性听力损失；心血管疾病和高血压；胃肠道症状，包括憩室病；糖尿病以及标准口服葡萄糖耐量试验显示的葡萄糖耐量异常；亚临床甲状腺功能减退；双能X线吸收法扫描显示骨密度降低；以及高频率的精神症状，最明显的是焦虑，通常需要多模式治疗。脑部磁共振成像扫描复查未显示一致的病变。我们队列中的成年人无法独立生活，绝大多数人没有从事有竞争力的工作。我们的初步研究结果引发了对轻度加速衰老发生情况的担忧，这可能会使老年WS患者的长期自然病史更加复杂。我们提供监测指南，以协助对成年WS患者进行全面护理。
