Use of an expert model to test diagnostic criteria in CHARGE syndrome

AI/GEN is an expert model of the diagnosis of deaf-blind syndromes that uses the EXPERT system developed by Rutgers University. Its knowledge structure employs criteria tables for diagnosis of the three types of CHARGE syndrome. The system has been used to test the published diagnostic criteria against the revised expert criteria, the latter being significantly more accurate than the former. The two sets of criteria are also compared with respect to the specificity and sensitivity of diagnosis. Expert systems can be of direct use to experts in refining and revising their diagnostic criteria.

[1]  Joyce A. Mitchell,et al.  The Approach to an Expert Consultation System in Deaf-Blind Syndromes. , 1984 .

[2]  J. Thelin,et al.  CHARGE syndrome. Part I. External ear anomalies. , 1986, International journal of pediatric otorhinolaryngology.

[3]  R. Pagon,et al.  Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. , 1981, The Journal of pediatrics.

[4]  Casimir A. Kulikowski,et al.  EXPERT: A System for Developing Consultation Models , 1979, IJCAI.

[5]  S. Davenport,et al.  The spectrum of clinical features in CHARGE syndrome , 1986, Clinical genetics.

[6]  J W Thelin,et al.  Dominant CHARGE association. , 1985, Ophthalmic paediatrics and genetics.

[7]  J. Mitchell,et al.  A new expert consultation system in deaf-blind syndromes. , 1986, Medical informatics = Medecine et informatique.

[8]  B. Hall.  Choanal atresia and associated multiple anomalies. , 1979, The Journal of pediatrics.

[9]  L C Kingsland,et al.  AI/RHEUM , 1983, Journal of Medical Systems.