Diagnosis of FAS: a comparison of the Fetal Alcohol Syndrome Diagnostic Checklist and the Institute of Medicine Criteria for Fetal Alcohol Syndrome

Abstract

Fetal alcohol syndrome (FAS) is a common cause of neuropsychiatric disorders, growth impairment and craniofacial abnormalities. The syndrome may be more common than has been previously reported. Considerable controversy exists over the approaches for diagnosis of the syndrome.

Method: In this study, we examined the rate of agreement for two diagnostic schema using 385 subjects that had been referred for assessment of possible FAS. Cases had initially been diagnosed using the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). We then reviewed the chart of each of the 385 subjects referred and assigned each subject to a category from the Institute of Medicine (IOM) Criteria or to a NOFAS category. We then compared the IOM categories with the FASDC.

Results: Rates of agreement with the IOM Criteria ranged from 59-71% using the FASDC. Poorest agreement was found in conjunction with partial FAS (PFAS)/alcohol-related neurodevelopmental disorder (ARND). Removal of exposure data from the scores greatly affected accuracy for the FASDC scores.

Discussion: The schema had only modest rates of agreement for classification of subjects with a diagnosis of FAS. This study does not determine if the diagnosis used in the development of the cohort was accurate. Further study utilizing multiple diagnostic schema in a single population will help examine the rates of diagnostic agreement between differing diagnostic schema. A valuable cohort to study would be the subjects in the CDC surveillance system. A perspective study utilizing a single cohort and applying multiple diagnostic criteria at the same time would be useful.