The Intellectual Disabilities Evaluation and Advice System ( IDEAS): Outcome of the First 55 Cases
The Intellectual Disabilities Evaluation and Advice System ( IDEAS): Outcome of the First 55 Cases
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DOI：
10.1002/ajmg.a.36456
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发表时间：
2014-05-01
影响因子：
2
通讯作者：
Friez, Michael J.
中科院分区：
文献类型：
--
作者：
Hunter, Alasdair G. W.;Graham, John M., Jr.;Friez, Michael J.
IDEAS(智障评估和咨询系统)为向格林伍德遗传中心(GGC)92基因X连锁智障(XLID)(前身为X连锁智障)小组发送样本的医生提供机会，让一个由六名经验丰富的临床遗传学家组成的小组审查其男性患者的临床特征。他们被要求获得父母的同意，填写一页的信息表，并提供A-P和横向照片。小组成员独立审查了这些材料，并就患者的临床特征、可能的诊断和/或进一步的测试提出了评论。我们介绍了最初55名患者的评估结果。只有一个案例中，所有小组成员都同意非XLID诊断，后来通过基因测试证明了这一点。XLID基因小组诊断出另外5例(9%)病例，但只有两例中有一名专家提出了正确的基因，这是他们建议的四种基因之一。本文探讨了临床诊断率低的可能原因，并认为，虽然所获得的数据往往不完整，但缺乏诊断的最重要原因是转诊来源和选择复查患者。我们确实注意到，在一些情况下，我们不同意提交的信息，即个人是否变形，以及所声称的某些体征的存在，最常见的是下垂的眼睑和后耳角度。临床体征评估方面的这些差异，以及标准数据表中提供的一般缺乏完整性和细节，包括关于大家族病史的数据，导致我们对建立高质量中央临床数据库的可行性表示担忧，该数据库旨在帮助解释外源/基因组变异。(C)2014年威利期刊公司。
IDEAS (intellectual disabilities evaluation and advice system) provides the opportunity for physicians who are sending samples for the Greenwood Genetic Center (GGC) 92-gene X-linked intellectual disability (XLID) (formerly X-linked mental retardation) panel to have their male patient's clinical features reviewed by an experienced panel of six Clinical Geneticists. They were asked to obtain parental consent, complete a one-page information form, and provide A-P and lateral photographs. The panel members independently reviewed the material and forwarded comments about clinical features, possible diagnoses, and/or further testing for the patient. We present the results of the first 55 patients evaluated. In only a single case did all panelists agree on a non-XLID diagnosis, later proven by genetic testing. The XLID gene panel diagnosed an additional five (9%) cases, but in only two cases did one panelist suggest the correct gene, which was one of four they suggested. This paper examines the possible reasons for the low rate of clinical diagnosis and suggests that, while the data received were often incomplete, the most important reasons for lack of diagnoses were the source of referral and selection of patients for review. We did note that there were a number of instances where we disagreed with the submitted information as to whether the individual was dysmorphic and with the stated presence of certain physical signs, most often downslanted palpebrae and posterior ear angulation. These differences in assessment of clinical signs and the general lack of completeness and detail provided in the standard data sheet, including that regarding the extended family history, lead us to raise concerns regarding the feasibility of establishing high quality central clinical databases designed to aid in the interpretation of exomic/genomic variants. (c) 2014 Wiley Periodicals, Inc.