Rosenfeld J, Martienssen N, Wohlleben B, Gross M
Klinik für Audiologie und Phoniatrie, Charité - Universitätsmedizin Berlin, Berlin.
Laryngorhinootologie. 2013 Mar;92(3):176-83. doi: 10.1055/s-0032-1316337. Epub 2012 Jul 6.
In recent years possibilities of genotyping have increased rapidly. The more accurate and valid the methods of phenotyping are, the greater is the chance to find genotype-phenotype correlations. For a complex disorder like specific language impairment a dichotomous decision (language impaired - normal developing) is necessary in addition to characterisation of endophenotypes concerning research and clinical practice.
A total of 61 (specific language impaired and normal developing) children aged 6-8 years were examined in a diagnostic study phase I/II. The diagnostic value of a language test battery including 8 subtests derived from German norm-referenced, standardized language tests was evaluated on the basis of different classification analyses.
Comparing the means, the subtests of the test battery showed significant differences between the 2 groups. Several analyses of classification validity resulted in acceptable to good (≥ 80%) diagnostic accuracy. Best classification rates for sensitivity (92.3%) and specificity (96.0%) were obtained by using logistic regression (method: forward conditional).
The results empirically support the diagnostic value of the test battery regarding differentiation between children with normal language and those with specific language impairment. However these findings cannot result in recommendations in routine clinical and scientific practice as the study was designed as a Phase I/II diagnostic study. For dichotomous diagnostic decisions a norm-referenced, standardized test should only be used, if there is empirically derived information about its classification validity.
近年来，基因分型的可能性迅速增加。表型分析方法越准确有效，发现基因型与表型相关性的机会就越大。对于像特定语言障碍这样的复杂疾病，除了在研究和临床实践中对内表型进行特征描述外，还需要做出二分决策（语言受损 - 正常发育）。
在一项I/II期诊断研究中，对61名6至8岁的儿童（包括特定语言受损和正常发育的儿童）进行了检查。基于不同的分类分析，评估了一个由8个分测验组成的语言测试组合的诊断价值，这些分测验来自德国常模参照的标准化语言测试。
比较均值时，测试组合的分测验在两组之间显示出显著差异。多项分类有效性分析得出的诊断准确率为可接受至良好（≥80%）。通过逻辑回归（方法：向前条件法）获得了最佳的敏感性分类率（92.3%）和特异性分类率（96.0%）。
结果从经验上支持了该测试组合在区分正常语言儿童和特定语言受损儿童方面的诊断价值。然而，由于该研究被设计为I/II期诊断研究，这些发现不能为常规临床和科学实践提供建议。对于二分诊断决策，只有在有关于其分类有效性的经验性信息时，才应使用常模参照的标准化测试。
