KTO-Special Welfare District of Varsinais-Suomi, Paimio, Finland.
Public Health, Turku University Hospital, Clinical Research Centre and University of Turku, Turku University, Turku, Finland.
Mol Genet Genomic Med. 2019 Jun;7(6):e695. doi: 10.1002/mgg3.695. Epub 2019 Apr 29.
Williams syndrome (WBS) is a genetic multisystem disorder. The main symptom is borderline (intelligence quotient, IQ 70-79) or abnormally low intelligence (IQ < 70). According to earlier studies young individuals with WBS demonstrate generally a slightly higher verbal IQ (VIQ) compared to performance/nonverbal IQ (PIQ). WBS was recognized as a distinct entity already about 60 years ago, but still cognition in adults with WBS is poorly known.
We followed 25 adults (age at baseline 19-68, median 38) with genetically confirmed WBS for about 20 years. The study subjects underwent medical and neuropsychological assessments at the baseline and at the end of follow-up.
The mean VIQ remained quite stable from early adulthood up to 40 years of age after which it declined. The mean PIQ kept on improving from early adulthood until 50 years of age after which it gradually declined. At the end of the study, all study subjects had at least two longstanding health problems out of which hypertension, psychiatric disorder, and scoliosis or kyphosis occurred most frequently. At end of the study, two patients suffered from vascular dementia. Seven patients died during the follow-up.
In adults with WBS, the course of cognition is uneven across the cognitive profile. Their verbal functions both develop and deteriorate earlier than performance/nonverbal functions. Frequent somatic co-morbidities may increase risk to shortened life span.
威廉姆斯综合征（WBS）是一种遗传性多系统疾病。主要症状是边缘智力（智商 70-79）或明显智力低下（智商<70）。根据早期研究，WBS 患者的言语智商（VIQ）普遍略高于操作/非言语智商（PIQ）。WBS 大约在 60 年前就被认为是一种独特的疾病实体，但成年人的认知功能仍知之甚少。
我们对 25 名（基线年龄 19-68 岁，中位数 38 岁）经基因证实的 WBS 成年人进行了大约 20 年的随访。研究对象在基线和随访结束时接受了医学和神经心理学评估。
平均 VIQ 从成年早期到 40 岁左右相对稳定，之后开始下降。平均 PIQ 从成年早期持续改善，直到 50 岁左右，之后逐渐下降。在研究结束时，所有研究对象都至少有两种长期健康问题，其中高血压、精神障碍、脊柱侧凸或后凸最为常见。研究结束时，有两名患者患有血管性痴呆。在随访期间有 7 名患者死亡。
在 WBS 成年患者中，认知过程在认知特征上是不均匀的。他们的言语功能先发展后恶化，而操作/非言语功能则持续改善。频繁的躯体合并症可能会增加缩短寿命的风险。
