» Articles » PMID: 19415142

Syndrome Diagnosis: Human Intuition or Machine Intelligence?

Overview
Publisher Bentham Open
Date 2009 May 6
PMID 19415142
Citations 1
Authors
Affiliations
Soon will be listed here.
Abstract

The aim of this study was to investigate whether artificial intelligence methods can represent objective methods that are essential in syndrome diagnosis. Most syndromes have no external criterion standard of diagnosis. The predictive value of a clinical sign used in diagnosis is dependent on the prior probability of the syndrome diagnosis. Clinicians often misjudge the probabilities involved. Syndromology needs objective methods to ensure diagnostic consistency, and take prior probabilities into account. We applied two basic artificial intelligence methods to a database of machine-generated patients - a 'vector method' and a set method. As reference methods we ran an ID3 algorithm, a cluster analysis and a naive Bayes' calculation on the same patient series. The overall diagnostic error rate for the the vector algorithm was 0.93%, and for the ID3 0.97%. For the clinical signs found by the set method, the predictive values varied between 0.71 and 1.0. The artificial intelligence methods that we used, proved simple, robust and powerful, and represent objective diagnostic methods.

Citing Articles

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

Catic A, Gurbeta L, Kurtovic-Kozaric A, Mehmedbasic S, Badnjevic A BMC Med Genomics. 2018; 11(1):19.

PMID: 29439729 PMC: 5812210. DOI: 10.1186/s12920-018-0333-2.

References
1.
Evans C . A case-based assistant for diagnosis and analysis of dysmorphic syndromes. Med Inform (Lond). 1995; 20(2):121-31. DOI: 10.3109/14639239509025350. View

2.
Biesecker L . Lumping and splitting: molecular biology in the genetics clinic. Clin Genet. 1998; 53(1):3-7. DOI: 10.1034/j.1399-0004.1998.531530102.x. View

3.
Pascual-Montano A, Carmona-Saez P, Chagoyen M, Tirado F, Carazo J, Pascual-Marqui R . bioNMF: a versatile tool for non-negative matrix factorization in biology. BMC Bioinformatics. 2006; 7:366. PMC: 1550731. DOI: 10.1186/1471-2105-7-366. View

4.
Loesch D, Scott D . Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin-Bell syndrome. Clin Genet. 1989; 36(3):145-51. DOI: 10.1111/j.1399-0004.1989.tb03180.x. View

5.
Murdoch-Kinch C, Ward R . Metacarpophalangeal analysis in Crouzon syndrome: additional evidence for phenotypic convergence with the acrocephalosyndactyly syndromes. Am J Med Genet. 1998; 73(1):61-6. View