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The FASD Eye Code: a complementary diagnostic tool in fetal alcohol spectrum disorders
BMJ Open Ophthalmology ( IF 2.0 ) Pub Date : 2021-10-01 , DOI: 10.1136/bmjophth-2021-000852
Eva Aring 1, 2 , Emelie Gyllencreutz 3 , Valdemar Landgren 4, 5 , Leif Svensson 4 , Magnus Landgren 4, 5 , Marita Andersson Grönlund 3, 6
Affiliation  

Objective To create an easy-to-use complementary ophthalmological tool to support a fetal alcohol spectrum disorder (FASD) diagnosis. Methods and Analysis The FASD Eye Code was derived from 37 children with FASD evaluated along with 65 healthy age-matched and sex-matched controls. Four ophthalmological categories, which are abnormalities commonly found in children with FASD, were ranked independently on a 4-point scale, with 1 reflecting normal finding and 4 a strong presence of an abnormality: visual acuity, refraction, strabismus/binocular function and ocular structural abnormalities. The tool was validated on 33 children with attention deficit/hyperactivity disorder (ADHD), 57 children born moderate-to-late premature (MLP) and 16 children with Silver-Russell syndrome (SRS). Among children with ADHD none was born prematurely or small for gestational age (SGA) or diagnosed with FASD. Among children born MLP none was SGA, had a diagnosis of ADHD or FASD, or a history of retinopathy of prematurity. Children with SRS were all born SGA, half were born preterm and none had FASD. Children with FASD were re-examined as young adults. Results An FASD Eye Code cut-off total score of ≥10 showed an area under the curve (AUC) of 0.78 (95% CI 0.69 to 0.87), with 94% specificity and 43% sensitivity, in discriminating between FASD and controls, MLP and ADHD, corresponding to a positive likelihood ratio (LR+) of 7.5. Between FASD and controls, an AUC of 0.87 (CI 0.80 to 0.95), with 100% specificity and 43% sensitivity, was found; between FASD and SRS, an AUC of 0.60 (CI 0.45 to 0.75) was found, with 88% specificity and 43% sensitivity. A cut-off score of≥9 showed a specificity of 98% and a sensitivity of 57% for FASD versus controls, corresponding to an LR+ of 36.9. Scores in individuals with FASD were stable into young adulthood. Conclusion The FASD Eye Code has the potential to serve as a complementary tool and help to strengthen an FASD diagnosis. Data are available upon reasonable request. All data relevant to the study are included in the article or uploaded as supplementary information.

中文翻译:

FASD Eye Code:胎儿酒精谱系障碍的补充诊断工具

目的 创建一种易于使用的补充眼科工具来支持胎儿酒精谱系障碍 (FASD) 的诊断。方法和分析 FASD Eye Code 来自 37 名 FASD 儿童以及 65 名年龄匹配和性别匹配的健康对照组。四个眼科类别是 FASD 儿童中常见的异常,按 4 分制独立排名,其中 1 种反映正常发现,4 种强烈存在异常:视力、屈光、斜视/双眼功能和眼部结构异常。该工具在 33 名患有注意力缺陷/多动症 (ADHD) 的儿童、57 名中晚期早产儿 (MLP) 和 16 名患有 Silver-Russell 综合征 (SRS) 的儿童身上进行了验证。在患有 ADHD 的儿童中,没有一个是早产或小于胎龄 (SGA) 的儿童,也没有被诊断患有 FASD。在出生的 MLP 儿童中,没有一个患有 SGA,没有被诊断为 ADHD 或 FASD,也没有早产儿视网膜病变史。患有 SRS 的儿童出生时都是 SGA,一半是早产,没有人患有 FASD。患有 FASD 的儿童在年轻时接受了重新检查。结果 FASD Eye Code 截止总分≥10 显示曲线下面积 (AUC) 为 0.78(95% CI 0.69 至 0.87),在区分 FASD 和对照、MLP 方面具有 94% 的特异性和 43% 的敏感性和 ADHD,对应的阳性似然比 (LR+) 为 7.5。FASD 和对照之间的 AUC 为 0.87(CI 0.80 至 0.95),特异性为 100%,敏感性为 43%;FASD 和 SRS 之间的 AUC 为 0.60(CI 0.45 至 0.75),特异性为 88%,敏感性为 43%。与对照相比,≥9 的截止分数显示 FASD 的特异性为 98%,敏感性为 57%,对应于 LR+ 为 36.9。胎儿酒精谱系障碍 (FASD) 患者的评分在成年早期保持稳定。结论 FASD Eye Code 有潜力作为补充工具,有助于加强 FASD 诊断。数据可根据合理要求提供。与研究相关的所有数据都包含在文章中或作为补充信息上传。
更新日期:2021-10-22
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